GPR179

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

Basic information

Region (hg38): 17:38324571-38343956

Previous symbols: [ "GPR158L1" ]

Links

ENSG00000277399 ∙ NCBI:440435 ∙ OMIM:614515 ∙ HGNC:31371 ∙ Uniprot:Q6PRD1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• congenital stationary night blindness 1E (Strong), mode of inheritance: AR
• congenital stationary night blindness (Supportive), mode of inheritance: AD
• GPR179-related retinopathy (Definitive), mode of inheritance: AR
• congenital stationary night blindness 1E (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Night blindness, congenital stationary, type 1E	AR	General	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	Ophthalmologic	22325361; 22325362; 23714322

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GPR179 gene.

• not provided (21 variants)
• Congenital stationary night blindness 1E (3 variants)
• Optic atrophy (1 variants)
• Congenital stationary night blindness (1 variants)
• Congenital Stationary Night Blindness, Recessive (1 variants)
• Retinal dystrophy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR179 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			9	312	13	334
missense			680	30	24	734
nonsense	7	8	21			36
start loss						0
frameshift	15	3	35			53
inframe indel			15			15
splice donor/acceptor (+/-2bp)		4	1			5
splice region			11	11		22
non coding			16	32	25	73
Total	22	15	777	374	62

Highest pathogenic variant AF is 0.000466

Variants in GPR179

This is a list of pathogenic ClinVar variants found in the GPR179 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-38325641-C-T		Congenital stationary night blindness 1E	Uncertain significance (Jan 13, 2018)
17-38325825-C-A		Congenital stationary night blindness 1E	Uncertain significance (Jan 12, 2018)
17-38325852-C-G		Congenital stationary night blindness 1E	Benign (Jan 12, 2018)
17-38325911-G-A		Congenital stationary night blindness 1E	Uncertain significance (Jan 13, 2018)
17-38325942-C-T		Congenital stationary night blindness 1E	Benign (Jan 13, 2018)
17-38325943-G-A		Congenital stationary night blindness 1E	Uncertain significance (Jan 12, 2018)
17-38325949-A-G		Congenital stationary night blindness 1E	Uncertain significance (Jan 13, 2018)
17-38326011-C-T		Congenital stationary night blindness 1E	Uncertain significance (Jan 12, 2018)
17-38326012-G-A		Congenital stationary night blindness 1E	Uncertain significance (Jan 13, 2018)
17-38326077-T-G		Congenital stationary night blindness 1E	Uncertain significance (Jan 13, 2018)
17-38326103-C-T		Congenital stationary night blindness 1E	Benign (Jan 13, 2018)
17-38326106-G-C		Congenital stationary night blindness 1E	Uncertain significance (Jan 12, 2018)
17-38326127-C-T		Congenital Stationary Night Blindness, Recessive	Uncertain significance (Jun 14, 2016)
17-38326161-T-C		Congenital stationary night blindness 1E	Uncertain significance (Jan 12, 2018)
17-38326448-C-G		Congenital stationary night blindness 1E	Uncertain significance (Mar 30, 2018)
17-38326470-C-T			Uncertain significance (Aug 16, 2022)
17-38326489-A-C		Congenital stationary night blindness 1E	Benign (Feb 03, 2025)
17-38326513-C-T			Likely benign (Oct 17, 2022)
17-38326523-A-G			Uncertain significance (Feb 24, 2024)
17-38326527-C-T			Likely benign (May 06, 2024)
17-38326534-G-A		Congenital stationary night blindness 1E	Conflicting classifications of pathogenicity (Oct 16, 2024)
17-38326551-A-T			Uncertain significance (Jul 18, 2022)
17-38326553-G-A			Uncertain significance (Dec 08, 2021)
17-38326555-C-T		GPR179-related disorder	Benign (Jan 06, 2025)
17-38326556-G-A			Uncertain significance (May 28, 2022)

GnomAD

Source: gnomAD

dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.0811
• hipred: N
• hipred_score: 0.145

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.142

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Gpr179
• Phenotype: vision/eye phenotype

Zebrafish Information Network

• Gene name: gpr179
• Affected structure: retinal bipolar neuron
• Phenotype tag: abnormal
• Phenotype quality: decreased functionality

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;visual perception
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: G protein-coupled receptor activity