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 (1221 variants)
• Inborn_genetic_diseases (319 variants)
• Congenital_stationary_night_blindness_1E (185 variants)
• GPR179-related_disorder (40 variants)
• Retinal_dystrophy (20 variants)
• not_specified (18 variants)
• Optic_atrophy (6 variants)
• Congenital_Stationary_Night_Blindness,_Recessive (4 variants)
• Congenital_stationary_night_blindness (3 variants)
• Retinitis_pigmentosa (2 variants)
• Congenital_stationary_night_blindness_1B (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. These statistics are base on transcript: NM_001004334.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			8	359	10	377
missense	1	2	754	75	18	850
nonsense	9	10	18			37
start loss						0
frameshift	18	10	32			60
splice donor/acceptor (+/-2bp)	1	4	1			6
Total	29	26	813	434	28

Highest pathogenic variant AF is 0.000349335

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