KEGG   Homo sapiens (human): 1756
Entry
1756              CDS       T01001                                 
Symbol
DMD, BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85
Name
(RefSeq) dystrophin
  KO
K10366  dystrophin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04820  Cytoskeleton in muscle cells
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
hsa05416  Viral myocarditis
Network
nt06539  Cytoskeleton in muscle cells
  Element
N00465  Deleted DMD to dystrophin-associated protein complex
N01816  Costamere
Disease
H00294  Dilated cardiomyopathy
H00562  Dystrophinopathies
H01963  Duchenne muscular dystrophy
H01964  Becker muscular dystrophy
Drug target
Casimersen: D11988<US>
Delandistrogene moxeparvovec: D12633<US>
Drisapersen (DG01887): D10114 D10115
Eteplirsen: D09900<US>
Golodirsen: D11707<US>
Renadirsen sodium: D11918
Viltolarsen: D11528<JP/US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    1756 (DMD)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    1756 (DMD)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    1756 (DMD)
   05414 Dilated cardiomyopathy
    1756 (DMD)
   05416 Viral myocarditis
    1756 (DMD)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    1756 (DMD)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Cross-linking proteins
     1756 (DMD)
SSDB
Motif
Pfam: Spectrin CH EF-hand_2 EF-hand_3 ZZ WW CAMSAP_CH CCDC-167
Other DBs
NCBI-GeneID: 1756
NCBI-ProteinID: NP_003997
OMIM: 300377
HGNC: 2928
Ensembl: ENSG00000198947
UniProt: P11532
Structure
LinkDB
Position
X:complement(31119222..33339388)
AA seq 3685 aa
MLWWEEVEDCYEREDVQKKTFTKWVNAQFSKFGKQHIENLFSDLQDGRRLLDLLEGLTGQ
KLPKEKGSTRVHALNNVNKALRVLQNNNVDLVNIGSTDIVDGNHKLTLGLIWNIILHWQV
KNVMKNIMAGLQQTNSEKILLSWVRQSTRNYPQVNVINFTTSWSDGLALNALIHSHRPDL
FDWNSVVCQQSATQRLEHAFNIARYQLGIEKLLDPEDVDTTYPDKKSILMYITSLFQVLP
QQVSIEAIQEVEMLPRPPKVTKEEHFQLHHQMHYSQQITVSLAQGYERTSSPKPRFKSYA
YTQAAYVTTSDPTRSPFPSQHLEAPEDKSFGSSLMESEVNLDRYQTALEEVLSWLLSAED
TLQAQGEISNDVEVVKDQFHTHEGYMMDLTAHQGRVGNILQLGSKLIGTGKLSEDEETEV
QEQMNLLNSRWECLRVASMEKQSNLHRVLMDLQNQKLKELNDWLTKTEERTRKMEEEPLG
PDLEDLKRQVQQHKVLQEDLEQEQVRVNSLTHMVVVVDESSGDHATAALEEQLKVLGDRW
ANICRWTEDRWVLLQDILLKWQRLTEEQCLFSAWLSEKEDAVNKIHTTGFKDQNEMLSSL
QKLAVLKADLEKKKQSMGKLYSLKQDLLSTLKNKSVTQKTEAWLDNFARCWDNLVQKLEK
STAQISQAVTTTQPSLTQTTVMETVTTVTTREQILVKHAQEELPPPPPQKKRQITVDSEI
RKRLDVDITELHSWITRSEAVLQSPEFAIFRKEGNFSDLKEKVNAIEREKAEKFRKLQDA
SRSAQALVEQMVNEGVNADSIKQASEQLNSRWIEFCQLLSERLNWLEYQNNIIAFYNQLQ
QLEQMTTTAENWLKIQPTTPSEPTAIKSQLKICKDEVNRLSDLQPQIERLKIQSIALKEK
GQGPMFLDADFVAFTNHFKQVFSDVQAREKELQTIFDTLPPMRYQETMSAIRTWVQQSET
KLSIPQLSVTDYEIMEQRLGELQALQSSLQEQQSGLYYLSTTVKEMSKKAPSEISRKYQS
EFEEIEGRWKKLSSQLVEHCQKLEEQMNKLRKIQNHIQTLKKWMAEVDVFLKEEWPALGD
SEILKKQLKQCRLLVSDIQTIQPSLNSVNEGGQKIKNEAEPEFASRLETELKELNTQWDH
MCQQVYARKEALKGGLEKTVSLQKDLSEMHEWMTQAEEEYLERDFEYKTPDELQKAVEEM
KRAKEEAQQKEAKVKLLTESVNSVIAQAPPVAQEALKKELETLTTNYQWLCTRLNGKCKT
LEEVWACWHELLSYLEKANKWLNEVEFKLKTTENIPGGAEEISEVLDSLENLMRHSEDNP
NQIRILAQTLTDGGVMDELINEELETFNSRWRELHEEAVRRQKLLEQSIQSAQETEKSLH
LIQESLTFIDKQLAAYIADKVDAAQMPQEAQKIQSDLTSHEISLEEMKKHNQGKEAAQRV
LSQIDVAQKKLQDVSMKFRLFQKPANFEQRLQESKMILDEVKMHLPALETKSVEQEVVQS
QLNHCVNLYKSLSEVKSEVEMVIKTGRQIVQKKQTENPKELDERVTALKLHYNELGAKVT
ERKQQLEKCLKLSRKMRKEMNVLTEWLAATDMELTKRSAVEGMPSNLDSEVAWGKATQKE
IEKQKVHLKSITEVGEALKTVLGKKETLVEDKLSLLNSNWIAVTSRAEEWLNLLLEYQKH
METFDQNVDHITKWIIQADTLLDESEKKKPQQKEDVLKRLKAELNDIRPKVDSTRDQAAN
LMANRGDHCRKLVEPQISELNHRFAAISHRIKTGKASIPLKELEQFNSDIQKLLEPLEAE
IQQGVNLKEEDFNKDMNEDNEGTVKELLQRGDNLQQRITDERKREEIKIKQQLLQTKHNA
LKDLRSQRRKKALEISHQWYQYKRQADDLLKCLDDIEKKLASLPEPRDERKIKEIDRELQ
KKKEELNAVRRQAEGLSEDGAAMAVEPTQIQLSKRWREIESKFAQFRRLNFAQIHTVREE
TMMVMTEDMPLEISYVPSTYLTEITHVSQALLEVEQLLNAPDLCAKDFEDLFKQEESLKN
IKDSLQQSSGRIDIIHSKKTAALQSATPVERVKLQEALSQLDFQWEKVNKMYKDRQGRFD
RSVEKWRRFHYDIKIFNQWLTEAEQFLRKTQIPENWEHAKYKWYLKELQDGIGQRQTVVR
TLNATGEEIIQQSSKTDASILQEKLGSLNLRWQEVCKQLSDRKKRLEEQKNILSEFQRDL
NEFVLWLEEADNIASIPLEPGKEQQLKEKLEQVKLLVEELPLRQGILKQLNETGGPVLVS
APISPEEQDKLENKLKQTNLQWIKVSRALPEKQGEIEAQIKDLGQLEKKLEDLEEQLNHL
LLWLSPIRNQLEIYNQPNQEGPFDVKETEIAVQAKQPDVEEILSKGQHLYKEKPATQPVK
RKLEDLSSEWKAVNRLLQELRAKQPDLAPGLTTIGASPTQTVTLVTQPVVTKETAISKLE
MPSSLMLEVPALADFNRAWTELTDWLSLLDQVIKSQRVMVGDLEDINEMIIKQKATMQDL
EQRRPQLEELITAAQNLKNKTSNQEARTIITDRIERIQNQWDEVQEHLQNRRQQLNEMLK
DSTQWLEAKEEAEQVLGQARAKLESWKEGPYTVDAIQKKITETKQLAKDLRQWQTNVDVA
NDLALKLLRDYSADDTRKVHMITENINASWRSIHKRVSEREAALEETHRLLQQFPLDLEK
FLAWLTEAETTANVLQDATRKERLLEDSKGVKELMKQWQDLQGEIEAHTDVYHNLDENSQ
KILRSLEGSDDAVLLQRRLDNMNFKWSELRKKSLNIRSHLEASSDQWKRLHLSLQELLVW
LQLKDDELSRQAPIGGDFPAVQKQNDVHRAFKRELKTKEPVIMSTLETVRIFLTEQPLEG
LEKLYQEPRELPPEERAQNVTRLLRKQAEEVNTEWEKLNLHSADWQRKIDETLERLRELQ
EATDELDLKLRQAEVIKGSWQPVGDLLIDSLQDHLEKVKALRGEIAPLKENVSHVNDLAR
QLTTLGIQLSPYNLSTLEDLNTRWKLLQVAVEDRVRQLHEAHRDFGPASQHFLSTSVQGP
WERAISPNKVPYYINHETQTTCWDHPKMTELYQSLADLNNVRFSAYRTAMKLRRLQKALC
LDLLSLSAACDALDQHNLKQNDQPMDILQIINCLTTIYDRLEQEHNNLVNVPLCVDMCLN
WLLNVYDTGRTGRIRVLSFKTGIISLCKAHLEDKYRYLFKQVASSTGFCDQRRLGLLLHD
SIQIPRQLGEVASFGGSNIEPSVRSCFQFANNKPEIEAALFLDWMRLEPQSMVWLPVLHR
VAAAETAKHQAKCNICKECPIIGFRYRSLKHFNYDICQSCFFSGRVAKGHKMHYPMVEYC
TPTTSGEDVRDFAKVLKNKFRTKRYFAKHPRMGYLPVQTVLEGDNMETPVTLINFWPVDS
APASSPQLSHDDTHSRIEHYASRLAEMENSNGSYLNDSISPNESIDDEHLLIQHYCQSLN
QDSPLSQPRSPAQILISLESEERGELERILADLEEENRNLQAEYDRLKQQHEHKGLSPLP
SPPEMMPTSPQSPRDAELIAEAKLLRQHKGRLEARMQILEDHNKQLESQLHRLRQLLEQP
QAEAKVNGTTVSSPSTSLQRSDSSQPMLLRVVGSQTSDSMGEEDLLSPPQDTSTGLEEVM
EQLNNSFPSSRGRNTPGKPMREDTM
NT seq 11058 nt   +upstreamnt  +downstreamnt
atgctttggtgggaagaagtagaggactgttatgaaagagaagatgttcaaaagaaaaca
ttcacaaaatgggtaaatgcacaattttctaagtttgggaagcagcatattgagaacctc
ttcagtgacctacaggatgggaggcgcctcctagacctcctcgaaggcctgacagggcaa
aaactgccaaaagaaaaaggatccacaagagttcatgccctgaacaatgtcaacaaggca
ctgcgggttttgcagaacaataatgttgatttagtgaatattggaagtactgacatcgta
gatggaaatcataaactgactcttggtttgatttggaatataatcctccactggcaggtc
aaaaatgtaatgaaaaatatcatggctggattgcaacaaaccaacagtgaaaagattctc
ctgagctgggtccgacaatcaactcgtaattatccacaggttaatgtaatcaacttcacc
accagctggtctgatggcctggctttgaatgctctcatccatagtcataggccagaccta
tttgactggaatagtgtggtttgccagcagtcagccacacaacgactggaacatgcattc
aacatcgccagatatcaattaggcatagagaaactactcgatcctgaagatgttgatacc
acctatccagataagaagtccatcttaatgtacatcacatcactcttccaagttttgcct
caacaagtgagcattgaagccatccaggaagtggaaatgttgccaaggccacctaaagtg
actaaagaagaacattttcagttacatcatcaaatgcactattctcaacagatcacggtc
agtctagcacagggatatgagagaacttcttcccctaagcctcgattcaagagctatgcc
tacacacaggctgcttatgtcaccacctctgaccctacacggagcccatttccttcacag
catttggaagctcctgaagacaagtcatttggcagttcattgatggagagtgaagtaaac
ctggaccgttatcaaacagctttagaagaagtattatcgtggcttctttctgctgaggac
acattgcaagcacaaggagagatttctaatgatgtggaagtggtgaaagaccagtttcat
actcatgaggggtacatgatggatttgacagcccatcagggccgggttggtaatattcta
caattgggaagtaagctgattggaacaggaaaattatcagaagatgaagaaactgaagta
caagagcagatgaatctcctaaattcaagatgggaatgcctcagggtagctagcatggaa
aaacaaagcaatttacatagagttttaatggatctccagaatcagaaactgaaagagttg
aatgactggctaacaaaaacagaagaaagaacaaggaaaatggaggaagagcctcttgga
cctgatcttgaagacctaaaacgccaagtacaacaacataaggtgcttcaagaagatcta
gaacaagaacaagtcagggtcaattctctcactcacatggtggtggtagttgatgaatct
agtggagatcacgcaactgctgctttggaagaacaacttaaggtattgggagatcgatgg
gcaaacatctgtagatggacagaagaccgctgggttcttttacaagacatccttctcaaa
tggcaacgtcttactgaagaacagtgcctttttagtgcatggctttcagaaaaagaagat
gcagtgaacaagattcacacaactggctttaaagatcaaaatgaaatgttatcaagtctt
caaaaactggccgttttaaaagcggatctagaaaagaaaaagcaatccatgggcaaactg
tattcactcaaacaagatcttctttcaacactgaagaataagtcagtgacccagaagacg
gaagcatggctggataactttgcccggtgttgggataatttagtccaaaaacttgaaaag
agtacagcacagatttcacaggctgtcaccaccactcagccatcactaacacagacaact
gtaatggaaacagtaactacggtgaccacaagggaacagatcctggtaaagcatgctcaa
gaggaacttccaccaccacctccccaaaagaagaggcagattactgtggattctgaaatt
aggaaaaggttggatgttgatataactgaacttcacagctggattactcgctcagaagct
gtgttgcagagtcctgaatttgcaatctttcggaaggaaggcaacttctcagacttaaaa
gaaaaagtcaatgccatagagcgagaaaaagctgagaagttcagaaaactgcaagatgcc
agcagatcagctcaggccctggtggaacagatggtgaatgagggtgttaatgcagatagc
atcaaacaagcctcagaacaactgaacagccggtggatcgaattctgccagttgctaagt
gagagacttaactggctggagtatcagaacaacatcatcgctttctataatcagctacaa
caattggagcagatgacaactactgctgaaaactggttgaaaatccaacccaccacccca
tcagagccaacagcaattaaaagtcagttaaaaatttgtaaggatgaagtcaaccggcta
tcagatcttcaacctcaaattgaacgattaaaaattcaaagcatagccctgaaagagaaa
ggacaaggacccatgttcctggatgcagactttgtggcctttacaaatcattttaagcaa
gtcttttctgatgtgcaggccagagagaaagagctacagacaatttttgacactttgcca
ccaatgcgctatcaggagaccatgagtgccatcaggacatgggtccagcagtcagaaacc
aaactctccatacctcaacttagtgtcaccgactatgaaatcatggagcagagactcggg
gaattgcaggctttacaaagttctctgcaagagcaacaaagtggcctatactatctcagc
accactgtgaaagagatgtcgaagaaagcgccctctgaaattagccggaaatatcaatca
gaatttgaagaaattgagggacgctggaagaagctctcctcccagctggttgagcattgt
caaaagctagaggagcaaatgaataaactccgaaaaattcagaatcacatacaaaccctg
aagaaatggatggctgaagttgatgtttttctgaaggaggaatggcctgcccttggggat
tcagaaattctaaaaaagcagctgaaacagtgcagacttttagtcagtgatattcagaca
attcagcccagtctaaacagtgtcaatgaaggtgggcagaagataaagaatgaagcagag
ccagagtttgcttcgagacttgagacagaactcaaagaacttaacactcagtgggatcac
atgtgccaacaggtctatgccagaaaggaggccttgaagggaggtttggagaaaactgta
agcctccagaaagatctatcagagatgcacgaatggatgacacaagctgaagaagagtat
cttgagagagattttgaatataaaactccagatgaattacagaaagcagttgaagagatg
aagagagctaaagaagaggcccaacaaaaagaagcgaaagtgaaactccttactgagtct
gtaaatagtgtcatagctcaagctccacctgtagcacaagaggccttaaaaaaggaactt
gaaactctaaccaccaactaccagtggctctgcactaggctgaatgggaaatgcaagact
ttggaagaagtttgggcatgttggcatgagttattgtcatacttggagaaagcaaacaag
tggctaaatgaagtagaatttaaacttaaaaccactgaaaacattcctggcggagctgag
gaaatctctgaggtgctagattcacttgaaaatttgatgcgacattcagaggataaccca
aatcagattcgcatattggcacagaccctaacagatggcggagtcatggatgagctaatc
aatgaggaacttgagacatttaattctcgttggagggaactacatgaagaggctgtaagg
aggcaaaagttgcttgaacagagcatccagtctgcccaggagactgaaaaatccttacac
ttaatccaggagtccctcacattcattgacaagcagttggcagcttatattgcagacaag
gtggacgcagctcaaatgcctcaggaagcccagaaaatccaatctgatttgacaagtcat
gagatcagtttagaagaaatgaagaaacataatcaggggaaggaggctgcccaaagagtc
ctgtctcagattgatgttgcacagaaaaaattacaagatgtctccatgaagtttcgatta
ttccagaaaccagccaattttgagcagcgtctacaagaaagtaagatgattttagatgaa
gtgaagatgcacttgcctgcattggaaacaaagagtgtggaacaggaagtagtacagtca
cagctaaatcattgtgtgaacttgtataaaagtctgagtgaagtgaagtctgaagtggaa
atggtgataaagactggacgtcagattgtacagaaaaagcagacggaaaatcccaaagaa
cttgatgaaagagtaacagctttgaaattgcattataatgagctgggagcaaaggtaaca
gaaagaaagcaacagttggagaaatgcttgaaattgtcccgtaagatgcgaaaggaaatg
aatgtcttgacagaatggctggcagctacagatatggaattgacaaagagatcagcagtt
gaaggaatgcctagtaatttggattctgaagttgcctggggaaaggctactcaaaaagag
attgagaaacagaaggtgcacctgaagagtatcacagaggtaggagaggccttgaaaaca
gttttgggcaagaaggagacgttggtggaagataaactcagtcttctgaatagtaactgg
atagctgtcacctcccgagcagaagagtggttaaatcttttgttggaataccagaaacac
atggaaacttttgaccagaatgtggaccacatcacaaagtggatcattcaggctgacaca
cttttggatgaatcagagaaaaagaaaccccagcaaaaagaagacgtgcttaagcgttta
aaggcagaactgaatgacatacgcccaaaggtggactctacacgtgaccaagcagcaaac
ttgatggcaaaccgcggtgaccactgcaggaaattagtagagccccaaatctcagagctc
