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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GPR179
G protein-coupled receptor 179
Chromosome 17 Β· 17q12
NCBI Gene: 440435Ensembl: ENSG00000276469.1HGNC: HGNC:31371UniProt: A0A087X0K8
15PubMed Papers
21Diseases
0Drugs
45Pathogenic Variants
FUNCTIONAL ROLE
Receptor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingvisual perceptiondendritedendrite terminuscongenital stationary night blindnessRetinal dystrophyoptic atrophyskin disease
✦AI Summary

GPR179 is an orphan class C G protein-coupled receptor essential for retinal vision, specifically required for signal transduction through ON-bipolar cells 1. Localized to the dendritic tips of ON-bipolar cells, GPR179 mediates transsynaptic assembly with photoreceptors through interaction with the extracellular matrix protein pikachurin, aligning neurotransmitter release apparatus with postsynaptic signaling cascades 2. Unlike canonical GPCRs, GPR179 functions as an atypical GPCR that recruits and regulates R7 RGS-GNB5 complexes, promoting GTPase activity of G protein alpha subunits and controlling the gating of TRPM1 channels 3. Structurally, GPR179 forms homodimers through an unusual TM1/7 interface with a disulfide bond, adopting a noncanonical architecture suited for the curved membrane of dendritic tips 4. Mutations in GPR179 cause complete congenital stationary night blindness (cCSNB), characterized by complete loss of night vision and ON-bipolar cell signaling defects 3. cCSNB associated with GPR179 mutations is also linked to high myopia, suggesting GPR179's broader role in retinal development 5. GPR179 represents an attractive therapeutic target for blinding disorders affecting visual signal transmission.

Sources cited
1
GPR179 is required for signal transduction through retinal depolarizing bipolar cells and is involved in vision
PMID: 22325362
2
GPR179 interacts with pikachurin at photoreceptor-bipolar cell synapses, mediating transsynaptic assembly and synaptic organization
PMID: 37490546
3
GPR179 is localized to ON-bipolar cell dendritic tips; mutations cause complete congenital stationary night blindness and loss of TRPM1 channel function
PMID: 24084093
4
GPR179 forms noncanonical homodimers through TM1/7 interface with disulfide bond, with architecture suited for curved dendritic tip membranes
PMID: 39333506
5
GPR179 mutations causing cCSNB are associated with high myopia, identifying novel biological mechanisms linking retinal signaling defects to myopia development
PMID: 36669906
Disease Associationsβ“˜21
congenital stationary night blindnessOpen Targets
0.65Moderate
Retinal dystrophyOpen Targets
0.47Moderate
optic atrophyOpen Targets
0.45Moderate
skin diseaseOpen Targets
0.35Weak
genetic disorderOpen Targets
0.19Weak
congenital stationary night blindness, recessiveOpen Targets
0.17Weak
retinitis pigmentosaOpen Targets
0.14Weak
prostate carcinomaOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.02Suggestive
myopiaOpen Targets
0.02Suggestive
night blindnessOpen Targets
0.01Suggestive
Leber congenital amaurosisOpen Targets
0.00Suggestive
retinopathyOpen Targets
0.00Suggestive
cystinuriaOpen Targets
0.00Suggestive
fundus albipunctatusOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
macular degenerationOpen Targets
0.00Suggestive
polydactylyOpen Targets
0.00Suggestive
posterior cortical atrophyOpen Targets
0.00Suggestive
type 2 diabetes mellitusOpen Targets
0.00Suggestive
Night blindness, congenital stationary, 1EUniProt
Pathogenic Variants45
NM_001004334.4(GPR179):c.1573C>T (p.Arg525Ter)Pathogenic
not provided|Optic atrophy
β˜…β˜…β˜†β˜†2026β†’ Residue 525
NM_001004334.4(GPR179):c.984del (p.Ser329fs)Pathogenic
