OR52E6

Summary

OR52E6 (olfactory receptor family 52 subfamily E member 6, HGNC:15215) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 52E6 (Q96RD3). 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 390078 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 53 total
• MANE Select transcript: NM_001005167

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15215
Approved symbol	OR52E6
Name	olfactory receptor family 52 subfamily E member 6
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000205409
Ensembl biotype	protein_coding
Entrez	390078

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000329322, ENST00000379946

RefSeq mRNA: 1 — MANE Select: NM_001005167 NM_001005167

CCDS: CCDS53597

Canonical transcript exons

ENST00000329322 — 1 exons

Exon	Start	End
ENSE00001318031	5840928	5841897

Expression profiles

Bgee: expression breadth tissue_specific, 3 present calls, max score 47.67.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	47.67	gold quality
granulocyte	CL:0000094	37.93	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
placenta	UBERON:0001987	35.94	silver quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	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
prefrontal cortex	UBERON:0000451	29.04	gold quality
duodenum	UBERON:0002114	28.14	gold quality
leukocyte	CL:0000738	28.12	gold quality
liver	UBERON:0002107	28.04	gold quality
right coronary artery	UBERON:0001625	27.88	gold quality
lymph node	UBERON:0000029	27.57	gold quality
monocyte	CL:0000576	27.51	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.97	gold quality
urinary bladder	UBERON:0001255	26.81	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
fundus of stomach	UBERON:0001160	26.26	silver quality
blood	UBERON:0000178	26.08	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
muscle of leg	UBERON:0001383	25.04	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	1.48

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), OR52E8 (ENSG00000183269), OR52L1 (ENSG00000183313), OR51M1 (ENSG00000184698), OR52B6 (ENSG00000187747), OR51I2 (ENSG00000187918), OR52K1 (ENSG00000196778), OR51D1 (ENSG00000197428), OR51C1 (ENSG00000197674), OR52M1 (ENSG00000197790), OR52J3 (ENSG00000205495)

Protein

Protein identifiers

Olfactory receptor 52E6 — Q96RD3 (reviewed: Q96RD3)

Alternative names: Olfactory receptor OR11-58

All UniProt accessions (3): A0A126GVK5, Q96RD3, J3KPH0

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_001005167* (*=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 (25 total): topological domain 8, sequence variant 8, transmembrane region 7, chain 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96RD3-F1	80.91	0.21

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

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: 19 (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, ZNF146_TARGET_GENES, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, ZHANG_FH_DEFICIENT_RCC_C2_VS_OTHERS_UP, GOBP_DETECTION_OF_CHEMICAL_STIMULUS

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

116 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR52E6	MAGEA6	P43360	431
OR52E6	MAGEC1	O60732	368
OR52E6	DMBT1	Q9UGM3	350
OR52E6	HS3ST3B1	Q9Y662	350
OR52E6	SLC30A9	Q6PML9	349
OR52E6	SPINT1	O43278	328
OR52E6	CYP3A43	Q9HB55	298
OR52E6	SLC51A	Q86UW1	268
OR52E6	DAP	P51397	253
OR52E6	CNGA2	Q16280	250
OR52E6	RTP1	P59025	249
OR52E6	MAGEA3	P43357	222
OR52E6	FNTA	P49354	213
OR52E6	HGSNAT	Q68CP4	213
OR52E6	OR5D16	Q8NGK9	213

IntAct

3 interactions, top by confidence:

A	B	Type	Score
	OR52E6	psi-mi:“MI:0915”(physical association)	0.560
OR52E6		psi-mi:“MI:0915”(physical association)	0.000

BioGRID (1): GOLGA8K (Two-hybrid)

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	49
Likely benign	1
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

362 predictions. Top by Δscore:

Variant	Effect	Δscore
11:5841603:AG:A	donor_gain	0.7600
11:5841526:G:C	donor_gain	0.6700
11:5841617:ATTT:A	donor_gain	0.6600
11:5841201:C:A	donor_gain	0.6500
11:5841591:T:TA	donor_gain	0.6400
11:5841621:C:A	donor_gain	0.6400
11:5841716:A:C	donor_gain	0.6400
11:5841266:T:TA	donor_gain	0.6300
11:5841356:CAGTA:C	donor_gain	0.6300
11:5841544:C:CT	donor_gain	0.6300
11:5841620:T:A	donor_gain	0.6300
11:5841300:A:C	donor_gain	0.6100
11:5841352:CTCA:C	donor_loss	0.6100
11:5841353:TCACA:T	donor_loss	0.6100
11:5841354:CACA:C	donor_loss	0.6100
11:5841355:ACA:A	donor_loss	0.6100
11:5841560:T:A	donor_gain	0.6100
11:5841349:GTGCT:G	donor_loss	0.6000
11:5841350:TGCT:T	donor_loss	0.6000
11:5841351:GC:G	donor_loss	0.6000
11:5841607:T:TA	donor_gain	0.6000
11:5841711:A:AC	donor_gain	0.6000
11:5841200:T:TA	donor_gain	0.5900
11:5841348:TGTGC:T	donor_loss	0.5800
11:5841543:C:CT	donor_gain	0.5700
11:5841827:T:C	donor_gain	0.5700
11:5841016:CCCA:C	acceptor_gain	0.5600
11:5841032:T:TC	acceptor_gain	0.5600
11:5841107:CAGTG:C	acceptor_gain	0.5600
11:5841356:CAGT:C	donor_gain	0.5600

AlphaMissense

2085 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:5841388:G:C	F170L	0.726
11:5841388:G:T	F170L	0.726
11:5841390:A:G	F170L	0.726
11:5841142:A:C	F252L	0.703
11:5841142:A:T	F252L	0.703
11:5841144:A:G	F252L	0.703
11:5841856:G:C	F14L	0.662
11:5841856:G:T	F14L	0.662
11:5841858:A:G	F14L	0.662
11:5841103:A:C	F265L	0.613
11:5841103:A:T	F265L	0.613
11:5841105:A:G	F265L	0.613
11:5841586:G:C	F104L	0.611
11:5841586:G:T	F104L	0.611
11:5841588:A:G	F104L	0.611
11:5841799:A:C	F33L	0.576
11:5841799:A:T	F33L	0.576
11:5841801:A:G	F33L	0.576
11:5841610:A:C	F96L	0.565
11:5841610:A:T	F96L	0.565
11:5841612:A:G	F96L	0.565

dbSNP variants (sampled 300 via entrez): RS1000195468 (11:5841776 A>C), RS1001553966 (11:5842624 C>T), RS1001918432 (11:5843341 G>A,C,T), RS1001970790 (11:5843083 T>A), RS1002514621 (11:5843845 G>A), RS1002776293 (11:5843550 T>C), RS1003148411 (11:5840515 T>A), RS1005456236 (11:5842664 G>A), RS1006663895 (11:5843198 C>A,G), RS1006725817 (11:5842481 ATTTC>A), RS1008396484 (11:5843627 G>A), RS1008518083 (11:5840578 C>T), RS1009224093 (11:5843402 A>G), RS1009751082 (11:5843615 CAG>C), RS1010343312 (11:5842468 ATATTTAT>A)

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
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	increases methylation	1
Lactic Acid	increases expression	1

Clinical trials (associated diseases)

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