GPR68 Chromosome 14
G protein-coupled receptor 68
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What This Gene Does
The protein encoded by this gene is a G protein-coupled receptor for sphingosylphosphorylcholine. The encoded protein is a proton-sensing receptor, inactive at pH 7.8 but active at pH 6.8. Mutations in this gene are a cause of amelogenesis imperfecta. [provided by RefSeq, Feb 2017]
Gene Info
Gene Group
G protein-coupled receptors, Class A orphans
Locus Type
gene with protein product
Location
14q32.11
Ensembl
ENSG00000119714
Associated Conditions (3)
Amelogenesis imperfecta
hypomaturation type
IIa6
Key Variants
RS61745752
Conflicting classifications of pathogenicity
Amelogenesis imperfecta, hypomaturation type, IIa6
Health Risk
RS1057517671
Pathogenic
Amelogenesis imperfecta, hypomaturation type, IIa6
Health Risk
RS1057517672
Pathogenic
Amelogenesis imperfecta, hypomaturation type, IIa6
Health Risk
RS1555409827
Pathogenic
Amelogenesis imperfecta, hypomaturation type, IIa6
Health Risk
RS2140845247
Pathogenic
Amelogenesis imperfecta, Amelogenesis imperfecta
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS61745752 | Health Risk | Conflicting classifications of pathogenicity | Amelogenesis imperfecta, hypomaturation type, IIa6 |
| RS1057517671 | Health Risk | Pathogenic | Amelogenesis imperfecta, hypomaturation type, IIa6 |
| RS1057517672 | Health Risk | Pathogenic | Amelogenesis imperfecta, hypomaturation type, IIa6 |
| RS1555409827 | Health Risk | Pathogenic | Amelogenesis imperfecta, hypomaturation type, IIa6 |
| RS2140845247 | Health Risk | Pathogenic | Amelogenesis imperfecta, Amelogenesis imperfecta |