OR6C74

Summary

OR6C74 (olfactory receptor family 6 subfamily C member 74, HGNC:31303) is a protein-coding gene on chromosome 12q13.2, encoding Olfactory receptor 6C74 (A6NCV1). 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 254783 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 42 total
• MANE Select transcript: NM_001005490

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31303
Approved symbol	OR6C74
Name	olfactory receptor family 6 subfamily C member 74
Location	12q13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000197706
Ensembl biotype	protein_coding
Entrez	254783

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000343399

RefSeq mRNA: 1 — MANE Select: NM_001005490 NM_001005490

CCDS: CCDS31816

Canonical transcript exons

ENST00000343399 — 2 exons

Exon	Start	End
ENSE00001390009	55247279	55256625
ENSE00003926909	55244609	55244817

Expression profiles

Bgee: expression breadth not_expressed, 0 present calls, max score 37.23.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	37.23	gold 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
ganglionic eminence	UBERON:0004023	35.49	gold quality
sural nerve	UBERON:0015488	35.42	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
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
leukocyte	CL:0000738	28.82	gold quality
monocyte	CL:0000576	28.31	gold quality
duodenum	UBERON:0002114	28.14	gold quality
primary visual cortex	UBERON:0002436	27.74	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	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
blood	UBERON:0000178	25.92	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	24.97	gold quality
pancreas	UBERON:0001264	24.17	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
gastrocnemius	UBERON:0001388	23.78	gold quality
frontal cortex	UBERON:0001870	23.74	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.98

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or6c74	ENSMUSG00000044897
rattus_norvegicus	Or6c74	ENSRNOG00000008499

Paralogs (18): OR6F1 (ENSG00000169214), OR2AP1 (ENSG00000179615), OR6C4 (ENSG00000179626), OR6C2 (ENSG00000179695), OR6T1 (ENSG00000181499), OR6S1 (ENSG00000181803), OR6C70 (ENSG00000184954), OR6C76 (ENSG00000185821), OR6C75 (ENSG00000187857), OR6C6 (ENSG00000188324), OR6M1 (ENSG00000196099), OR6C68 (ENSG00000205327), OR6C65 (ENSG00000205328), OR6C3 (ENSG00000205329), OR6C1 (ENSG00000205330), OR6X1 (ENSG00000221931), OR6V1 (ENSG00000225781), OR6J1 (ENSG00000255804)

Protein

Protein identifiers

Olfactory receptor 6C74 — A6NCV1 (reviewed: A6NCV1)

All UniProt accessions (2): A0A126GW13, A6NCV1

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_001005490* (*=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 (23 total): topological domain 8, transmembrane region 7, sequence variant 5, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NCV1-F1	87.53	0.59

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): 95–177

Glycosylation sites (1): 3

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 20 (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, PAX3_TARGET_GENES, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY

GO Biological Process (4): 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 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
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 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
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

224 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR6C74	ANKRD44	Q8N8A2	418
OR6C74	YBX2	Q9Y2T7	411
OR6C74	FAM161A	Q3B820	370
OR6C74	CADM4	Q8NFZ8	360
OR6C74	FIGLA	Q6QHK4	326
OR6C74	RPTN	Q6XPR3	325
OR6C74	ZNF34	Q8IZ26	324
OR6C74	CEP350	Q5VT06	324
OR6C74	GMPR	P36959	317
OR6C74	METTL18	O95568	280
OR6C74	ANKRD10	Q9NXR5	263
OR6C74	ABRAXAS1	Q6UWZ7	263
OR6C74	FGF11	Q92914	251
OR6C74	NICOL1	Q5BLP8	249
OR6C74	PIK3C2G	O75747	248

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A096LPK9, A0A0X1KG70, A6NCV1, O95221, P0C7N1, P0C7N5, Q60881, Q60888, Q6IEU7, Q8NGA8, Q8NGB6, Q8NGC6, Q8NGD0, Q8NGD1, Q8NGD2, Q8NGD4, Q8NGD5, Q8NGE8, Q8NGF8, Q8NGI4, Q8NGI6, Q8NGJ1, Q8NGM9, Q8NGP8, Q8NGP9, Q8NGS9, Q8NGT0, Q8NH01, Q8NH10, Q8NH18, Q8NH21, Q8NH41, Q8NH42, Q8NH43, Q8NH49, Q8NH69, Q8NH85, Q8VEW5, Q8VF65, Q8VFD3

