Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6711
Gene name Gene Name - the full gene name approved by the HGNC.
Spectrin beta, non-erythrocytic 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SPTBN1
Synonyms (NCBI Gene) Gene synonyms aliases
DDISBA, ELF, HEL102, SPTB2, betaSpII
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DDISBA
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p16.2
Summary Summary of gene provided in NCBI Entrez Gene.
Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is compo
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT021336 hsa-miR-9-5p Microarray 17612493
MIRT024854 hsa-miR-215-5p Microarray 19074876
MIRT025300 hsa-miR-34a-5p Proteomics 21566225
MIRT025300 hsa-miR-34a-5p Proteomics 21566225
MIRT026166 hsa-miR-192-5p Microarray 19074876
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade TAS
GO:0000281 Process Mitotic cytokinesis IMP 17620337
GO:0003723 Function RNA binding HDA 22681889
GO:0003779 Function Actin binding IEA
GO:0005200 Function Structural constituent of cytoskeleton IMP 17620337
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
182790 11275 ENSG00000115306
Protein
UniProt ID Q01082
Protein name Spectrin beta chain, non-erythrocytic 1 (Beta-II spectrin) (Fodrin beta chain) (Spectrin, non-erythroid beta chain 1)
Protein function Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane. Plays a critical role in central nervous syste
PDB 1AA2 , 1BKR , 3EDV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00307 CH 54 159 Calponin homology (CH) domain Domain
PF00307 CH 173 279 Calponin homology (CH) domain Domain
PF00435 Spectrin 302 412 Spectrin repeat Domain
PF00435 Spectrin 422 526 Spectrin repeat Domain
PF00435 Spectrin 528 636 Spectrin repeat Domain
PF00435 Spectrin 638 742 Spectrin repeat Domain
PF00435 Spectrin 744 847 Spectrin repeat Domain
PF00435 Spectrin 849 953 Spectrin repeat Domain
PF00435 Spectrin 955 1060 Spectrin repeat Domain
PF00435 Spectrin 1062 1167 Spectrin repeat Domain
PF00435 Spectrin 1169 1272 Spectrin repeat Domain
PF00435 Spectrin 1275 1378 Spectrin repeat Domain
PF00435 Spectrin 1380 1483 Spectrin repeat Domain
PF00435 Spectrin 1485 1590 Spectrin repeat Domain
PF00435 Spectrin 1592 1696 Spectrin repeat Domain
PF00435 Spectrin 1698 1803 Spectrin repeat Domain
PF00435 Spectrin 1805 1909 Spectrin repeat Domain
PF00435 Spectrin 1912 2015 Spectrin repeat Domain
PF00435 Spectrin 2017 2100 Spectrin repeat Domain
PF00169 PH 2198 2307 PH domain Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 2 is present in brain, lung and kidney (at protein level). {ECO:0000269|PubMed:11665863}.
Sequence
MTTTVATDYDNIEIQQQYSDVNNRWDVDDWDNENSSARLFERSRIKALADEREAVQKKTF
TKWVNSHLARVSCRITDLYTDLRDGRMLIKLLEVLSGERLPKPTKGRMRIHCLENVDKAL
QFLKEQRVHLENMGSHDIVDGNHRLTLGLIWTIILRFQI
QDISVETEDNKEKKSAKDALL
LWCQMKTAGYPNVNIHNFTTSWRDGMAFNALIHKHRPDLIDFDKLKKSNAHYNLQNAFNL
AEQHLGLTKLLDPEDISVDHPDEKSIITYVVTYYHYFSK
MKALAVEGKRIGKVLDNAIET
EKMIEKYESLASDLLEWIEQTIIILNNRKFANSLVGVQQQLQAFNTYRTVEKPPKFTEKG
NLEVLLFTIQSKMRANNQKVYMPREGKLISDINKAWERLEKAEHERELALRN
ELIRQEKL
EQLARRFDRKAAMRETWLSENQRLVSQDNFGFDLPAVEAATKKHEAIETDIAAYEERVQA
VVAVARELEAENYHDIKRITARKDNVIRLWEYLLELLRARRQRLEM
NLGLQKIFQEMLYI
MDWMDEMKVLVLSQDYGKHLLGVEDLLQKHTLVEADIGIQAERVRGVNASAQKFATDGEG
YKPCDPQVIRDRVAHMEFCYQELCQLAAERRARLEE
SRRLWKFFWEMAEEEGWIREKEKI
LSSDDYGKDLTSVMRLLSKHRAFEDEMSGRSGHFEQAIKEGEDMIAEEHFGSEKIRERII
YIREQWANLEQLSAIRKKRLEE
ASLLHQFQADADDIDAWMLDILKIVSSSDVGHDEYSTQ
SLVKKHKDVAEEIANYRPTLDTLHEQASALPQEHAESPDVRGRLSGIEERYKEVAELTRL
RKQALQD
TLALYKMFSEADACELWIDEKEQWLNNMQIPEKLEDLEVIQHRFESLEPEMNN
QASRVAVVNQIARQLMHSGHPSEKEIKAQQDKLNTRWSQFRELVDRKKDALLS
ALSIQNY
HLECNETKSWIREKTKVIESTQDLGNDLAGVMALQRKLTGMERDLVAIEAKLSDLQKEAE
KLESEHPDQAQAILSRLAEISDVWEEMKTTLKNREASLGE
ASKLQQFLRDLDDFQSWLSR
TQTAIASEDMPNTLTEAEKLLTQHENIKNEIDNYEEDYQKMRDMGEMVTQGQTDAQYMFL
RQRLQALDTGWNELHKMWENRQNLLSQ
SHAYQQFLRDTKQAEAFLNNQEYVLAHTEMPTT
LEGAEAAIKKQEDFMTTMDANEEKINAVVETGRRLVSDGNINSDRIQEKVDSIDDRHRKN
RETASELLMRLK
DNRDLQKFLQDCQELSLWINEKMLTAQDMSYDEARNLHSKWLKHQAFM
AELASNKEWLDKIEKEGMQLISEKPETEAVVKEKLTGLHKMWEVLESTTQTKAQRLFD
AN
KAELFTQSCADLDKWLHGLESQIQSDDYGKDLTSVNILLKKQQMLENQMEVRKKEIEELQ
SQAQALSQEGKSTDEVDSKRLTVQTKFMELLEPLNERKHNLLA
SKEIHQFNRDVEDEILW
VGERMPLATSTDHGHNLQTVQLLIKKNQTLQKEIQGHQPRIDDIFERSQNIVTDSSSLSA
EAIRQRLADLKQLWGLLIEETEKRHRRLEE
AHRAQQYYFDAAEAEAWMSEQELYMMSEEK
AKDEQSAVSMLKKHQILEQAVEDYAETVHQLSKTSRALVADSHPESERISMRQSKVDKLY
AGLKDLAEERRGKLDE
RHRLFQLNREVDDLEQWIAEREVVAGSHELGQDYEHVTMLQERF
REFARDTGNIGQERVDTVNHLADELINSGHSDAATIAEWKDGLNEAWADLLELIDTRTQI
LAA
SYELHKFYHDAKEIFGRIQDKHKKLPEELGRDQNTVETLQRMHTTFEHDIQALGTQV
RQLQEDAARLQAAYAGDKADDIQKRENEVLEAWKSLLDACESRRVRLVD
TGDKFRFFSMV
RDLMLWMEDVIRQIEAQEKPRDVSSVELLMNNHQGIKAEIDARNDSFTTCIELGKSLLAR
KHYASEEIKEKLLQLTEKRKEMIDKWEDRWEWLRL
ILEVHQFSRDASVAEAWLLGQEPYL
SSREIGQSVDEVEKLIKRHEAFEKSAATWDERFSALERLTTLELLEVRRQQEEEERKRRP

PSPEPSTKVSEEAESQQQWDTSKGEQVSQNGLPAEQGSPRMAETVDTSEMVNGATEQRTS
SKESSPIPSPTSDRKAKTALPAQSAATLPARTQETPSAQMEGFLNRKHEWEAHNKKASSR
SWHNVYCVINNQEMGFYKDAKTAASGIPYHSEVPVSLKEAVCEVALDYKKKKHVFKLRLN
DGNEYLFQAKDDEEMNTWIQAISSAIS
SDKHEVSASTQSTPASSRAQTLPTSVVTITSES
SPGKREKDKEKDKEKRFSLFGKKK
Sequence length 2364
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Cytoskeleton in muscle cells   NCAM signaling for neurite out-growth
Interaction between L1 and Ankyrins
RAF/MAP kinase cascade
COPI-mediated anterograde transport
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Myopia Myopia, Degenerative rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805
View all (6 more)
22685421
Unknown
Disease term Disease name Evidence References Source
Schizophrenia Schizophrenia GWAS
Kidney Disease Kidney Disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 27496196
Attention Deficit Disorder with Hyperactivity Associate 34573389
Autistic Disorder Associate 33847457
Breast Neoplasms Associate 35075167, 35132081
Carcinoma Hepatocellular Associate 25912578, 28918914
Carcinoma Pancreatic Ductal Associate 32860207
Carcinoma Renal Cell Inhibit 36527113
Carcinoma Renal Cell Associate 37013511
Colorectal Neoplasms Associate 26678488
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 33847457