GPSM2 gene

G-protein signaling modulator 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Plays an important role in mitotic spindle pole organization via its interaction with NUMA1 (PubMed:15632202, PubMed:21816348). Plays an important role in asymmetric cell divisions (PubMed:21816348). Has guanine nucleotide dissociation inhibitor (GDI) activity towards G(i) alpha proteins, such as GNAI1 and GNAI3, and thereby regulates their activity.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Chudley-McCullough syndrome

From UniProt:

Chudley-McCullough syndrome (CMCS): An autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal. [MIM:604213]

Cytogenetic Location: 1p13.3, which is the short (p) arm of chromosome 1 at position 13.3

Molecular Location: base pairs 108,875,350 to 108,934,335 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p13.3, which is the short (p) arm of chromosome 1 at position 13.3
  • CMCS
  • DFNB82
  • LGN
  • PINS