KEGG   Homo sapiens (human): 6712
Entry
6712              CDS       T01001                                 
Symbol
SPTBN2, GTRAP41, SCA5, SCAR14
Name
(RefSeq) spectrin beta, non-erythrocytic 2
  KO
K23932  spectrin beta, non-erythrocytic 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa05017  Spinocerebellar ataxia
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06410  Calcium signaling
nt06462  Spinocerebellar ataxia
  Element
N00960  Mutation-caused aberrant SPTBN2 to mGluR1-TRPC3 signaling pathway
Disease
H00063  Spinocerebellar ataxia (SCA)
H01891  Autosomal recessive spinocerebellar ataxias
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05017 Spinocerebellar ataxia
    6712 (SPTBN2)
   05022 Pathways of neurodegeneration - multiple diseases
    6712 (SPTBN2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    6712 (SPTBN2)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Cross-linking proteins
     6712 (SPTBN2)
  Intermediate filaments
   Intermediate filament-binding proteins
    6712 (SPTBN2)
SSDB
Motif
Pfam: Spectrin CH PH_9 PH CAMSAP_CH
Other DBs
NCBI-GeneID: 6712
NCBI-ProteinID: NP_008877
OMIM: 604985
HGNC: 11276
Ensembl: ENSG00000173898
Pharos: O15020(Tbio)
UniProt: O15020
Structure
LinkDB
Position
11:complement(66682497..66744682)
AA seq 2390 aa
MSSTLSPTDFDSLEIQGQYSDINNRWDLPDSDWDNDSSSARLFERSRIKALADEREAVQK
KTFTKWVNSHLARVTCRVGDLYSDLRDGRNLLRLLEVLSGEILPKPTKGRMRIHCLENVD
KALQFLKEQKVHLENMGSHDIVDGNHRLTLGLVWTIILRFQIQDISVETEDNKEKKSAKD
ALLLWCQMKTAGYPNVNVHNFTTSWRDGLAFNAIVHKHRPDLLDFESLKKCNAHYNLQNA
FNLAEKELGLTKLLDPEDVNVDQPDEKSIITYVATYYHYFSKMKALAVEGKRIGKVLDHA
MEAERLVEKYESLASELLQWIEQTIVTLNDRQLANSLSGVQNQLQSFNSYRTVEKPPKFT
EKGNLEVLLFTIQSKLRANNQKVYTPREGRLISDINKAWERLEKAEHERELALRTELIRQ
EKLEQLAARFDRKAAMRETWLSENQRLVSQDNFGLELAAVEAAVRKHEAIETDIVAYSGR
VQAVDAVAAELAAERYHDIKRIAARQHNVARLWDFLRQMVAARRERLLLNLELQKVFQDL
LYLMDWMEEMKGRLQSQDLGRHLAGVEDLLQLHELVEADIAVQAERVRAVSASALRFCNP
GKEYRPCDPQLVSERVAKLEQSYEALCELAAARRARLEESRRLWRFLWEVGEAEAWVREQ
QHLLASADTGRDLTGALRLLNKHTALRGEMSGRLGPLKLTLEQGQQLVAEGHPGASQASA
RAAELQAQWERLEALAEERAQRLAQAASLYQFQADANDMEAWLVDALRLVSSPELGHDEF
STQALARQHRALEEEIRSHRPTLDALREQAAALPPTLSRTPEVQSRVPTLERHYEELQAR
AGERARALEAALALYTMLSEAGACGLWVEEKEQWLNGLALPERLEDLEVVQQRFETLEPE
MNTLAAQITAVNDIAEQLLKANPPGKDRIVNTQEQLNHRWQQFRRLADGKKAALTSALSI
QNYHLECTETQAWMREKTKVIESTQGLGNDLAGVLALQRKLAGTERDLEAIAARVGELTR
EANALAAGHPAQAVAINARLREVQTGWEDLRATMRRREESLGEARRLQDFLRSLDDFQAW
LGRTQTAVASEEGPATLPEAEALLAQHAALRGEVERAQSEYSRLRALGEEVTRDQADPQC
LFLRQRLEALGTGWEELGRMWESRQGRLAQAHGFQGFLRDARQAEGVLSSQEYVLSHTEM
PGTLQAADAAIKKLEDFMSTMDANGERIHGLLEAGRQLVSEGNIHADKIREKADSIERRH
KKNQDAAQQFLGRLRDNREQQHFLQDCHELKLWIDEKMLTAQDVSYDEARNLHTKWQKHQ
AFMAELAANKDWLDKVDKEGRELTLEKPELKALVSEKLRDLHRRWDELETTTQAKARSLF
DANRAELFAQSCCALESWLESLQAQLHSDDYGKDLTSVNILLKKQQMLEWEMAVREKEVE
AIQAQAKALAQEDQGAGEVERTSRAVEEKFRALCQPMRERCRRLQASREQHQFHRDVEDE
ILWVTERLPMASSMEHGKDLPSVQLLMKKNQTLQKEIQGHEPRIADLRERQRALGAAAAG
PELAELQEMWKRLGHELELRGKRLEDALRAQQFYRDAAEAEAWMGEQELHMMGQEKAKDE
LSAQAEVKKHQVLEQALADYAQTIHQLAASSQDMIDHEHPESTRISIRQAQVDKLYAGLK
ELAGERRERLQEHLRLCQLRRELDDLEQWIQEREVVAASHELGQDYEHVTMLRDKFREFS
RDTSTIGQERVDSANALANGLIAGGHAARATVAEWKDSLNEAWADLLELLDTRGQVLAAA
YELQRFLHGARQALARVQHKQQQLPDGTGRDLNAAEALQRRHCAYEHDIQALSPQVQQVQ
DDGHRLQKAYAGDKAEEIGRHMQAVAEAWAQLQGSSAARRQLLLDTTDKFRFFKAVRELM
LWMDEVNLQMDAQERPRDVSSADLVIKNQQGIKAEIEARADRFSSCIDMGKELLARSHYA
AEEISEKLSQLQARRQETAEKWQEKMDWLQLVLEVLVFGRDAGMAEAWLCSQEPLVRSAE
LGCTVDEVESLIKRHEAFQKSAVAWEERFCALEKLTALEEREKERKRKREEEERRKQPPA
PEPTASVPPGDLVGGQTASDTTWDGTQPRPPPSTQAPSVNGVCTDGEPSQPLLGQQRLEH
SSFPEGPGPGSGDEANGPRGERQTRTRGPAPSAMPQSRSTESAHAATLPPRGPEPSAQEQ
MEGMLCRKQEMEAFGKKAANRSWQNVYCVLRRGSLGFYKDAKAASAGVPYHGEVPVSLAR
AQGSVAFDYRKRKHVFKLGLQDGKEYLFQAKDEAEMSSWLRVVNAAIATASSASGEPEEP
VVPSTTRGMTRAMTMPPVSPVGAEGPVVLRSKDGREREREKRFSFFKKNK
NT seq 7173 nt   +upstreamnt  +downstreamnt
atgagcagcacgctgtcacccacagactttgacagcttggaaatccagggccagtacagt
gacatcaacaaccgctgggaccttcctgactcggactgggacaatgacagcagctcggcc
cgcctctttgagaggtctcgcattaaggctctggcagatgaacgagaagctgtgcagaag
aaaaccttcaccaagtgggtaaactcgcacctggcccgggtcacgtgccgggtgggggac
ctgtacagcgacctccgggacggacgcaacctgctgaggctcctcgaggtgctctcggga
gagatactgccaaagcctacaaagggccgcatgcggatccactgcctggagaacgtggac
aaggcactgcagttcctcaaggagcagaaagtgcacttggaaaacatgggctcccatgac
attgtggacggaaaccaccgactgacccttgggctggtctggaccatcatccttcgattc
cagatccaagacatcagtgtggagacagaagacaacaaggagaagaagtcagccaaggat
gccctgcttctgtggtgccagatgaagactgcaggttatcccaacgtcaatgtacacaac
ttcaccaccagctggagagatggactagctttcaacgccatcgtgcataaacaccggcca
gacctgctggattttgagtctctgaagaagtgtaatgcacactataatctgcagaatgca
ttcaatctggctgaaaaggaactgggacttaccaagctgctggatcccgaagacgtgaat
gtggaccagccagatgagaagtcaatcattacctatgtggctacttactaccattacttc
tccaagatgaaggccctggccgtggaaggcaagagaattggcaaggtgctggaccatgcc
atggaggcagagcgcctggtggagaaatacgagtccctggcctcggagctgctgcagtgg
atcgagcaaacgatcgtgaccctcaatgaccggcagttggccaactcccttagcggggtc
cagaaccagctgcagtccttcaactcctaccgcaccgtggagaagccgcccaagtttacc
gagaaagggaacttggaagtgctgctcttcaccatccagagcaagcttcgggccaacaac
cagaaggtctacacgccccgcgagggccggctcatctcggacatcaacaaggcttgggag
cggctggagaaggcggagcacgagcgtgagctggccctgcgcaccgagctcatccgccag
gagaagctggagcagctggccgcccgcttcgaccgcaaggctgccatgcgggagacctgg
ctcagcgagaaccagcgcctcgtgtcccaggacaactttgggctggagctggcagctgtc
gaggcagcagtacggaagcacgaagccattgagacggacatcgtggcctacagcggccgg
gtgcaggcagtggacgccgtggctgcagagctggccgccgagcgctaccacgacatcaag
cgcatcgccgctcggcagcacaacgtggcacggctctgggacttcttgcggcagatggtg
gccgcccggcgggagcggctcctcctcaacctggagctgcagaaggtgttccaggacctg
ctctacctcatggactggatggaagagatgaagggccggctgcagtctcaggacctgggc
aggcacctagcaggagtggaggacctgctgcagctgcacgagctggtggaggcagacatc
