OR2C1

Summary

OR2C1 (olfactory receptor family 2 subfamily C member 1, HGNC:8242) is a protein-coding gene on chromosome 16p13.3, encoding Olfactory receptor 2C1 (O95371). Olfactory receptor that is activated by the binding of organosulfur odorants with thioether groups such as (methylthio)methanetiol (MTMT).

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 single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome.

Source: NCBI Gene 4993 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 45 total
• MANE Select transcript: NM_012368

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8242
Approved symbol	OR2C1
Name	olfactory receptor family 2 subfamily C member 1
Location	16p13.3
Locus type	gene with protein product
Status	Approved
Aliases	OLFmf3
Ensembl gene	ENSG00000168158
Ensembl biotype	protein_coding
Entrez	4993

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000304936

RefSeq mRNA: 1 — MANE Select: NM_012368 NM_012368

CCDS: CCDS10502

Canonical transcript exons

ENST00000304936 — 1 exons

Exon	Start	End
ENSE00001160302	3355889	3357306

Expression profiles

Bgee: expression breadth broad, 34 present calls, max score 67.33.

Top tissues by expression

215 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
tibialis anterior	UBERON:0001385	67.33	silver quality
pancreatic ductal cell	CL:0002079	64.05	silver quality
ileal mucosa	UBERON:0000331	59.76	gold quality
buccal mucosa cell	CL:0002336	57.04	gold quality
deltoid	UBERON:0001476	56.67	silver quality
decidua	UBERON:0002450	56.55	gold quality
hair follicle	UBERON:0002073	52.43	gold quality
epithelial cell of pancreas	CL:0000083	51.90	gold quality
quadriceps femoris	UBERON:0001377	49.59	gold quality
Brodmann (1909) area 46	UBERON:0006483	49.30	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
olfactory bulb	UBERON:0002264	48.92	gold quality
myocardium	UBERON:0002349	48.87	gold quality
type B pancreatic cell	CL:0000169	48.83	gold quality
cardiac muscle of right atrium	UBERON:0003379	48.55	gold quality
CA1 field of hippocampus	UBERON:0003881	48.50	gold quality
ventricular zone	UBERON:0003053	48.45	gold quality
cervix epithelium	UBERON:0004801	48.40	gold quality
vastus lateralis	UBERON:0001379	48.25	gold quality
left ventricle myocardium	UBERON:0006566	48.24	gold quality
orbitofrontal cortex	UBERON:0004167	48.20	gold quality
oviduct epithelium	UBERON:0004804	48.19	gold quality
upper arm skin	UBERON:0004263	48.06	gold quality
tongue squamous epithelium	UBERON:0006919	47.92	gold quality
cortical plate	UBERON:0005343	47.82	silver quality
mucosa of urinary bladder	UBERON:0001259	47.80	gold quality
metanephric glomerulus	UBERON:0004736	47.45	gold quality
thymus	UBERON:0002370	47.42	gold quality
kidney epithelium	UBERON:0004819	47.39	gold quality
nephron tubule	UBERON:0001231	47.30	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.30

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or2c1	ENSMUSG00000059043
rattus_norvegicus	Or2c1	ENSRNOG00000091036

Paralogs (92): OR2B6 (ENSG00000124657), OR13C9 (ENSG00000136839), OR13C4 (ENSG00000148136), OR2M5 (ENSG00000162727), OR10A5 (ENSG00000166363), OR2D2 (ENSG00000166368), OR2B2 (ENSG00000168131), OR13J1 (ENSG00000168828), OR10G3 (ENSG00000169208), OR10A3 (ENSG00000170683), OR10A4 (ENSG00000170782), OR10A2 (ENSG00000170790), OR13H1 (ENSG00000171054), OR2K2 (ENSG00000171133), OR2M4 (ENSG00000171180), OR10H2 (ENSG00000171942), OR10H5 (ENSG00000172519), OR10AD1 (ENSG00000172640), OR2Y1 (ENSG00000174339), OR10AG1 (ENSG00000174970), OR2T1 (ENSG00000175143), OR10P1 (ENSG00000175398), OR2T35 (ENSG00000177151), OR2M7 (ENSG00000177186), OR2T12 (ENSG00000177201), OR2T33 (ENSG00000177212), OR2AJ1 (ENSG00000177275), OR2T8 (ENSG00000177462), OR2G3 (ENSG00000177476), OR2G2 (ENSG00000177489), OR2B11 (ENSG00000177535), OR2D3 (ENSG00000178358), OR13D1 (ENSG00000179055), OR10A7 (ENSG00000179919), OR2Z1 (ENSG00000181733), OR2V2 (ENSG00000182613), OR10G7 (ENSG00000182634), OR2T29 (ENSG00000182783), OR2T34 (ENSG00000183310), OR2T10 (ENSG00000184022)

Protein

Protein identifiers

Olfactory receptor 2C1 — O95371 (reviewed: O95371)

Alternative names: OLFmf3, Olfactory receptor 2C2, Olfactory receptor OR16-1, Olfactory receptor OR16-2

All UniProt accessions (1): O95371

UniProt curated annotations — full annotation on UniProt →

Function. Olfactory receptor that is activated by the binding of organosulfur odorants with thioether groups such as (methylthio)methanetiol (MTMT). Also binds odorants acetophenone and benzaldehyde. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. May be involved in the molecular processes underlying fasciculation and targeting of olfactory axons.

Subcellular location. Cell membrane.

Similarity. Belongs to the G-protein coupled receptor 1 family.

RefSeq proteins (1): NP_036500* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain

Pfam: PF13853

UniProt features (21 total): topological domain 8, transmembrane region 7, sequence variant 3, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95371-F1	82.69	0.42

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (1): 97–189

Glycosylation sites (1): 5

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-381753	Olfactory Signaling Pathway
R-HSA-9752946	Expression and translocation of olfactory receptors

MSigDB gene sets: 51 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, FERREIRA_EWINGS_SARCOMA_UNSTABLE_VS_STABLE_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, LEE_AGING_CEREBELLUM_UP, TGGAAA_NFAT_Q4_01, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, MOREAUX_MULTIPLE_MYELOMA_BY_TACI_UP, GOMF_ODORANT_BINDING, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, MIKKELSEN_ES_ICP_WITH_H3K4ME3

GO Biological Process (5): detection of chemical stimulus involved in sensory perception of smell (GO:0050911), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608), detection of chemical stimulus involved in sensory perception (GO:0050907)

GO Molecular Function (3): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984), odorant binding (GO:0005549)

GO Cellular Component (3): plasma membrane (GO:0005886), cell cortex (GO:0005938), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Sensory Perception	1
Olfactory Signaling Pathway	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
sensory perception of chemical stimulus	2
transmembrane signaling receptor activity	2
cell periphery	2
sensory perception of smell	1
detection of chemical stimulus involved in sensory perception	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
G protein-coupled receptor activity	1
signal transduction	1
sensory perception	1
detection of chemical stimulus	1
detection of stimulus involved in sensory perception	1
G protein-coupled receptor signaling pathway	1
detection of chemical stimulus involved in sensory perception of smell	1
binding	1
membrane	1
cytoplasm	1
cellular anatomical structure	1

Protein interactions and networks

STRING

770 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2C1	LITAFD	A0A1B0GVX0	623
OR2C1	RCBTB1	Q8NDN9	460
OR2C1	OR51G1	Q8NGK1	443
OR2C1	CDIP1	Q9H305	440
OR2C1	H3BQ15	H3BQ15	433
OR2C1	AMDHD2	Q9Y303	423
OR2C1	OR2L13	Q8N349	412
OR2C1	OR51G2	Q8NGK0	411
OR2C1	OR4X1	Q8NH49	407
OR2C1	TAS2R60	P59551	406
OR2C1	OR4M1	Q8NGD0	403
OR2C1	OR1J2	Q8NGS2	400
OR2C1	OR52B2	Q96RD2	396
OR2C1	NAA30	Q147X3	392
OR2C1	CARHSP1	Q9Y2V2	371

IntAct

0 interactions, top by confidence:

BioGRID (1): OR2C1 (Negative Genetic)

ESM2 similar proteins: A0A2R8YED5, A6NM03, O14581, O60412, O76099, O95006, O95047, O95371, P34982, P34984, P47884, P58170, Q15619, Q15622, Q5TZ20, Q60883, Q60887, Q60891, Q6IFH4, Q7Z3T1, Q8N628, Q8NG84, Q8NG95, Q8NG98, Q8NG99, Q8NGA0, Q8NGA1, Q8NGA2, Q8NGQ5, Q8NGR9, Q8NGS1, Q8NGS2, Q8NGS3, Q8NGV0, Q8NGW1, Q8NGX1, Q8NH06, Q8NH80, Q8NHA4, Q95157

Diamond homologs: A3KFT3, A4D2G3, A6NH00, A6NL26, A6NM03, O43869, O76000, O76001, O76002, O95006, O95221, O95371, O95918, P0C7N1, P0C7T2, P23274, P23275, P34984, P59922, Q13606, Q13607, Q5TZ20, Q60880, Q60890, Q6IEZ7, Q6IF00, Q8N127, Q8N349, Q8N628, Q8NG75, Q8NG76, Q8NG77, Q8NG80, Q8NG81, Q8NG83, Q8NG84, Q8NG85, Q8NG97, Q8NGC0, Q8NGE5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

45 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	43
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

306 predictions. Top by Δscore:

Variant	Effect	Δscore
16:3356571:C:CG	donor_gain	0.8500
16:3356779:T:A	acceptor_gain	0.8400
16:3356826:G:GT	donor_gain	0.8400
16:3356752:G:T	donor_gain	0.7400
16:3356791:T:TA	acceptor_gain	0.7400
16:3356863:G:GT	donor_gain	0.7400
16:3356846:G:GT	donor_gain	0.7300
16:3356564:A:AG	acceptor_gain	0.7200
16:3356565:G:GG	acceptor_gain	0.7200
16:3356571:C:G	donor_gain	0.7100
16:3356696:T:G	acceptor_gain	0.7000
16:3356677:T:A	acceptor_gain	0.6800
16:3356695:AT:A	acceptor_gain	0.6600
16:3356751:G:GT	donor_gain	0.6500
16:3356611:C:T	donor_gain	0.6200
16:3356708:C:G	donor_gain	0.6200
16:3356638:G:T	donor_gain	0.6100
16:3356696:T:TA	acceptor_gain	0.6000
16:3356826:G:T	donor_gain	0.6000
16:3356943:T:TA	acceptor_gain	0.6000
16:3356656:A:AG	donor_gain	0.5900
16:3356718:C:G	donor_gain	0.5900
16:3356944:G:A	acceptor_gain	0.5700
16:3356681:G:GG	donor_gain	0.5600
16:3356682:G:GG	donor_gain	0.5600
16:3356745:G:GT	donor_gain	0.5600
16:3356859:A:T	donor_gain	0.5600
16:3356529:G:GT	donor_gain	0.5400
16:3356790:AT:A	acceptor_gain	0.5300
16:3356829:G:GG	donor_gain	0.5200

AlphaMissense

2014 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:3355974:T:C	F12L	0.925
16:3355976:T:A	F12L	0.925
16:3355976:T:G	F12L	0.925
16:3356469:T:C	F177L	0.890
16:3356471:C:A	F177L	0.890
16:3356471:C:G	F177L	0.890
16:3356691:T:C	F251L	0.874
16:3356693:C:A	F251L	0.874
16:3356693:C:G	F251L	0.874
16:3356574:A:C	S212R	0.868
16:3356576:C:A	S212R	0.868
16:3356576:C:G	S212R	0.868
16:3356166:A:C	S76R	0.852
16:3356168:T:A	S76R	0.852
16:3356168:T:G	S76R	0.852
16:3356250:T:C	F104L	0.848
16:3356252:C:A	F104L	0.848
16:3356252:C:G	F104L	0.848
16:3356157:T:C	F73L	0.834
16:3356159:C:A	F73L	0.834
16:3356159:C:G	F73L	0.834
16:3356294:G:A	M118I	0.833
16:3356294:G:C	M118I	0.833
16:3356294:G:T	M118I	0.833
16:3356305:G:C	R122P	0.831
16:3356121:T:C	F61L	0.829
16:3356123:C:A	F61L	0.829
16:3356123:C:G	F61L	0.829
16:3356124:T:C	F62L	0.817
16:3356126:C:A	F62L	0.817

dbSNP variants (sampled 300 via entrez): RS1000049602 (16:3338604 C>G), RS1000093859 (16:3340191 A>C), RS1000109638 (16:3338789 G>A), RS1000157817 (16:3335257 A>G), RS1000298536 (16:3354498 C>T), RS1000391810 (16:3345111 C>G), RS1000407948 (16:3328207 T>C), RS1000414182 (16:3356909 T>C,G), RS1000525551 (16:3328825 C>T), RS1000594689 (16:3331420 G>T), RS1000734700 (16:3322157 T>A,C), RS1000740959 (16:3324707 C>G,T), RS1000860031 (16:3358070 C>T), RS1001041978 (16:3336675 T>C), RS1001232917 (16:3344878 T>C)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST004735_12	Epstein-Barr virus copy number in lymphoblastoid cell lines	2.000000e-07

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation	1
hydroquinone	decreases expression	1
2-palmitoylglycerol	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Catechin	affects cotreatment, decreases expression	1
Valproic Acid	increases methylation	1
Asbestos, Crocidolite	affects expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.