GPR179
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GPR179 (HGNC:31371) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
G protein-coupled receptor 179
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
GPR158L1
Alias symbols
CSNB1E
%HI
79.16(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.97(Read more about gnomAD LOEUF score)
Cytoband
17q12
Genomic Coordinates
GRCh37/hg19: chr17:36480454-36499839 NCBI Ensembl UCSC
GRCh38/hg38: chr17:38324571-38343956 NCBI Ensembl UCSC
MANE Select Transcript
NM_001004334.4 ENST00000616987.5 (Read more about MANE Select)
Function
Orphan receptor involved in vision (PubMed:24084093, PubMed:22325362). Required for signal transduction through retinal depolarizing bipolar cells (PubMed:22325362). Acts as an atypical G- protein coupled receptor that recruits and regulates the R7 group RGS- GNB5 complexes instead of activating G proteins: promotes the GTPase activator activity of R7 RGS proteins, increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (By similarity).... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-33568
ClinGen Curation ID:
CCID:007243
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • congenital stationary night blindness 1E Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000017.10) (NC_000017.11)