OR2AT4

Chr 11

olfactory receptor family 2 subfamily AT member 4

Also known as: OR11-265

NCBI Gene: 341152 ENSG00000171561 UniProt: A6NND4

OR2AT4 encodes an olfactory receptor that detects odorant molecules and is activated by synthetic sandalwood compounds, with additional roles in keratinocyte wound healing and hair follicle growth regulation. No pathogenic variants or associated diseases have been reported for this gene in pediatric or adult populations.

ResearchSummary from RefSeq, UniProt

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]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.62

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?

1.62LOEUF

pLI 0.004

Z-score 0.54

OE 0.75 (0.36–1.62)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.02Z-score

OE missense 1.00 (0.89–1.14)

180 obs / 179.4 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.75 (0.36–1.62)

0≤0.351.4

Missense OE?1.00 (0.89–1.14)

0≤0.61.4

Synonymous OE?0.94

0≤1.21.6

LoF obs/exp: 4 / 5.4Missense obs/exp: 180 / 179.4Syn Z: 0.43

Background carrier burden — how many people carry a rare variant somewhere in OR2AT4?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 130

386 rare PASS variants

Rare truncating (LoF)

1 in 3,500

36 rare PASS variants

Rare synonymous (reference)

1 in 410

156 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for OR2AT4. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

Exome coverage (gnomAD): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