OR1D2 (olfactory receptor family 1 subfamily D member 2)

Gene

• Entrez ID: 4991
• Gene name: Olfactory receptor family 1 subfamily D member 2
• Gene symbol: OR1D2
• Synonyms (NCBI Gene): OLFR1, OR17-4
• Chromosome: 17
• Chromosome location: 17p13.3
• 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)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	TAS	1315913
GO:0004984	Function	Olfactory receptor activity	IBA
GO:0004984	Function	Olfactory receptor activity	IDA	12663925
GO:0004984	Function	Olfactory receptor activity	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8097991
GO:0006935	Process	Chemotaxis	IEA
GO:0007165	Process	Signal transduction	IBA
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IDA	16820410
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007338	Process	Single fertilization	IEA
GO:0007608	Process	Sensory perception of smell	IEA
GO:0007608	Process	Sensory perception of smell	TAS	8097991
GO:0016020	Component	Membrane	IEA
GO:0042802	Function	Identical protein binding	IPI	18840687, 19581598
GO:0050911	Process	Detection of chemical stimulus involved in sensory perception of smell	IEA

Other IDs

• MIM: 164342
• HGNC: 8183
• e!Ensembl: ENSG00000184166

Protein

• UniProt ID: P34982
• Protein name: Olfactory receptor 1D2 (Olfactory receptor 17-4) (OR17-4) (Olfactory receptor OR17-6) (Olfactory receptor-like protein HGMP07E)
• Protein function: Odorant receptor which may be involved in sperm chemotaxis. Bourgeonal is a strong chemoattractant for sperm in vitro and is shown to be a strong agonist for OR1D2 in vitro. May also function in olfactory reception. {ECO:0000269|PubMed:12663925,
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13853	7tm_4	31 → 307	Olfactory receptor	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in testis. Expressed in spermatozoa (at protein level). Expressed in olfactory epithelium. {ECO:0000269|PubMed:12663925, ECO:0000269|PubMed:15458659, ECO:0000269|PubMed:16820410}.
• Sequence:

  MDGGNQSEGSEFLLLGMSESPEQQRILFWMFLSMYLVTVVGNVLIILAISSDSRLHTPVY
  FFLANLSFTDLFFVTNTIPKMLVNLQSHNKAISYAGCLTQLYFLVSLVALDNLILAVMAY
  DRYVAICCPLHYTTAMSPKLCILLLSLCWVLSVLYGLIHTLLMTRVTFCGSRKIHYIFCE
  MYVLLRMACSNIQINHTVLIATGCFIFLIPFGFVIISYVLIIRAILRIPSVSKKYKAFST
  CASHLGAVSLFYGTLCMVYLKPLHTYSVKDSVATVMYAVVTPMMNPFIYSLRNKDMHGAL
  GRLLDKHFKRLT

• Sequence length: 312

Pathways

KEGG:

Olfactory transduction

Reactome:

Olfactory Signaling Pathway

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations