SPTBN2

GENERAL INFORMATION

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Gene name

SPTBN2

Gene description

Spectrin, beta, non-erythrocytic 2

Protein class

Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

6
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (cerebral cortex, skin, testis)
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic and membranous expression in most cell types, highly expressed in CNS, renal distal tubules and squamous epithelia.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Supportive based on 3 antibodies.
HPA039293 , HPA043529 , CAB009844
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Cerebellum

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (cerebral cortex, skin, testis)

Organ

Expression

GTEx dataset
RNA tissue category:  Mixed

Organ

Expression



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 BROWSER

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ENST00000309996
 
ENST00000527010
 
ENST00000529997
 
ENST00000533211
 
ENST00000611817
 
ENST00000617502
 
 
 
 


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