GPSM2

The protein encoded by this gene belongs to a family of proteins that modulate activation of G proteins, which transduce extracellular signals received by cell surface receptors into integrated cellular responses. The N-terminal half of this protein contains 10 copies of leu-gly-asn (LGN) repeat, and the C-terminal half contains 4 GoLoco motifs, which are involved in guanine nucleotide exchange. This protein may play a role in neuroblast division and in the development of normal hearing. Mutations in this gene are associated with autosomal recessive nonsyndromic deafness (DFNB82). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

Description

G protein signaling modulator 2

Tissue specificity

Tissue enhanced (brain, tongue)

Subcell location

Cytosol

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

1 (108875350 - 108934545)

Ensembl ID

ENSG00000121957  (ver. 103.38)

Orthologs

Mouse Gpsm2: ENSMUSG00000027883

UniProt

P81274

neXtProt

NX_P81274

Human splice variants
Mouse splice variants

Protein structure