OR5AK2

Chr 11

olfactory receptor family 5 subfamily AK member 2

NCBI Gene: 390181 ENSG00000181273 UniProt: Q8NH90

Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.72

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.72LOEUF

pLI 0.001

Z-score 0.24

OE 0.89 (0.46–1.72)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.93Z-score

OE missense 1.43 (1.28–1.60)

227 obs / 158.7 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.89 (0.46–1.72)

0≤0.351.4

Missense OE?1.43 (1.28–1.60)

0≤0.61.4

Synonymous OE?1.55

0≤1.21.6

LoF obs/exp: 5 / 5.6Missense obs/exp: 227 / 158.7Syn Z: -3.23

Background carrier burden — how many people carry a rare variant somewhere in OR5AK2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 140

472 rare PASS variants

Rare truncating (LoF)

1 in 2,100

45 rare PASS variants

Rare synonymous (reference)

1 in 290

186 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for OR5AK2. 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 230	1 in 2,000
South Asian	~43k	1 in 110	1 in 1,000
Remaining (unassigned)	~30k	1 in 88	1 in 2,500
European (Finnish)	~27k	1 in 760	≈ 1 in 27,000
Admixed American	~22k	1 in 150	1 in 3,200
African / African American	~21k	1 in 120	1 in 870
East Asian	~20k	1 in 130	1 in 2,100
Ashkenazi Jewish	~13k	1 in 670	1 in 600
Middle Eastern	~2,884	1 in 190	≈ 1 in 930

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 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