OR2B8

Chr 6

olfactory receptor family 2 subfamily B member 8 (gene/pseudogene)

Also known as: OR2B8P, OR6-10, dJ313I6.4, hs6M1-29P

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]

2
ClinVar variants
2
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryOR2B8
📋
ClinVar Variants
2 Pathogenic / Likely Pathogenic of 2 total submissions
Some data sources returned errors (2)

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

2 submitted variants in ClinVar

Classification Summary

Pathogenic2
2
Pathogenic

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
2
Likely Pathogenic
0
VUS
0
Likely Benign
0
Benign
0
Total2

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

OR2B8 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

No OMIM entries found.