OR4D6

Summary

OR4D6 (olfactory receptor family 4 subfamily D member 6, HGNC:15175) is a protein-coding gene on chromosome 11q12.1, encoding Olfactory receptor 4D6 (Q8NGJ1). 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 219983 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 47 total
• MANE Select transcript: NM_001004708

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15175
Approved symbol	OR4D6
Name	olfactory receptor family 4 subfamily D member 6
Location	11q12.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000166884
Ensembl biotype	protein_coding
Entrez	219983

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000300127

RefSeq mRNA: 1 — MANE Select: NM_001004708 NM_001004708

CCDS: CCDS31562

Canonical transcript exons

ENST00000300127 — 1 exons

Exon	Start	End
ENSE00001107410	59456961	59457905

Expression profiles

Bgee: expression breadth tissue_specific, 5 present calls, max score 37.20.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	37.20	gold quality
sural nerve	UBERON:0015488	37.13	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
mucosa of stomach	UBERON:0001199	33.65	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
vermiform appendix	UBERON:0001154	33.17	silver 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
tonsil	UBERON:0002372	30.47	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
monocyte	CL:0000576	29.57	gold quality
left uterine tube	UBERON:0001303	29.43	gold quality
leukocyte	CL:0000738	29.39	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
duodenum	UBERON:0002114	28.14	gold quality
urinary bladder	UBERON:0001255	27.86	gold quality
lymph node	UBERON:0000029	27.57	gold quality
placenta	UBERON:0001987	27.55	gold quality
thoracic mammary gland	UBERON:0005200	27.45	silver quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
blood	UBERON:0000178	26.51	gold quality
omental fat pad	UBERON:0010414	26.28	silver quality
endocervix	UBERON:0000458	26.04	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
muscle of leg	UBERON:0001383	25.62	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.81

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• From musk to body odor: Decoding olfaction through genetic variation. (PMID:35113854)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or4d6	ENSMUSG00000067524
rattus_norvegicus	Or4d6	ENSRNOG00000090873

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), 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), OR4K17 (ENSG00000176230)

Protein

Protein identifiers

Olfactory receptor 4D6 — Q8NGJ1 (reviewed: Q8NGJ1)

Alternative names: Olfactory receptor OR11-250

All UniProt accessions (1): Q8NGJ1

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_001004708* (*=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 (25 total): topological domain 8, transmembrane region 7, sequence variant 7, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGJ1-F1	88.48	0.58

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): 97–189

Glycosylation sites (1): 5

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, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, CHEN_METABOLIC_SYNDROM_NETWORK, 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

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

156 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR4D6	RNF225	M0QZC1	583
OR4D6	GASK1A	Q9UFP1	474
OR4D6	ZNF585B	Q52M93	451
OR4D6	K7EJK4	K7EJK4	438
OR4D6	ZNF781	Q8N8C0	432
OR4D6	ALG10B	Q5I7T1	419
OR4D6	TAAR5	O14804	411
OR4D6	RHO	P08100	394
OR4D6	CALHM3	Q86XJ0	380
OR4D6	PDAP1	Q13442	365
OR4D6	SYNE1	Q8NF91	361
OR4D6	ZNF699	Q32M78	358
OR4D6	SPANXD	Q9BXN6	358
OR4D6	OR8B8	Q15620	325
OR4D6	TASOR	Q9UK61	322

IntAct

3 interactions, top by confidence:

A	B	Type	Score
PARP2	OR4D6	psi-mi:“MI:0557”(adp ribosylation reaction)	0.440
OR4D6	LRRC8E	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (3): OR4D6 (Reconstituted Complex), LRRC8E (Affinity Capture-MS), APP (Reconstituted Complex)

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	45
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

207 predictions. Top by Δscore:

