SPTBN2

Gene Information

Official Symbol: SPTBN2
Official Name: spectrin beta, non-erythrocytic 2
Aliases and Previous Symbols: N/A
Entrez ID: 6712
UniProt: O15020
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez 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].
UniProt Summary: Probably plays an important role in neuronal membrane skeleton.

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Essentiality in NALM6

Essentiality Rank: 12272
Expression level (log2 read counts): 6.64

Expression Distribution

CAMSAP CH
PH
CH
Spectrin

postsynaptic spectrin-associated cytoskeleton
structural constituent of synapse
spectrin
cerebellar Purkinje cell layer morphogenesis
parallel fiber to Purkinje cell synapse
cerebellar Purkinje cell layer development
cerebellar cortex morphogenesis
actin filament capping
negative regulation of actin filament depolymerization
cerebellum morphogenesis
hindbrain morphogenesis
cerebellar cortex development
regulation of actin filament depolymerization
negative regulation of actin filament polymerization
negative regulation of protein depolymerization
negative regulation of protein polymerization
negative regulation of protein complex disassembly
multicellular organism growth
regulation of protein depolymerization
postsynapse organization
synapse assembly
presynapse
antigen processing and presentation of exogenous peptide antigen via MHC class II
antigen processing and presentation of peptide or polysaccharide antigen via MHC class II
antigen processing and presentation of peptide antigen via MHC class II
cerebellum development
structural constituent of cytoskeleton
phospholipid binding
metencephalon development
regulation of protein complex disassembly
negative regulation of supramolecular fiber organization
negative regulation of protein complex assembly
negative regulation of cytoskeleton organization
adult behavior
hindbrain development
regulation of actin filament polymerization
antigen processing and presentation of exogenous peptide antigen
regulation of actin polymerization or depolymerization
regulation of actin filament length
antigen processing and presentation of exogenous antigen