Version 5.4
Homo sapiens Gene: SPTBN2
Summary
InnateDB Gene IDBG-59582.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SPTBN2
Gene Name spectrin, beta, non-erythrocytic 2
Synonyms GTRAP41; SCA5; SCAR14
Species Homo sapiens
Ensembl Gene ENSG00000173898
Encoded Proteins
IDBP-59584
spectrin, beta, non-erythrocytic 2
IDBP-604318
spectrin, beta, non-erythrocytic 2
IDBP-604319
spectrin, beta, non-erythrocytic 2
IDBP-604320
spectrin, beta, non-erythrocytic 2
IDBP-809684
spectrin, beta, non-erythrocytic 2
IDBP-809687
spectrin, beta, non-erythrocytic 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009]
Spectrins are principle components of a cell\'s membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:66685248-66729226
Strand Reverse strand
Band q13.2
Transcripts
ENST00000309996 ENSP00000311489
ENST00000533211 ENSP00000432568
ENST00000529997 ENSP00000433593
ENST00000528051
ENST00000530775
ENST00000532650
ENST00000532902
ENST00000530665
ENST00000527010 ENSP00000433631
ENST00000611817 ENSP00000480692
ENST00000617502 ENSP00000482000
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 10 [view]
Protein-Protein 10 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding
GO:0005543 phospholipid binding
Biological Process
GO:0007411 axon guidance
GO:0007416 synapse assembly
GO:0008219 cell death
GO:0016192 vesicle-mediated transport
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II
GO:0021692 cerebellar Purkinje cell layer morphogenesis
GO:0030534 adult behavior
GO:0035264 multicellular organism growth
GO:0051693 actin filament capping
Cellular Component
GO:0005615 extracellular space
GO:0005829 cytosol
GO:0008091 spectrin
GO:0016324 apical plasma membrane
GO:0043025 neuronal cell body
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000067889
View Gene Order
ENSBTAG00000005929
Not yet available
Pathways
NETPATH
REACTOME
REACT_121399
MHC class II antigen presentation pathway
REACT_22266
Interaction between L1 and Ankyrins pathway
REACT_22205
L1CAM interactions pathway
REACT_18334
NCAM signaling for neurite out-growth pathway
REACT_111045
Developmental Biology pathway
REACT_18266
Axon guidance pathway
REACT_75774
Adaptive Immune System pathway
REACT_6900
Immune System pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt O15020
TrEMBL C1KC08 E9PJZ2
UniProt Splice Variant
Entrez Gene 6712
UniGene Hs.26915 Hs.600552
RefSeq NM_006946 XM_005274192 XM_005274193 XM_006718669 XM_006718670 XM_006718671
HUGO HGNC:11276
OMIM 604985
CCDS CCDS8150
HPRD 05404
IMGT
EMBL AB008567 AF026487 AF026488 AF079569 AP001157 FJ811850
GenPept AAC79502 AAC79503 AAC79504 AAC80006 ACO36918 BAA32700
RNA Seq Atlas 6712

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca