Bos taurus Gene: SPTBN2 | |||||||||||
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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
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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] |
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Gene Information | |||||||||||
Type | Protein coding | ||||||||||
Genomic Location | Chromosome 29:45358814-45438945 | ||||||||||
Strand | Reverse strand | ||||||||||
Band | |||||||||||
Transcripts |
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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.
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Gene Ontology | |||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||
Species
Homo sapiens
Mus musculus
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Gene ID
Gene Order
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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
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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 | ||||||||||