Gene Gene information from NCBI Gene database.
Entrez ID 7932
Gene name Olfactory receptor family 2 subfamily H member 2
Gene symbol OR2H2
Synonyms (NCBI Gene)
FAT11OLFR2OLFR42BOR2H3dJ271M21.2hs6M1-12
Chromosome 6
Chromosome location 6p22.1
Summary 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 sing
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0004984 Function Olfactory receptor activity IBA
GO:0004984 Function Olfactory receptor activity IEA
GO:0004984 Function Olfactory receptor activity TAS 7665158
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600578 8253 ENSG00000204657
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95918
Protein name Olfactory receptor 2H2 (Hs6M1-12) (Olfactory receptor 2H3) (Olfactory receptor-like protein FAT11)
Protein function Odorant receptor.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13853 7tm_4 29 306 Olfactory receptor Family
Sequence
Sequence length 312
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Olfactory transduction   Olfactory Signaling Pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
HYPOTHYROIDISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSORIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Celiac Disease Celiac disease Pubtator 31554915 Associate
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus Systemic Systemic lupus erythematosus Pubtator 19851445 Associate
★☆☆☆☆
Found in Text Mining only
Rheumatoid Arthritis Rheumatoid arthritis GWASDB_DG 19503088
★★☆☆☆
Found in Text Mining + Unknown/Other Associations