Variant	Effect	Δscore
11:59457372:A:T	donor_gain	0.9500
11:59457730:T:G	acceptor_gain	0.8200
11:59457371:G:GT	donor_gain	0.8100
11:59457375:GAGGT:G	donor_gain	0.7200
11:59457227:G:GT	donor_gain	0.6800
11:59457228:A:T	donor_gain	0.6800
11:59457729:A:AG	acceptor_gain	0.6800
11:59457467:T:TA	acceptor_gain	0.6700
11:59457405:TGG:T	donor_loss	0.6500
11:59457406:GGG:G	donor_loss	0.6500
11:59457409:TGAGT:T	donor_loss	0.6500
11:59457410:G:GG	donor_loss	0.6500
11:59457411:A:AA	donor_loss	0.6400
11:59457477:ACACT:A	acceptor_gain	0.6300
11:59457395:G:GA	donor_gain	0.6100
11:59457406:GG:G	donor_gain	0.6100
11:59457407:GG:G	donor_gain	0.6100
11:59457408:G:GG	donor_gain	0.6100
11:59457546:G:C	acceptor_gain	0.6100
11:59457733:A:AG	acceptor_gain	0.6100
11:59457413:T:G	donor_loss	0.5900
11:59457381:T:A	donor_gain	0.5800
11:59457738:C:A	acceptor_gain	0.5700
11:59457604:T:TA	acceptor_gain	0.5600
11:59457387:GCCTT:G	donor_loss	0.5500
11:59457380:G:A	donor_gain	0.5400
11:59457630:A:AG	donor_gain	0.5300
11:59457728:C:G	acceptor_gain	0.5300
11:59457734:C:G	acceptor_gain	0.5300
11:59457733:ACT:A	acceptor_gain	0.5200

AlphaMissense

2059 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:59457462:T:C	F168L	0.808
11:59457464:C:A	F168L	0.808
11:59457464:C:G	F168L	0.808
11:59457489:T:C	F177L	0.786
11:59457491:C:A	F177L	0.786
11:59457491:C:G	F177L	0.786
11:59457711:T:C	F251L	0.784
11:59457713:C:A	F251L	0.784
11:59457713:C:G	F251L	0.784
11:59456994:T:C	F12L	0.777
11:59456996:T:A	F12L	0.777
11:59456996:T:G	F12L	0.777
11:59457591:T:C	F211L	0.739
11:59457593:C:A	F211L	0.739
11:59457593:C:G	F211L	0.739
11:59457177:T:C	F73L	0.729
11:59457179:T:A	F73L	0.729
11:59457179:T:G	F73L	0.729
11:59457141:T:C	F61L	0.698
11:59457143:T:A	F61L	0.698
11:59457143:T:G	F61L	0.698
11:59457042:T:C	F28L	0.693
11:59457044:T:A	F28L	0.693
11:59457044:T:G	F28L	0.693
11:59457744:T:C	F262L	0.685
11:59457746:C:A	F262L	0.685
11:59457746:C:G	F262L	0.685
11:59457830:A:C	R290S	0.682
11:59457830:A:T	R290S	0.682
11:59457264:T:C	F102L	0.663

dbSNP variants (sampled 300 via entrez): RS1004032909 (11:59457603 C>A,T), RS1004063967 (11:59457371 G>A,C), RS1004641663 (11:59455294 AT>A,ATT), RS1005697695 (11:59456220 A>C), RS1006637199 (11:59455236 C>G,T), RS1006977014 (11:59455586 T>C), RS1008990059 (11:59456892 A>C,G), RS1011657158 (11:59456702 T>A), RS1013094373 (11:59456578 A>G), RS1013537967 (11:59455022 C>A,T), RS1013838829 (11:59455212 C>T), RS1014125640 (11:59456422 G>A), RS1015193503 (11:59458170 A>C), RS1015497969 (11:59457377 G>A,T), RS1016659147 (11:59458192 C>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

1 associations (top):

Study	Trait	p-value
GCST002107_1	Odorant perception (β-ionone)	1.000000e-31

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs1453542	OR4D6		0.00	0

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Gemcitabine	affects response to substance	1
Arsenic	affects methylation	1
Atrazine	increases expression	1
Benzo(a)pyrene	increases methylation, affects methylation	1
Flavoring Agents	affects cotreatment, increases expression	1
Glycerol	affects cotreatment, increases expression	1
Nicotine	affects cotreatment, increases expression	1
Carboplatin	affects response to substance	1
Propylene Glycol	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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