Homo sapiens (human): 6712
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Spectrin
CH
PH_9
PH
CAMSAP_CH
Motif
Other DBs
NCBI-GeneID:
6712
NCBI-ProteinID:
NP_008877
OMIM:
604985
HGNC:
11276
Ensembl:
ENSG00000173898
Pharos:
O15020
(Tbio)
UniProt:
O15020
Structure
PDB
LinkDB
All DBs
Position
11:complement(66682497..66744682)
Genome browser
AA seq
2390 aa
AA seq
DB search
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
NT seq
+upstream
nt +downstream
nt
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
DBGET
integrated database retrieval system