aaccatcgatttgcagccatttcacacagaattaagactggaaaggcctccattcctttg
aaggaattggagcagtttaactcagatatacaaaaattgcttgaaccactggaggctgaa
attcagcagggggtgaatctgaaagaggaagacttcaataaagatatgaatgaagacaat
gagggtactgtaaaagaattgttgcaaagaggagacaacttacaacaaagaatcacagat
gagagaaagcgagaggaaataaagataaaacagcagctgttacagacaaaacataatgct
ctcaaggatttgaggtctcaaagaagaaaaaaggctctagaaatttctcatcagtggtat
cagtacaagaggcaggctgatgatctcctgaaatgcttggatgacattgaaaaaaaatta
gccagcctacctgagcccagagatgaaaggaaaataaaggaaattgatcgggaattgcag
aagaagaaagaggagctgaatgcagtgcgtaggcaagctgagggcttgtctgaggatggg
gccgcaatggcagtggagccaactcagatccagctcagcaagcgctggcgggaaattgag
agcaaatttgctcagtttcgaagactcaactttgcacaaattcacactgtccgtgaagaa
acgatgatggtgatgactgaagacatgcctttggaaatttcttatgtgccttctacttat
ttgactgaaatcactcatgtctcacaagccctattagaagtggaacaacttctcaatgct
cctgacctctgtgctaaggactttgaagatctctttaagcaagaggagtctctgaagaat
ataaaagatagtctacaacaaagctcaggtcggattgacattattcatagcaagaagaca
gcagcattgcaaagtgcaacgcctgtggaaagggtgaagctacaggaagctctctcccag
cttgatttccaatgggaaaaagttaacaaaatgtacaaggaccgacaagggcgatttgac
agatctgttgagaaatggcggcgttttcattatgatataaagatatttaatcagtggcta
acagaagctgaacagtttctcagaaagacacaaattcctgagaattgggaacatgctaaa
tacaaatggtatcttaaggaactccaggatggcattgggcagcggcaaactgttgtcaga
acattgaatgcaactggggaagaaataattcagcaatcctcaaaaacagatgccagtatt
ctacaggaaaaattgggaagcctgaatctgcggtggcaggaggtctgcaaacagctgtca
gacagaaaaaagaggctagaagaacaaaagaatatcttgtcagaatttcaaagagattta
aatgaatttgttttatggttggaggaagcagataacattgctagtatcccacttgaacct
ggaaaagagcagcaactaaaagaaaagcttgagcaagtcaagttactggtggaagagttg
cccctgcgccagggaattctcaaacaattaaatgaaactggaggacccgtgcttgtaagt
gctcccataagcccagaagagcaagataaacttgaaaataagctcaagcagacaaatctc
cagtggataaaggtttccagagctttacctgagaaacaaggagaaattgaagctcaaata
aaagaccttgggcagcttgaaaaaaagcttgaagaccttgaagagcagttaaatcatctg
ctgctgtggttatctcctattaggaatcagttggaaatttataaccaaccaaaccaagaa
ggaccatttgacgttaaggaaactgaaatagcagttcaagctaaacaaccggatgtggaa
gagattttgtctaaagggcagcatttgtacaaggaaaaaccagccactcagccagtgaag
aggaagttagaagatctgagctctgagtggaaggcggtaaaccgtttacttcaagagctg
agggcaaagcagcctgacctagctcctggactgaccactattggagcctctcctactcag
actgttactctggtgacacaacctgtggttactaaggaaactgccatctccaaactagaa
atgccatcttccttgatgttggaggtacctgctctggcagatttcaaccgggcttggaca
gaacttaccgactggctttctctgcttgatcaagttataaaatcacagagggtgatggtg
ggtgaccttgaggatatcaacgagatgatcatcaagcagaaggcaacaatgcaggatttg
gaacagaggcgtccccagttggaagaactcattaccgctgcccaaaatttgaaaaacaag
accagcaatcaagaggctagaacaatcattacggatcgaattgaaagaattcagaatcag
tgggatgaagtacaagaacaccttcagaaccggaggcaacagttgaatgaaatgttaaag
gattcaacacaatggctggaagctaaggaagaagctgagcaggtcttaggacaggccaga
gccaagcttgagtcatggaaggagggtccctatacagtagatgcaatccaaaagaaaatc
acagaaaccaagcagttggccaaagacctccgccagtggcagacaaatgtagatgtggca
aatgacttggccctgaaacttctccgggattattctgcagatgataccagaaaagtccac
atgataacagagaatatcaatgcctcttggagaagcattcataaaagggtgagtgagcga
gaggctgctttggaagaaactcatagattactgcaacagttccccctggacctggaaaag
tttcttgcctggcttacagaagctgaaacaactgccaatgtcctacaggatgctacccgt
aaggaaaggctcctagaagactccaagggagtaaaagagctgatgaaacaatggcaagac
ctccaaggtgaaattgaagctcacacagatgtttatcacaacctggatgaaaacagccaa
aaaatcctgagatccctggaaggttccgatgatgcagtcctgttacaaagacgtttggat
aacatgaacttcaagtggagtgaacttcggaaaaagtctctcaacattaggtcccatttg
gaagccagttctgaccagtggaagcgtctgcacctttctctgcaggaacttctggtgtgg
ctacagctgaaagatgatgaattaagccggcaggcacctattggaggcgactttccagca
gttcagaagcagaacgatgtacatagggccttcaagagggaattgaaaactaaagaacct
gtaatcatgagtactcttgagactgtacgaatatttctgacagagcagcctttggaagga
ctagagaaactctaccaggagcccagagagctgcctcctgaggagagagcccagaatgtc
actcggcttctacgaaagcaggctgaggaggtcaatactgagtgggaaaaattgaacctg
cactccgctgactggcagagaaaaatagatgagacccttgaaagactccgggaacttcaa
gaggccacggatgagctggacctcaagctgcgccaagctgaggtgatcaagggatcctgg
cagcccgtgggcgatctcctcattgactctctccaagatcacctcgagaaagtcaaggca
cttcgaggagaaattgcgcctctgaaagagaacgtgagccacgtcaatgaccttgctcgc
cagcttaccactttgggcattcagctctcaccgtataacctcagcactctggaagacctg
aacaccagatggaagcttctgcaggtggccgtcgaggaccgagtcaggcagctgcatgaa
gcccacagggactttggtccagcatctcagcactttctttccacgtctgtccagggtccc
tgggagagagccatctcgccaaacaaagtgccctactatatcaaccacgagactcaaaca
acttgctgggaccatcccaaaatgacagagctctaccagtctttagctgacctgaataat
gtcagattctcagcttataggactgccatgaaactccgaagactgcagaaggccctttgc
ttggatctcttgagcctgtcagctgcatgtgatgccttggaccagcacaacctcaagcaa
aatgaccagcccatggatatcctgcagattattaattgtttgaccactatttatgaccgc
ctggagcaagagcacaacaatttggtcaacgtccctctctgcgtggatatgtgtctgaac
tggctgctgaatgtttatgatacgggacgaacagggaggatccgtgtcctgtcttttaaa
actggcatcatttccctgtgtaaagcacatttggaagacaagtacagataccttttcaag
caagtggcaagttcaacaggattttgtgaccagcgcaggctgggcctccttctgcatgat
tctatccaaattccaagacagttgggtgaagttgcatcctttgggggcagtaacattgag
ccaagtgtccggagctgcttccaatttgctaataataagccagagatcgaagcggccctc
ttcctagactggatgagactggaaccccagtccatggtgtggctgcccgtcctgcacaga
gtggctgctgcagaaactgccaagcatcaggccaaatgtaacatctgcaaagagtgtcca
atcattggattcaggtacaggagtctaaagcactttaattatgacatctgccaaagctgc
tttttttctggtcgagttgcaaaaggccataaaatgcactatcccatggtggaatattgc
actccgactacatcaggagaagatgttcgagactttgccaaggtactaaaaaacaaattt
cgaaccaaaaggtattttgcgaagcatccccgaatgggctacctgccagtgcagactgtc
ttagagggggacaacatggaaactcccgttactctgatcaacttctggccagtagattct
gcgcctgcctcgtcccctcagctttcacacgatgatactcattcacgcattgaacattat
gctagcaggctagcagaaatggaaaacagcaatggatcttatctaaatgatagcatctct
cctaatgagagcatagatgatgaacatttgttaatccagcattactgccaaagtttgaac
caggactcccccctgagccagcctcgtagtcctgcccagatcttgatttccttagagagt
gaggaaagaggggagctagagagaatcctagcagatcttgaggaagaaaacaggaatctg
caagcagaatatgaccgtctaaagcagcagcacgaacataaaggcctgtccccactgccg
tcccctcctgaaatgatgcccacctctccccagagtccccgggatgctgagctcattgct
gaggccaagctactgcgtcaacacaaaggccgcctggaagccaggatgcaaatcctggaa
gaccacaataaacagctggagtcacagttacacaggctaaggcagctgctggagcaaccc
caggcagaggccaaagtgaatggcacaacggtgtcctctccttctacctctctacagagg
tccgacagcagtcagcctatgctgctccgagtggttggcagtcaaacttcggactccatg
ggtgaggaagatcttctcagtcctccccaggacacaagcacagggttagaggaggtgatg
gagcaactcaacaactccttccctagttcaagaggaagaaatacccctggaaagccaatg
agagaggacacaatgtag

KEGG   Homo sapiens (human): 6640
Entry
6640              CDS       T01001                                 
Symbol
SNTA1, LQT12, SNT1, TACIP1, dJ1187J4.5
Name
(RefSeq) syntrophin alpha 1
  KO
K24063  alpha-syntrophin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04820  Cytoskeleton in muscle cells
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
hsa05416  Viral myocarditis
Network
nt06539  Cytoskeleton in muscle cells
  Element
N00465  Deleted DMD to dystrophin-associated protein complex
N01816  Costamere
Disease
H00720  Long QT syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    6640 (SNTA1)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    6640 (SNTA1)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    6640 (SNTA1)
   05414 Dilated cardiomyopathy
    6640 (SNTA1)
   05416 Viral myocarditis
    6640 (SNTA1)
SSDB
Motif
Pfam: Syntrophin_4th PH_17 PDZ PH PDZ_6 PDZ_2
Other DBs
NCBI-GeneID: 6640
NCBI-ProteinID: NP_003089
OMIM: 601017
HGNC: 11167
Ensembl: ENSG00000101400
UniProt: Q13424
LinkDB
Position
20:complement(33407957..33443763)
AA seq 505 aa
MASGRRAPRTGLLELRAGAGSGAGGERWQRVLLSLAEDVLTVSPADGDPGPEPGAPREQE
PAQLNGAAEPGAGPPQLPEALLLQRRRVTVRKADAGGLGISIKGGRENKMPILISKIFKG
LAADQTEALFVGDAILSVNGEDLSSATHDEAVQVLKKTGKEVVLEVKYMKDVSPYFKNST
GGTSVGWDSPPASPLQRQPSSPGPTPRNFSEAKHMSLKMAYVSKRCTPNDPEPRYLEICS
ADGQDTLFLRAKDEASARSWATAIQAQVNTLTPRVKDELQALLAATSTAGSQDIKQIGWL
TEQLPSGGTAPTLALLTEKELLLYLSLPETREALSRPARTAPLIATRLVHSGPSKGSVPY
DAELSFALRTGTRHGVDTHLFSVESPQELAAWTRQLVDGCHRAAEGVQEVSTACTWNGRP
CSLSVHIDKGFTLWAAEPGAARAVLLRQPFEKLQMSSDDGASLLFLDFGGAEGEIQLDLH
SCPKTIVFIIHSFLSAKVTRLGLLA
NT seq 1518 nt   +upstreamnt  +downstreamnt
atggcgtccggcaggcgcgccccgcgcaccgggctgctggagctgcgcgccggggcgggc
tcgggggccggcggcgagcgatggcagcgggtgctgctgagtctggcggaggacgtgctg
accgtgagccccgccgacggcgaccctggtcccgagcccggcgctccgcgggagcaggag
cccgcgcagctcaacggcgccgcggagccgggcgccgggcccccgcagctgccagaggcg
ctactgctccagcggcgccgcgtgacggtgcgcaaggccgacgccggtgggctgggcatc
agcatcaaaggcggccgggagaacaagatgcctattctcatttccaagatcttcaaggga
ttggcagctgaccagacagaggccctttttgtgggggatgccatcctgtctgtgaatggg
gaagacttgtcctctgctacccatgatgaggcggtgcaggtcctcaagaagacaggcaag
gaggtggtgctggaggtcaagtatatgaaggacgtctcaccgtatttcaagaactctact
ggtgggacctcggtcggctgggactcacctcctgcctcaccccttcagcggcagccttcc
tcccctggccccacaccccggaacttcagcgaggccaaacacatgtccttgaagatggca
tatgtctcgaagaggtgcacccccaatgacccggagcccaggtatctggagatctgctcg
gcagatggtcaagacaccctcttcctgagggccaaggatgaggctagtgcgaggtcgtgg
gcgactgccatccaagcccaggtcaatactctgacgccgcgggtcaaggatgagctgcag
gcactgttggcagccaccagcacagctgggagccaggacatcaagcagattggctggcta
actgagcagctgcccagtgggggcacagcccccaccctggccctgctaactgaaaaggaa
ctgctcctctacttgtctctccccgagacccgcgaggccctgagccggccagcccgtact
gccccactcatcgccaccagactggtgcactcaggcccctccaagggctcagtgccctac
gatgcagagctctcttttgccctgcgcacgggcacgcgtcacggtgtggacactcacctg
ttcagcgtggagtcaccgcaggagctggctgcctggacccgccagcttgtggatggctgt
caccgggccgccgagggtgtgcaggaggtgtctacagcctgcacgtggaatgggcgtccc
tgcagcctgtctgtgcacatcgacaagggcttcacactgtgggcggctgagccaggtgca
gcccgagctgtgctcctgcgacagcccttcgagaagctgcagatgtcttcagatgacggt
gccagtctccttttcctggattttggaggtgctgaaggcgagatccagctggacctgcac
tcgtgtcccaaaaccatagtcttcatcatccactccttcctgtcggccaaagtcacccgc
ctcgggctgttggcctag

KEGG   Homo sapiens (human): 6641
Entry
6641              CDS       T01001                                 
Symbol
SNTB1, 59-DAP, A1B, BSYN2, DAPA1B, SNT2, SNT2B1, TIP-43
Name
(RefSeq) syntrophin beta 1
  KO
K24064  beta-syntrophin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04820  Cytoskeleton in muscle cells
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
hsa05416  Viral myocarditis
Network
nt06539  Cytoskeleton in muscle cells
  Element
N00465  Deleted DMD to dystrophin-associated protein complex
N01816  Costamere
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    6641 (SNTB1)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    6641 (SNTB1)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    6641 (SNTB1)
   05414 Dilated cardiomyopathy
    6641 (SNTB1)
   05416 Viral myocarditis
    6641 (SNTB1)
SSDB
Motif
Pfam: Syntrophin_4th PH_17 PH PDZ PDZ_2 PDZ_6 SOS1_NGEF_PH
Other DBs
NCBI-GeneID: 6641
NCBI-ProteinID: NP_066301
OMIM: 600026
HGNC: 11168
Ensembl: ENSG00000172164
UniProt: Q13884
Structure
LinkDB
Position
8:complement(120535756..120812046)
AA seq 538 aa
MAVAAAAAAAGPAGAGGGRAQRSGLLEVLVRDRWHKVLVNLSEDALVLSSEEGAAAYNGI
GTATNGSFCRGAGAGHPGAGGAQPPDSPAGVRTAFTDLPEQVPESISNQKRGVKVLKQEL
GGLGISIKGGKENKMPILISKIFKGLAADQTQALYVGDAILSVNGADLRDATHDEAVQAL
KRAGKEVLLEVKYMREATPYVKKGSPVSEIGWETPPPESPRLGGSTSDPPSSQSFSFHRD
RKSIPLKMCYVTRSMALADPENRQLEIHSPDAKHTVILRSKDSATAQAWFSAIHSNVNDL
LTRVIAEVREQLGKTGIAGSREIRHLGWLAEKVPGESKKQWKPALVVLTEKDLLIYDSMP
RRKEAWFSPVHTYPLLATRLVHSGPGKGSPQAGVDLSFATRTGTRQGIETHLFRAETSRD
LSHWTRSIVQGCHNSAELIAEISTACTYKNQECRLTIHYENGFSITTEPQEGAFPKTIIQ
SPYEKLKMSSDDGIRMLYLDFGGKDGEIQLDLHSCPKPIVFIIHSFLSAKITRLGLVA
NT seq 1617 nt   +upstreamnt  +downstreamnt
