GRK7
protein-codingG protein-coupled receptor kinase 7, the group of AGC family kinases
Gene summary
This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. It is specifically expressed in the retina and the encoded protein has been shown to phosphorylate cone opsins and initiate their deactivation. [provided by RefSeq, Jul 2008]
- GPRK7
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~55.9 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to GRK7 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_139209.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 86 | 1 | 87 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 87 | 1 | 0 | 88 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_631948.1 | 4 | MANE Select | |
| Ensembl | ENSP00000508022.1 | 4 | MANE Select | |
| Ensembl | ENSP00000264952.2 | 4 | Standard | |
| Ensembl | ENSP00000264952.2 | 4 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| grk7a | Danio rerio | Structure: cone photoresponse recovery Quality: decreased efficacy abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Endocytosis - Homo sapiens (human)
- Chemokine signaling pathway - Homo sapiens (human)
- Phototransduction - Homo sapiens (human)
- Signaling by GPCR
- Signal Transduction
Biological Process
- signal transduction
- visual perception
- regulation of rhodopsin mediated signaling pathway
- protein autophosphorylation
Molecular Function
- G protein-coupled receptor kinase activity
- ATP binding
- rhodopsin kinase activity
Cellular Component
- photoreceptor disc membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000264952
- Coding exons
- 4
- Length
- 40343
- Individuals with no LoFs
- 125562
- Homozygous LoFs
- 2
- Heterozygous LoFs
- 184
- Defined
- 125748
- p
- 0.000740
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.964 | 288 | 338 | 0.852 | 0.0000205 | 3642 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0011 | 0.0010 | notable |
| Latino/Admixed American | 0.0014 | 0.0014 | notable |
| Ashkenazi Jewish | 0.00020 | 0.00020 | rare |
| East Asian | 0.0029 | 0.0028 | notable |
| Finnish | 0.00052 | 0.00051 | rare |
| European (Non-Finnish) | 0.00029 | 0.00028 | rare |
| South Asian | 0.00069 | 0.00069 | rare |
| Other | 0.00068 | 0.00065 | rare |
dbNSFP Gene Annotations
Source:
- 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}.;
Recessive Scores
- pRec
- 0.116
Intolerance Scores
- LoFtool
- 0.851
- RVIS EVS
- 0.71
- RVIS percentile EVS
- 85.76
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.312
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |