GPR83

Chr 11

G protein-coupled receptor 83

Also known as: GIR, GPR72

NCBI Gene: 10888 ENSG00000123901 UniProt: Q9NYM4 OMIM: 605569

Predicted to enable neuropeptide receptor activity. Predicted to be involved in neuropeptide signaling pathway and phospholipase C-activating G protein-coupled receptor signaling pathway. Predicted to act upstream of or within response to glucocorticoid. Located in cilium. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in GPR83?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 71

657 rare PASS variants

Rare truncating (LoF)

1 in 2,300

63 rare PASS variants

Rare synonymous (reference)

1 in 180

257 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for GPR83. 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 97	1 in 2,500
South Asian	~43k	1 in 81	1 in 2,500
Remaining (unassigned)	~30k	1 in 53	1 in 2,300
European (Finnish)	~27k	1 in 300	none seen
Admixed American	~22k	1 in 76	1 in 2,000
African / African American	~21k	1 in 62	1 in 1,900
East Asian	~20k	1 in 110	1 in 570
Ashkenazi Jewish	~13k	1 in 410	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 84	≈ 1 in 920

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 ↓