GPSM2 G protein signaling modulator 2
Gene ID: 29899, updated on 19-Sep-2024Gene type: protein coding
Also known as: LGN; CMCS; PINS; DFNB82
- See all available tests in GTR for this gene
- Go to complete Gene record for GPSM2
- Go to Variation Viewer for GPSM2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Chudley-McCullough syndrome | See labs |
| Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men. GeneReviews: Not available |
Genomic context
- Location:
- 1p13.3
- Sequence:
- Chromosome: 1; NC_000001.11 (108876985..108934545)
- Total number of exons:
- 18
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GPSM2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GPSM2 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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