gccgtgcaggccgagagggtgcgggccgtcagcgcctctgccctgcgcttctgcaaccca
gggaaagagtatagaccttgcgacccgcagctggtgtcggagcgggtggccaagctagag
cagagctatgaggcactgtgcgagttggcagcggcgcggcgggcccggctggaggaatca
cggcggctctggcgtttcctctgggaggtgggtgaagctgaggcctgggtgcgggagcag
cagcacctcctggcctcagccgacacgggccgagacctgaccggtgccctccgcctgctc
aacaagcacacagccctgcggggcgagatgagcggccggctggggcccctgaagctcacc
ctggagcagggccagcagttggtggccgagggtcaccctggggcaagccaggcctctgcc
cgtgcagctgaactccaagcccagtgggagcggctagaggccctggccgaggagcgtgcc
cagcggctggcccaagccgccagcctctaccagttccaggccgatgcaaacgacatggag
gcctggttggttgacgcactgcgcctggtgtccagccccgagctggggcacgacgagttc
tccacgcaggctctagccaggcagcatcgggccctggaggaggagattcgaagccaccgg
ccaaccctggacgccttgagggaacaggcagcagccctgccccccacactgagccgcacg
cccgaggtgcagagccgggtgcccaccctggagcggcactacgaggagctgcaggcccgg
gcaggcgagcgagcgcgggccttggaggcagccctggcgctctacaccatgctcagcgag
gccggggcctgtggactctgggtggaggagaaggagcagtggctcaacgggctggccctg
cctgaacgcctggaggacctggaggtcgtgcagcagaggttcgagaccctggagcctgaa
atgaacacccttgcagcacaaatcaccgcggtgaatgacattgccgagcagttactgaag
gccaaccccccaggcaaagaccgcattgtcaacacccaggagcagctcaaccacaggtgg
cagcagtttcggcgtctggcagacggcaagaaggcagctctcacctcagccctgagcatc
cagaactaccacttagagtgcacggagacccaggcctggatgagagagaagaccaaagtc
atcgagtccacccagggcctaggcaacgatctggctggggtgctggccctgcagcgcaag
ctggccggcacggagcgggacctggaggccatcgccgcccgggtgggcgaactgactcga
gaggcaaatgccctggctgccggccatcccgctcaggcagtggccatcaacgcccggctg
agagaggtgcagaccggctgggaggacctcagggccaccatgcggcgtcgagaagagtcg
ctgggggaggcgcggcggctgcaggacttcttgcgcagcttggatgacttccaggcctgg
ctaggccgcactcagactgctgtggcctctgaagaagggccggccaccctgcctgaggca
gaggccctcctggcccaacatgcagccctgcggggagaggtggagcgggcccagagcgag
tatagccggctgcgagccctgggcgaggaggtgacccgggaccaggctgacccccagtgc
ctcttcctacgacagcgactggaggccctgggaactggctgggaggagctgggccgaatg
tgggagagccggcaaggtcgcctggcccaggcccacggcttccagggattcctgcgggat
gctcgtcaggctgagggcgtgctcagcagccaggaatatgttctgtctcacacggagatg
ccagggacactccaggctgctgatgctgccattaaaaaactggaggacttcatgagcacc
atggacgccaatggggaacggatccacgggctcctggaggctggccgccagctggtatct
gaaggcaacatccacgccgacaagattcgggaaaaggcagactccattgagaggaggcac
aagaagaatcaagacgcagcgcagcaatttctgggccgtcttcgggacaaccgggagcag
cagcatttcctgcaagattgtcacgagctgaagctctggatcgacgagaagatgctgaca
gcccaggacgtgtcctatgacgaggcccgcaacctgcatactaagtggcagaagcaccag
gcattcatggccgagctggctgccaacaaagactggctggacaaggtggacaaggaaggg
cgagagctcacccttgagaagccagagctgaaagccctggtgtcggagaagctgagagac
ctgcacaggcgctgggacgagctggagaccaccacccaagccaaggcccgcagcctcttt
gatgccaaccgagctgagctgtttgcccagagctgctgtgccctggagagctggctggag
agcctgcaggcccagctgcactcggatgactacggcaaggacctcaccagcgtcaacatc
ctgctcaagaagcagcagatgctggaatgggagatggctgtgagagagaaggaggtggag
gcaatccaggcccaggccaaagcactggcccaggaggaccagggtgcaggggaggtggag
agaacctcgagggccgtggaggagaagttcagggccttgtgccagcccatgcgggaacgc
tgccggcgcctgcaggcttctcgcgagcagcaccagttccaccgcgatgtggaagatgag
attttgtgggtgacagagcggctgcccatggccagctccatggagcatggcaaggacctg
cccagcgtccagcttctcatgaagaaaaaccagaccctgcagaaagagattcagggccat
gagccccggatcgcggacctgagggagcggcagcgtgctctaggtgcagcagcagcaggt
ccagagctggctgagctgcaggaaatgtggaaacgcctgggccacgagctggaacttcga
gggaagcgactggaggatgccctgcgagcccagcagttctaccgcgatgccgccgaggcg
gaggcctggatgggcgagcaggaattacacatgatgggccaggagaaggccaaggatgag
ctgagtgcccaggcagaggtgaagaagcaccaggtgctggagcaagccctggccgactac
gcgcagaccatccaccagctggcggccagcagccaggacatgattgaccacgagcaccca
gagagcactcggatatccatccgccaagcccaggtggacaagctgtatgccggcctgaag
gagctggctggagagcggcgggagcgcctgcaggagcacctccggctgtgccagctccgc
cgcgagctggatgacctggaacagtggatccaggagcgcgaggtggtggcggcctcccac
gagctgggccaggactacgagcatgtgactatgctccgagacaaattccgagagttctcc
cgggacacaagcaccatcggtcaggagcgcgtagatagcgccaatgcgctggccaatggg
ctcattgctgggggccatgctgcacgggccaccgtggccgagtggaaggacagtctcaac
gaggcctgggctgacctgcttgagctgctggacacacggggtcaggtgctggccgcggcg
tacgagctgcagcgcttcctgcacggggcacgccaagccctggcgcgggtgcagcacaag
cagcagcagcttccggacgggactggccgcgacctcaacgctgccgaggccctgcagcgc
cgacactgtgcctacgagcatgacattcaggccctcagcccccaggtccagcaggtgcag
gacgacggccaccggctccagaaggcctacgctggagacaaggctgaggagatcggccgc
cacatgcaggccgtggccgaggcctgggcccagcttcagggaagctctgccgcccgccgg
cagctgctgctggacaccacagacaagttccgcttcttcaaggctgtccgggaactgatg
ctctggatggatgaggtcaacctgcagatggatgcccaggagcgtccccgggatgtgtcc
tccgcggatctagtcatcaagaaccagcaaggcatcaaggcagagatagaggcccgggca
gaccgcttctcctcctgcatcgacatggggaaggagctgctggccaggagccactatgcg
gccgaggagatctcagagaagctgtctcagctgcaggcacggcgccaggagacagctgag
aagtggcaggagaagatggactggcttcagctggttttggaggtgcttgtgtttggaaga
gatgcagggatggcagaggcctggctctgcagccaggagccactggtgcgcagcgctgag
ctgggttgcacggtcgacgaagttgagagcctcatcaagcggcacgaggccttccagaag
tcagcagtggcctgggaggagcgattctgtgcgctggagaagcttactgcgctagaggag
cgggagaaggagcgaaagagaaagagggaggaggaggagcggcggaaacagccgcctgct
cccgaacccacagccagtgtgcctccaggggacctggtgggcggccagacagcttctgac
accacctgggacggaacccagccacggccaccaccatccacacaagcacccagtgttaat
ggagtctgcacagatggagagccctcacagcccctgctgggacaacagagacttgagcac
agcagcttccccgaagggccgggacctggctcaggggacgaagccaatgggccccgggga
gagaggcagacccggactcggggcccggccccatctgcaatgccccagagcaggtctacc
gagtcagcccatgctgccaccctgccgcctcgaggcccagagccatctgcccaggagcag
atggaggggatgctgtgccgcaagcaggagatggaggccttcgggaagaaggctgccaac
aggtcctggcagaacgtgtactgtgtcctgcggcgtgggagcctcggcttttacaaggat
gccaaggcagccagcgcgggagtgccataccacggagaagtgcctgtcagcctggccagg
gcccagggcagcgtcgcctttgattaccgaaagcgcaaacatgtcttcaagctgggctta
caggatggaaaagaatatttattccaggccaaggatgaggcagagatgagctcgtggcta
cgggtggtgaatgcagccattgccacagcgtcttctgcctctggagagcctgaagagccg
gtggtgcccagcaccacccggggcatgacccgggccatgaccatgcccccagtgtcaccc
gtcggggctgaggggcctgttgtgctccgcagcaaagacggcagagaacgagagcgagaa
aaacgcttcagcttctttaagaagaacaagtag

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