OR6C2

Summary

OR6C2 (olfactory receptor family 6 subfamily C member 2, HGNC:15436) is a protein-coding gene on chromosome 12q13.2, encoding Olfactory receptor 6C2 (Q9NZP2). 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 341416 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 59 total
• MANE Select transcript: NM_054105

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15436
Approved symbol	OR6C2
Name	olfactory receptor family 6 subfamily C member 2
Location	12q13.2
Locus type	gene with protein product
Status	Approved
Aliases	OR6C67
Ensembl gene	ENSG00000179695
Ensembl biotype	protein_coding
Entrez	341416

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000641202, ENST00000641516

RefSeq mRNA: 1 — MANE Select: NM_054105 NM_054105

CCDS: CCDS31824

Canonical transcript exons

ENST00000641202 — 2 exons

Exon	Start	End
ENSE00003813280	55451327	55453347
ENSE00003813614	55444076	55444159

Expression profiles

Bgee: expression breadth not_expressed, 0 present calls, max score 37.44.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	37.44	silver quality
colonic epithelium	UBERON:0000397	37.20	gold 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
granulocyte	CL:0000094	35.73	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
bone marrow	UBERON:0002371	32.93	gold quality
leukocyte	CL:0000738	32.71	gold quality
monocyte	CL:0000576	32.63	gold quality
tonsil	UBERON:0002372	32.24	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
right uterine tube	UBERON:0001302	29.12	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
lymph node	UBERON:0000029	28.83	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality
urinary bladder	UBERON:0001255	27.81	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
esophagus mucosa	UBERON:0002469	26.20	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
muscle of leg	UBERON:0001383	25.26	gold quality
calcaneal tendon	UBERON:0003701	24.82	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.30

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or6c2	ENSMUSG00000047626
rattus_norvegicus	Or6c2	ENSRNOG00000091051

Paralogs (18): OR6F1 (ENSG00000169214), OR2AP1 (ENSG00000179615), OR6C4 (ENSG00000179626), OR6T1 (ENSG00000181499), OR6S1 (ENSG00000181803), OR6C70 (ENSG00000184954), OR6C76 (ENSG00000185821), OR6C75 (ENSG00000187857), OR6C6 (ENSG00000188324), OR6M1 (ENSG00000196099), OR6C74 (ENSG00000197706), OR6C68 (ENSG00000205327), OR6C65 (ENSG00000205328), OR6C3 (ENSG00000205329), OR6C1 (ENSG00000205330), OR6X1 (ENSG00000221931), OR6V1 (ENSG00000225781), OR6J1 (ENSG00000255804)

Protein

Protein identifiers

Olfactory receptor 6C2 — Q9NZP2 (reviewed: Q9NZP2)

Alternative names: HSA3

All UniProt accessions (2): Q9NZP2, A0A126GW05

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_473446* (*=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, glycosylation site 2, sequence variant 2, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NZP2-F1	90.24	0.73

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): 95–187

Glycosylation sites (2): 3, 82

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 18 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, 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, RAO_BOUND_BY_SALL4_ISOFORM_A, WP_GPCRS_OTHER, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS

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

318 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR6C2	STAG2	Q8N3U4	695
OR6C2	ASB12	Q8WXK4	441
OR6C2	ZDHHC15	Q96MV8	418
OR6C2	ALB	P02768	386
OR6C2	PLSCR1	O15162	349
OR6C2	PLSCR4	Q9NRQ2	349
OR6C2	PLSCR5	A0PG75	349
OR6C2	CRELD1	Q96HD1	324
OR6C2	ERICH6	Q7L0X2	314
OR6C2	DEFB105A	Q8NG35	311
OR6C2	EFCAB5	A4FU69	298
OR6C2	AADACL3	Q5VUY0	296
OR6C2	RIPOR3	Q96MK2	283
OR6C2	PBDC1	Q9BVG4	280
OR6C2	CYP27C1	Q4G0S4	272

IntAct

0 interactions, top by confidence:

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	58
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

274 predictions. Top by Δscore:

