SPTBN2

GENE INFORMATION

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Gene name

SPTBN2 (HGNC Symbol)

Synonyms

SCA5

Description

Spectrin, beta, non-erythrocytic 2 (HGNC Symbol)

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]

Chromosome

11

Cytoband

q13.2

Chromosome location (bp)

66685248 - 66729226

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000173898 (version 78.38)

Entrez gene

6712

UniProt

O15020 (UniProt - Evidence at protein level)

neXtProt

NX_O15020

Antibodypedia

SPTBN2 antibodies
 

PROTEIN VIEW

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SPTBN2-001
 
SPTBN2-003
 
SPTBN2-004
 
SPTBN2-201
 
SPTBN2-202
 
SPTBN2-203
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SPTBN2-001 ENSP00000432568
ENST00000533211
O15020
Show all »
Show » Show » 2390 271.3 No 0
SPTBN2-003 ENSP00000433593
ENST00000529997
O15020
Show all »
Show » Show » 2365 268.3 No 0
SPTBN2-004 ENSP00000433631
ENST00000527010
E9PJZ2
Show all »
Show » Show » 117 13.5 No 0
SPTBN2-201 ENSP00000311489
ENST00000309996
O15020
Show all »
Show » Show » 2390 271.3 No 0
SPTBN2-202 ENSP00000480692
ENST00000611817
A4QPE4
Show all »
Show » Show » 934 105.7 No 0
SPTBN2-203 ENSP00000482000
ENST00000617502
A4QPE4
Show all »
Show » Show » 934 105.7 No 0