OR4D6

Chr 11

olfactory receptor family 4 subfamily D member 6

Also known as: OR11-250

NCBI Gene: 219983 ENSG00000166884 UniProt: Q8NGJ1

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

1.50

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.50LOEUF

pLI 0.005

Z-score 0.74

OE 0.67 (0.33–1.50)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.20Z-score

OE missense 1.04 (0.92–1.18)

179 obs / 171.5 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.67 (0.33–1.50)

0≤0.351.4

Missense OE?1.04 (0.92–1.18)

0≤0.61.4

Synonymous OE?1.02

0≤1.21.6

LoF obs/exp: 4 / 6.0Missense obs/exp: 179 / 171.5Syn Z: -0.15

Background carrier burden — how many people carry a rare variant somewhere in OR4D6?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 65

400 rare PASS variants

Rare truncating (LoF)

1 in 3,100

51 rare PASS variants

Rare synonymous (reference)

1 in 220

179 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for OR4D6. 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 150	1 in 4,000
South Asian	~43k	1 in 80	1 in 2,400
Remaining (unassigned)	~30k	1 in 63	≈ 1 in 7,500
European (Finnish)	~27k	1 in 320	none seen
Admixed American	~22k	1 in 74	1 in 2,200
African / African American	~21k	1 in 89	1 in 590
East Asian	~20k	1 in 110	1 in 770
Ashkenazi Jewish	~13k	1 in 310	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 63	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): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