OR7C2

Summary

OR7C2 (olfactory receptor family 7 subfamily C member 2, HGNC:8374) is a protein-coding gene on chromosome 19p13.12, encoding Olfactory receptor 7C2 (O60412). Odorant receptor.

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 26658 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 43 total
• MANE Select transcript: NM_012377

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8374
Approved symbol	OR7C2
Name	olfactory receptor family 7 subfamily C member 2
Location	19p13.12
Locus type	gene with protein product
Status	Approved
Aliases	OR19-18
Ensembl gene	ENSG00000127529
Ensembl biotype	protein_coding
Entrez	26658

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000248072

RefSeq mRNA: 1 — MANE Select: NM_012377 NM_012377

CCDS: CCDS12320

Canonical transcript exons

ENST00000248072 — 1 exons

Exon	Start	End
ENSE00000873246	14941489	14942448

Expression profiles

Bgee: expression breadth tissue_specific, 1 present calls, max score 58.27.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
parotid gland	UBERON:0001831	58.27	gold quality
cerebellar vermis	UBERON:0004720	57.62	gold quality
sperm	CL:0000019	57.00	gold quality
vena cava	UBERON:0004087	54.18	gold quality
endothelial cell	CL:0000115	54.10	gold quality
nasal cavity epithelium	UBERON:0005384	51.08	gold quality
mammalian vulva	UBERON:0000997	46.55	gold quality
synovial joint	UBERON:0002217	44.50	gold quality
deltoid	UBERON:0001476	44.04	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
sural nerve	UBERON:0015488	43.30	silver quality
cardia of stomach	UBERON:0001162	43.26	gold quality
pylorus	UBERON:0001166	43.07	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
body of tongue	UBERON:0011876	42.56	gold quality
vastus lateralis	UBERON:0001379	41.41	gold quality
quadriceps femoris	UBERON:0001377	41.37	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
mucosa of paranasal sinus	UBERON:0005030	40.98	gold quality
subthalamic nucleus	UBERON:0001906	40.96	gold quality
dorsal plus ventral thalamus	UBERON:0001897	40.85	gold quality
tongue	UBERON:0001723	40.71	gold quality
amniotic fluid	UBERON:0000173	40.69	gold quality
jejunal mucosa	UBERON:0000399	40.59	gold quality
biceps brachii	UBERON:0001507	40.57	gold quality
epithelium of nasopharynx	UBERON:0001951	40.45	gold quality
myocardium	UBERON:0002349	40.45	gold quality
gingival epithelium	UBERON:0001949	40.43	gold quality
germinal epithelium of ovary	UBERON:0001304	40.33	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.00

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• Analysis of indel variations in the human disease-associated genes CDKN2AIP, WDR66, USP20 and OR7C2 in a Korean population. (PMID:22552337)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or7c70	ENSMUSG00000051190
rattus_norvegicus	Or7c70	ENSRNOG00000073768

Paralogs (130): OR1I1 (ENSG00000094661), OR12D3 (ENSG00000112462), OR7A10 (ENSG00000127515), OR7C1 (ENSG00000127530), OR1E2 (ENSG00000127780), OR1J1 (ENSG00000136834), OR1L4 (ENSG00000136939), OR4D1 (ENSG00000141194), OR4K1 (ENSG00000155249), OR3A3 (ENSG00000159961), OR7G1 (ENSG00000161807), OR1Q1 (ENSG00000165202), OR1K1 (ENSG00000165204), OR4K2 (ENSG00000165762), OR4D6 (ENSG00000166884), OR1F1 (ENSG00000168124), OR4K14 (ENSG00000169484), OR4K15 (ENSG00000169488), OR7G3 (ENSG00000170920), OR7G2 (ENSG00000170923), OR1M1 (ENSG00000170929), OR4D5 (ENSG00000171014), OR1L6 (ENSG00000171459), OR1L3 (ENSG00000171481), OR1L8 (ENSG00000171496), OR1N2 (ENSG00000171501), OR1N1 (ENSG00000171505), OR2AT4 (ENSG00000171561), OR1A1 (ENSG00000172146), OR1A2 (ENSG00000172150), OR4C11 (ENSG00000172188), OR4X2 (ENSG00000172208), OR4D9 (ENSG00000172742), OR10K1 (ENSG00000173285), OR1L1 (ENSG00000173679), OR7D4 (ENSG00000174667), OR4S2 (ENSG00000174982), OR4B1 (ENSG00000175619), OR4D11 (ENSG00000176200), OR4K17 (ENSG00000176230)

Protein

Protein identifiers

Olfactory receptor 7C2 — O60412 (reviewed: O60412)

Alternative names: Olfactory receptor 19-18, Olfactory receptor 7C3, Olfactory receptor OR19-22

All UniProt accessions (1): O60412

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor.

Subcellular location. Cell membrane.

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

RefSeq proteins (1): NP_036509* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (25 total): topological domain 8, transmembrane region 7, sequence conflict 5, sequence variant 2, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60412-F1	88.74	0.64

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

1 pathways

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

MSigDB gene sets: 24 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, SHEN_SMARCA2_TARGETS_DN, chr19p13, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, GOBP_SENSORY_PERCEPTION_OF_SMELL, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, PEDRIOLI_MIR31_TARGETS_UP, ZWANG_DOWN_BY_2ND_EGF_PULSE, WP_GPCRS_CLASS_A_RHODOPSINLIKE

GO Biological Process (5): signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of chemical stimulus (GO:0007606), sensory perception of smell (GO:0007608), detection of chemical stimulus involved in sensory perception of smell (GO:0050911)

GO Molecular Function (4): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984), protein binding (GO:0005515), signaling receptor activity (GO:0038023)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Olfactory Signaling Pathway	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transmembrane signaling receptor activity	2
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
sensory perception of chemical stimulus	1
sensory perception of smell	1
detection of chemical 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
molecular transducer activity	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

208 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR7C2	GPR25	O00155	511
OR7C2	MRGPRF	Q96AM1	507
OR7C2	CFAP251	Q8TBY9	477
OR7C2	CDKN2AIP	Q9NXV6	447
OR7C2	TAC4	Q86UU9	445
OR7C2	C1orf167	Q5SNV9	431
OR7C2	PRSS54	Q6PEW0	400
OR7C2	GALR2	O43603	370
OR7C2	USP20	Q9Y2K6	367
OR7C2	CTIF	O43310	301
OR7C2	KCNMB3	Q9NPA1	300
OR7C2	LY6G5C	Q5SRR4	271
OR7C2	CCL23	P55773	269
OR7C2	CASR	P41180	245
OR7C2	GAL	P22466	230

IntAct

9 interactions, top by confidence:

A	B	Type	Score
OR7C2	DYNLL1	psi-mi:“MI:0915”(physical association)	0.560
OR7C2	ECE1	psi-mi:“MI:0915”(physical association)	0.370
ECE1	OR7C2	psi-mi:“MI:0915”(physical association)	0.370
OR7C2	DYNLL1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (2): OR7C2 (Two-hybrid), VTI1B (Cross-Linking-MS (XL-MS))

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: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, O60412, O76099, O95013, P0C604, P0C623, P0C645, P0DN82, P23270, P23275, P58173, P58180, P58182, Q15615, Q60878, Q60881, Q60888, Q6IEV9, Q6IEY1, Q6IF82, Q7TQQ0, Q8IXE1, Q8N0Y3, Q8N628, Q8NGA8, Q8NGB2, Q8NGB4, Q8NGB6, Q8NGB8, Q8NGB9, Q8NGC2, Q8NGC3, Q8NGC4, Q8NGC6, Q8NGD0, Q8NGD1, Q8NGD2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	42
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

390 predictions. Top by Δscore:

Variant	Effect	Δscore
19:14941806:ATTT:A	acceptor_gain	0.9100
19:14941806:A:AG	acceptor_gain	0.9000
19:14941809:T:TA	acceptor_gain	0.8900
19:14941806:ATTTG:A	acceptor_gain	0.8600
19:14941807:T:G	acceptor_gain	0.8400
19:14941810:G:A	acceptor_gain	0.7500
19:14942167:A:G	acceptor_gain	0.7500
19:14941638:T:G	donor_gain	0.7200
19:14942168:GA:G	acceptor_gain	0.6800
19:14941664:T:G	donor_gain	0.6500
19:14942143:TCTCA:T	acceptor_loss	0.6500
19:14942144:CTCAG:C	acceptor_loss	0.6500
19:14942145:TCAG:T	acceptor_loss	0.6500
19:14942146:CAGA:C	acceptor_loss	0.6500
19:14942147:A:T	acceptor_loss	0.6500
19:14942148:G:GC	acceptor_loss	0.6500
19:14942147:A:AG	acceptor_gain	0.6400
19:14942148:G:GG	acceptor_gain	0.6400
19:14942226:G:GA	donor_gain	0.6400
19:14942080:G:GG	donor_gain	0.6100
19:14942142:T:G	acceptor_loss	0.6100
19:14942124:T:TA	acceptor_gain	0.5800
19:14942006:A:T	donor_gain	0.5600
19:14942025:T:TA	acceptor_gain	0.5600
19:14942168:G:C	acceptor_gain	0.5600
19:14941510:G:GT	donor_gain	0.5400
19:14942079:C:CG	donor_gain	0.5400
19:14942027:A:AG	donor_gain	0.5300
19:14942043:G:GT	donor_gain	0.5300
19:14942209:G:GA	donor_gain	0.5300

AlphaMissense

2088 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:14941990:T:C	F168L	0.813
19:14941992:C:A	F168L	0.813
19:14941992:C:G	F168L	0.813
19:14942236:T:C	F250L	0.792
19:14942238:C:A	F250L	0.792
19:14942238:C:G	F250L	0.792
19:14942230:A:C	S248R	0.757
19:14942232:C:A	S248R	0.757
19:14942232:C:G	S248R	0.757
19:14941855:T:C	F123L	0.748
19:14941857:C:A	F123L	0.748
19:14941857:C:G	F123L	0.748
19:14942017:T:C	F177L	0.746
19:14942019:T:A	F177L	0.746
19:14942019:T:G	F177L	0.746
19:14942347:T:C	F287L	0.718
19:14942349:C:A	F287L	0.718
19:14942349:C:G	F287L	0.718
19:14942020:T:C	F178L	0.709
19:14942022:T:A	F178L	0.709
19:14942022:T:G	F178L	0.709
19:14941522:T:C	F12L	0.699
19:14941524:T:A	F12L	0.699
19:14941524:T:G	F12L	0.699
19:14941942:A:C	S152R	0.689
19:14941944:T:A	S152R	0.689
19:14941944:T:G	S152R	0.689
19:14942197:T:C	F237L	0.682
19:14942199:T:A	F237L	0.682
19:14942199:T:G	F237L	0.682

dbSNP variants (sampled 300 via entrez): RS1001173907 (19:14940075 A>AT), RS1001646186 (19:14940367 T>A,C), RS1002580331 (19:14941249 C>T), RS1003173197 (19:14942611 C>A,T), RS1003646990 (19:14940410 G>A), RS1003656138 (19:14942895 G>GC), RS1004001204 (19:14940146 T>A), RS1005152693 (19:14940056 A>G), RS1006010663 (19:14942652 G>A), RS1007156291 (19:14942548 G>A,T), RS1007516658 (19:14942285 C>T), RS1009635243 (19:14941212 A>C,G,T), RS1010022849 (19:14940449 T>C), RS1012489708 (19:14942944 G>A,C), RS1013966279 (19:14939804 A>G)

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
GCST008114_16	Type 2 diabetes	5.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation	1
Camptothecin	decreases response to substance	1
Asbestos, Crocidolite	affects expression	1

Clinical trials (associated diseases)

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