GRK7

G protein-coupled receptor kinase 7, the group of AGC family kinases

Basic information

Region (hg38): 3:141763407-141819352

Previous symbols: [ "GPRK7" ]

Links

ENSG00000114124 ∙ NCBI:131890 ∙ OMIM:606987 ∙ HGNC:17031 ∙ Uniprot:Q8WTQ7 ∙ 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 GRK7 gene.

• Inborn genetic diseases (25 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GRK7 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						0
missense			25			25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	0	0

Variants in GRK7

This is a list of pathogenic ClinVar variants found in the GRK7 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-141778342-C-T		not specified	Uncertain significance (Oct 13, 2023)
3-141778378-C-T		not specified	Uncertain significance (Oct 02, 2023)
3-141778423-G-A		not specified	Uncertain significance (Dec 28, 2023)
3-141778480-G-C		not specified	Uncertain significance (Mar 22, 2023)
3-141778666-C-G		not specified	Uncertain significance (Nov 07, 2022)
3-141778685-G-A		not specified	Uncertain significance (Jun 02, 2023)
3-141778801-G-A		not specified	Uncertain significance (Dec 19, 2022)
3-141778816-T-C		not specified	Uncertain significance (Feb 28, 2023)
3-141778837-C-T		not specified	Uncertain significance (Sep 14, 2023)
3-141778858-A-G		not specified	Uncertain significance (Sep 16, 2021)
3-141780417-G-A		not specified	Uncertain significance (Jul 14, 2021)
3-141780466-G-A		not specified	Uncertain significance (Jun 29, 2023)
3-141780468-C-G		not specified	Uncertain significance (Apr 14, 2022)
3-141780470-C-T		not specified	Uncertain significance (Feb 27, 2023)
3-141780494-A-G		not specified	Uncertain significance (Oct 22, 2021)
3-141780497-G-A		not specified	Uncertain significance (Dec 20, 2023)
3-141780606-A-C		not specified	Uncertain significance (Nov 21, 2023)
3-141780608-G-A		not specified	Uncertain significance (Nov 09, 2021)
3-141780614-A-T		not specified	Uncertain significance (Nov 12, 2021)
3-141780636-G-A		not specified	Uncertain significance (Aug 17, 2021)
3-141780716-C-A		not specified	Uncertain significance (Dec 28, 2022)
3-141807646-C-A		not specified	Uncertain significance (Aug 28, 2021)
3-141807703-A-G		not specified	Uncertain significance (Mar 22, 2023)
3-141807746-G-T		not specified	Uncertain significance (Apr 21, 2022)
3-141807786-G-A		not specified	Uncertain significance (May 23, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GRK7	protein_coding	protein_coding	ENST00000264952	4	40343

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.98e-8	0.437	125562	2	184	125748	0.000740

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.964	288	338	0.852	0.0000205	3642
Missense in Polyphen		105	127.16	0.82571		1452
Synonymous	1.11	124	141	0.881	0.00000916	1082
Loss of Function	0.887	14	18.1	0.775	9.48e-7	219

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00245	0.00245
Ashkenazi Jewish	0.000198	0.000198
East Asian	0.00289	0.00283
Finnish	0.000515	0.000508
European (Non-Finnish)	0.000286	0.000281
Middle Eastern	0.00289	0.00283
South Asian	0.000690	0.000686
Other	0.000677	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Retina-specific kinase involved in the shutoff of the photoresponse and adaptation to changing light conditions via cone opsin phosphorylation, including rhodopsin (RHO). {ECO:0000269|PubMed:15946941}.
• Pathway: Endocytosis - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);Phototransduction - Homo sapiens (human);Signaling by GPCR;Signal Transduction;IL-7 signaling;JAK STAT pathway and regulation;EPO signaling;G alpha (i) signalling events;Inactivation, recovery and regulation of the phototransduction cascade;The phototransduction cascade;Visual phototransduction;VEGF;GPCR downstream signalling;Visual signal transduction: Cones (Consensus)

Recessive Scores

• pRec: 0.116

Intolerance Scores

• loftool: 0.851
• rvis_EVS: 0.71
• rvis_percentile_EVS: 85.76

Haploinsufficiency Scores

• pHI: 0.102
• hipred: N
• hipred_score: 0.219

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.312

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Zebrafish Information Network

• Gene name: grk7a
• Affected structure: cone photoresponse recovery
• Phenotype tag: abnormal
• Phenotype quality: decreased efficacy

Gene ontology

• Biological process: signal transduction;visual perception;regulation of rhodopsin mediated signaling pathway;protein autophosphorylation
• Cellular component: photoreceptor disc membrane
• Molecular function: G protein-coupled receptor kinase activity;ATP binding;rhodopsin kinase activity