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GeneE
1 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
OR9K2
olfactory receptor family 9 subfamily K member 2
Chromosome 12 Β· 12q13.2
NCBI Gene: 441639Ensembl: ENSG00000170605.7HGNC: HGNC:15339UniProt: A0A126GW01
5PubMed Papers
5Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sensory perception of smellodorant bindingplasma membraneolfactory receptor activityliver diseaseovarian neoplasmplacenta praeviaatopic eczema
✦AI Summary

OR9K2 is an olfactory receptor protein that functions as an odorant receptor. Based on limited published evidence, OR9K2 exhibits odorant binding and olfactory receptor activity at the plasma membrane, contributing to sensory perception of smell through standard G-protein coupled receptor mechanisms. A rare variant in OR9K2 was identified in individuals with autism spectrum disorder 1, though the authors note further validation is required to establish any association between OR9K2 variants and ASD pathogenesis.

Sources cited
1
Rare OR9K2 variant identified in autism spectrum disorder patients; sensory perception genes implicated in ASD; requires further validation
PMID: 39038432
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜5
liver diseaseOpen Targets
0.14Weak
ovarian neoplasmOpen Targets
0.04Suggestive
placenta praeviaOpen Targets
0.04Suggestive
atopic eczemaOpen Targets
0.03Suggestive
allergic asthmaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
OR1D2Shared pathway100%OR1D5Shared pathway100%OR6A2Shared pathway100%OR5D3Shared pathway100%OR5I1Shared pathway100%OR1C1Shared pathway100%
Tissue Expression6 tissues
Lung
0%
Bone Marrow
0%
Ovary
0%
Heart
0%
Liver
0%
Brain
0%
Gene Interaction Network
Click a node to explore
OR9K2OR1D2OR1D5OR6A2OR5D3OR5I1OR1C1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q8NGE7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.80LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.22 [0.80–1.80]
RankingsWhere OR9K2 stands among ~20K protein-coding genes
  • #18,455of 20,598
    Most Researched5
  • #16,600of 17,882
    Most Constrained (LOEUF)1.80
Genes detectedOR9K2
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Rare Pathogenic Variants Identified in Whole Exome Sequencing of Monozygotic Twins With Autism Spectrum Disorder.
PMID: 39038432
Pediatr Neurol Β· 2024
1.00