OR52E4

Summary

OR52E4 (olfactory receptor family 52 subfamily E member 4, HGNC:15213) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 52E4 (Q8NGH9). 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 390081 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 63 total
• MANE Select transcript: NM_001005165

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15213
Approved symbol	OR52E4
Name	olfactory receptor family 52 subfamily E member 4
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000180974
Ensembl biotype	protein_coding
Entrez	390081

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000641726

RefSeq mRNA: 1 — MANE Select: NM_001005165 NM_001005165

CCDS: CCDS31401

Canonical transcript exons

ENST00000641726 — 2 exons

Exon	Start	End
ENSE00003811718	5884219	5887079
ENSE00003812845	5880629	5880714

Expression profiles

Bgee: expression breadth tissue_specific, 3 present calls, max score 73.70.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	73.70	gold quality
calcaneal tendon	UBERON:0003701	42.97	gold quality
colonic epithelium	UBERON:0000397	41.44	gold quality
bone marrow cell	CL:0002092	41.06	gold quality
ventricular zone	UBERON:0003053	39.82	gold quality
sural nerve	UBERON:0015488	39.71	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow	UBERON:0002371	36.42	gold quality
monocyte	CL:0000576	35.73	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	35.03	gold quality
leukocyte	CL:0000738	35.00	gold quality
apex of heart	UBERON:0002098	34.68	gold quality
muscle tissue	UBERON:0002385	33.29	gold quality
placenta	UBERON:0001987	32.89	silver quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
corpus callosum	UBERON:0002336	31.99	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.37	gold quality
descending thoracic aorta	UBERON:0002345	29.35	gold quality
liver	UBERON:0002107	28.99	gold quality
blood	UBERON:0000178	28.77	gold quality
gall bladder	UBERON:0002110	28.44	gold quality
duodenum	UBERON:0002114	28.14	gold quality
urinary bladder	UBERON:0001255	27.63	gold quality
lymph node	UBERON:0000029	27.57	gold quality
islet of Langerhans	UBERON:0000006	27.56	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	27.35	gold quality
tonsil	UBERON:0002372	27.05	gold quality
muscle of leg	UBERON:0001383	26.86	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.79

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or52e4	ENSMUSG00000073914
rattus_norvegicus	Or52e4	ENSRNOG00000017351

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), OR52N2 (ENSG00000180988), OR52N1 (ENSG00000181001), OR52N5 (ENSG00000181009), OR56B2 (ENSG00000181017), OR56B1 (ENSG00000181023), OR52N4 (ENSG00000181074), OR52P1 (ENSG00000181109), OR52D1 (ENSG00000181609), 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 52E4 — Q8NGH9 (reviewed: Q8NGH9)

Alternative names: Olfactory receptor OR11-55

All UniProt accessions (1): Q8NGH9

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_001005165* (*=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 (24 total): topological domain 8, transmembrane region 7, sequence variant 6, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGH9-F1	88.88	0.59

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): 99–191

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: 16 (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, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY, chr11p15

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

254 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR52E4	SPIDR	Q14159	545
OR52E4	ZNF679	Q8IYX0	535
OR52E4	POMK	Q9H5K3	521
OR52E4	HGSNAT	Q68CP4	495
OR52E4	FNTA	P49354	493
OR52E4	HOOK3	Q86VS8	491
OR52E4	ZNF736	B4DX44	486
OR52E4	CCDC63	Q8NA47	482
OR52E4	SPATA31F1	Q6ZU69	480
OR52E4	ACAD10	Q6JQN1	478
OR52E4	ZNF735	P0CB33	469
OR52E4	TRIM60	Q495X7	463
OR52E4	ZNF680	Q8NEM1	462
OR52E4	ZNF860	A6NHJ4	432
OR52E4	MCM4	P33991	418
OR52E4	HHIPL2	Q6UWX4	418

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	63
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

296 predictions. Top by Δscore:

