SPTBN2

Name

spectrin beta, non-erythrocytic 2

Type

protein-coding

Position

66,682,496–66,744,670 (−)

Aliases

GTRAP41, SCA5, SCAR14

Ensembl

ENSG00000173898

RefSeq RNA

NM_001411025.1, NM_001437541.1, NM_006946.4, XM_006718671.5, XM_011545216.4

RefSeq protein

NP_001397954.1, NP_001424470.1, NP_008877.2, XP_006718734.1, XP_011543518.1

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].

via MyGene.info

Gene · Ensembl

spectrin beta, non-erythrocytic 2

Symbol

SPTBN2

Biotype

Protein coding

Organism

Homo sapiens

Location

11:66,682,496-66,744,670

Strand

Reverse (−)

Assembly

GRCh38

Wikidata facts

Image

Protein SPTBN2 PDB 1wjm.png

via Wikidata · CC0