OR2J1

Chr 6

olfactory receptor family 2 subfamily J member 1

Also known as: 6M1-4P, OR2J1P, OR6-15, OR6-5, dJ80I19.2, hs6M1-4

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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.42
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.42LOEUF
pLI 0.023
Z-score 0.95
OE 0.56 (0.251.42)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.06Z-score
OE missense 0.99 (0.871.13)
162 obs / 164.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.56 (0.251.42)
00.351.4
Missense OE?0.99 (0.871.13)
00.61.4
Synonymous OE?1.22
01.21.6
LoF obs/exp: 3 / 5.4Missense obs/exp: 162 / 164.1Syn Z: -1.36

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

OR2J1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →