GRK2
G protein-coupled receptor kinase 2
Summary
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]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1894111 | 11:67,038,612 | T/A | — | — |
| rs35590263 | 11:67,039,030 | A/G | regulatory region variant | — |
| rs753803100 | 11:67,046,986 | C/T | — | uncertain significance |
| rs2136500272 | 11:67,047,337 | C/T | — | pathogenic |
| rs2136501226 | 11:67,048,255 | G/A | — | likely pathogenic |
| rs138698093 | 11:67,049,953 | C/T | — | likely benign |
| rs1180854884 | 11:67,050,006 | C/T | — | likely benign |
| rs773040164 | 11:67,050,675 | G/A | — | uncertain significance |
| rs769695885 | 11:67,051,370 | G/A | — | uncertain significance |
| rs752687902 | 11:67,051,677 | T/A | — | likely benign |
| rs1449906556 | 11:67,051,773 | C/T | — | uncertain significance |
| rs115867067 | 11:67,052,322 | C/T | — | benign |
| rs10896164 | 11:67,052,466 | G/T | — | — |
| rs765999418 | 11:67,052,656 | C/T | — | likely benign |
| rs2229537 | 11:67,052,920 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.