Bos taurus Gene: SPTBN2
Summary
InnateDB Gene IDBG-644565.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SPTBN2
Gene Name Uncharacterized protein
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000005929
Encoded Proteins
spectrin, beta, non-erythrocytic 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000173898:
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 29:45358814-45438945
Strand Reverse strand
Band
Transcripts
ENSBTAT00000007787 ENSBTAP00000007787
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Predicted by orthology
Total 7 [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:0007416 synapse assembly
GO:0016192 vesicle-mediated transport
GO:0021692 cerebellar Purkinje cell layer morphogenesis
GO:0030534 adult behavior
GO:0035264 multicellular organism growth
Cellular Component
GO:0005615 extracellular space
GO:0008091 spectrin
GO:0016324 apical plasma membrane
GO:0043025 neuronal cell body
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
MHC class II antigen presentation pathway
Interaction between L1 and Ankyrins pathway
L1CAM interactions pathway
NCAM signaling for neurite out-growth pathway
Developmental Biology pathway
Axon guidance pathway
Adaptive Immune System pathway
Immune System pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL E1BMN5
UniProt Splice Variant
Entrez Gene 100848725
UniGene Bt.112030 Bt.112238 Bt.35937
RefSeq XM_002699394 XM_005227236
HUGO HGNC:11276
OMIM
CCDS
HPRD
IMGT
EMBL DAAA02063595 DAAA02063596 DAAA02063597 DAAA02063598
GenPept
RNA Seq Atlas 100336865 100848725