GeneBe

GRK7

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

Basic information

Region (hg38): 3:141763408-141819352

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.

  • not_specified (79 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. These statistics are base on transcript: NM_000139209.3. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
0
missense
78
clinvar
1
clinvar
 79
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 78 1 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
GRK7protein_codingprotein_codingENST00000264952 440343
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
1.98e-80.43712556221841257480.000740
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.9642883380.8520.00002053642
Missense in Polyphen105127.160.825711452
Synonymous1.111241410.8810.000009161082
Loss of Function0.8871418.10.7759.48e-7219

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.002450.00245
Ashkenazi Jewish0.0001980.000198
East Asian0.002890.00283
Finnish0.0005150.000508
European (Non-Finnish)0.0002860.000281
Middle Eastern0.002890.00283
South Asian0.0006900.000686
Other0.0006770.000652

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
ghis

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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