OR2I1 (olfactory receptor family 2 subfamily I member 1 (gene/pseudogene))

Gene

• Entrez ID: 442197
• Gene name: Olfactory receptor family 2 subfamily I member 1 (gene/pseudogene)
• Gene symbol: OR2I1
• Synonyms (NCBI Gene): HS6M1-14, OR2I1P, OR2I2, OR2I3P, OR2I4P, OR2I5P, OR2I6, OR2I7P, OR2I8P, OR2I9P, OR6-1, OR6-34
• Chromosome: 6
• Chromosome location: 6p22.1

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:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	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:0050911	Process	Detection of chemical stimulus involved in sensory perception of smell	IBA

Other IDs

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

Protein

• UniProt ID: Q8NGU4
• Protein name: Putative olfactory receptor 2I1 (Putative olfactory receptor 2I2) (Putative olfactory receptor 2I3) (Putative olfactory receptor 2I4)
• Protein function: Odorant receptor.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13853	7tm_4	31 → 308	Olfactory receptor	Family

• Sequence:

  MLANQASAEERFLLLGFSDWPSLQPVLFALVLLCYLLTLTGNSALVLLAVRDPRLHTPMY
  YFLCHLALVDAGFTTSVVPPLLANLRGPALWLPRSHCTAQLCASLALGSAECVLLAVMAL
  DRAAAVCRPLRYAGLVSPRLCRTLASASWLSGLTNSVAQTALLAERPLCAPRLLDHFICE
  LPALLKLACGGDGDTTENQMFAARVVILLLPFAVILASYGAVARAVCCMRFSGGRRRAVG
  TCGSHLTAVCLFYGSAIYTYLQPAQRYNQARGKFVSLFYTVVTPALNPLIYTLRNKKVKG
  AARRLLRSLGRGQAGQ

• Sequence length: 316

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
ANTI-GAD65 AUTOIMMUNE NEUROLOGICAL SYNDROMES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations