Tbio SPTBN2 Spectrin beta chain, non-erythrocytic 2

Protein Summary

Description

Probably plays an important role in neuronal membrane skeleton. 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]

Uniprot Accession IDs

• O15020
• O14872
• O14873

Gene Name

• SPTBN2

Ensembl ID

• ENST00000309996
• ENSP00000311489
• ENSG00000173898
• ENST00000529997
• ENSP00000433593
• ENST00000533211
• ENSP00000432568

Symbol

• KIAA0302
• SCA5
• SCA5
• SCAR14
• GTRAP41

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
protein domain	0.97
cellular component	0.81
gene perturbation	0.76
cell line	0.73
small molecule perturbation	0.72

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 112.64   (req: < 5)

Gene RIFs: 32   (req: <= 3)

Antibodies: 648   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 112.64   (req: >= 5)

Gene RIFs: 32   (req: > 3)

Antibodies: 648   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 17

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0