atggcggtagcggcggcggcggcggcggctgggccggctggcgcgggaggcggccgggcg
cagcggagcgggctgctggaagttttggtgcgggatcgctggcacaaagttctggtgaac
ttgagcgaggacgccctggttctgagcagcgaggagggcgctgcggcgtacaacggcatc
gggaccgccaccaatggctcgttctgcaggggcgccggggctgggcacccgggcgcgggc
ggcgcgcagcccccggactcgcccgccggggtccgcaccgctttcaccgacctgcccgag
caggtgcccgagtccatctcgaaccagaagcgtggcgtgaaggtgctgaagcaggagctg
ggcgggctggggatcagcatcaaggggggcaaggagaacaagatgcccatcctcatcagc
aagatcttcaaggggctggcggcggaccagacccaagccctgtacgtgggcgacgccatc
ctgtccgtgaacggagccgacctgcgggacgccacccacgacgaggcggtgcaggcgttg
aagcgcgcgggcaaggaagtgctgctggaagtgaagtacatgcgagaagccacgccctat
gtgaagaaaggatccccagtatccgagattgggtgggaaacacctccgcctgaatcccct
cggttagggggcagcacctcagaccccccgtcatcgcagtccttctccttccacagagac
cggaaaagcatccccctcaaaatgtgctacgtcactcggagtatggccttggccgaccct
gagaacaggcagcttgaaatccactctccagatgctaagcacacggtgatcctaaggagc
aaggactcagccacggcccaggcatggttcagtgccatccattccaacgttaatgacctg
ctgacccgagtgattgctgaggtcagagagcagctggggaaaacaggcattgctgggagc
cgagagattaggcatcttggctggcttgcagaaaaggtgccaggggagagcaagaaacag
tggaaaccagccctggttgtgctgactgagaaagaccttttaatctatgacagcatgcca
cggaggaaggaagcctggttcagcccagttcacacataccctcttcttgccaccaggctg
gtccattcaggtccaggaaagggatcaccccaggctggtgtggatctgtcctttgcaacg
cgaactggtaccaggcaagggattgaaacacatctcttcagagcagagaccagcagggac
ctctcccactggacaaggagcatagtacagggttgccacaattctgctgaactcattgct
gaaatcagcactgcttgcacctacaaaaaccaggagtgccgtttgaccatacattatgag
aatggattttctattaccactgaaccacaggagggtgcctttcccaagaccatcatacag
tctccttatgaaaagctcaaaatgtcttcagatgatggaatcaggatgctgtatttagat
tttggaggcaaagatggagagattcaactggaccttcattcctgccccaagccaattgtt
ttcatcattcattccttcctgtcagctaagattacaagactgggcttggtggcctga

KEGG   Homo sapiens (human): 6645
Entry
6645              CDS       T01001                                 
Symbol
SNTB2, D16S2531E, EST25263, SNT2B2, SNT3, SNTL
Name
(RefSeq) syntrophin beta 2
  KO
K24064  beta-syntrophin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04820  Cytoskeleton in muscle cells
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
hsa05416  Viral myocarditis
Network
nt06539  Cytoskeleton in muscle cells
  Element
N00465  Deleted DMD to dystrophin-associated protein complex
N01816  Costamere
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    6645 (SNTB2)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    6645 (SNTB2)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    6645 (SNTB2)
   05414 Dilated cardiomyopathy
    6645 (SNTB2)
   05416 Viral myocarditis
    6645 (SNTB2)
SSDB
Motif
Pfam: Syntrophin_4th PH_17 PDZ PH PDZ_6 PDZ_2
Other DBs
NCBI-GeneID: 6645
NCBI-ProteinID: NP_006741
OMIM: 600027
HGNC: 11169
Ensembl: ENSG00000168807
UniProt: Q13425
Structure
LinkDB
Position
16:69187164..69309052
AA seq 540 aa
MRVAAATAAAGAGPAMAVWTRATKAGLVELLLRERWVRVVAELSGESLSLTGDAAAAELE
PALGPAAAAFNGLPNGGGAGDSLPGSPSRGLGPPSPPAPPRGPAGEAGASPPVRRVRVVK
QEAGGLGISIKGGRENRMPILISKIFPGLAADQSRALRLGDAILSVNGTDLRQATHDQAV
QALKRAGKEVLLEVKFIREVTPYIKKPSLVSDLPWEGAAPQSPSFSGSEDSGSPKHQNST
KDRKIIPLKMCFAARNLSMPDLENRLIELHSPDSRNTLILRCKDTATAHSWFVAIHTNIM
ALLPQVLAELNAMLGATSTAGGSKEVKHIAWLAEQAKLDGGRQQWRPVLMAVTEKDLLLY
DCMPWTRDAWASPCHSYPLVATRLVHSGSGCRSPSLGSDLTFATRTGSRQGIEMHLFRVE
THRDLSSWTRILVQGCHAAAELIKEVSLGCMLNGQEVRLTIHYENGFTISRENGGSSSIL
YRYPFERLKMSADDGIRNLYLDFGGPEGELTMDLHSCPKPIVFVLHTFLSAKVTRMGLLV
NT seq 1623 nt   +upstreamnt  +downstreamnt
atgagggtagctgcggcgactgcggcggctggagcggggccggccatggcggtgtggacg
cgggccaccaaagcggggctggtggagctgctcctgagggagcgctgggtccgagtggtg
gccgagctgagcggggagagcctgagcctgacgggcgacgccgccgcggccgagctggag
cccgctctgggacccgcggccgccgccttcaacggcctcccaaacggcggcggcgcgggc
gactcgctgcccgggagcccaagccgcggcctggggcccccgagcccgccggcgccgcct
cggggccccgcgggtgaggcgggcgcgtcgccgcccgtgcgccgggtgcgggtggtgaag
caagaggcgggcggcctgggcatcagcatcaagggcggccgcgagaaccggatgccgatc
ctcatctccaagatcttccccgggctggctgccgaccagagccgggcgctgcggctgggc
gacgccatcctgtcggtgaacggcaccgacctgcgccaggccacccacgaccaggccgtg
caggcgctgaagcgcgcgggcaaggaggtgctgctggaggtcaagttcatccgagaagta
acaccatatatcaagaagccatcattagtatcagatctgccgtgggaaggtgcagccccc
cagtcaccaagctttagtggcagtgaggactctggttcgccaaaacaccagaacagcacc
aaggacaggaagatcatccctctcaaaatgtgctttgctgctagaaacctaagcatgccg
gatctggaaaacagattgatagagctacattctcctgatagcaggaacacgttgatccta
cgctgcaaagatacagccacagcacactcctggttcgtagctatccacaccaacataatg
gctctcctcccacaggtgttggctgaactcaacgccatgcttggggcaaccagtacagca
ggaggcagtaaagaggtgaagcatattgcctggctggcagaacaggcaaaactagatggt
ggaagacagcaatggagacctgtcctcatggctgtgactgagaaggatttgctgctctat
gactgtatgccgtggacaagagatgcctgggcgtcaccatgccacagctacccacttgtt
gccaccaggttggttcattctggctccggatgtcgatccccctcccttggatctgacctt
acatttgctaccaggacaggctctcgacagggcattgagatgcatctcttcagggtggag
acacatcgggatctgtcatcctggaccaggatacttgttcagggttgccatgctgctgct
gagctgatcaaggaagtctctctaggctgcatgttaaatggccaagaggtgaggcttact
attcactatgaaaatgggttcaccatctcaagggaaaatggaggctccagcagcatattg
taccgctacccctttgaaaggctgaagatgtctgctgatgatggcatccgaaatctatac
ttggattttggtggtcccgagggagaactgaccatggacctgcactcttgtccgaagccg
attgtatttgtgttgcacacgtttttatcggccaaagtcactcgtatgggactgcttgta
tga

KEGG   Homo sapiens (human): 1837
Entry
1837              CDS       T01001                                 
Symbol
DTNA, D18S892E, DRP3, DTN, DTN-A, LVNC1
Name
(RefSeq) dystrobrevin alpha
  KO
K26998  dystrobrevin alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04820  Cytoskeleton in muscle cells
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
hsa05416  Viral myocarditis
Network
