OR6C3

Summary

OR6C3 (olfactory receptor family 6 subfamily C member 3, HGNC:15437) is a protein-coding gene on chromosome 12q13.2, encoding Olfactory receptor 6C3 (Q9NZP0). 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 254786 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 74 total
• MANE Select transcript: NM_001388498

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15437
Approved symbol	OR6C3
Name	olfactory receptor family 6 subfamily C member 3
Location	12q13.2
Locus type	gene with protein product
Status	Approved
Aliases	OST709
Ensembl gene	ENSG00000205329
Ensembl biotype	protein_coding
Entrez	254786

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000641364, ENST00000641740

RefSeq mRNA: 2 — MANE Select: NM_001388498 NM_001388498, NM_054104

CCDS: CCDS31819

Canonical transcript exons

ENST00000641740 — 2 exons

Exon	Start	End
ENSE00001482050	55331657	55332636
ENSE00003812666	55330746	55330807

Expression profiles

Bgee: expression breadth tissue_specific, 2 present calls, max score 67.77.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	67.77	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
right coronary artery	UBERON:0001625	36.48	silver quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
monocyte	CL:0000576	28.50	silver quality
leukocyte	CL:0000738	28.42	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	27.69	silver quality
lymph node	UBERON:0000029	27.57	gold quality
endocervix	UBERON:0000458	27.12	gold quality
tonsil	UBERON:0002372	27.05	gold quality
blood	UBERON:0000178	26.70	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
placenta	UBERON:0001987	25.81	gold quality
fundus of stomach	UBERON:0001160	25.44	silver quality
calcaneal tendon	UBERON:0003701	25.01	gold quality
muscle of leg	UBERON:0001383	25.00	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.46

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or6c3	ENSMUSG00000049217
rattus_norvegicus	Or6c3d	ENSRNOG00000085412
rattus_norvegicus	Or6c3	ENSRNOG00000086915

Paralogs (18): OR6F1 (ENSG00000169214), OR2AP1 (ENSG00000179615), OR6C4 (ENSG00000179626), OR6C2 (ENSG00000179695), OR6T1 (ENSG00000181499), OR6S1 (ENSG00000181803), OR6C70 (ENSG00000184954), OR6C76 (ENSG00000185821), OR6C75 (ENSG00000187857), OR6C6 (ENSG00000188324), OR6M1 (ENSG00000196099), OR6C74 (ENSG00000197706), OR6C68 (ENSG00000205327), OR6C65 (ENSG00000205328), OR6C1 (ENSG00000205330), OR6X1 (ENSG00000221931), OR6V1 (ENSG00000225781), OR6J1 (ENSG00000255804)

Protein

Protein identifiers

Olfactory receptor 6C3 — Q9NZP0 (reviewed: Q9NZP0)

Alternative names: HSA8

All UniProt accessions (2): A0A126GW44, Q9NZP0

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 (2): NP_001375427, NP_473445 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR047132	Olfact_rcpt_6C-like	Family

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-Q9NZP0-F1	91.23	0.76

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): 94–186

Glycosylation sites (1): 2

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 25 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, WTGAAAT_UNKNOWN, KEGG_OLFACTORY_TRANSDUCTION, TATA_C, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, TGGAAA_NFAT_Q4_01, 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, CTTTAAR_UNKNOWN, WP_GPCRS_OTHER

GO Biological Process (4): sensory perception of smell (GO:0007608), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), detection of chemical stimulus involved in sensory perception of smell (GO:0050911)

GO Molecular Function (2): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984)

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
sensory perception of chemical stimulus	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 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
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

250 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR6C3	STAG2	Q8N3U4	581
OR6C3	POTEB2	H3BUK9	480
OR6C3	A0A0G2JMU2	A0A0G2JMU2	445
OR6C3	POTEB3	A0JP26	434
OR6C3	CYP2S1	Q96SQ9	429
OR6C3	UBL4B	Q8N7F7	395
OR6C3	ALB	P02768	369
OR6C3	POTEC	B2RU33	325
OR6C3	PRMT2IP	Q6ZRI6	324
OR6C3	AGPAT5	Q9NUQ2	311
OR6C3	ARSF	P54793	291
OR6C3	CENPS	Q8N2Z9	267
OR6C3	AP3M1	Q9Y2T2	262
OR6C3	AP3M2	P53677	256
OR6C3	LONRF1	Q17RB8	253

IntAct

0 interactions, top by confidence:

BioGRID (1): OR6C3 (Affinity Capture-MS)

ESM2 similar proteins: A6NCV1, A6NF89, A6NJZ3, A6NL08, A6NM76, O95221, P0C7N1, P0C7N5, P37070, P37071, P37072, Q15617, Q60886, Q6IEU7, Q8N127, Q8NGE1, Q8NGG0, Q8NGG8, Q8NGP8, Q8NGP9, Q8NGR8, Q8NGS9, Q8NGT0, Q8NGT1, Q8NGX3, Q8NH01, Q8NH10, Q8NH51, Q8NH69, Q8VEW5, Q8VF65, Q8VF66, Q8VF76, Q8VFD0, Q8VFD3, Q8VFK2, Q8VG02, Q8VG03, Q8VG04, Q8VG07

Diamond homologs: A6NCV1, A6NDL8, A6NF89, A6NIJ9, A6NJZ3, A6NL08, A6NL26, A6NM76, O76001, O76002, O76100, O95007, P0C623, P0C626, P23266, P23267, P23272, P23274, P30953, P30955, P34985, P58173, P59922, P70526, Q13606, Q5TZ20, Q60882, Q60890, Q6UXT6, Q7TQQ0, Q7Z3T1, Q8N146, Q8N148, Q8N162, Q8N628, Q8NGA1, Q8NGC5, Q8NGE1, Q8NGE2, Q8NGE5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	70
Likely benign	2
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

294 predictions. Top by Δscore:

Variant	Effect	Δscore
12:55331724:G:GG	donor_gain	0.6900
12:55331763:GATT:G	donor_gain	0.6900
12:55332347:T:G	acceptor_gain	0.6700
12:55331717:TCACA:T	donor_gain	0.6600
12:55331722:GA:G	donor_gain	0.6600
12:55331955:GAA:G	donor_gain	0.6600
12:55331723:A:AG	donor_gain	0.6300
12:55331864:C:G	donor_gain	0.6200
12:55332277:GAA:G	donor_gain	0.6200
12:55332425:T:G	acceptor_gain	0.6200
12:55331764:A:G	donor_gain	0.6100
12:55332143:G:GG	donor_gain	0.6000
12:55332447:T:TA	acceptor_gain	0.6000
12:55332106:A:T	donor_gain	0.5900
12:55332446:AT:A	acceptor_gain	0.5900
12:55332447:T:G	acceptor_gain	0.5900
12:55331718:CACAG:C	donor_gain	0.5800
12:55331719:ACAGA:A	donor_gain	0.5800
12:55331800:T:TG	donor_gain	0.5800
12:55332139:C:G	donor_gain	0.5800
12:55332185:AGCTG:A	acceptor_gain	0.5800
12:55332186:GCTGG:G	acceptor_gain	0.5800
12:55331770:A:AG	donor_gain	0.5700
12:55331771:T:G	donor_gain	0.5700
12:55331864:C:CG	donor_gain	0.5700
12:55332138:GC:G	donor_gain	0.5600
12:55332142:A:G	donor_gain	0.5400
12:55332185:A:AG	acceptor_gain	0.5400
12:55332186:G:GG	acceptor_gain	0.5400
12:55332449:G:GT	donor_gain	0.5400

AlphaMissense

2051 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:55331803:A:C	S35R	0.943
12:55331805:T:A	S35R	0.943
12:55331805:T:G	S35R	0.943
12:55332451:A:C	S251R	0.931
12:55332453:C:A	S251R	0.931
12:55332453:C:G	S251R	0.931
12:55331725:T:C	F9L	0.923
12:55331727:T:A	F9L	0.923
12:55331727:T:G	F9L	0.923
12:55332220:T:C	F174L	0.915
12:55332222:T:A	F174L	0.915
12:55332222:T:G	F174L	0.915
12:55332056:G:C	R119P	0.912
12:55332025:T:C	F109L	0.905
12:55332027:T:A	F109L	0.905
12:55332027:T:G	F109L	0.905
12:55332403:T:C	F235L	0.878
12:55332405:C:A	F235L	0.878
12:55332405:C:G	F235L	0.878
12:55332136:T:A	W146R	0.856
12:55332136:T:C	W146R	0.856
12:55331817:C:A	N39K	0.853
12:55331817:C:G	N39K	0.853
12:55332064:G:C	A122P	0.851
12:55331900:A:T	E67V	0.839
12:55332045:G:A	M115I	0.835
12:55332045:G:C	M115I	0.835
12:55332045:G:T	M115I	0.835
12:55331908:T:C	F70L	0.830
12:55331910:T:A	F70L	0.830

dbSNP variants (sampled 300 via entrez): RS1000303231 (12:55330090 G>C), RS1000458288 (12:55331354 A>G), RS1001020418 (12:55332496 T>C), RS1001180299 (12:55330929 G>A), RS1001400638 (12:55330722 T>C), RS1001902116 (12:55330712 G>A), RS1002767616 (12:55332094 A>G), RS1002855534 (12:55329642 G>A), RS1002883859 (12:55331887 T>C,G), RS1003074309 (12:55329297 A>G), RS1003702753 (12:55328177 C>A), RS1004201770 (12:55329873 C>G), RS1005252509 (12:55331312 TG>T), RS1005278569 (12:55330739 G>A,C), RS1006710826 (12:55331613 A>C,G,T)

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

2 associations (top):

Study	Trait	p-value
GCST002238_5	Contrast sensitivity	5.000000e-06
GCST010002_217	Refractive error	6.000000e-174

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005419	contrast sensitivity measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation	1

Clinical trials (associated diseases)

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