GRK3

G protein-coupled receptor kinase 3, the group of Pleckstrin homology domain containing|AGC family kinases

Basic information

Region (hg38): 22:25564674-25729294

Previous symbols: [ "ADRBK2" ]

Links

ENSG00000100077 ∙ NCBI:157 ∙ OMIM:109636 ∙ HGNC:290 ∙ Uniprot:P35626 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GRK3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GRK3 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			4			4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	0	1

Variants in GRK3

This is a list of pathogenic ClinVar variants found in the GRK3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
22-25604424-C-G		not specified	Uncertain significance (Aug 13, 2021)
22-25661646-A-G		not specified	Uncertain significance (Nov 16, 2021)
22-25687593-C-T		not specified	Uncertain significance (Aug 13, 2021)
22-25687629-C-T		not specified	Uncertain significance (Nov 09, 2021)
22-25687641-C-A			Benign (Apr 24, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GRK3	protein_coding	protein_coding	ENST00000324198	21	164446

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.711	0.289	125697	0	51	125748	0.000203

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.63	234	378	0.619	0.0000208	4581
Missense in Polyphen		77	141.72	0.54333		1679
Synonymous	1.60	109	132	0.823	0.00000771	1186
Loss of Function	4.86	9	43.6	0.206	0.00000225	530

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000151	0.000151
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00134	0.00134
European (Non-Finnish)	0.0000983	0.0000967
Middle Eastern	0.0000544	0.0000544
South Asian	0.000170	0.000163
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Specifically phosphorylates the agonist-occupied form of the beta-adrenergic and closely related receptors.
• Pathway: Glutamatergic synapse - Homo sapiens (human);Endocytosis - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);Olfactory transduction - Homo sapiens (human);Morphine addiction - Homo sapiens (human);Hedgehog signaling pathway - Homo sapiens (human);Diuretics Pathway, Pharmacodynamics;Beta-agonist/Beta-blocker Pathway, Pharmacodynamics;Corticotropin-releasing hormone signaling pathway;Hedgehog Signaling Pathway;Signaling by GPCR;Signal Transduction;Vesicle-mediated transport;Membrane Trafficking;G alpha (s) signalling events;CRH;IL-7 signaling;Clathrin-mediated endocytosis;Thromboxane A2 receptor signaling;JAK STAT pathway and regulation;EPO signaling;Cargo recognition for clathrin-mediated endocytosis;IL4;VEGF;GPCR downstream signalling;PAR1-mediated thrombin signaling events (Consensus)

Recessive Scores

• pRec: 0.250

Intolerance Scores

• rvis_EVS: -0.73
• rvis_percentile_EVS: 14.02

Haploinsufficiency Scores

• pHI: 0.166
• hipred: Y
• hipred_score: 0.666
• ghis: 0.611

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Grk3
• Phenotype: taste/olfaction phenotype

Zebrafish Information Network

• Gene name: grk3
• Affected structure: slow muscle cell
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: protein phosphorylation;signal transduction;G protein-coupled receptor signaling pathway;receptor internalization
• Cellular component: cytosol;plasma membrane
• Molecular function: protein kinase activity;G protein-coupled receptor kinase activity;ATP binding;beta-adrenergic receptor kinase activity