Congenital stationary night blindness 1E|not provided|Congenital stationary night blindness|Retinal dystrophy|Optic atrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 329
NM_001004334.4(GPR179):c.1429C>T (p.Arg477Ter)Pathogenic
not provided|GPR179-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 477
NM_001004334.4(GPR179):c.958C>T (p.Arg320Ter)Pathogenic
not provided|Retinal dystrophy|Congenital stationary night blindness 1E
β˜…β˜…β˜†β˜†2025β†’ Residue 320
NM_001004334.4(GPR179):c.1368del (p.Phe456fs)Pathogenic
not provided|Congenital stationary night blindness 1E
β˜…β˜…β˜†β˜†2024β†’ Residue 456
NM_001004334.4(GPR179):c.1543C>T (p.Arg515Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 515
NM_001004334.4(GPR179):c.1818G>A (p.Trp606Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 606
NM_001004334.4(GPR179):c.1727del (p.Tyr576fs)Pathogenic
Congenital stationary night blindness 1E|not provided
β˜…β˜…β˜†β˜†2021β†’ Residue 576
NM_001004334.4(GPR179):c.673C>T (p.Gln225Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2020β†’ Residue 225
NC_000017.11:g.38339517_38339521delinsGTAGATCAPathogenic
not provided|Congenital stationary night blindness
β˜…β˜…β˜†β˜†2017
NM_001004334.4(GPR179):c.839_842del (p.Asn280fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 280
NM_001004334.4(GPR179):c.1000del (p.Glu334fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 334
NM_001004334.4(GPR179):c.416dup (p.Asp141fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 141
NM_001004334.4(GPR179):c.268_269delinsTA (p.Gly90Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 90
NM_001004334.4(GPR179):c.1874dup (p.Ile626fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 626
NM_001004334.4(GPR179):c.724C>T (p.Arg242Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 242
NM_001004334.4(GPR179):c.1645+1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001004334.4(GPR179):c.278del (p.Pro93fs)Pathogenic
Congenital stationary night blindness 1E|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 93
NM_001004334.4(GPR179):c.1706C>A (p.Ser569Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 569
NM_001004334.4(GPR179):c.1646-1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
View on ClinVar β†—
Related Genes
GRM6Protein interaction73%CABP4Protein interaction73%LRIT3Protein interaction73%EGFLAMProtein interaction73%PRPH2Shared pathway67%NYXProtein interaction64%
Tissue Expression6 tissues
Brain
100%
Ovary
17%
Liver
9%
Bone Marrow
6%
Lung
4%
Heart
0%
Gene Interaction Network
Click a node to explore
GPR179GRM6CABP4LRIT3EGFLAMPRPH2NYX
PROTEIN STRUCTURE
Preparing viewer…
PDB8IRJ Β· 3.49 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.96LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.77 [0.61–0.96]
RankingsWhere GPR179 stands among ~20K protein-coding genes
  • #15,579of 20,598
    Most Researched15
  • #1,435of 5,498
    Most Pathogenic Variants45
  • #9,146of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedGPR179
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Structure of the photoreceptor synaptic assembly of the extracellular matrix protein pikachurin with the orphan receptor GPR179.
PMID: 37490546
Sci Signal Β· 2023
1.00
2
Cryo-EM structure of human class C orphan GPCR GPR179 involved in visual processing.
PMID: 39333506
Nat Commun Β· 2024
0.90
3
Shedding light on myopia by studying complete congenital stationary night blindness.
PMID: 36669906
Prog Retin Eye Res Β· 2023
0.80
4
In vitro profiling of orphan G protein coupled receptor (GPCR) constitutive activity.
PMID: 33784795
Br J Pharmacol Β· 2021
0.70
5
Ultrastructural localization of GPR179 and the impact of mutant forms on retinal function in CSNB1 patients and a mouse model.
PMID: 24084093
Invest Ophthalmol Vis Sci Β· 2013
0.60