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

104 predictions. Top by Δscore:

Variant	Effect	Δscore
12:55248014:ATGGT:A	acceptor_gain	0.8100
12:55248014:AT:A	acceptor_gain	0.7400
12:55247349:TACAG:T	donor_loss	0.7000
12:55247350:ACAGG:A	donor_loss	0.7000
12:55247351:CAG:C	donor_loss	0.7000
12:55247352:AGGT:A	donor_loss	0.7000
12:55247388:T:G	acceptor_gain	0.7000
12:55247355:T:G	donor_loss	0.6900
12:55248015:T:G	acceptor_gain	0.6300
12:55247979:A:AG	acceptor_gain	0.5900
12:55247980:G:GG	acceptor_gain	0.5900
12:55247980:GA:G	acceptor_gain	0.5900
12:55247625:T:TA	acceptor_gain	0.5500
12:55248015:T:TA	acceptor_gain	0.5500
12:55247382:C:G	acceptor_gain	0.5300
12:55247354:G:GG	donor_gain	0.5100
12:55247433:T:A	acceptor_gain	0.5100
12:55247975:CAACA:C	acceptor_loss	0.4900
12:55247976:AACAG:A	acceptor_loss	0.4900
12:55247977:ACAGA:A	acceptor_loss	0.4900
12:55247979:A:AC	acceptor_loss	0.4900
12:55247980:G:GC	acceptor_loss	0.4900
12:55247980:GAGAA:G	acceptor_gain	0.4800
12:55247980:GAGA:G	acceptor_gain	0.4700
12:55247381:A:AG	acceptor_gain	0.4500
12:55247971:TTCTC:T	acceptor_loss	0.4400
12:55247387:ATGTT:A	acceptor_gain	0.4300
12:55247978:CAG:C	acceptor_gain	0.4300
12:55247979:AGA:A	acceptor_gain	0.4300
12:55247980:GAG:G	acceptor_gain	0.4300

AlphaMissense

2063 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:55365633:T:C	F175L	0.926
12:55365635:T:A	F175L	0.926
12:55365635:T:G	F175L	0.926
12:55365138:T:C	F10L	0.922
12:55365140:T:A	F10L	0.922
12:55365140:T:G	F10L	0.922
12:55365606:T:C	F166L	0.902
12:55365608:C:A	F166L	0.902
12:55365608:C:G	F166L	0.902
12:55365438:T:C	F110L	0.896
12:55365440:T:A	F110L	0.896
12:55365440:T:G	F110L	0.896
12:55365864:A:C	S252R	0.868
12:55365866:C:A	S252R	0.868
12:55365866:C:G	S252R	0.868
12:55365216:A:C	S36R	0.848
12:55365218:T:A	S36R	0.848
12:55365218:T:G	S36R	0.848
12:55365139:T:C	F10S	0.840
12:55365139:T:G	F10C	0.802
12:55365816:T:C	F236L	0.801
12:55365818:T:A	F236L	0.801
12:55365818:T:G	F236L	0.801
12:55365321:T:C	F71L	0.794
12:55365323:C:A	F71L	0.794
12:55365323:C:G	F71L	0.794
12:55365861:A:C	S251R	0.785
12:55365863:T:A	S251R	0.785
12:55365863:T:G	S251R	0.785
12:55365345:T:C	F79L	0.782

dbSNP variants (sampled 300 via entrez): RS1000240326 (12:55243320 A>G), RS1000296985 (12:55249747 G>A), RS1000668685 (12:55249870 A>G), RS1000670457 (12:55256067 G>A,T), RS1000839163 (12:55244755 T>A), RS1001116276 (12:55248805 G>A), RS1001156444 (12:55250840 G>A), RS1001282041 (12:55249076 C>T), RS1001358247 (12:55245020 G>C), RS1001491778 (12:55255480 A>G), RS1001623900 (12:55244170 A>G), RS1001746842 (12:55250569 G>T), RS1001906218 (12:55256261 C>T), RS1002012119 (12:55244435 C>T), RS1002123684 (12:55250237 A>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
Benzo(a)pyrene	increases methylation	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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