OR4N4

Chr 15

olfactory receptor family 4 subfamily N member 4

Also known as: OR15-1, OR15-5

NCBI Gene: 283694 ENSG00000183706 UniProt: Q8N0Y3

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

1.86

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?

1.86LOEUF

pLI 0.000

Z-score -0.34

OE 1.16 (0.62–1.86)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.77Z-score

OE missense 1.40 (1.25–1.56)

218 obs / 156.0 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.16 (0.62–1.86)

0≤0.351.4

Missense OE?1.40 (1.25–1.56)

0≤0.61.4

Synonymous OE?1.43

0≤1.21.6

LoF obs/exp: 6 / 5.2Missense obs/exp: 218 / 156.0Syn Z: -2.54

Background carrier burden — how many people carry a rare variant somewhere in OR4N4?

gnomAD v4 · ~577k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 200

24 rare PASS variants

Rare truncating (LoF)

1 in 350

13 rare PASS variants

Rare synonymous (reference)

1 in 2,200

8 rare PASS variants

Rare missense and truncating variants are carried at similar rates in OR4N4; this gene does not show strong loss-of-function constraint by this measure. 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)	~438k	1 in 290	1 in 2,300
South Asian	~35k	1 in 170	1 in 3,600
Remaining (unassigned)	~24k	1 in 350	1 in 1,300
European (Finnish)	~22k	1 in 2,600	≈ 1 in 21,000
East Asian	~18k	1 in 340	≈ 1 in 17,000
African / African American	~17k	1 in 420	1 in 1,100
Admixed American	~13k	1 in 660	≈ 1 in 6,200
Ashkenazi Jewish	~11k	1 in 880	≈ 1 in 3,700
Middle Eastern	~2,280	≈ 1 in 1,300	none seen

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): 0 of 1 coding exons well covered in gnomAD exomes; exon 1 poorly covered. Genomes: 0 of 1 (exon 1 below).? see exons ↓