OR52D1

Summary

OR52D1 (olfactory receptor family 52 subfamily D member 1, HGNC:15212) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 52D1 (Q9H346). 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 390066 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• MANE Select transcript: NM_001005163

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15212
Approved symbol	OR52D1
Name	olfactory receptor family 52 subfamily D member 1
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000181609
Ensembl biotype	protein_coding
Entrez	390066

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000322641

RefSeq mRNA: 1 — MANE Select: NM_001005163 NM_001005163

CCDS: CCDS31384

Canonical transcript exons

ENST00000322641 — 1 exons

Exon	Start	End
ENSE00001112256	5488685	5489749

Expression profiles

Bgee: expression breadth tissue_specific, 7 present calls, max score 81.58.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	81.58	silver quality
ileal mucosa	UBERON:0000331	70.09	silver quality
colonic epithelium	UBERON:0000397	57.35	silver quality
epithelial cell of pancreas	CL:0000083	57.27	gold quality
endothelial cell	CL:0000115	56.26	gold quality
sural nerve	UBERON:0015488	55.39	silver quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
calcaneal tendon	UBERON:0003701	52.52	silver quality
myocardium	UBERON:0002349	50.25	gold quality
oocyte	CL:0000023	49.47	gold quality
quadriceps femoris	UBERON:0001377	48.84	gold quality
left testis	UBERON:0004533	48.43	gold quality
upper leg skin	UBERON:0004262	48.04	gold quality
tendon	UBERON:0000043	47.79	silver quality
testis	UBERON:0000473	47.51	gold quality
nasal cavity epithelium	UBERON:0005384	47.03	gold quality
right testis	UBERON:0004534	46.46	gold quality
middle temporal gyrus	UBERON:0002771	46.04	gold quality
vastus lateralis	UBERON:0001379	45.95	gold quality
layer of synovial tissue	UBERON:0007616	43.55	gold quality
bone marrow cell	CL:0002092	43.41	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
tonsil	UBERON:0002372	42.16	gold quality
oviduct epithelium	UBERON:0004804	41.57	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.80

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or52d1	ENSMUSG00000073931
rattus_norvegicus	Or52d1	ENSRNOG00000016993

Paralogs (51): OR51E2 (ENSG00000167332), OR51B5 (ENSG00000167355), OR51I1 (ENSG00000167359), OR51Q1 (ENSG00000167360), OR52A5 (ENSG00000171944), OR52W1 (ENSG00000175485), OR51B6 (ENSG00000176239), OR51V1 (ENSG00000176742), OR52E2 (ENSG00000176787), OR51L1 (ENSG00000176798), OR51G2 (ENSG00000176893), OR51A7 (ENSG00000176895), OR51T1 (ENSG00000176900), OR51S1 (ENSG00000176922), OR51F2 (ENSG00000176925), OR51E1 (ENSG00000180785), OR56B4 (ENSG00000180919), OR52E4 (ENSG00000180974), OR52N2 (ENSG00000180988), OR52N1 (ENSG00000181001), OR52N5 (ENSG00000181009), OR56B2 (ENSG00000181017), OR56B1 (ENSG00000181023), OR52N4 (ENSG00000181074), OR52P1 (ENSG00000181109), OR52H1 (ENSG00000181616), OR52K2 (ENSG00000181963), OR52A1 (ENSG00000182070), OR51B4 (ENSG00000183251), OR52E8 (ENSG00000183269), OR52L1 (ENSG00000183313), OR51M1 (ENSG00000184698), OR52B6 (ENSG00000187747), OR51I2 (ENSG00000187918), OR52K1 (ENSG00000196778), OR51D1 (ENSG00000197428), OR51C1 (ENSG00000197674), OR52M1 (ENSG00000197790), OR52E6 (ENSG00000205409), OR52J3 (ENSG00000205495)

Protein

Protein identifiers

Olfactory receptor 52D1 — Q9H346 (reviewed: Q9H346)

Alternative names: Odorant receptor HOR5’beta14, Olfactory receptor OR11-43

All UniProt accessions (2): A0A126GVG9, Q9H346

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_001005163* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050402	OR51/52/56-like	Family

Pfam: PF13853

UniProt features (23 total): topological domain 8, transmembrane region 7, sequence variant 5, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H346-F1	88.24	0.66

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): 100–192

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: 21 (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, PAX3_TARGET_GENES, REACTOME_OLFACTORY_SIGNALING_PATHWAY, ANDERSON_BLOOD_CN54GP140_ADJUVANTED_WITH_GLA_AF_AGE_18_45YO_1DY_UP, REACTOME_SENSORY_PERCEPTION, GSE29614_CTRL_VS_TIV_FLU_VACCINE_PBMC_2007_UP

GO Biological Process (5): sensory perception of smell (GO:0007608), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), nervous system process (GO:0050877), 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
system process	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

204 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR52D1	OR1G1	P47890	474
OR52D1	DEFB124	Q8NES8	410
OR52D1	UBQLN3	Q9H347	400
OR52D1	RASL12	Q9NYN1	371
OR52D1	CHST13	Q8NET6	365
OR52D1	TMEM256	Q8N2U0	360
OR52D1	GNG10	P50151	344
OR52D1	HMGCLL1	Q8TB92	336
OR52D1	PROZ	P22891	325
OR52D1	LVRN	Q6Q4G3	325
OR52D1	CHRNA7	P36544	321
OR52D1	GALNT13	Q8IUC8	310
OR52D1	RPL10L	Q96L21	308
OR52D1	MINPP1	Q9UNW1	298
OR52D1	TAAR5	O14804	292
OR52D1	TAAR1	Q96RJ0	292

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A3B3IT45, A6NGY5, O88628, P0C646, Q6IFG1, Q8NGF0, Q8NGF1, Q8NGF3, Q8NGH6, Q8NGH7, Q8NGH9, Q8NGI0, Q8NGI2, Q8NGJ2, Q8NGJ3, Q8NGJ4, Q8NGJ5, Q8NGJ6, Q8NGJ7, Q8NGJ9, Q8NGK1, Q8NGK2, Q8NGK3, Q8NGK4, Q8NGK5, Q8NGK6, Q8NH53, Q8NH55, Q8NH56, Q8NH57, Q8NH59, Q8NH60, Q8NH61, Q8NH63, Q8NH64, Q8TCB6, Q8VBV9, Q96RD2, Q96RD3, Q9H255

Diamond homologs: A0A3B3IT45, A4D2G3, A6NF89, A6NGY5, A6NL08, A6NL26, A6NMU1, A6NND4, O88628, P0C629, P0C646, P0C7N1, P0C7T3, P23266, P23273, P23274, P30954, Q13606, Q60888, Q62007, Q6IF63, Q6IFG1, Q6W049, Q8NGA6, Q8NGF0, Q8NGF1, Q8NGF3, Q8NGG8, Q8NGH5, Q8NGH6, Q8NGH7, Q8NGH8, Q8NGH9, Q8NGI0, Q8NGI1, Q8NGI2, Q8NGI3, Q8NGI7, Q8NGJ2, Q8NGJ3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

294 predictions. Top by Δscore:

Variant	Effect	Δscore
11:5489388:GTCT:G	acceptor_gain	0.7800
11:5489507:T:TA	acceptor_gain	0.7800
11:5488729:A:AG	donor_gain	0.7600
11:5489496:A:AG	acceptor_gain	0.7500
11:5489558:T:G	acceptor_gain	0.7500
11:5488726:G:GG	donor_gain	0.7300
11:5488725:A:AG	donor_gain	0.7200
11:5489384:TGCA:T	acceptor_loss	0.7200
11:5489385:GCA:G	acceptor_loss	0.7200
11:5489386:CA:C	acceptor_loss	0.7200
11:5489387:AGTC:A	acceptor_loss	0.7200
11:5489502:C:A	acceptor_gain	0.7200
11:5489388:GTC:G	acceptor_gain	0.7100
11:5489497:C:G	acceptor_gain	0.7000
11:5489500:A:AG	acceptor_gain	0.7000
11:5489388:GT:G	acceptor_gain	0.6900
11:5489500:ACC:A	acceptor_gain	0.6900
11:5488763:G:T	donor_gain	0.6800
11:5489387:A:AG	acceptor_gain	0.6800
11:5489388:G:GG	acceptor_gain	0.6800
11:5489408:T:TA	acceptor_gain	0.6700
11:5489594:T:TA	acceptor_gain	0.6700
11:5489427:C:G	donor_gain	0.6500
11:5489427:C:CG	donor_gain	0.6400
11:5489596:G:C	acceptor_gain	0.6400
11:5489383:AT:A	acceptor_gain	0.6200
11:5489384:T:G	acceptor_gain	0.6100
11:5488888:C:G	donor_gain	0.6000
11:5489369:T:TA	acceptor_gain	0.6000
11:5489384:T:TA	acceptor_gain	0.6000

AlphaMissense

2070 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:5489169:A:C	S155R	0.963
11:5489171:T:A	S155R	0.963
11:5489171:T:G	S155R	0.963
11:5489300:T:A	N198K	0.956
11:5489300:T:G	N198K	0.956
11:5488935:A:C	S77R	0.953
11:5488937:T:A	S77R	0.953
11:5488937:T:G	S77R	0.953
11:5489466:T:C	F254L	0.941
11:5489468:C:A	F254L	0.941
11:5489468:C:G	F254L	0.941
11:5488756:T:C	L17S	0.938
11:5489019:T:C	F105L	0.937
11:5489021:T:A	F105L	0.937
11:5489021:T:G	F105L	0.937
11:5489505:T:C	F267L	0.932
11:5489507:T:A	F267L	0.932
11:5489507:T:G	F267L	0.932
11:5489490:T:C	F262L	0.914
11:5489492:C:A	F262L	0.914
11:5489492:C:G	F262L	0.914
11:5488765:T:C	I20T	0.910
11:5489250:T:A	C182S	0.905
11:5489251:G:C	C182S	0.905
11:5489269:C:A	A188D	0.899
11:5489022:T:C	C106R	0.894
11:5489423:A:C	K239N	0.894
11:5489423:A:T	K239N	0.894
11:5489310:G:T	G202W	0.893
11:5489004:T:A	C100S	0.886

dbSNP variants (sampled 300 via entrez): RS1000283588 (11:5489486 C>T), RS1000447591 (11:5489258 T>A,C), RS1000969699 (11:5487994 T>A), RS1001086532 (11:5487803 C>G,T), RS1003637651 (11:5487291 G>C), RS1004873779 (11:5490008 GAAA>G), RS1005334550 (11:5489954 G>A), RS1006228463 (11:5487240 A>G), RS1007448240 (11:5488589 T>TC), RS1007500859 (11:5488370 T>C,G), RS1008683272 (11:5487657 G>T), RS1011412960 (11:5487118 G>A), RS1012254355 (11:5487795 T>C), RS1012512741 (11:5487171 G>C,T), RS1013467896 (11:5488484 T>C)

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
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Atrazine	increases expression	1
Benzo(a)pyrene	increases methylation	1
Cadmium	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.