GeneBe

GPR179

protein-coding

G protein-coupled receptor 179, the group of G protein-coupled receptors, Class C orphans

Gene 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]

Previous symbols:
  • GPR158L1

MANE transcript

NM_001004334.4

Inheritance

AR

ClinVar variants

P:70U:926B:526

Top phenotype

Night blindness, congenital stationary, type 1E

Max pathogenic AF

—

Genomic locus

chr17:38,324,571-38,343,956

External References & Databases

Ensembl (ENSG00000277399)NCBI Gene (440435)OMIM (614515)HGNC:31371GenCCUniProt (Q6PRD1)AlphaFoldClinVar (GPR179)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~19.4 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

congenital stationary night blindness 1ESTRONG

Inheritance Pattern: AR

Disease ID:MONDO:0013807

Submitter: PanelApp Australia

congenital stationary night blindness 1EDEFINITIVE

Inheritance Pattern: AR

Disease ID:MONDO:0013807

Submitter: G2P

GPR179-related retinopathyDEFINITIVE

Inheritance Pattern: AR

Disease ID:MONDO:0800396

Submitter: ClinGen

*GPR179* was first reported in relation to autosomal recessive congenital stationary night blindness in 2012 (Audo et al., PMID: 22325361). 5 publications (PMIDs: 22325361, 16229975, 33922602, 24222301 and 22325362) are included in this curation. Per criteria outlined by the ClinGen Lumping & Splitting Working Group, we found the molecular mechanism and inheritance pattern (autosomal recessive) to be consistent among unrelated patients, while the phenotypic variability among them appeared to represent a spectrum of disease. Therefore, cases caused by inherited *GPR179* variants have been lumped into a single disease entity, referred to as *GPR179*-related retinopathy (MONDO:0800396). More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. The mechanism of pathogenicity is reported to be LOF. This gene-disease association is also supported by experimental evidence. In summary, *GPR179* is definitively associated with GPR179-related retinopathy (MONDO:0800396). This has been repeatedly demonstrated in both the research and clinical diagnostic settings, and has been upheld over time. This classification has been approved by the Retina GCEP on June 2nd, 2022 (SOP Version 9).

congenital stationary night blindness 1ESTRONG

Inheritance Pattern: AR

Disease ID:MONDO:0013807

Submitter: Labcorp Genetics (formerly Invitae)

Clinical Genomic Database (CGD)

Night blindness, congenital stationary, type 1EAR

Manifestation: Ophthalmologic

Intervention: General

Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing

Refs: 22325361; 22325362; 23714322Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to GPR179 variants in ClinVar

12 Conditions Cataloged
not providedTotal: 1371
Inborn genetic diseasesTotal: 370
not specifiedTotal: 215
Congenital stationary night blindness 1ETotal: 191
GPR179-related disorderTotal: 52
GPR179-related disordersTotal: 27
Retinal dystrophyTotal: 15
Optic atrophyTotal: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001004334.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
7
clinvar
412
clinvar
4
clinvar
 423
missense
1
clinvar
2
clinvar
846
clinvar
99
clinvar
11
clinvar
 959
nonsense
6
clinvar
17
clinvar
25
clinvar
 48
start loss
1
clinvar
 1
frameshift
15
clinvar
22
clinvar
46
clinvar
 83
splice donor/acceptor (+/-2bp)
1
clinvar
6
clinvar
1
clinvar
 8
Total2347926511151522

Highest pathogenic variant AF is 0.00034933534

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_001004334.4RefSeqNP_001004334.311MANE Select
ENST00000616987.5EnsemblENSP00000483469.211MANE Select

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / ModelOrganismObserved Phenotype
gpr179Danio rerio

Structure: retinal bipolar neuron

Quality: decreased functionality

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

  • G protein-coupled receptor signaling pathway
  • visual perception

Molecular Function

  • G protein-coupled receptor activity

Cellular Component

  • plasma membrane
  • integral component of membrane

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Orphan receptor, involved in vision. Required for signal transduction through retinal depolarizing bipolar cells. {ECO:0000269|PubMed:22325362}.;

Recessive Scores

pRec
0.0845

Intolerance Scores

LoFtool
0.585
RVIS EVS
2.77
RVIS percentile EVS
99

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
N
Indispensability score
0.142

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium
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