GPR179: G Protein-Coupled Receptor 179
A key regulator of the ON-bipolar cell signaling cascade in the retina, associated with congenital stationary night blindness.
Gene Information Card
| Symbol | GPR179 |
|---|---|
| Full Name | G protein-coupled receptor 179 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q12 |
| NCBI Gene ID | 440435 ncbi.nlm.nih.gov/gene/440435 |
| Ensembl ID | ENSG00000198728 |
| UniProt ID | Q6PRD1 |
| OMIM ID | 614515 |
| HGNC ID | 31371 |
| Aliases | GPR158L1, PGRL2, dJ1033B10.2 |
Description
GPR179 encodes a G protein-coupled receptor that is specifically expressed in retinal ON-bipolar cells. It is a critical component of the mGluR6 signaling cascade, where it acts as a scaffold or modulator to ensure proper synaptic transmission from photoreceptors to ON-bipolar cells. Loss-of-function mutations in GPR179 cause autosomal recessive congenital stationary night blindness type 1E (CSNB1E), characterized by impaired vision in dim light.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital stationary night blindness 1E (CSNB1E) | Loss-of-function mutations in GPR179 disrupt the mGluR6 signaling cascade in ON-bipolar cells, preventing normal light-induced depolarization. | OMIM #614565; ClinVar; multiple case reports (e.g., Zeitz et al., 2013) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 0.0 | Not detected (nTPM not applicable; RNA-seq from GTEx shows very low expression in whole retina, but protein is specifically localized to ON-bipolar cells) |
| Brain - Cerebellum | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 0.0 | No detectable expression |
| Y79 (retinoblastoma) | 0.0 | No detectable expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.557C>T (p.Thr186Met) | Missense | Rare | Likely loss-of-function; disrupts receptor folding or signaling |
| c.1039C>T (p.Arg347*) | Nonsense | Rare | Premature stop; loss-of-function |
| c.1687delG (p.Ala563Profs*12) | Frameshift | Rare | Loss-of-function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
All reported pathogenic mutations in GPR179 are loss-of-function, leading to CSNB1E.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• mGluR6 signaling in ON-bipolar cells (Reactome: R-HSA-2514856)
• Phototransduction cascade (KEGG: hsa04744)
Protein Summary
GPR179 is a 366-amino acid G protein-coupled receptor with 7 transmembrane domains. It is localized to the dendritic tips of retinal ON-bipolar cells, where it interacts with the mGluR6 receptor complex and other signaling proteins (e.g., Gαo, TRPM1). Its primary function is to facilitate the light-induced depolarization of ON-bipolar cells. Loss of GPR179 function abolishes this response, resulting in congenital stationary night blindness.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GPR179 Knockout HEK293 Cell Line | EDJ-KQ13670 | Human | 440435 | Details Get a Quote |
| GPR179 Knockout HeLa Cell Line | EDJ-KQ60390 | Human | 440435 | Details Get a Quote |
| GPR179 Knockout A-549 Cell Line | EDJ-KQ68858 | Human | 440435 | Details Get a Quote |
| GPR179 Knockout HCT 116 Cell Line | EDJ-KQ77221 | Human | 440435 | Details Get a Quote |
