OR2C1 (olfactory receptor family 2 subfamily C member 1)

Gene

• Entrez ID: 4993
• Gene name: Olfactory receptor family 2 subfamily C member 1
• Gene symbol: OR2C1
• Synonyms (NCBI Gene): OLFmf3, OR2C2P
• Chromosome: 16
• Chromosome location: 16p13.3
• 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:0004984	Function	Olfactory receptor activity	IBA
GO:0004984	Function	Olfactory receptor activity	IEA
GO:0004984	Function	Olfactory receptor activity	TAS	9847080
GO:0005549	Function	Odorant binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005938	Component	Cell cortex	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007608	Process	Sensory perception of smell	IEA
GO:0016020	Component	Membrane	IEA
GO:0050907	Process	Detection of chemical stimulus involved in sensory perception	IEA
GO:0050911	Process	Detection of chemical stimulus involved in sensory perception of smell	IBA
GO:0050911	Process	Detection of chemical stimulus involved in sensory perception of smell	IEA

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: O95371
• Protein name: Olfactory receptor 2C1 (OLFmf3) (Olfactory receptor 2C2) (Olfactory receptor OR16-1) (Olfactory receptor OR16-2)
• Protein function: Olfactory receptor that is activated by the binding of organosulfur odorants with thioether groups such as (methylthio)methanetiol (MTMT) (By similarity). Also binds odorants acetophenone and benzaldehyde (By similarity). The activity of this re
• Family and domains:

  Pfam

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

• Sequence:

  MDGVNDSSLQGFVLMGISDHPQLEMIFFIAILFSYLLTLLGNSTIILLSRLEARLHTPMY
  FFLSNLSSLDLAFATSSVPQMLINLWGPGKTISYGGCITQLYVFLWLGATECILLVVMAF
  DRYVAVCRPLRYTAIMNPQLCWLLAVIACLGGLGNSVIQSTFTLQLPLCGHRRVEGFLCE
  VPAMIKLACGDTSLNQAVLNGVCTFFTAVPLSIIVISYCLIAQAVLKIRSAEGRRKAFNT
  CLSHLLVVFLFYGSASYGYLLPAKNSKQDQGKFISLFYSLVTPMVNPLIYTLRNMEVKGA
  LRRLLGKGREVG

• 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
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations