GPR143 Chromosome X
G protein-coupled receptor 143
Upload your DNA to see your personal genotypes for variants in GPR143.
What This Gene Does
This gene encodes a protein that binds to heterotrimeric G proteins and is targeted to melanosomes in pigment cells. This protein is thought to be involved in intracellular signal transduction mechanisms. Mutations in this gene cause ocular albinism type 1, also referred to as Nettleship-Falls type ocular albinism, a severe visual disorder. A related pseudogene has been identified on chromosome Y. [provided by RefSeq, Dec 2009]
Gene Info
Gene Group
7TM uncharacterized proteins
Locus Type
gene with protein product
Location
Xp22.2
Ensembl
ENSG00000101850
Associated Conditions (12)
Ocular albinism
type I
Inborn genetic diseases
Nystagmus 6
congenital
X-linked
GPR143-related foveal hypoplasia
Albinism
Retinal disorder
GPR143-related disorder
Nystagmus
Reduced eye contact
Key Variants
RS1055796261
Conflicting classifications of pathogenicity
Health Risk
RS137852297
Conflicting classifications of pathogenicity
Ocular albinism, type I, Inborn genetic diseases
Health Risk
RS137938780
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138809166
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149605054
Conflicting classifications of pathogenicity
Health Risk
RS200574016
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200870584
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201596200
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2146700794
Conflicting classifications of pathogenicity
Health Risk
RS374596288
Conflicting classifications of pathogenicity
Health Risk
RS375563631
Conflicting classifications of pathogenicity
Health Risk
RS62635037
Conflicting classifications of pathogenicity
Health Risk
All Variants (99)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2146685874 | Health Risk | Pathogenic | — |
| RS2146687477 | Health Risk | Pathogenic | — |
| RS2146689449 | Health Risk | Pathogenic | — |
| RS2146689530 | Health Risk | Pathogenic | — |
| RS2146689576 | Health Risk | Pathogenic | — |
| RS2146699547 | Health Risk | Pathogenic | — |
| RS2146699615 | Health Risk | Pathogenic | — |
| RS2146699664 | Health Risk | Pathogenic | Ocular albinism, type I, Ocular albinism |
| RS2146700764 | Health Risk | Pathogenic | Ocular albinism, type I, Ocular albinism |
| RS2146701042 | Health Risk | Pathogenic | — |
| RS2146705597 | Health Risk | Pathogenic | Nystagmus 6, congenital, X-linked |
| RS2146705633 | Health Risk | Pathogenic | — |
| RS2146705785 | Health Risk | Pathogenic | — |
| RS2146705899 | Health Risk | Pathogenic | — |
| RS2146705998 | Health Risk | Pathogenic | Ocular albinism, type I, Ocular albinism |
| RS2146706023 | Health Risk | Pathogenic | — |
| RS2146706095 | Health Risk | Pathogenic | — |
| RS2518622570 | Health Risk | Pathogenic | — |
| RS2518622659 | Health Risk | Pathogenic | — |
| RS2518622665 | Health Risk | Pathogenic | GPR143-related foveal hypoplasia, GPR143-related foveal hypoplasia |
| RS2518622680 | Health Risk | Pathogenic | Ocular albinism, type I, Ocular albinism |
| RS2518626710 | Health Risk | Pathogenic | — |
| RS2518626744 | Health Risk | Pathogenic | — |
| RS2518626922 | Health Risk | Pathogenic | — |
| RS2518630262 | Health Risk | Pathogenic | — |
| RS2518638213 | Health Risk | Pathogenic | — |
| RS2518641960 | Health Risk | Pathogenic | — |
| RS2518642062 | Health Risk | Pathogenic | Nystagmus 6, congenital, X-linked |
| RS2518642222 | Health Risk | Pathogenic | — |
| RS2518642442 | Health Risk | Pathogenic | Ocular albinism, type I, Ocular albinism |
| RS2518642453 | Health Risk | Pathogenic | — |
| RS2518642463 | Health Risk | Pathogenic | — |
| RS2518642504 | Health Risk | Pathogenic | GPR143-related disorder, GPR143-related disorder |
| RS281865177 | Health Risk | Pathogenic | — |
| RS281865182 | Health Risk | Pathogenic | — |
| RS281865183 | Health Risk | Pathogenic | Ocular albinism, type I, Ocular albinism |
| RS62635018 | Health Risk | Pathogenic | Ocular albinism, type I, Ocular albinism |
| RS62635027 | Health Risk | Pathogenic | — |
| RS62635030 | Health Risk | Pathogenic | Ocular albinism, type I, Ocular albinism |
| RS62635045 | Health Risk | Pathogenic | Albinism, GPR143-related foveal hypoplasia, Albinism |
| RS62645741 | Health Risk | Pathogenic | Ocular albinism, type I, Ocular albinism |
| RS63749126 | Health Risk | Pathogenic | — |
| RS763168997 | Health Risk | Pathogenic | — |
| RS1057518787 | Health Risk | Pathogenic/Likely pathogenic | Nystagmus, Ocular albinism, Reduced eye contact |
| RS2518626831 | Health Risk | Pathogenic/Likely pathogenic | Ocular albinism, type I, Nystagmus 6 |
| RS281865184 | Health Risk | Pathogenic/Likely pathogenic | Ocular albinism, type I, Ocular albinism |
| RS62635024 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS62635289 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS62635762 | Health Risk | Pathogenic/Likely pathogenic | — |