OR52E2

Summary

OR52E2 (olfactory receptor family 52 subfamily E member 2, HGNC:14769) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 52E2 (Q8NGJ4). 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 119678 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 68 total
• MANE Select transcript: NM_001005164

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14769
Approved symbol	OR52E2
Name	olfactory receptor family 52 subfamily E member 2
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000176787
Ensembl biotype	protein_coding
Entrez	119678

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000321522

RefSeq mRNA: 1 — MANE Select: NM_001005164 NM_001005164

CCDS: CCDS31371

Canonical transcript exons

ENST00000321522 — 1 exons

Exon	Start	End
ENSE00001282010	5058650	5059627

Expression profiles

Bgee: expression breadth tissue_specific, 1 present calls, max score 84.21.

Top tissues by expression

131 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	84.21	gold quality
granulocyte	CL:0000094	37.62	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
bone marrow cell	CL:0002092	36.16	gold 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
leukocyte	CL:0000738	29.35	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
monocyte	CL:0000576	28.87	gold quality
liver	UBERON:0002107	28.32	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
superior frontal gyrus	UBERON:0002661	27.32	gold quality
tonsil	UBERON:0002372	27.05	gold quality
urinary bladder	UBERON:0001255	26.89	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.19	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
muscle of leg	UBERON:0001383	24.90	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	1.15

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or52e2	ENSMUSG00000051362
rattus_norvegicus	Or52e2	ENSRNOG00000015769

Paralogs (51): OR51E2 (ENSG00000167332), OR51B5 (ENSG00000167355), OR51I1 (ENSG00000167359), OR51Q1 (ENSG00000167360), OR52A5 (ENSG00000171944), OR52W1 (ENSG00000175485), OR51B6 (ENSG00000176239), OR51V1 (ENSG00000176742), 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), OR52E6 (ENSG00000205409), OR52J3 (ENSG00000205495)

Protein

Protein identifiers

Olfactory receptor 52E2 — Q8NGJ4 (reviewed: Q8NGJ4)

All UniProt accessions (1): Q8NGJ4

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_001005164* (*=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 (21 total): topological domain 8, transmembrane region 7, sequence variant 3, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGJ4-F1	85.89	0.51

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: 17 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, RAY_TUMORIGENESIS_BY_ERBB2_CDC25A_UP, 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

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

106 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR52E2	HS3ST5	Q8IZT8	470
OR52E2	EML1	O00423	450
OR52E2	TAS2R1	Q9NYW7	423
OR52E2	HS3ST6	Q96QI5	404
OR52E2	TDRKH	Q9Y2W6	375
OR52E2	GRM8	O00222	264
OR52E2	GRM7	Q14831	254
OR52E2	UNC79	Q9P2D8	214
OR52E2	OR4K17	Q8NGC6	212
OR52E2	CHRNA5	P30532	198
OR52E2	SMN1	Q16637	198
OR52E2	ASPA	P45381	194
OR52E2	OR4D11	Q8NGI4	194
OR52E2	OR4D6	Q8NGJ1	193
OR52E2	OR4D10	Q8NGI6	183

IntAct

0 interactions, top by confidence:

BioGRID (1): ZBTB21 (Cross-Linking-MS (XL-MS))

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	63
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

199 predictions. Top by Δscore:

Variant	Effect	Δscore
11:5059256:G:C	donor_gain	0.7100
11:5059499:C:A	donor_gain	0.6900
11:5058932:A:C	acceptor_gain	0.6500
11:5058965:A:C	acceptor_gain	0.6400
11:5058945:C:CT	acceptor_gain	0.6200
11:5058953:A:T	acceptor_gain	0.5900
11:5059412:A:C	donor_gain	0.5900
11:5058931:C:CT	acceptor_gain	0.5700
11:5058936:G:GC	acceptor_gain	0.5600
11:5059410:A:AC	donor_gain	0.5600
11:5059411:C:CC	donor_gain	0.5600
11:5058955:C:CT	acceptor_gain	0.5400
11:5059476:A:AC	donor_gain	0.5300
11:5059164:AAAGC:A	donor_gain	0.5200
11:5058890:CA:C	donor_gain	0.5000
11:5059321:T:TA	donor_gain	0.5000
11:5059408:C:T	donor_gain	0.5000
11:5058900:C:CT	donor_gain	0.4900
11:5059202:A:AT	donor_gain	0.4900
11:5059395:G:C	donor_gain	0.4900
11:5058936:G:C	acceptor_gain	0.4800
11:5058779:C:CT	acceptor_gain	0.4700
11:5058889:A:AC	donor_gain	0.4700
11:5058890:C:CC	donor_gain	0.4700
11:5059349:C:CA	donor_gain	0.4700
11:5059411:CAT:C	donor_gain	0.4700
11:5059498:T:TA	donor_gain	0.4700
11:5058924:CGGG:C	acceptor_gain	0.4600
11:5058946:G:T	acceptor_gain	0.4500
11:5059201:C:CT	donor_gain	0.4500

AlphaMissense

2147 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:5059581:A:G	L16S	0.846
11:5059118:G:C	F170L	0.839
11:5059118:G:T	F170L	0.839
11:5059120:A:G	F170L	0.839
11:5059442:G:C	F62L	0.817
11:5059442:G:T	F62L	0.817
11:5059444:A:G	F62L	0.817
11:5059367:G:C	F87L	0.793
11:5059367:G:T	F87L	0.793
11:5059369:A:G	F87L	0.793
11:5059586:G:C	F14L	0.783
11:5059586:G:T	F14L	0.783
11:5059588:A:G	F14L	0.783
11:5059366:A:G	W88R	0.781
11:5059366:A:T	W88R	0.781
11:5058833:A:C	F265L	0.777
11:5058833:A:T	F265L	0.777
11:5058835:A:G	F265L	0.777
11:5059529:G:C	F33L	0.714
11:5059529:G:T	F33L	0.714
11:5059531:A:G	F33L	0.714
11:5059386:G:T	P81H	0.707
11:5059377:A:T	L84H	0.698
11:5058848:A:C	F260L	0.681
11:5058848:A:T	F260L	0.681
11:5058850:A:G	F260L	0.681
11:5058872:G:C	F252L	0.681
11:5058872:G:T	F252L	0.681
11:5058874:A:G	F252L	0.681
11:5059368:A:G	F87S	0.673

dbSNP variants (sampled 300 via entrez): RS1000070142 (11:5059858 T>C), RS1002036719 (11:5060525 G>A,C), RS1002536169 (11:5060775 A>G), RS1003129031 (11:5059626 A>G), RS1004634666 (11:5059274 C>T), RS1004788977 (11:5059550 G>A,C,T), RS1008305645 (11:5061450 A>G), RS1009398848 (11:5060450 T>C), RS1011362382 (11:5058823 C>A,T), RS1011392111 (11:5058605 T>A), RS1012813035 (11:5058197 T>A), RS1014993852 (11:5060536 C>T), RS1016097226 (11:5059091 G>A,C), RS1017425426 (11:5058827 T>C), RS1019158150 (11:5059877 C>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)

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs16909440	Efficacy	3	lithium	Bipolar Disorder

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs16909440	OR52E1, OR52E2	3	2.50	1	lithium

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation	1
Valproic Acid	decreases methylation	1

Clinical trials (associated diseases)

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