GRK7

Chr 3

G protein-coupled receptor kinase 7

Also known as: GPRK7

NCBI Gene: 131890 ENSG00000114124 UniProt: Q8WTQ7 OMIM: 606987

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]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.21

LOEUF

GOF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.21LOEUF

pLI 0.000

Z-score 0.89

OE 0.77 (0.51–1.21)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.96Z-score

OE missense 0.85 (0.77–0.94)

288 obs / 337.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.77 (0.51–1.21)

0≤0.351.4

Missense OE?0.85 (0.77–0.94)

0≤0.61.4

Synonymous OE?0.88

0≤1.21.6

LoF obs/exp: 14 / 18.1Missense obs/exp: 288 / 337.9Syn Z: 1.11

Background carrier burden — how many people carry a rare variant somewhere in GRK7?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 64

691 rare PASS variants

Rare truncating (LoF)

1 in 910

95 rare PASS variants

Rare synonymous (reference)

1 in 160

285 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for GRK7. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 86	1 in 2,100
South Asian	~43k	1 in 74	1 in 590
Remaining (unassigned)	~30k	1 in 55	1 in 1,100
European (Finnish)	~27k	1 in 250	1 in 1,100
Admixed American	~22k	1 in 59	1 in 1,100
African / African American	~21k	1 in 43	1 in 410
East Asian	~20k	1 in 64	1 in 1,400
Ashkenazi Jewish	~13k	1 in 240	1 in 2,200
Middle Eastern	~2,884	1 in 66	≈ 1 in 950

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 4 coding exons well covered in gnomAD exomes and genomes.? see exons ↓