Variant	Effect	Δscore
12:55452277:C:T	donor_gain	0.8500
12:55452870:A:AG	acceptor_gain	0.7000
12:55452871:G:GG	acceptor_gain	0.7000
12:55452841:GTTT:G	acceptor_gain	0.6600
12:55452232:A:AG	donor_gain	0.6500
12:55452869:T:G	acceptor_gain	0.6300
12:55452941:T:G	acceptor_gain	0.6300
12:55452871:GTCA:G	acceptor_gain	0.6200
12:55452940:AT:A	acceptor_gain	0.6100
12:55452229:G:GG	donor_gain	0.6000
12:55452228:A:AG	donor_gain	0.5900
12:55452281:T:G	donor_gain	0.5800
12:55452963:T:TA	acceptor_gain	0.5800
12:55452623:GG:G	donor_gain	0.5600
12:55452624:GG:G	donor_gain	0.5600
12:55452902:A:AG	acceptor_gain	0.5500
12:55452903:G:GG	acceptor_gain	0.5500
12:55452947:T:TA	acceptor_gain	0.5500
12:55452556:GCCAT:G	acceptor_gain	0.5400
12:55452840:A:AG	acceptor_gain	0.5400
12:55452841:G:GG	acceptor_gain	0.5400
12:55452867:C:G	acceptor_gain	0.5400
12:55452903:GCAAA:G	acceptor_gain	0.5300
12:55453083:G:GC	acceptor_gain	0.5200
12:55452555:A:AG	acceptor_gain	0.5100
12:55452556:G:GG	acceptor_gain	0.5100
12:55452316:T:G	donor_gain	0.5000
12:55452962:AT:A	acceptor_gain	0.5000
12:55452380:C:G	donor_gain	0.4900
12:55452963:T:G	acceptor_gain	0.4900

AlphaMissense

2056 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:55452967:A:C	S252R	0.964
12:55452969:C:A	S252R	0.964
12:55452969:C:G	S252R	0.964
12:55452709:T:C	F166L	0.963
12:55452711:C:A	F166L	0.963
12:55452711:C:G	F166L	0.963
12:55452319:A:C	S36R	0.948
12:55452321:T:A	S36R	0.948
12:55452321:T:G	S36R	0.948
12:55452736:T:C	F175L	0.944
12:55452738:T:A	F175L	0.944
12:55452738:T:G	F175L	0.944
12:55452572:G:C	R120P	0.942
12:55452241:T:C	F10L	0.939
12:55452243:T:A	F10L	0.939
12:55452243:T:G	F10L	0.939
12:55452541:T:C	F110L	0.933
12:55452543:T:A	F110L	0.933
12:55452543:T:G	F110L	0.933
12:55453065:C:A	N284K	0.912
12:55453065:C:G	N284K	0.912
12:55452333:C:A	N40K	0.906
12:55452333:C:G	N40K	0.906
12:55452561:G:A	M116I	0.905
12:55452561:G:C	M116I	0.905
12:55452561:G:T	M116I	0.905
12:55452569:A:C	D119A	0.900
12:55453086:G:C	R291S	0.900
12:55453086:G:T	R291S	0.900
12:55452652:T:A	W147R	0.897

dbSNP variants (sampled 300 via entrez): RS1000286454 (12:55449164 C>T), RS1000333280 (12:55452158 C>A,T), RS1000513460 (12:55443318 C>T), RS1001247169 (12:55451303 C>G,T), RS1001360264 (12:55448681 G>A,T), RS1001795950 (12:55449702 A>C), RS1002080040 (12:55449935 T>A,C), RS1002507789 (12:55444708 A>G), RS1002687715 (12:55451181 T>C), RS1003704953 (12:55451616 T>C), RS1003741561 (12:55446133 T>TTCCC), RS1003844591 (12:55446455 T>A), RS1003922799 (12:55445916 T>C), RS1004065850 (12:55442535 C>A,T), RS1004082895 (12:55448742 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

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

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

Chemical	Actions (top 5)	PubMed papers
hydroxyhydroquinone	increases expression	1
Malathion	decreases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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