KEGG   Homo sapiens (human): 81846
Entry
81846             CDS       T01001                                 
Symbol
SBF2, CMT4B2, DENND7B, MTMR13
Name
(RefSeq) SET binding factor 2
  KO
K18061  myotubularin-related protein 5/13
Organism
hsa  Homo sapiens (human)
Disease
H00264  Charcot-Marie-Tooth disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01009 Protein phosphatases and associated proteins [BR:hsa01009]
    81846 (SBF2)
Protein phosphatases and associated proteins [BR:hsa01009]
 Protein tyrosine phosphatases (PTPs)
  Class I PTPs (Dual specificity phosphatases)
   Myotubularins
    81846 (SBF2)
SSDB
Motif
Pfam: SBF2 Myotub-related DENN uDENN PH GRAM dDENN PH_11 PH_8 PH_2 PH_9 DUF2433
Other DBs
NCBI-GeneID: 81846
NCBI-ProteinID: NP_112224
OMIM: 607697
HGNC: 2135
Ensembl: ENSG00000133812
UniProt: Q86WG5
LinkDB
Position
11:complement(9778668..10304841)
AA seq 1849 aa
MARLADYFIVVGYDHEKPGSGEGLGKIIQRFPQKDWDDTPFPQGIELFCQPGGWQLSRER
KQPTFFVVVLTDIDSDRHYCSCLTFYEAEINLQGTKKEEIEGEAKVSGLIQPAEVFAPKS
LVLVSRLYYPEIFRACLGLIYTVYVDSLNVSLESLIANLCACLVPAAGGSQKLFSLGAGD
RQLIQTPLHDSLPITGTSVALLFQQLGIQNVLSLFCAVLTENKVLFHSASFQRLSDACRA
LESLMFPLKYSYPYIPILPAQLLEVLSSPTPFIIGVHSVFKTDVHELLDVIIADLDGGTI
KIPECIHLSSLPEPLLHQTQSALSLILHPDLEVADHAFPPPRTALSHSKMLDKEVRAVFL
RLFAQLFQGYRSCLQLIRIHAEPVIHFHKTAFLGQRGLVENDFLTKVLSGMAFAGFVSER
GPPYRSCDLFDELVAFEVERIKVEENNPVKMIKHVRELAEQLFKNENPNPHMAFQKVPRP
TEGSHLRVHILPFPEINEARVQELIQENVAKNQNAPPATRIEKKCVVPAGPPVVSIMDKV
TTVFNSAQRLEVVRNCISFIFENKILETEKTLPAALRALKGKAARQCLTDELGLHVQQNR
AILDHQQFDYIIRMMNCTLQDCSSLEEYNIAAALLPLTSAFYRKLAPGVSQFAYTCVQDH
PIWTNQQFWETTFYNAVQEQVRSLYLSAKEDNHAPHLKQKDKLPDDHYQEKTAMDLAAEQ
LRLWPTLSKSTQQELVQHEESTVFSQAIHFANLMVNLLVPLDTSKNKLLRTSAPGDWESG
SNSIVTNSIAGSVAESYDTESGFEDSENTDIANSVVRFITRFIDKVCTESGVTQDHIKSL
HCMIPGIVAMHIETLEAVHRESRRLPPIQKPKILRPALLPGEEIVCEGLRVLLDPDGREE
ATGGLLGGPQLLPAEGALFLTTYRILFRGTPHDQLVGEQTVVRSFPIASITKEKKITMQN
QLQQNMQEGLQITSASFQLIKVAFDEEVSPEVVEIFKKQLMKFRYPQSIFSTFAFAAGQT
TPQIILPKQKEKNTSFRTFSKTIVKGAKRAGKMTIGRQYLLKKKTGTIVEERVNRPGWNE
DDDVSVSDESELPTSTTLKASEKSTMEQLVEKACFRDYQRLGLGTISGSSSRSRPEYFRI
TASNRMYSLCRSYPGLLVVPQAVQDSSLPRVARCYRHNRLPVVCWKNSRSGTLLLRSGGF
HGKGVVGLFKSQNSPQAAPTSSLESSSSIEQEKYLQALLNAVSVHQKLRGNSTLTVRPAF
ALSPGVWASLRSSTRLISSPTSFIDVGARLAGKDHSASFSNSSYLQNQLLKRQAALYIFG
EKSQLRNFKVEFALNCEFVPVEFHEIRQVKASFKKLMRACIPSTIPTDSEVTFLKALGDS
EWFPQLHRIMQLAVVVSEVLENGSSVLVCLEEGWDITAQVTSLVQLLSDPFYRTLEGFQM
LVEKEWLSFGHKFSQRSSLTLNCQGSGFAPVFLQFLDCVHQVHNQYPTEFEFNLYYLKFL
AFHYVSNRFKTFLLDSDYERLEHGTLFDDKGEKHAKKGVCIWECIDRMHKRSPIFFNYLY
SPLEIEALKPNVNVSSLKKWDYYIEETLSTGPSYDWMMLTPKHFPSEDSDLAGEAGPRSQ
RRTVWPCYDDVSCTQPDALTSLFSEIEKLEHKLNQAPEKWQQLWERVTVDLKEEPRTDRS
QRHLSRSPGIVSTNLPSYQKRSLLHLPDSSMGEEQNSSISPSNGVERRAATLYSQYTSKN
DENRSFEGTLYKRGALLKGWKPRWFVLDVTKHQLRYYDSGEDTSCKGHIDLAEVEMVIPA
GPSMGAPKHTSDKAFFDLKTSKRVYNFCAQDGQSAQQWMDKIQSCISDA
NT seq 5550 nt   +upstreamnt  +downstreamnt
atggcccggctggctgactacttcatcgtggtaggctatgaccacgagaagccaggatca
ggagaaggtctggggaaaataatccagagatttccacagaaggactgggatgatacacct
tttccacagggaattgagttgttttgtcagcctggcgggtggcagctgtccagagagagg
aagcagccaacgttctttgtggttgtcctgacagacattgactcagatcgacattactgc
tcatgcctaaccttctatgaggcagagatcaatcttcagggaacaaagaaggaagagatt
gaaggtgaagcaaaagtgtctggtttaattcagcctgcagaagtgtttgctcccaaaagc
ctggtgttggtatccagattatattatccagaaatttttagggcttgcctgggtttgatc
tataccgtgtatgtggacagcctgaatgtctccttggaaagtctaattgcaaacctttgt
gcctgccttgtcccagcggctggagggtctcagaagctgttttctttgggtgcaggagat
agacagttgatccagactcctttacatgatagtcttcctatcacgggcactagtgtggct
ctcctgttccagcaattgggaattcaaaatgtcctcagcctcttttgtgcagtcctcaca
gaaaataaggttctcttccattctgcaagtttccagagacttagtgatgcttgtagagcc
ctggaatctttaatgtttcctcttaaatatagttatccttatatccctattctcccggct
cagctactggaagttctaagttccccaacgcctttcattattggagtacattctgtcttt
aaaactgatgtccatgaacttttagatgtaatcatagcagatttggatggaggcactatt
aaaattcccgaatgtattcacctctcttccctcccagaaccacttctacatcagactcaa
tcagctctttctttgattttacacccagatttggaagtagcagatcatgcttttcctcct
ccacgaacagctttatcccactcaaaaatgctggataaagaggtgcgagccgttttcctt
agattatttgcacaactcttccaaggatatagatcctgcctgcaacttataagaattcat
gcagagccagtaatacatttccacaagacagcattcttggggcagcgtggtttggtcgag
aatgatttcctcactaaagtactcagtggaatggcatttgcaggttttgtttcagaaaga
ggtcctccttatagatcttgtgatctctttgatgagttggtagcctttgaagtagagaga
attaaagttgaagaaaataacccagtgaagatgataaagcatgtcagggaacttgctgag
caactattcaaaaatgagaatccaaatcctcatatggcattccagaaagttccacggcca
acagaaggatcccatttgcgagttcatattcttcctttcccagagattaatgaagcccgg
gttcaggaattaatacaggaaaatgttgctaagaaccagaatgcacctcctgccacacga
atagaaaagaaatgtgttgtgccagcaggtccacctgttgtttcgataatggacaaggtg
acgacagttttcaacagtgcacaaagactagaagttgtcagaaactgtatctcattcata
tttgaaaataaaattttggaaactgaaaagacccttcctgctgcactcagagcccttaaa
ggaaaggcagcaagacagtgtctcactgatgaattgggtttgcatgtccagcaaaaccgg
gcaatattagaccatcaacagtttgactacataataaggatgatgaattgtactctacag
gattgttcaagtttagaagaatacaacattgccgcagcattactccctttgaccagtgct
ttctataggaaacttgcccctggagtcagccagtttgcttacacgtgtgtacaagaccac
cccatttggacaaatcagcaattttgggagacaaccttttacaatgcagtgcaggaacag
gttcgctccctttatctctcagccaaggaagacaatcatgccccgcatctgaagcaaaag
gataagcttcctgatgaccattatcaggagaagacagcaatggacctggcagctgagcaa
ctacgcctttggcctaccctgagcaagtcaactcagcaagagctagtgcaacatgaggaa
agcactgtctttagtcaggccattcactttgcaaacctcatggtgaacctgctagttcca
ctcgacacaagtaaaaacaagctcctaagaacatcagcgccaggtgactgggagagcgga
agcaacagcattgtcacaaacagtattgcaggaagtgtagctgagagctatgatacagag
agtgggtttgaagattcagagaatactgacattgccaattctgttgtgcggttcattacc
cgatttattgacaaagtttgtacagagagtggagttactcaggatcacatcaagagcctt
cattgcatgataccaggaattgtagctatgcacattgagaccctagaagcagtacatcga
gaaagcagaagacttccgcctattcagaagcccaagattcttagacctgctctgctgcca
ggagaagaaattgtctgtgagggtcttcgagtcttgctggatcctgatggaagagaagaa
gctactggaggtcttcttggaggccctcagctcctgccagcagaaggagccttgttcctc
accacatacagaattctcttcagaggaacaccccatgatcagttagtgggtgagcagaca
gttgtgcggagctttcccattgcctccatcaccaaggagaagaagattacaatgcagaac
cagctacagcagaacatgcaagaaggactgcagatcacatcagcatcttttcagttgatt
aaggtagcatttgatgaagaagtcagtccagaagtagtagagatctttaagaaacagctg
atgaagttccgttatcctcagtccattttcagtacctttgcttttgctgctggacaaact
accccacaaataattttaccaaaacagaaggaaaagaacacttcttttcgtaccttctca
aaaacaattgtgaaaggtgccaaaagggcagggaaaatgacaattgggcggcaatattta
ctgaagaagaagacagggacaattgtggaagaaagagtaaatcgtcctggatggaatgaa
gatgatgatgtatctgtttcagatgagagtgagctccccacaagtaccaccctgaaggcc
tccgagaagtctacaatggaacagttggtggaaaaagcttgtttcagagactatcagcgt
ttaggtttaggaaccataagtggcagctcttcccgttcaagacccgagtattttagaatt
actgcctccaacaggatgtattcactctgccggagctatcctggccttttagtcgtacct
caagctgtacaggacagtagtttaccaagagtagctcgctgctatcgacacaatcgcctg
cctgttgtatgttggaagaactcaagaagtggtactctgctcctccgatctggaggattc
catgggaagggagtcgttggtcttttcaaatctcagaactcccctcaggccgctcctacc
tcctctttagaatcttccagtagcatagaacaagagaaatacttgcaagccttactgaat
gctgtttctgtccatcagaaactcagaggcaacagcactcttactgtcaggccagccttt
gctctatctccaggtgtgtgggcaagtcttcgctctagcactcgcttgatcagctctcca
acatccttcattgatgttggcgcccggctggcaggcaaggatcactcggcctccttcagt
aacagcagctacctacaaaaccagctcttgaaacggcaagcagccctttacatatttggt
gaaaagtcgcaactaaggaacttcaaggtagaatttgctttaaattgtgagtttgttcct
gttgaatttcatgaaatccggcaagtgaaagccagttttaagaagctgatgagggcttgt
atcccaagcaccatccctactgactcagaagtgaccttcctgaaagcgctgggagattct
gagtggttcccacagcttcacaggataatgcagctggctgtggttgtatcagaagtactt
gagaatggttcctcagttttggtctgtttggaggaaggctgggacatcactgcacaagtg
acatccctggttcagttactcagtgatcccttttataggacacttgaaggcttccagatg
ttggttgaaaaagagtggctctcttttggtcacaaattcagtcagaggagcagcttgacc
ctcaactgtcaggggagtggttttgctccagtcttcttacagttcttagactgtgtacac
caggttcacaaccagtatccaactgagtttgaattcaatctctattacttaaagttcttg
gctttccactatgtgtctaatcgctttaaaacatttctcctggattcagactatgaaaga
ttagagcacggaactttatttgatgataaaggagaaaagcatgccaaaaaaggagtctgt
atttgggaatgtattgacagaatgcacaagaggagtcccattttctttaattatttatat
tcaccattggaaatagaggctctaaagcccaatgtaaacgtctctagcctcaagaagtgg
gattactacatagaagagaccctgtccacaggcccttcctatgactggatgatgctaacc
cccaagcacttcccctccgaagactctgacctggctggagaagctgggccacggagccag
aggagaacagtgtggccatgctatgatgatgtcagctgtactcagcctgatgctctcacc
agccttttcagtgaaattgaaaaattggagcacaaattgaaccaagcccctgagaagtgg
cagcagctgtgggaaagggtaaccgtggaccttaaagaagaaccaagaacagatcgctcc
caaagacacctgtcgagatccccaggaattgtgtctaccaacctaccttcctatcagaag
aggtctctgctacatctcccagacagcagcatgggggaggaacagaattccagcatctcc
ccatccaatggagtggagcgaagagcagccacgctctatagccagtatacatccaagaat
gatgaaaacaggtcctttgagggaacactttataaaagaggggctttgctgaaaggttgg
aagccccgttggtttgttttggatgtaacaaaacatcagctgcgctactatgactcaggt
gaggacacaagctgtaaaggccacattgatctggctgaagtagaaatggtcatccctgct
ggccccagcatgggagccccaaagcacacaagtgacaaggctttctttgatctcaagacc
agcaaacgtgtgtataacttctgcgcccaggatggacagagtgcccagcaatggatggac
aagatccagagttgtatctctgatgcctga

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