OR4D2

Summary

OR4D2 (olfactory receptor family 4 subfamily D member 2, HGNC:8294) is a protein-coding gene on chromosome 17q22, encoding Olfactory receptor 4D2 (P58180). 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 124538 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 52 total
• MANE Select transcript: NM_001004707

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8294
Approved symbol	OR4D2
Name	olfactory receptor family 4 subfamily D member 2
Location	17q22
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000255713
Ensembl biotype	protein_coding
Entrez	124538

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000545221, ENST00000641866

RefSeq mRNA: 1 — MANE Select: NM_001004707 NM_001004707

CCDS: CCDS32688

Canonical transcript exons

ENST00000545221 — 2 exons

Exon	Start	End
ENSE00002275991	58169638	58171116
ENSE00003813200	58166982	58167053

Expression profiles

Bgee: expression breadth not_expressed, 0 present calls, max score 37.20.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	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	35.77	gold quality
hindlimb stylopod muscle	UBERON:0004252	35.77	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
bone marrow	UBERON:0002371	32.92	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
leukocyte	CL:0000738	30.92	gold quality
monocyte	CL:0000576	30.67	gold quality
tonsil	UBERON:0002372	30.60	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
calcaneal tendon	UBERON:0003701	29.06	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
urinary bladder	UBERON:0001255	28.67	gold quality
gall bladder	UBERON:0002110	28.51	gold quality
blood	UBERON:0000178	28.34	gold quality
liver	UBERON:0002107	28.28	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
right coronary artery	UBERON:0001625	26.99	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
cortex of kidney	UBERON:0001225	25.47	gold quality
uterine cervix	UBERON:0000002	25.32	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.13

Regulation

Is transcription factor: no

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or4d2b	ENSMUSG00000093839
mus_musculus	Or4d2	ENSMUSG00000093920
rattus_norvegicus	Or4d2	ENSRNOG00000030521
rattus_norvegicus	Or4d2b	ENSRNOG00000071576

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 4D2 — P58180 (reviewed: P58180)

Alternative names: B-lymphocyte membrane protein BC2009, Olfactory receptor OR17-24

All UniProt accessions (2): P58180, A0A126GWK0

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_001004707* (*=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-P58180-F1	89.83	0.67

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

2 pathways

ID	Pathway
R-HSA-381753	Olfactory Signaling Pathway
R-HSA-9752946	Expression and translocation of olfactory receptors

MSigDB gene sets: 23 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, chr17q22, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, NIKOLSKY_MUTATED_AND_AMPLIFIED_IN_BREAST_CANCER, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, MIKKELSEN_MCV6_ICP_WITH_H3K27ME3, GOBP_SENSORY_PERCEPTION_OF_SMELL, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, NFKBIA_TARGET_GENES

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-2 pathways:

Category	Pathways
Sensory Perception	1
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

254 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR4D2	ANO2	Q9NQ90	420
OR4D2	GNG7	O60262	419
OR4D2	PDE2A	O00408	399
OR4D2	VN1R4	Q7Z5H5	355
OR4D2	CAMK2D	Q13557	349
OR4D2	VN1R2	Q8NFZ6	323
OR4D2	SLC8A1	P32418	311
OR4D2	VN1R1	Q9GZP7	270
OR4D2	PRKG1	P14619	246
OR4D2	TAS2R13	Q9NYV9	245
OR4D2	TAS2R5	Q9NYW4	228
OR4D2	TAS2R1	Q9NYW7	227
OR4D2	OR51A7	Q8NH64	225
OR4D2	TAS2R4	Q9NYW5	220
OR4D2	TAS2R31	P59538	215
OR4D2	TAS2R50	P59544	215

IntAct

2 interactions, top by confidence:

A	B	Type	Score
OR4D2	EEF1A2	psi-mi:“MI:0914”(association)	0.350

BioGRID (4): OR4D2 (Affinity Capture-MS), EEF1A2 (Affinity Capture-MS), VMA21 (Affinity Capture-MS), OR4A15 (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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	47
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

256 predictions. Top by Δscore:

Variant	Effect	Δscore
17:58170320:T:TA	acceptor_gain	0.7700
17:58170048:C:G	donor_gain	0.7500
17:58170090:G:GA	donor_gain	0.7400
17:58170299:T:TA	acceptor_gain	0.6800
17:58170316:ATCCT:A	acceptor_gain	0.6800
17:58170547:G:GG	donor_gain	0.6300
17:58170239:T:A	acceptor_gain	0.6200
17:58170323:T:TA	acceptor_gain	0.6200
17:58170544:GCA:G	donor_gain	0.6200
17:58170546:A:AG	donor_gain	0.6200
17:58170204:A:G	acceptor_gain	0.6000
17:58170263:G:GG	donor_gain	0.6000
17:58170345:G:T	donor_gain	0.6000
17:58170089:T:TA	donor_gain	0.5900
17:58170249:CAAGA:C	acceptor_gain	0.5900
17:58170410:TTCC:T	donor_gain	0.5700
17:58170248:TCAAG:T	acceptor_gain	0.5600
17:58170262:A:AG	donor_gain	0.5600
17:58170326:TGCTG:T	acceptor_gain	0.5600
17:58170560:G:GT	donor_gain	0.5600
17:58169978:G:T	donor_gain	0.5500
17:58170330:G:T	acceptor_gain	0.5500
17:58170415:A:G	acceptor_gain	0.5500
17:58170361:G:GT	donor_gain	0.5400
17:58170357:G:T	donor_gain	0.5300
17:58169978:G:GT	donor_gain	0.5200
17:58170274:G:GT	donor_gain	0.5200
17:58170321:G:A	acceptor_gain	0.5200
17:58170329:TG:T	acceptor_gain	0.5200
17:58170353:G:GT	donor_gain	0.5100

AlphaMissense

2004 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:58170184:T:C	F177L	0.894
17:58170186:C:A	F177L	0.894
17:58170186:C:G	F177L	0.894
17:58170157:T:C	F168L	0.892
17:58170159:C:A	F168L	0.892
17:58170159:C:G	F168L	0.892
17:58170406:T:C	F251L	0.876
17:58170408:C:A	F251L	0.876
17:58170408:C:G	F251L	0.876
17:58169689:T:C	F12L	0.871
17:58169691:T:A	F12L	0.871
17:58169691:T:G	F12L	0.871
17:58170439:T:C	F262L	0.817
17:58170441:C:A	F262L	0.817
17:58170441:C:G	F262L	0.817
17:58169737:T:C	F28L	0.796
17:58169739:T:A	F28L	0.796
17:58169739:T:G	F28L	0.796
17:58170286:T:C	F211L	0.795
17:58170288:C:A	F211L	0.795
17:58170288:C:G	F211L	0.795
17:58169959:T:C	F102L	0.786
17:58169961:C:A	F102L	0.786
17:58169961:C:G	F102L	0.786
17:58169872:T:C	F73L	0.774
17:58169874:C:A	F73L	0.774
17:58169874:C:G	F73L	0.774
17:58170009:G:A	M118I	0.774
17:58170009:G:C	M118I	0.774
17:58170009:G:T	M118I	0.774

dbSNP variants (sampled 300 via entrez): RS1000337740 (17:58171485 C>A), RS1001204095 (17:58165719 T>C,G), RS1001867558 (17:58168796 C>T), RS1001897276 (17:58169129 G>A,C), RS1001907367 (17:58166401 T>A), RS1002382454 (17:58166186 C>A), RS1002505964 (17:58165785 C>T), RS1002570038 (17:58169310 A>C), RS1003051718 (17:58168942 G>C), RS1004433441 (17:58171189 G>C), RS1004708593 (17:58168164 C>G,T), RS1006380892 (17:58169601 A>G,T), RS1006410455 (17:58169403 C>T), RS1006600516 (17:58171391 A>G), RS1007597436 (17:58169969 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

1 associations (top):

Study	Trait	p-value
GCST004361_6	Estrone/androstenedione ratio in resected early stage-receptor positive breast cancer	8.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007970	estrone measurement
EFO:0007972	androstenedione 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
bisphenol A	decreases methylation	1
Benzo(a)pyrene	increases methylation	1
Diuron	decreases expression	1
Asbestos, Crocidolite	affects expression	1
Cadmium Chloride	increases expression	1

Clinical trials (associated diseases)

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