OR6C4

Summary

OR6C4 (olfactory receptor family 6 subfamily C member 4, HGNC:19632) is a protein-coding gene on chromosome 12q13.2, encoding Olfactory receptor 6C4 (Q8NGE1). 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 341418 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 63 total
• MANE Select transcript: NM_001005494

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19632
Approved symbol	OR6C4
Name	olfactory receptor family 6 subfamily C member 4
Location	12q13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000179626
Ensembl biotype	protein_coding
Entrez	341418

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000394256, ENST00000641569, ENST00000641851

RefSeq mRNA: 2 — MANE Select: NM_001005494 NM_001005494, NM_001385975

CCDS: CCDS31827

Canonical transcript exons

ENST00000641569 — 2 exons

Exon	Start	End
ENSE00003812170	55549602	55550118
ENSE00003812973	55551209	55555832

Expression profiles

Bgee: expression breadth broad, 18 present calls, max score 44.70.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	44.70	gold quality
colonic epithelium	UBERON:0000397	43.00	gold quality
granulocyte	CL:0000094	40.48	gold quality
ganglionic eminence	UBERON:0004023	38.84	gold quality
hindlimb stylopod muscle	UBERON:0004252	38.55	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
apex of heart	UBERON:0002098	34.99	gold quality
leukocyte	CL:0000738	34.35	gold quality
monocyte	CL:0000576	34.25	gold quality
bone marrow	UBERON:0002371	33.95	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
lymph node	UBERON:0000029	33.29	gold quality
muscle tissue	UBERON:0002385	32.27	gold quality
blood	UBERON:0000178	32.00	gold quality
tonsil	UBERON:0002372	31.87	gold quality
liver	UBERON:0002107	31.82	gold quality
calcaneal tendon	UBERON:0003701	31.60	gold quality
gall bladder	UBERON:0002110	31.43	silver quality
prefrontal cortex	UBERON:0000451	30.24	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
right adrenal gland cortex	UBERON:0035827	29.59	gold quality
superior frontal gyrus	UBERON:0002661	29.44	gold quality
placenta	UBERON:0001987	28.97	gold quality
right uterine tube	UBERON:0001302	28.95	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	28.72	gold quality
cortex of kidney	UBERON:0001225	28.48	gold quality
myometrium	UBERON:0001296	28.23	gold quality
adrenal tissue	UBERON:0018303	28.16	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-93593	yes	4.66
E-ANND-3	yes	3.94

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (18): OR6F1 (ENSG00000169214), OR2AP1 (ENSG00000179615), OR6C2 (ENSG00000179695), 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 6C4 — Q8NGE1 (reviewed: Q8NGE1)

Alternative names: Olfactory receptor OR12-10

All UniProt accessions (1): Q8NGE1

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_001005494, NP_001372904 (=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 (20 total): topological domain 8, transmembrane region 7, 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-Q8NGE1-F1	89.56	0.69

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 (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: 16 (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, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY, chr12q13

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

164 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR6C4	MAFIP	Q8WZ33	720
OR6C4	ZNF440	Q8IYI8	574
OR6C4	CYP27C1	Q4G0S4	481
OR6C4	KLHL10	Q6JEL2	432
OR6C4	NME8	Q8N427	412
OR6C4	SLC39A5	Q6ZMH5	371
OR6C4	GCSH	P23434	349
OR6C4	PRIM1	P49642	339
OR6C4	APOF	Q13790	326
OR6C4	RXFP2	Q8WXD0	318
OR6C4	SRPRA	P08240	313
OR6C4	PA2G4	Q9UQ80	295
OR6C4	SPATA24	Q86W54	272
OR6C4	TIMELESS	Q9UNS1	256
OR6C4	DNAJC18	Q9H819	235

IntAct

2 interactions, top by confidence:

A	B	Type	Score
OR6C4	ST6GALNAC4	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (1): ST6GALNAC4 (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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	63
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

207 predictions. Top by Δscore:

Variant	Effect	Δscore
12:55551329:C:G	donor_gain	0.8600
12:55551541:T:A	acceptor_gain	0.8300
12:55551329:C:CG	donor_gain	0.7600
12:55551543:G:C	acceptor_gain	0.7600
12:55551539:CTTGG:C	acceptor_gain	0.7400
12:55551328:GC:G	donor_gain	0.7100
12:55551954:T:G	acceptor_gain	0.6800
12:55551953:AT:A	acceptor_gain	0.6300
12:55551976:T:TA	acceptor_gain	0.6100
12:55551981:GCT:G	acceptor_gain	0.6100
12:55552074:T:A	acceptor_gain	0.6100
12:55551249:G:GG	donor_gain	0.6000
12:55552222:A:G	acceptor_gain	0.6000
12:55551244:GTTTG:G	donor_gain	0.5700
12:55552097:A:G	acceptor_gain	0.5700
12:55551248:GGTG:G	donor_loss	0.5600
12:55551249:GT:G	donor_loss	0.5600
12:55551250:T:A	donor_loss	0.5600
12:55551251:G:GC	donor_loss	0.5600
12:55551252:A:AC	donor_loss	0.5600
12:55551253:G:C	donor_loss	0.5400
12:55551540:TTGG:T	acceptor_gain	0.5300
12:55551980:A:AG	acceptor_gain	0.5300
12:55551981:G:GG	acceptor_gain	0.5300
12:55552096:A:AC	acceptor_gain	0.5300
12:55551976:T:G	acceptor_gain	0.5200
12:55551981:GCTGC:G	acceptor_gain	0.5200
12:55551542:G:A	acceptor_gain	0.5000
12:55552012:A:AG	acceptor_gain	0.4800
12:55551976:TGGCA:T	acceptor_loss	0.4700

AlphaMissense

2028 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:55551332:A:C	S36R	0.940
12:55551334:T:A	S36R	0.940
12:55551334:T:G	S36R	0.940
12:55551554:T:C	F110L	0.939
12:55551556:T:A	F110L	0.939
12:55551556:T:G	F110L	0.939
12:55551980:A:C	S252R	0.935
12:55551982:C:A	S252R	0.935
12:55551982:C:G	S252R	0.935
12:55551665:T:A	W147R	0.919
12:55551665:T:C	W147R	0.919
12:55551254:T:C	F10L	0.916
12:55551256:T:A	F10L	0.916
12:55551256:T:G	F10L	0.916
12:55552086:T:A	I287K	0.894
12:55551585:G:C	R120P	0.892
12:55551932:T:C	F236L	0.888
12:55551934:T:A	F236L	0.888
12:55551934:T:G	F236L	0.888
12:55551722:T:C	F166L	0.880
12:55551724:C:A	F166L	0.880
12:55551724:C:G	F166L	0.880
12:55551346:T:A	N40K	0.879
12:55551346:T:G	N40K	0.879
12:55551561:T:C	L112P	0.874
12:55551574:G:A	M116I	0.867
12:55551574:G:C	M116I	0.867
12:55551574:G:T	M116I	0.867
12:55551429:A:T	E68V	0.866
12:55551593:G:C	A123P	0.858

dbSNP variants (sampled 300 via entrez): RS1000372173 (12:55549833 C>T), RS1001184594 (12:55552017 A>G), RS1001875621 (12:55550140 A>T), RS1002093214 (12:55549922 C>G), RS1002531357 (12:55556142 T>A), RS1002715371 (12:55553964 C>A,T), RS1003521445 (12:55550214 A>G), RS1003551052 (12:55550500 C>T), RS1003724188 (12:55547842 G>T), RS1003806382 (12:55555931 T>A,C), RS1004068041 (12:55555808 G>A), RS1004371902 (12:55549114 A>T), RS1004843908 (12:55547793 G>A), RS1005510533 (12:55555175 C>T), RS1005656835 (12:55550180 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

3 associations (top):

Study	Trait	p-value
GCST002238_5	Contrast sensitivity	5.000000e-06
GCST007681_3	Thyroid stimulating hormone levels	1.000000e-07
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

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	affects cotreatment, decreases expression	2
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Copper	affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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