OR52E8

Summary

OR52E8 (olfactory receptor family 52 subfamily E member 8, HGNC:15217) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 52E8 (Q6IFG1). 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 390079 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 56 total
• MANE Select transcript: NM_001005168

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15217
Approved symbol	OR52E8
Name	olfactory receptor family 52 subfamily E member 8
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000183269
Ensembl biotype	protein_coding
Entrez	390079

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000537935

RefSeq mRNA: 1 — MANE Select: NM_001005168 NM_001005168

CCDS: CCDS31400

Canonical transcript exons

ENST00000537935 — 1 exons

Exon	Start	End
ENSE00003989333	5856749	5857690

Expression profiles

Bgee: expression breadth tissue_specific, 2 present calls, max score 85.60.

Top tissues by expression

125 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	85.60	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	53.18	gold quality
granulocyte	CL:0000094	42.62	silver quality
bone marrow cell	CL:0002092	38.33	gold 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
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
bone marrow	UBERON:0002371	32.85	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
tonsil	UBERON:0002372	28.78	gold quality
liver	UBERON:0002107	28.66	gold quality
duodenum	UBERON:0002114	28.14	gold quality
leukocyte	CL:0000738	27.87	gold quality
lymph node	UBERON:0000029	27.57	gold quality
superior frontal gyrus	UBERON:0002661	27.19	gold quality
monocyte	CL:0000576	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
blood	UBERON:0000178	26.42	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
urinary bladder	UBERON:0001255	25.72	gold quality
muscle of leg	UBERON:0001383	25.10	gold quality
primary visual cortex	UBERON:0002436	24.61	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	Or52e8	ENSMUSG00000094531
mus_musculus	Or52e8b	ENSMUSG00000096773
rattus_norvegicus	Or52e8b	ENSRNOG00000017341
rattus_norvegicus	Or52e8	ENSRNOG00000033813

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), OR52D1 (ENSG00000181609), OR52H1 (ENSG00000181616), OR52K2 (ENSG00000181963), OR52A1 (ENSG00000182070), OR51B4 (ENSG00000183251), 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 52E8 — Q6IFG1 (reviewed: Q6IFG1)

Alternative names: Olfactory receptor OR11-54

All UniProt accessions (1): Q6IFG1

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor.

Subcellular location. Membrane.

Similarity. Belongs to the G-protein coupled receptor 1 family.

RefSeq proteins (1): NP_001005168* (*=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 (18 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6IFG1-F1	88.27	0.61

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): 99–181

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: 18 (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, FOURATI_BLOOD_TWINRIX_AGE_25_83YO_RESPONDERS_VS_POOR_RESPONDERS_0DY_DN, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY

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

236 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR52E8	VN1R4	Q7Z5H5	570
OR52E8	VN1R2	Q8NFZ6	541
OR52E8	SLC30A9	Q6PML9	499
OR52E8	CYP3A43	Q9HB55	498
OR52E8	HS3ST3B1	Q9Y662	496
OR52E8	VN1R1	Q9GZP7	471
OR52E8	SLC51A	Q86UW1	451
OR52E8	TAS2R4	Q9NYW5	447
OR52E8	DMBT1	Q9UGM3	447
OR52E8	DAP	P51397	381
OR52E8	CNGA2	Q16280	373
OR52E8	TAS2R13	Q9NYV9	370
OR52E8	TAS2R5	Q9NYW4	348
OR52E8	CNGA4	Q8IV77	348
OR52E8	TAS2R31	P59538	348
OR52E8	TAS2R50	P59544	348

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	52
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

376 predictions. Top by Δscore:

Variant	Effect	Δscore
11:5857034:A:C	acceptor_gain	0.8200
11:5857642:G:C	donor_gain	0.7700
11:5856994:C:A	donor_gain	0.7300
11:5857029:C:CC	acceptor_gain	0.7200
11:5857034:A:AC	acceptor_gain	0.7200
11:5856993:T:TA	donor_gain	0.7000
11:5857602:C:CA	donor_gain	0.6900
11:5856964:C:CT	donor_gain	0.6700
11:5856827:GAGGG:G	acceptor_gain	0.6600
11:5856946:TAAC:T	donor_gain	0.6500
11:5856947:AACA:A	donor_gain	0.6500
11:5857027:TC:T	acceptor_gain	0.6400
11:5857028:CC:C	acceptor_gain	0.6400
11:5857055:AACAT:A	donor_gain	0.6300
11:5857620:T:C	donor_gain	0.6300
11:5857641:A:AC	donor_gain	0.6300
11:5856806:GACTC:G	acceptor_gain	0.6200
11:5856949:C:CT	donor_gain	0.6200
11:5856957:TGAGA:T	donor_gain	0.6200
11:5857026:ATCC:A	acceptor_loss	0.6200
11:5857029:CTGA:C	acceptor_loss	0.6200
11:5857030:T:C	acceptor_loss	0.6200
11:5857626:AGC:A	donor_gain	0.6200
11:5856829:GGG:G	acceptor_gain	0.6100
11:5856909:A:T	acceptor_gain	0.6100
11:5856963:C:CG	donor_gain	0.6100
11:5857033:CA:C	acceptor_gain	0.6100
11:5857641:AG:A	donor_gain	0.6100
11:5856904:G:C	acceptor_gain	0.6000
11:5856948:A:AT	donor_gain	0.6000

AlphaMissense

2086 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:5857181:G:C	F174L	0.867
11:5857181:G:T	F174L	0.867
11:5857183:A:G	F174L	0.867
11:5856896:A:C	F269L	0.853
11:5856896:A:T	F269L	0.853
11:5856898:A:G	F269L	0.853
11:5856935:A:C	F256L	0.849
11:5856935:A:T	F256L	0.849
11:5856937:A:G	F256L	0.849
11:5857349:G:C	S118R	0.809
11:5857349:G:T	S118R	0.809
11:5857351:T:G	S118R	0.809
11:5856911:G:C	F264L	0.808
11:5856911:G:T	F264L	0.808
11:5856913:A:G	F264L	0.808
11:5857649:G:C	F18L	0.800
11:5857649:G:T	F18L	0.800
11:5857651:A:G	F18L	0.800
11:5857229:G:C	S158R	0.791
11:5857229:G:T	S158R	0.791
11:5857231:T:G	S158R	0.791
11:5857403:A:C	F100L	0.781
11:5857403:A:T	F100L	0.781
11:5857405:A:G	F100L	0.781
11:5857379:G:C	F108L	0.773
11:5857379:G:T	F108L	0.773
11:5857381:A:G	F108L	0.773
11:5857091:A:C	F204L	0.758
11:5857091:A:T	F204L	0.758
11:5857093:A:G	F204L	0.758

dbSNP variants (sampled 300 via entrez): RS1000555315 (11:5858970 G>A), RS1000752539 (11:5858719 C>T), RS1002017393 (11:5859171 G>A), RS1004377768 (11:5858632 A>G), RS1005561161 (11:5859617 G>A), RS1008202318 (11:5856502 G>A), RS1008770361 (11:5857312 C>G,T), RS1009863696 (11:5859138 A>T), RS1011292042 (11:5856427 T>C), RS1012628854 (11:5859316 G>A,T), RS1012850643 (11:5856542 C>T), RS1014551169 (11:5858175 T>A), RS1015122869 (11:5858388 C>G), RS1015714593 (11:5859622 T>C), RS1017404081 (11:5858258 T>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

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

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol S	decreases methylation	1
Benzo(a)pyrene	affects methylation	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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