nt06539  Cytoskeleton in muscle cells
  Element
N00465  Deleted DMD to dystrophin-associated protein complex
N01816  Costamere
Disease
H01216  Left ventricular noncompaction
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    1837 (DTNA)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    1837 (DTNA)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    1837 (DTNA)
   05414 Dilated cardiomyopathy
    1837 (DTNA)
   05416 Viral myocarditis
    1837 (DTNA)
SSDB
Motif
Pfam: EF-hand_2 EF-hand_3 ZZ SOGA Seryl_tRNA_N IATP ANCHR-like_BBOX
Other DBs
NCBI-GeneID: 1837
NCBI-ProteinID: NP_001381
OMIM: 601239
HGNC: 3057
Ensembl: ENSG00000134769
UniProt: Q9Y4J8
Structure
LinkDB
Position
18:34493312..34891844
AA seq 743 aa
MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIE
ALRENALNNLDPNTELNVSRLEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFD
PEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSGVMVYGRYDQFLREVLKLPTA
VFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHP
VECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLT
NALSKSLSCASSREPLHPMFPDQPEKPLNLAHIVDTWPPRPVTSMNDTLFSHSVPSSGSP
FITRSSPPKDSEVEQNKLLARAAPAFLKGKGIQYSLNVADRLADEHVLIGLYVNMLRNNP
SCMLESSNRLDEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELE
NKNREILQEIQRLRLEHEQASQPTPEKAQQNPTLLAELRLLRQRKDELEQRMSALQESRR
ELMVQLEGLMKLLKTQGAGSPRSSPSHTISRPIPMPIRSASACSTPTHTPQDSLTGVGGD
VQEAFAQSSRRNLRNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLV
PSPTSEKAFLAQIHARKPGYIHSGATTSTMRGDMVTEDADPYVQPEDENYENDSVRQLEN
ELQMEEYLKQKLQDEAYQVSLQG
NT seq 2232 nt   +upstreamnt  +downstreamnt
atgattgaagatagtgggaaaagaggaaataccatggcagaaagaagacagctgtttgca
gagatgagggctcaagatctggatcgcatccgactctccacctacagaacagcatgcaag
cttaggtttgttcagaagaaatgcaatttgcacctggtggacatatggaatgtcatagaa
gcattgcgggaaaatgctctgaacaacctggacccaaacactgaactcaacgtgtcccgc
ttagaggctgtgctctccactattttttaccagctcaacaaacggatgccaaccactcac
caaatccatgtggagcagtccatcagcctcctccttaacttcctgcttgcagcgtttgat
ccggaaggccatggtaaaatttcagtatttgctgtcaaaatggctttagccacattgtgt
ggagggaagatcatggacaaattaagatatattttctcaatgatttctgactccagtggg
gtgatggtttatggacgatatgaccaattccttcgggaagttctcaaactacccacggca
gtttttgaaggtccttcatttggttacacagaacagtcagccagatcctgtttctcccaa
cagaaaaaagtcacgttaaatggtttcttggacacgcttatgtcagatcctcccccgcag
tgtctggtctggttgcctcttctgcatcgactagcaaatgtggaaaatgtcttccatccg
gttgagtgttcctactgccacagtgagagtatgatgggatttcgctaccgatgccaacag
tgtcacaattaccagctctgtcaggactgcttctggaggggacatgccggtggttctcat
agcaaccagcaccaaatgaaagagtacacgtcatggaaatcacctgctaagaagctgact
aatgcattaagcaagtccctgagctgtgcttccagccgtgaacctttgcaccccatgttc
ccagatcagcctgagaagccactcaacttggctcacatcgttgatacttggcctcccaga
cctgtaaccagcatgaacgacaccctgttctcccactctgttccctcctcaggaagtcct
tttattaccaggagctctcctcccaaggacagtgaagtagagcagaacaaactgctggct
agggctgctccagcttttctgaagggcaaagggatacagtacagcctgaatgtggcagac
aggctagctgatgaacatgttctcatcgggttgtatgtcaacatgctccggaacaacccc
tcatgcatgcttgagagttcaaaccggcttgatgaagaacacaggctaattgccaggtat
gcggcaaggctggcagcagagtcctcttcgtctcagccacctcagcagagaagtgctcct
gacatctctttcaccatcgatgcgaataagcagcaaaggcagctgattgctgagctagaa
aacaagaacagagaaatcttacaggagatccagagacttcggctagagcatgaacaagct
tctcagcccacgccagagaaggcacagcaaaaccccaccctgctggcagaactccggctc
ctcagacagcgcaaagatgagctggaacagagaatgtctgctctccaggagagccggaga
gagctaatggtccagttggagggtctcatgaagctactaaagactcagggggcaggctct
ccccgctcctcccccagccacaccatcagcaggccaattcccatgcccatccggtcagcg
tcagcctgctccaccccgacgcacacgccgcaggactccctcacaggagtagggggagat
gtacaagaggcatttgcacaaagttcaagaagaaacttaaggaatgacttgctagtggct
gcagattccatcactaacactatgtcctctcttgtgaaagagctgaattctgaggttggg
agtgaaacagagagtaatgtggattctgaatttgcacggactcagtttgaggatcttgtt
ccctcaccaacctctgaaaaggcttttctagcgcaaatccatgcccgaaaacctgggtac
attcacagtggagctaccacaagtaccatgcgtggcgacatggttacggaggatgcagat
ccctatgtgcagcctgaagatgaaaactatgaaaatgactctgtccggcagctggagaat
gagctccagatggaggaatacctgaaacagaagctgcaagatgaagcttatcaggtcagc
ttgcaaggttga

KEGG   Homo sapiens (human): 2318
Entry
2318              CDS       T01001                                 
Symbol
FLNC, ABP-280, ABP280A, ABPA, ABPL, ARVC15, CMH26, FLN2, MFM5, MPD4, RCM5
Name
(RefSeq) filamin C
  KO
K27393  filamin-C
Organism
hsa  Homo sapiens (human)
Pathway
hsa04820  Cytoskeleton in muscle cells
Network
nt06539  Cytoskeleton in muscle cells
  Element
N01816  Costamere
N01820  Sarcomere, Z-disc
Disease
H00292  Hypertrophic cardiomyopathy
H00594  Distal myopathy
H00595  Myofibrillar myopathies
H01219  Restrictive cardiomyopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    2318 (FLNC)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    2318 (FLNC)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Cross-linking proteins
     2318 (FLNC)
  Intermediate filaments
   Intermediate filament-binding proteins
    2318 (FLNC)
SSDB
Motif
Pfam: Filamin CH Big_3_5 Invasin_D3 CFSR CH_2
Other DBs
NCBI-GeneID: 2318
NCBI-ProteinID: NP_001449
OMIM: 102565
HGNC: 3756
Ensembl: ENSG00000128591
UniProt: Q14315 Q59H94
Structure
LinkDB
Position
7:128830406..128859272
AA seq 2725 aa
MMNNSGYSDAGLGLGDETDEMPSTEKDLAEDAPWKKIQQNTFTRWCNEHLKCVGKRLTDL
QRDLSDGLRLIALLEVLSQKRMYRKFHPRPNFRQMKLENVSVALEFLEREHIKLVSIDSK
AIVDGNLKLILGLIWTLILHYSISMPMWEDEDDEDARKQTPKQRLLGWIQNKVPQLPITN
FNRDWQDGKALGALVDNCAPGLCPDWEAWDPNQPVENAREAMQQADDWLGVPQVIAPEEI
VDPNVDEHSVMTYLSQFPKAKLKPGAPVRSKQLNPKKAIAYGPGIEPQGNTVLQPAHFTV
QTVDAGVGEVLVYIEDPEGHTEEAKVVPNNDKDRTYAVSYVPKVAGLHKVTVLFAGQNIE
RSPFEVNVGMALGDANKVSARGPGLEPVGNVANKPTYFDIYTAGAGTGDVAVVIVDPQGR
