OR2K2
Chr 9olfactory receptor family 2 subfamily K member 2
Also known as: HSHTPCRH06, HTPCRH06, OR2AN1P, OR2AR1P
The OR2K2 protein is an odorant receptor that binds odor molecules in the nose and initiates G-protein-coupled signaling to trigger smell perception through its 7-transmembrane domain structure. No pediatric neurogenetic diseases have been definitively associated with OR2K2 mutations based on the available data. The predicted gain-of-function mechanism and low constraint scores suggest this gene may tolerate functional variants without causing disease.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
OR2K2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools