OR4D1

Summary

OR4D1 (olfactory receptor family 4 subfamily D member 1, HGNC:8293) is a protein-coding gene on chromosome 17q22, encoding Olfactory receptor 4D1 (Q15615). 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 26689 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 30 total
• MANE Select transcript: NM_001386095

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8293
Approved symbol	OR4D1
Name	olfactory receptor family 4 subfamily D member 1
Location	17q22
Locus type	gene with protein product
Status	Approved
Aliases	TPCR16
Ensembl gene	ENSG00000141194
Ensembl biotype	protein_coding
Entrez	26689

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000268912, ENST00000641449

RefSeq mRNA: 2 — MANE Select: NM_001386095 NM_001386095, NM_012374

CCDS: CCDS42365

Canonical transcript exons

ENST00000268912 — 4 exons

Exon	Start	End
ENSE00000946972	58155135	58159585
ENSE00003812578	58149429	58149796
ENSE00003917667	58148384	58148584
ENSE00003921400	58153857	58153963

Expression profiles

Bgee: expression breadth tissue_specific, 8 present calls, max score 63.37.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	63.37	gold quality
epithelium of nasopharynx	UBERON:0001951	58.21	gold quality
nasal cavity epithelium	UBERON:0005384	57.88	gold quality
skin of hip	UBERON:0001554	57.11	silver quality
vena cava	UBERON:0004087	56.65	gold quality
heart right ventricle	UBERON:0002080	56.15	gold quality
sperm	CL:0000019	55.40	gold quality
oocyte	CL:0000023	55.06	gold quality
cardia of stomach	UBERON:0001162	52.04	gold quality
lymph node	UBERON:0000029	50.65	gold quality
blood	UBERON:0000178	49.37	silver quality
stromal cell of endometrium	CL:0002255	48.55	gold quality
lower lobe of lung	UBERON:0008949	46.14	silver quality
subthalamic nucleus	UBERON:0001906	46.05	gold quality
upper leg skin	UBERON:0004262	45.40	silver quality
vastus lateralis	UBERON:0001379	45.13	gold quality
quadriceps femoris	UBERON:0001377	45.01	gold quality
caecum	UBERON:0001153	44.75	silver quality
dorsal plus ventral thalamus	UBERON:0001897	44.23	gold quality
leukocyte	CL:0000738	43.97	gold quality
bone marrow	UBERON:0002371	43.97	gold quality
sural nerve	UBERON:0015488	43.76	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
trachea	UBERON:0003126	43.28	gold quality
body of tongue	UBERON:0011876	43.11	gold quality
vermiform appendix	UBERON:0001154	42.95	gold quality
pylorus	UBERON:0001166	42.91	gold quality
pharyngeal mucosa	UBERON:0000355	42.65	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
buccal mucosa cell	CL:0002336	42.32	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.01

Regulation

Is transcription factor: no

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or4d1	ENSMUSG00000060787

Paralogs (130): OR1I1 (ENSG00000094661), OR12D3 (ENSG00000112462), OR7A10 (ENSG00000127515), OR7C2 (ENSG00000127529), OR7C1 (ENSG00000127530), OR1E2 (ENSG00000127780), OR1J1 (ENSG00000136834), OR1L4 (ENSG00000136939), 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), OR4K17 (ENSG00000176230)

Protein

Protein identifiers

Olfactory receptor 4D1 — Q15615 (reviewed: Q15615)

Alternative names: Olfactory receptor 4D3, Olfactory receptor TPCR16

All UniProt accessions (1): Q15615

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_001373024, NP_036506 (=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 (22 total): topological domain 8, transmembrane region 7, sequence variant 2, sequence conflict 2, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15615-F1	89.47	0.65

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: 25 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, XU_GH1_AUTOCRINE_TARGETS_UP, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, chr17q22, XU_GH1_EXOGENOUS_TARGETS_UP, 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, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY

GO Biological Process (4): sensory perception of smell (GO:0007608), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), 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
sensory perception of chemical stimulus	1
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 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

206 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR4D1	CFAP77	Q6ZQR2	507
OR4D1	SSMEM1	Q8WWF3	506
OR4D1	ZNF280C	Q8ND82	445
OR4D1	KLHL36	Q8N4N3	436
OR4D1	NT5DC1	Q5TFE4	398
OR4D1	FAM114A2	Q9NRY5	378
OR4D1	FBXW12	Q6X9E4	370
OR4D1	LUZP1	Q86V48	323
OR4D1	OXER1	Q8TDS5	320
OR4D1	DNTTIP2	Q5QJE6	311
OR4D1	DYRK4	Q9NR20	302
OR4D1	FUT5	Q11128	296
OR4D1	PABIR3	Q6P4D5	277
OR4D1	ACOT11	Q8WXI4	273
OR4D1	ZFAT	Q9P243	265

IntAct

0 interactions, top by confidence:

BioGRID (1): OR4D1 (Negative Genetic)

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	28
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

262 predictions. Top by Δscore:

Variant	Effect	Δscore
17:58155818:T:TA	acceptor_gain	0.8300
17:58155808:A:AG	acceptor_gain	0.8200
17:58155587:T:TA	donor_gain	0.8000
17:58155588:A:AA	donor_gain	0.8000
17:58155378:A:AG	acceptor_gain	0.7900
17:58155379:G:GG	acceptor_gain	0.7900
17:58155702:A:G	acceptor_gain	0.7900
17:58155797:T:TA	acceptor_gain	0.7200
17:58155809:C:G	acceptor_gain	0.6700
17:58155658:TGTGG:T	acceptor_gain	0.6500
17:58155808:ACT:A	acceptor_gain	0.6500
17:58155660:TGG:T	acceptor_gain	0.6400
17:58155807:T:G	acceptor_gain	0.6400
17:58156143:T:G	acceptor_gain	0.6400
17:58155660:T:TA	acceptor_gain	0.6300
17:58155667:A:AG	acceptor_gain	0.6300
17:58155814:ATCCT:A	acceptor_gain	0.6300
17:58155483:G:GT	donor_gain	0.6100
17:58155368:G:GT	acceptor_gain	0.5800
17:58155806:ATACT:A	acceptor_gain	0.5800
17:58155810:T:A	acceptor_gain	0.5600
17:58155821:T:TA	acceptor_gain	0.5600
17:58156142:AT:A	acceptor_gain	0.5600
17:58155806:A:AG	acceptor_gain	0.5500
17:58155476:G:GT	donor_gain	0.5300
17:58155703:G:GG	acceptor_gain	0.5300
17:58156142:A:AG	acceptor_gain	0.5300
17:58155666:CAATA:C	acceptor_gain	0.5000
17:58155819:G:A	acceptor_gain	0.5000
17:58156141:C:G	acceptor_gain	0.5000

AlphaMissense

2028 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:58155655:T:C	F168L	0.918
17:58155657:C:A	F168L	0.918
17:58155657:C:G	F168L	0.918
17:58155187:T:C	F12L	0.904
17:58155189:T:A	F12L	0.904
17:58155189:T:G	F12L	0.904
17:58155682:T:C	F177L	0.903
17:58155684:C:A	F177L	0.903
17:58155684:C:G	F177L	0.903
17:58155904:T:C	F251L	0.892
17:58155906:C:A	F251L	0.892
17:58155906:C:G	F251L	0.892
17:58155760:A:C	S203R	0.836
17:58155762:T:A	S203R	0.836
17:58155762:T:G	S203R	0.836
17:58155188:T:G	F12C	0.829
17:58155784:T:C	F211L	0.828
17:58155786:C:A	F211L	0.828
17:58155786:C:G	F211L	0.828
17:58155598:T:A	W149R	0.826
17:58155598:T:C	W149R	0.826
17:58155973:A:C	S274R	0.823
17:58155975:C:A	S274R	0.823
17:58155975:C:G	S274R	0.823
17:58155353:C:A	A67D	0.801
17:58155518:G:C	R122P	0.796
17:58155367:T:C	C72R	0.784
17:58155453:G:C	Q100H	0.777
17:58155453:G:T	Q100H	0.777
17:58155937:T:C	F262L	0.772

dbSNP variants (sampled 300 via entrez): RS1000323728 (17:58151366 A>G), RS1000460275 (17:58146834 G>C), RS1000554369 (17:58151968 A>G), RS1000652187 (17:58157020 T>C,G), RS1000794425 (17:58158786 T>G), RS1000915551 (17:58157236 C>G,T), RS1001055668 (17:58158557 G>A), RS1001261642 (17:58150020 T>C), RS1001382762 (17:58152541 C>T), RS1001564022 (17:58156254 C>A,T), RS1001624245 (17:58148937 T>C), RS1001859648 (17:58157359 C>A), RS1002124355 (17:58159398 G>A), RS1002966079 (17:58154380 A>G), RS1003102395 (17:58153937 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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases mutagenesis	2
Cadmium Chloride	increases abundance, increases expression	2
triphenyl phosphate	affects expression	1
di-n-butylphosphoric acid	affects expression	1
Resveratrol	affects cotreatment, decreases expression	1
Acetaminophen	decreases expression	1
Cadmium	increases abundance, increases expression	1
Copper	affects cotreatment, decreases expression	1
Malathion	decreases expression	1
Aflatoxin B1	decreases methylation	1
Asbestos, Crocidolite	affects expression	1

Clinical trials (associated diseases)

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