GRK4

Chr 4

G protein-coupled receptor kinase 4

Also known as: GPRK2L, GPRK4, GRK4a, IT11

NCBI Gene: 2868 ENSG00000125388 UniProt: P32298 OMIM: 137026

This protein phosphorylates activated G protein-coupled receptors to initiate their deactivation, with different isoforms showing specificity for various receptors including rhodopsin, dopamine D3 receptors, and beta-2 adrenergic receptors. The gene is extremely intolerant to loss-of-function variants, but no Mendelian pediatric neurological disorders have been established from GRK4 mutations. Variants in this gene have been associated with hypertension in population studies.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating its deactivation. This gene has been linked to both genetic and acquired hypertension. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.09

LOEUF

GOF

Mechanism· predicted