Variant	Effect	Δscore
11:5884355:A:T	donor_gain	0.8300
11:5884288:G:GT	donor_gain	0.7700
11:5884963:GAGCT:G	acceptor_gain	0.7700
11:5884962:A:AG	acceptor_gain	0.7500
11:5884963:G:GG	acceptor_gain	0.7500
11:5884341:C:G	donor_gain	0.6500
11:5884542:C:G	donor_gain	0.6200
11:5884395:ATTG:A	donor_gain	0.6000
11:5884396:TTGT:T	donor_gain	0.6000
11:5884345:G:GT	donor_gain	0.5700
11:5884359:G:GT	donor_gain	0.5700
11:5884365:T:G	donor_gain	0.5500
11:5884420:GGAA:G	donor_gain	0.5500
11:5884585:G:T	donor_gain	0.5500
11:5884585:G:GT	donor_gain	0.5400
11:5884789:T:TA	acceptor_gain	0.5400
11:5884963:G:C	acceptor_gain	0.5400
11:5884546:G:GT	donor_gain	0.5300
11:5884963:GA:G	acceptor_gain	0.5300
11:5884949:T:G	acceptor_gain	0.5100
11:5884365:T:TG	donor_gain	0.4900
11:5884747:G:GT	donor_gain	0.4900
11:5884346:A:T	donor_gain	0.4700
11:5884421:GAA:G	donor_gain	0.4700
11:5884515:C:A	donor_gain	0.4700
11:5884518:T:TA	donor_gain	0.4700
11:5884987:A:C	acceptor_gain	0.4700
11:5884404:C:G	donor_gain	0.4600
11:5884419:GGGAA:G	donor_gain	0.4600
11:5884923:G:GT	donor_gain	0.4500

AlphaMissense

2066 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:5884800:T:C	F170L	0.946
11:5884802:C:A	F170L	0.946
11:5884802:C:G	F170L	0.946
11:5884476:T:C	F62L	0.922
11:5884478:C:A	F62L	0.922
11:5884478:C:G	F62L	0.922
11:5885085:T:C	F265L	0.908
11:5885087:T:A	F265L	0.908
11:5885087:T:G	F265L	0.908
11:5885046:T:C	F252L	0.902
11:5885048:T:A	F252L	0.902
11:5885048:T:G	F252L	0.902
11:5884602:T:C	F104L	0.876
11:5884604:C:A	F104L	0.876
11:5884604:C:G	F104L	0.876
11:5884578:T:C	F96L	0.871
11:5884580:T:A	F96L	0.871
11:5884580:T:G	F96L	0.871
11:5885070:T:C	F260L	0.868
11:5885072:T:A	F260L	0.868
11:5885072:T:G	F260L	0.868
11:5884392:T:C	C34R	0.860
11:5884883:C:A	N197K	0.859
11:5884883:C:G	N197K	0.859
11:5884389:T:C	F33L	0.848
11:5884391:C:A	F33L	0.848
11:5884391:C:G	F33L	0.848
11:5885143:T:A	V284D	0.844
11:5884652:G:A	M120I	0.842
11:5884652:G:C	M120I	0.842

dbSNP variants (sampled 300 via entrez): RS1000030596 (11:5879337 G>T), RS1000183543 (11:5886250 T>A), RS1000235808 (11:5886016 C>T), RS1000655872 (11:5880434 G>C), RS1001493775 (11:5881489 T>C), RS1001860919 (11:5887580 C>T), RS1001910323 (11:5887314 G>C), RS1001928692 (11:5882053 G>C), RS1002124110 (11:5887485 C>T), RS1002509812 (11:5882913 T>C), RS1002744926 (11:5884472 C>T), RS1003630929 (11:5883028 A>G), RS1004266849 (11:5886508 G>C), RS1004321964 (11:5882994 T>C), RS1004438306 (11:5883263 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

6 associations (top):

Study	Trait	p-value
GCST009879_9	Coronary artery disease	4.000000e-21
GCST010476_13	Myocardial infarction	2.000000e-12
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55
GCST010837_2	Intracerebral hemorrhage	2.000000e-06

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
2-palmitoylglycerol	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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