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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]
GPR179 (G Protein-Coupled Receptor 179) is a Protein Coding gene. Diseases associated with GPR179 include Night Blindness, Congenital Stationary, Type 1E and Congenital Stationary Night Blindness. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity. An important paralog of this gene is GPR158.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004930 | G protein-coupled receptor activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0044292 | dendrite terminus | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007186 | G protein-coupled receptor signaling pathway | IEA | -- |
GO:0007601 | visual perception | IEA,IMP | 22325362 |
GO:0072659 | protein localization to plasma membrane | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
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Chimpanzee (Pan troglodytes) |
Mammalia | GPR179 30 |
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Dog (Canis familiaris) |
Mammalia | GPR179 30 |
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Cow (Bos Taurus) |
Mammalia | GPR179 30 |
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Mouse (Mus musculus) |
Mammalia | Gpr179 30 17 |
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Rat (Rattus norvegicus) |
Mammalia | Gpr179 30 |
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Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gpr179 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | LOC101884475 30 |
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SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636173 | Uncertain Significance: Retinitis pigmentosa | 38,328,725(-) | TCTC/T | INFRAME_DELETION | |
667427 | Conflicting Interpretations: not specified; not provided | 38,330,429(-) | ATC/A | FRAMESHIFT_VARIANT | |
808255 | Likely Pathogenic: not provided | 38,335,105(-) | G/A | NONSENSE | |
866143 | Likely Pathogenic: Retinal dystrophy | 38,328,868(-) | GCT/G | FRAMESHIFT_VARIANT | |
866144 | Uncertain Significance: Retinal dystrophy | 38,328,866(-) | C/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2758688 | CNV | gain+loss | 17122850 |
esv33106 | CNV | gain | 17666407 |
nsv1146669 | OTHER | inversion | 26484159 |
nsv428341 | CNV | gain+loss | 18775914 |
Disorder | Aliases | PubMed IDs |
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night blindness, congenital stationary, type 1e |
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congenital stationary night blindness |
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night blindness |
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abnormal threshold of rods |
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night blindness, congenital stationary, type 1b |
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