GRK2 Chromosome 11
G protein-coupled receptor kinase 2
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What This Gene Does
This gene encodes a member of the G protein-coupled receptor kinase family of proteins. The encoded protein phosphorylates the beta-adrenergic receptor as well as a wide range of other substrates including non-GPCR cell surface receptors, and cytoskeletal, mitochondrial, and transcription factor proteins. Data from rodent models supports a role for this gene in embryonic development, heart function and metabolism. Elevated expression of this gene has been observed in human patients with heart failure and Alzheimer's disease. [provided by RefSeq, Sep 2017]
Gene Info
Gene Group
"Pleckstrin homology domain containing|G protein-coupled receptor kinase family"
Locus Type
gene with protein product
Location
11q13.2
Ensembl
ENSG00000173020
Associated Conditions (1)
Jeune thoracic dystrophy
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2136501226 | Health Risk | Likely pathogenic | Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS2136504839 | Health Risk | Likely pathogenic | Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS2136500272 | Health Risk | Pathogenic | Jeune thoracic dystrophy, Jeune thoracic dystrophy |