OR4C6

Summary

OR4C6 (olfactory receptor family 4 subfamily C member 6, HGNC:14743) is a protein-coding gene on chromosome 11q11, encoding Olfactory receptor 4C6 (Q8NH72). 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 219432 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 63 total
• MANE Select transcript: NM_001004704

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14743
Approved symbol	OR4C6
Name	olfactory receptor family 4 subfamily C member 6
Location	11q11
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000181903
Ensembl biotype	protein_coding
Entrez	219432

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000314259, ENST00000690330

RefSeq mRNA: 1 — MANE Select: NM_001004704 NM_001004704

CCDS: CCDS31506

Canonical transcript exons

ENST00000314259 — 2 exons

Exon	Start	End
ENSE00001272221	55665125	55666096
ENSE00003813183	55662201	55662248

Expression profiles

Bgee: expression breadth tissue_specific, 3 present calls, max score 40.51.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	40.51	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
tonsil	UBERON:0002372	35.38	gold quality
lymph node	UBERON:0000029	33.73	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
gall bladder	UBERON:0002110	31.91	silver quality
bone marrow	UBERON:0002371	31.74	gold quality
leukocyte	CL:0000738	31.43	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
monocyte	CL:0000576	31.05	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
liver	UBERON:0002107	28.34	gold quality
duodenum	UBERON:0002114	28.14	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.82	gold quality
urinary bladder	UBERON:0001255	25.72	gold quality
muscle of leg	UBERON:0001383	25.00	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
frontal cortex	UBERON:0001870	23.90	gold quality
gastrocnemius	UBERON:0001388	23.81	gold quality
kidney	UBERON:0002113	23.60	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.47

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or4c102	ENSMUSG00000068808
mus_musculus	Or4c123	ENSMUSG00000075094
rattus_norvegicus	Or4c130-ps1	ENSRNOG00000068313

Paralogs (130): OR1I1 (ENSG00000094661), OR12D3 (ENSG00000112462), OR7A10 (ENSG00000127515), OR7C2 (ENSG00000127529), 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)

Protein

Protein identifiers

Olfactory receptor 4C6 — Q8NH72 (reviewed: Q8NH72)

Alternative names: Olfactory receptor OR11-138

All UniProt accessions (2): Q8NH72, A0A126GVN0

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_001004704* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050427	Olfactory_Receptors	Family

Pfam: PF13853

UniProt features (19 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NH72-F1	90.17	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): 95–187

Glycosylation sites (1): 6

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 19 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, CAMPS_COLON_CANCER_COPY_NUMBER_DN, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, RAY_TUMORIGENESIS_BY_ERBB2_CDC25A_UP, 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, chr11q11, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION

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

186 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR4C6	SLC71A3P	Q5VZR4	544
OR4C6	NPY4R2	P0DQD5	445
OR4C6	ZRANB2	O95218	405
OR4C6	NEGR1	Q7Z3B1	394
OR4C6	HEATR4	Q86WZ0	373
OR4C6	ZNF280C	Q8ND82	371
OR4C6	GPRC5B	Q9NZH0	369
OR4C6	TASOR2	Q5VWN6	354
OR4C6	PATE2	Q6UY27	351
OR4C6	TRIM48	Q8IWZ4	339
OR4C6	LRRC19	Q9H756	322
OR4C6	TRIM51	Q9BSJ1	321
OR4C6	VRTN	Q9H8Y1	305
OR4C6	SLC25A43	Q8WUT9	300
OR4C6	TMEM255A	Q5JRV8	297
OR4C6	DHRSX	Q8N5I4	297

IntAct

0 interactions, top by confidence:

BioGRID (1): OR4C6 (Affinity Capture-MS)

ESM2 similar proteins: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, P0C604, P0C623, P0C645, P0DN82, P58180, P58182, Q15615, Q60881, Q6IF82, Q8IXE1, Q8N0Y3, Q8NGA8, Q8NGB4, Q8NGB6, Q8NGC2, Q8NGC3, Q8NGD0, Q8NGD1, Q8NGD2, Q8NGD5, Q8NGE8, Q8NGF4, Q8NGF8, Q8NGF9, Q8NGI4, Q8NGI6, Q8NGJ0, Q8NGJ1, Q8NGL6, Q8NGM1, Q8NGN0, Q8NGN8, Q8NGX5, Q8NH05, Q8NH42, Q8NH49

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	57
Likely benign	4
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

375 predictions. Top by Δscore:

