GPR179 G protein-coupled receptor 179

Gene ID: 440435, updated on 27-Aug-2024
Gene type: protein coding
Also known as: CSNB1E; GPR158L; GPR158L1

Summary

This gene encodes a member of the glutamate receptor subfamily of G protein-coupled receptors. The encoded protein has an EGF-like calcium binding domain and a seven transmembrane domain in the N-terminal region of the protein. Mutations in this gene are associated with congenital stationary night blindness type 1E. [provided by RefSeq, Apr 2012]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Congenital stationary night blindness 1E MedGen: C3281215OMIM: 614565GeneReviews: Not available	See labs
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. GeneReviews: Not available

Genomic context

Location:: 17q12

Sequence:: Chromosome: 17; NC_000017.11 (38324571..38343956, complement)

Total number of exons:: 11

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for GPR179 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.