GPR176

Chr 15

G protein-coupled receptor 176

Also known as: HB-954

NCBI Gene: 11245 ENSG00000166073 UniProt: Q14439

Members of the G protein-coupled receptor family, such as GPR176, are cell surface receptors involved in responses to hormones, growth factors, and neurotransmitters (Hata et al., 1995 [PubMed 7893747]).[supplied by OMIM, Jul 2008]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.78

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.78LOEUF

pLI 0.008

Z-score 2.18

OE 0.40 (0.21–0.78)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.30Z-score

OE missense 0.79 (0.70–0.88)

228 obs / 290.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.40 (0.21–0.78)

0≤0.351.4

Missense OE?0.79 (0.70–0.88)

0≤0.61.4

Synonymous OE?0.92

0≤1.21.6

LoF obs/exp: 6 / 15.2Missense obs/exp: 228 / 290.2Syn Z: 0.67

Background carrier burden — how many people carry a rare variant somewhere in GPR176?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 110

666 rare PASS variants

Rare truncating (LoF)

1 in 3,700

85 rare PASS variants

Rare synonymous (reference)

1 in 110

307 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for GPR176. 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 140	1 in 5,500
South Asian	~43k	1 in 64	1 in 3,000
Remaining (unassigned)	~30k	1 in 91	1 in 5,700
European (Finnish)	~27k	1 in 440	1 in 2,200
Admixed American	~22k	1 in 84	1 in 2,000
African / African American	~21k	1 in 92	1 in 1,300
East Asian	~20k	1 in 120	1 in 3,100
Ashkenazi Jewish	~13k	1 in 230	none seen
Middle Eastern	~2,884	1 in 95	≈ 1 in 2,800

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): 2 of 3 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 3.? see exons ↓