Variant	Effect	Δscore
11:55665262:G:GG	donor_gain	0.9500
11:55665540:G:GG	donor_gain	0.9500
11:55665298:G:GA	donor_gain	0.9300
11:55665257:GTCAT:G	donor_gain	0.9100
11:55665233:A:T	donor_gain	0.8900
11:55665709:GTT:G	acceptor_gain	0.8900
11:55665708:A:AG	acceptor_gain	0.8600
11:55665709:G:GG	acceptor_gain	0.8600
11:55665539:T:TG	donor_gain	0.7900
11:55665566:A:AG	donor_gain	0.7700
11:55665526:C:G	donor_gain	0.7600
11:55665581:T:A	donor_gain	0.7600
11:55665577:G:GT	donor_gain	0.7500
11:55665261:T:G	donor_gain	0.7200
11:55665265:T:A	donor_gain	0.7200
11:55665366:T:TA	acceptor_gain	0.7200
11:55665544:GCCCC:G	donor_gain	0.7200
11:55665580:G:A	donor_gain	0.7100
11:55665330:C:A	donor_gain	0.7000
11:55665566:A:G	donor_gain	0.7000
11:55665232:G:GT	donor_gain	0.6800
11:55665588:TAATG:T	donor_loss	0.6800
11:55665590:ATG:A	donor_loss	0.6800
11:55665591:TG:T	donor_loss	0.6800
11:55665592:GG:G	donor_loss	0.6800
11:55665594:TA:T	donor_loss	0.6800
11:55665595:A:C	donor_loss	0.6800
11:55665296:GTG:G	donor_gain	0.6700
11:55665574:ACG:A	donor_gain	0.6700
11:55665576:G:A	donor_gain	0.6700

AlphaMissense

2045 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:55665662:T:C	F166L	0.842
11:55665664:C:A	F166L	0.842
11:55665664:C:G	F166L	0.842
11:55665194:T:C	F10L	0.810
11:55665196:C:A	F10L	0.810
11:55665196:C:G	F10L	0.810
11:55665689:T:C	F175L	0.742
11:55665691:T:A	F175L	0.742
11:55665691:T:G	F175L	0.742
11:55665911:T:C	F249L	0.702
11:55665913:T:A	F249L	0.702
11:55665913:T:G	F249L	0.702
11:55665464:T:C	F100L	0.643
11:55665466:T:A	F100L	0.643
11:55665466:T:G	F100L	0.643
11:55665514:G:A	M116I	0.629
11:55665514:G:C	M116I	0.629
11:55665514:G:T	M116I	0.629
11:55665926:T:C	F254L	0.622
11:55665928:C:A	F254L	0.622
11:55665928:C:G	F254L	0.622
11:55665195:T:C	F10S	0.606
11:55665341:T:C	F59L	0.593
11:55665343:T:A	F59L	0.593
11:55665343:T:G	F59L	0.593
11:55665767:A:C	S201R	0.592
11:55665769:T:A	S201R	0.592
11:55665769:T:G	S201R	0.592
11:55665704:T:C	F180L	0.591
11:55665706:T:A	F180L	0.591

dbSNP variants (sampled 300 via entrez): RS1000569759 (11:55666374 T>C), RS1001177116 (11:55662045 T>G), RS1003762113 (11:55664758 C>T), RS1004363130 (11:55664496 A>T), RS1004436615 (11:55664249 G>A,T), RS1004697122 (11:55661915 C>G), RS1004769234 (11:55661168 T>C,G), RS1005673799 (11:55660635 C>A), RS1007992924 (11:55663808 G>C), RS1011278421 (11:55662776 G>A), RS1011363741 (11:55664765 G>C), RS1011623389 (11:55663666 C>T), RS1012284923 (11:55666035 C>T), RS1015799209 (11:55664498 T>C), RS1016498970 (11:55666427 TG>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

7 associations (top):

Study	Trait	p-value
GCST008070_12	HDL cholesterol levels	6.000000e-06
GCST008075_111	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	1.000000e-16
GCST008075_36	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	2.000000e-17
GCST008084_182	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	1.000000e-17
GCST008084_47	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	8.000000e-19
GCST008085_154	HDL cholesterol levels in current drinkers	7.000000e-10
GCST008085_36	HDL cholesterol levels in current drinkers	2.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004329	alcohol drinking

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
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
Air Pollutants	increases expression	1
Benzo(a)pyrene	increases methylation	1
Lipopolysaccharides	increases expression, decreases expression, affects response to substance	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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