RDTVEVALEDKGDSTFRCTYRPAMEGPHTVHVAFAGAPITRSPFPVHVSEACNPNACRAS
GRGLQPKGVRVKEVADFKVFTKGAGSGELKVTVKGPKGTEEPVKVREAGDGVFECEYYPV
VPGKYVVTITWGGYAIPRSPFEVQVSPEAGVQKVRAWGPGLETGQVGKSADFVVEAIGTE
VGTLGFSIEGPSQAKIECDDKGDGSCDVRYWPTEPGEYAVHVICDDEDIRDSPFIAHILP
APPDCFPDKVKAFGPGLEPTGCIVDKPAEFTIDARAAGKGDLKLYAQDADGCPIDIKVIP
NGDGTFRCSYVPTKPIKHTIIISWGGVNVPKSPFRVNVGEGSHPERVKVYGPGVEKTGLK
ANEPTYFTVDCSEAGQGDVSIGIKCAPGVVGPAEADIDFDIIKNDNDTFTVKYTPPGAGR
YTIMVLFANQEIPASPFHIKVDPSHDASKVKAEGPGLNRTGVEVGKPTHFTVLTKGAGKA
KLDVQFAGTAKGEVVRDFEIIDNHDYSYTVKYTAVQQGNMAVTVTYGGDPVPKSPFVVNV
APPLDLSKIKVQGLNSKVAVGQEQAFSVNTRGAGGQGQLDVRMTSPSRRPIPCKLEPGGG
AEAQAVRYMPPEEGPYKVDITYDGHPVPGSPFAVEGVLPPDPSKVCAYGPGLKGGLVGTP
APFSIDTKGAGTGGLGLTVEGPCEAKIECQDNGDGSCAVSYLPTEPGEYTINILFAEAHI
PGSPFKATIRPVFDPSKVRASGPGLERGKVGEAATFTVDCSEAGEAELTIEILSDAGVKA
EVLIHNNADGTYHITYSPAFPGTYTITIKYGGHPVPKFPTRVHVQPAVDTSGVKVSGPGV
EPHGVLREVTTEFTVDARSLTATGGNHVTARVLNPSGAKTDTYVTDNGDGTYRVQYTAYE
EGVHLVEVLYDEVAVPKSPFRVGVTEGCDPTRVRAFGPGLEGGLVNKANRFTVETRGAGT
GGLGLAIEGPSEAKMSCKDNKDGSCTVEYIPFTPGDYDVNITFGGRPIPGSPFRVPVKDV
VDPGKVKCSGPGLGAGVRARVPQTFTVDCSQAGRAPLQVAVLGPTGVAEPVEVRDNGDGT
HTVHYTPATDGPYTVAVKYADQEVPRSPFKIKVLPAHDASKVRASGPGLNASGIPASLPV
EFTIDARDAGEGLLTVQILDPEGKPKKANIRDNGDGTYTVSYLPDMSGRYTITIKYGGDE
IPYSPFRIHALPTGDASKCLVTVSIGGHGLGACLGPRIQIGQETVITVDAKAAGEGKVTC
TVSTPDGAELDVDVVENHDGTFDIYYTAPEPGKYVITIRFGGEHIPNSPFHVLACDPLPH
EEEPSEVPQLRQPYAPPRPGARPTHWATEEPVVPVEPMESMLRPFNLVIPFAVQKGELTG
EVRMPSGKTARPNITDNKDGTITVRYAPTEKGLHQMGIKYDGNHIPGSPLQFYVDAINSR
HVSAYGPGLSHGMVNKPATFTIVTKDAGEGGLSLAVEGPSKAEITCKDNKDGTCTVSYLP
TAPGDYSIIVRFDDKHIPGSPFTAKITGDDSMRTSQLNVGTSTDVSLKITESDLSQLTAS
IRAPSGNEEPCLLKRLPNRHIGISFTPKEVGEHVVSVRKSGKHVTNSPFKILVGPSEIGD
ASKVRVWGKGLSEGHTFQVAEFIVDTRNAGYGGLGLSIEGPSKVDINCEDMEDGTCKVTY
CPTEPGTYIINIKFADKHVPGSPFTVKVTGEGRMKESITRRRQAPSIATIGSTCDLNLKI
PGNWFQMVSAQERLTRTFTRSSHTYTRTERTEISKTRGGETKREVRVEESTQVGGDPFPA
VFGDFLGRERLGSFGSITRQQEGEASSQDMTAQVTSPSGKVEAAEIVEGEDSAYSVRFVP
QEMGPHTVAVKYRGQHVPGSPFQFTVGPLGEGGAHKVRAGGTGLERGVAGVPAEFSIWTR
EAGAGGLSIAVEGPSKAEIAFEDRKDGSCGVSYVVQEPGDYEVSIKFNDEHIPDSPFVVP
VASLSDDARRLTVTSLQETGLKVNQPASFAVQLNGARGVIDARVHTPSGAVEECYVSELD
SDKHTIRFIPHENGVHSIDVKFNGAHIPGSPFKIRVGEQSQAGDPGLVSAYGPGLEGGTT
GVSSEFIVNTLNAGSGALSVTIDGPSKVQLDCRECPEGHVVTYTPMAPGNYLIAIKYGGP
QHIVGSPFKAKVTGPRLSGGHSLHETSTVLVETVTKSSSSRGSSYSSIPKFSSDASKVVT
RGPGLSQAFVGQKNSFTVDCSKAGTNMMMVGVHGPKTPCEEVYVKHMGNRVYNVTYTVKE
KGDYILIVKWGDESVPGSPFKVKVP
NT seq 8178 nt   +upstreamnt  +downstreamnt
atgatgaacaacagcggctactcagacgccggcctcggcctgggcgatgagacagacgag
atgccgtccacggagaaggacctggcggaggacgcgccgtggaagaagatccagcagaac
acattcacgcgctggtgcaatgagcacctcaagtgcgtgggcaagcgcctgaccgacctg
cagcgcgacctcagcgacgggctccggctcatcgcgctgctcgaggtgctcagccagaag
cgcatgtaccgcaagttccatccgcgccccaacttccgccaaatgaagctggagaacgtg
tccgtggccctcgagttcctcgagcgcgagcacatcaagctcgtgtccatagacagcaag
gccatcgtggatgggaacctgaagctgatcctgggcctgatctggacgctgatcctgcac
tactccatctccatgcccatgtgggaggatgaagatgatgaggatgcccgcaaacagacg
cccaagcagcggctgcttggctggatccagaacaaggtgccccagctgcccatcaccaac
ttcaaccgtgactggcaggacggcaaagctctgggcgccctggtggacaactgcgccccc
ggtctctgccccgactgggaggcctgggaccccaaccagcccgtggagaacgcccgggag
gccatgcagcaggccgacgactggcttggggtgccccaggtcattgcccctgaggagatt
gtggaccccaacgtggatgagcattctgttatgacctacctgtcccagttccccaaggcc
aagctcaaacctggtgcccctgttcgatccaagcagctgaaccccaagaaagccatcgcc
tatgggcctggcatcgagccacagggcaacaccgtgctgcagcctgcccacttcaccgtg
cagacggtggacgcgggcgtgggcgaggtgctggtctacatcgaggaccctgaaggccac
accgaggaggctaaggtggttcccaacaatgacaaggatcgcacctatgctgtctcctat
gtgcccaaggtcgctgggttacacaaggtgaccgtgctctttgctggccagaacattgaa
cgcagtccctttgaggtgaacgtgggcatggccctgggagatgccaacaaggtgtcagcc
cgtggccctggcctggaacctgtgggcaatgtggccaacaaacccacctactttgacatc
tacactgcgggggccggcactggcgatgttgctgtggtgatcgtggacccacagggccgg
cgggacacagtggaggtggccctggaggacaagggtgacagcacgttccgctgcacatac
agacctgccatggaggggccacataccgtgcatgtggcctttgcgggtgcccccatcacc
cgcagtcccttccctgtccatgtgtcggaagcctgtaaccccaacgcctgccgcgcctct
gggcgaggcctgcagcccaagggtgttcgcgtgaaagaggtggctgacttcaaggtgttt
accaagggtgccggcagcggggagctcaaggtcacggtcaaggggccaaagggcacagag
gagccagtgaaggtgcgggaggctggggatggtgtgttcgagtgcgagtactacccggtg
gtgcctgggaagtatgtggtgaccatcacgtggggcggctacgccatccctcgcagcccc
tttgaggtacaggtgagcccagaggcaggagtgcaaaaggtccgggcctggggtcctggt
ttggagactggccaggtgggcaagtcagccgattttgtggtggaagccattggcaccgag
gtggggacactgggcttctccatcgaggggccctcacaagccaagatcgaatgtgacgac
aagggggatggctcctgcgatgtgcggtactggcccacggagcctggggagtacgctgtg
cacgtcatctgtgacgatgaggacatccgagactcacccttcattgcccacatcctgccc
gccccacctgactgcttcccagataaggtgaaggcctttgggcctggcctggagcctacc
ggctgcatcgtggacaagcccgctgagttcaccattgatgctcgtgcagctggcaaggga
gacctgaagctctatgcccaggacgccgacggctgtcccatcgacatcaaggtgatcccc
aacggcgacggcaccttccgctgctcctacgtgcccaccaagcccattaagcacaccatc
atcatctcctggggaggcgtaaacgtgcccaagagccccttccgggtgaacgtgggcgag
ggcagccaccccgagcgggtaaaggtgtacggccccggagtggagaagacaggcctcaag
gccaatgagcccacctacttcacggtggactgcagcgaggcggggcaaggcgacgtgagc
atcggcatcaagtgcgccccaggcgtggtgggccctgcagaggctgacattgacttcgac
atcatcaagaatgacaacgacaccttcaccgtcaagtacacgccaccaggggcgggccgc
tacaccatcatggtgctgtttgccaaccaggagatccccgccagccccttccacatcaag
gtggacccatcccacgatgccagcaaagtcaaggccgagggccctgggctgaatcgcaca
ggtgtggaagtcgggaagcccacccacttcacggtgctgaccaagggagccggcaaggcc
aagctggatgtgcagtttgcagggacagccaagggcgaggttgtgcgggactttgagatc
atagacaaccatgactactcctacactgtcaagtacaccgctgtccagcagggcaacatg
gcagtgacagtgacttatggcggggaccctgtccccaagagcccctttgtggtgaatgtg
gcacccccgctggacctcagcaaaatcaaagttcagggccttaatagcaaggtggctgtg
ggacaggaacaagcattctctgtgaacacacgaggggctggcggtcagggccaactggat
gtgcggatgacttcgccctctcgccggcccatcccctgcaagctggagccaggcggtgga
gcggaagcccaggctgtgcgctacatgcccccggaggaggggccctacaaggtggatatc
acctacgatggtcacccggtgcctggcagcccgtttgctgtggagggtgtcctgccccct
gatccctccaaggtctgtgcttatggcccgggtctcaagggtggactggtaggcaccccc
gcgccattctccatcgacaccaagggggctggcacaggtggcctggggctgaccgtagag
ggcccctgcgaggccaagatcgagtgccaggacaatggtgatggctcatgtgctgtcagc
tacctgcccacggagcctggcgagtacaccatcaacatcctgtttgctgaggcccacatc
cctggctcgcccttcaaagccaccattcggcctgtgtttgacccgagcaaggtgcgggcc
agtggaccgggcctggagcgcggcaaggtcggtgaggcagccaccttcactgtggactgc
tcagaggcaggcgaggcggagctgaccattgagatcctgtcggatgccggggtcaaggcc
gaggtgctgatccacaacaacgcggatggcacctaccacatcacctacagccctgccttc
cctggcacctacaccattaccatcaagtatggcgggcatcccgtgcccaaattccccacc
cgtgtccatgtgcagcctgcggtcgataccagtggcgtcaaggtctcagggcctggtgtt
gagccacacggtgtcctgcgggaggtgaccactgagttcactgtggatgcaagatcccta
acagccacaggcggcaaccacgtgacggctcgtgtgctcaacccctcgggggccaagaca
gacacctatgtgacagacaatggggacggcacctaccgagtgcagtacaccgcctacgag
gagggcgtgcatctggtggaggtcctgtatgatgaggtcgctgtgcccaagagccccttc
cgagtgggcgtgaccgagggctgtgatcccacccgcgtccgagccttcgggccaggcctg
gagggtggcttggtcaacaaggccaaccgattcactgtggagaccaggggagcgggcacc
gggggccttggcctagccatcgagggtccctcggaagccaagatgtcctgcaaggacaac
aaggatggtagctgcaccgtggagtacatccccttcactcctggagactatgacgtcaac
atcaccttcggggggcggcccatcccagggagcccgttccgcgtgccagtgaaggatgtg
gtggaccctgggaaggtgaagtgctcagggccagggctgggggctggtgtcagggcccgg
gttcctcagaccttcacagtggattgcagtcaagctggccgggcgcccctgcaggtggct
gtgctgggccccacaggtgtggccgagcctgtggaggtgcgggacaatggagatggcacc
cacactgtccactacaccccagccactgacgggccctacacggtagccgtcaagtatgct
gaccaggaggtgccacgcagccccttcaagatcaaggtcctcccagctcatgatgccagc
aaggtgcgggccagcggcccaggcctcaacgcctctggcatccctgccagcctgcctgtg
gagttcaccatcgacgcacgggacgcgggcgaggggttgctcactgtccagatcttggac
cccgagggtaagcccaagaaggccaacatccgggacaatggggatggcacgtacactgtg
tcctacctgccggacatgagtggccggtacaccatcaccatcaagtatggcggtgatgag
atcccctactcgcccttccgcatccatgctctgcccactggggatgccagcaagtgcctc
gtcacagtgtccattggaggccatggcctgggtgcctgcctgggccctcgaatccagatt
gggcaggagacggtgatcacggtggatgccaaggcagccggtgaggggaaggtgacatgc
acggtgtccacgccggatggggcagagctcgatgtggatgtggttgagaaccatgacggt
acctttgacatctactacacagcgcccgagccgggcaagtacgtcatcaccatccgcttc
gggggtgagcacatccccaacagccccttccacgtgctggcgtgtgaccccctgccgcac
gaggaggagccctctgaagtgccacagctgcgccagccctacgctcctccccggcccggc
gcccgccccacacactgggccacagaggagccagtggtgcctgtggagccaatggagtcc
atgctgaggcccttcaacctggtcatccccttcgcggtgcagaaaggggagctcacagga
gaggtgcggatgccctcggggaagacggcacggcccaacatcaccgacaacaaggacggc
accatcacggtgaggtatgcacccactgagaaaggcctgcaccagatggggatcaagtat
gacggcaaccacatccctgggagccccttacagttctatgtggatgccatcaacagccgc
catgtcagtgcctatgggccaggcctgagccatggcatggtcaacaagccagccaccttc
actattgtcaccaaagatgctggagaagggggtctgtcactggccgtggagggcccatcc
aaggcagagatcacctgtaaggacaacaaggatggcacctgcaccgtgtcctatctgccg
actgcgcctggagactacagcatcatcgtgcgcttcgatgacaagcacatcccggggagc
cccttcacagccaagatcacaggtgatgactccatgaggacctcacagctgaatgtgggc
acctccacggacgtgtcactgaagatcaccgagagtgatctgagccagctgaccgccagc
atccgtgccccctcgggcaacgaggagccctgcctgctgaagcgcctgcccaaccggcac
attgggatctccttcacccccaaggaggtcggggagcacgtggtgagcgtgcgcaagagt
ggcaagcatgtcaccaacagccccttcaagatcctggtggggccatctgagatcggggac
gccagcaaggtgcgggtctggggcaaggggctttccgagggacacacattccaggtggca
gagttcatcgtggacactcgcaatgcaggttatgggggcttggggctgagtattgaaggc
ccaagcaaggtggacatcaactgtgaggacatggaggacgggacatgcaaagtcacctac
tgccccaccgagcccggcacctacatcatcaacatcaagtttgctgacaagcacgtgcct
ggaagccccttcactgtgaaggtgaccggcgagggccgcatgaaggagagcatcacccgg
cggagacaggcaccttccatcgccaccatcggcagcacctgtgacctcaacctcaagatc
ccaggaaactggttccagatggtgtctgcccaggagcgcctgacacgcaccttcacacgc
agcagccacacctacacccgcacggagcgcacggagatcagcaagacgcggggcggggag
acaaagcgcgaggtgcgggtggaggagtccacccaggtcggcggggaccccttccctgct
gtgtttggggacttcctgggccgggagcgcctgggatccttcggcagcatcacccggcag
caggagggtgaggccagctctcaggacatgactgcacaggtgaccagcccatcgggcaag
gtggaagccgcagagatcgtcgagggcgaggacagcgcctacagcgtgcgctttgtgccc
caggaaatggggccccatacggtcgctgtcaagtaccgtggccagcacgtgcccggcagc
ccctttcagttcactgtggggccgctgggtgaaggtggtgcccacaaggtgcgggccgga
ggcacagggctggagcgaggtgtggccggcgtgccagccgagttcagcatctggacccgg
gaggctggcgctgggggcctgtccattgctgtggagggtcctagcaaagcggagattgca
tttgaggatcgcaaagatggctcctgcggcgtctcctatgtcgtccaggaaccaggtgac
tatgaggtctccatcaagttcaatgatgagcacatcccagacagcccctttgtggtgcct
gtggcctccctctcggatgacgctcgccgtctcactgtcaccagcctccaggagacgggg
ctcaaggtgaaccagccagcgtcctttgccgtgcagctgaacggtgcccggggcgtgatt
gatgcccgggtgcacacaccctcgggggctgtggaggagtgctacgtctctgagctggac
agtgacaagcacaccatccgcttcatcccccacgagaatggcgtccactccatcgatgtc
aagttcaacggtgcccacatccctggaagtcccttcaagatccgcgttggggagcagagc
caggctggggacccaggcttggtgtcagcctacggtcctgggctcgagggaggcactacc
ggtgtgtcatcagagttcatcgtgaacaccctgaatgccggctcgggggccttgtctgtc
accattgatggcccctccaaggtgcagctggactgtcgggagtgtcctgagggccatgtg
gtcacttatactcccatggcccctggcaactacctcattgccatcaagtacggtggcccc
cagcacatcgtgggcagccccttcaaggccaaggtcactggtccgaggctgtccggaggc
cacagccttcacgaaacatccacggttctggtggagactgtgaccaagtcctcctcaagc
cggggctccagctacagctccatccccaagttctcctcagatgccagcaaggtggtgact
cggggccctgggctgtcccaggccttcgtgggccagaagaactccttcaccgtggactgc
agcaaagcaggcaccaacatgatgatggtgggcgtgcacggccccaagaccccctgtgag
gaggtgtacgtgaagcacatggggaaccgggtgtacaatgtcacctacactgtcaaggag
aaaggggactacatcctcattgtcaagtggggtgacgaaagtgtccctggaagccccttc
aaagtcaaggtcccttga

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