OR52J3

Summary

OR52J3 (olfactory receptor family 52 subfamily J member 3, HGNC:14799) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 52J3 (Q8NH60). 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 119679 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 64 total
• MANE Select transcript: NM_001001916

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14799
Approved symbol	OR52J3
Name	olfactory receptor family 52 subfamily J member 3
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000205495
Ensembl biotype	protein_coding
Entrez	119679

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000380370

RefSeq mRNA: 1 — MANE Select: NM_001001916 NM_001001916

CCDS: CCDS31370

Canonical transcript exons

ENST00000380370 — 1 exons

Exon	Start	End
ENSE00001484673	5046526	5047461

Expression profiles

Bgee: expression breadth not_expressed, 0 present calls, max score 42.49.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	42.49	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
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
liver	UBERON:0002107	28.31	gold quality
duodenum	UBERON:0002114	28.14	gold quality
monocyte	CL:0000576	27.61	gold quality
leukocyte	CL:0000738	27.61	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
urinary bladder	UBERON:0001255	26.87	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.33	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	25.08	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
frontal cortex	UBERON:0001870	23.97	gold quality
gastrocnemius	UBERON:0001388	23.91	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.31

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or52j3	ENSMUSG00000073956
rattus_norvegicus	Or52j3	ENSRNOG00000083152
rattus_norvegicus	Or52j3b	ENSRNOG00000087916

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), OR52E6 (ENSG00000205409)

Protein

Protein identifiers

Olfactory receptor 52J3 — Q8NH60 (reviewed: Q8NH60)

Alternative names: Olfactory receptor OR11-32

All UniProt accessions (1): Q8NH60

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_001001916* (*=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 (22 total): topological domain 8, transmembrane region 7, sequence variant 4, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NH60-F1	87.63	0.60

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: 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, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY, TGCCAAR_NF1_Q6

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

222 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR52J3	PRR35	P0CG20	694
OR52J3	HTR4	Q13639	497
OR52J3	MB21D2	Q8IYB1	419
OR52J3	OPN1MW2	P0DN77	373
OR52J3	TAS2R1	Q9NYW7	314
OR52J3	NPY4R2	P0DQD5	300
OR52J3	HAPLN4	Q86UW8	295
OR52J3	CPA3	P15088	290
OR52J3	ZNF514	Q96K75	275
OR52J3	CAPN8	A6NHC0	275
OR52J3	CPA4	Q9UI42	271
OR52J3	GABRR1	P24046	270
OR52J3	PPP2R5D	Q14738	260
OR52J3	OPN3	Q9H1Y3	249
OR52J3	SYNPR	Q8TBG9	248

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	59
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

210 predictions. Top by Δscore:

Variant	Effect	Δscore
11:5047207:C:CA	acceptor_gain	0.6800
11:5047182:T:G	acceptor_gain	0.6300
11:5047197:T:TA	acceptor_gain	0.5900
11:5047220:AT:A	acceptor_gain	0.5900
11:5047160:T:TA	acceptor_gain	0.5800
11:5046677:TCAAG:T	donor_loss	0.5600
11:5046678:CAAG:C	donor_loss	0.5600
11:5046679:AAGGT:A	donor_loss	0.5600
11:5046680:AG:A	donor_loss	0.5600
11:5046681:G:GA	donor_loss	0.5600
11:5046682:GT:G	donor_loss	0.5600
11:5046683:T:A	donor_loss	0.5600
11:5047189:A:AG	acceptor_gain	0.5600
11:5046976:G:GG	donor_gain	0.5500
11:5046588:TCTGG:T	donor_gain	0.5400
11:5046592:G:GT	donor_gain	0.5400
11:5047195:C:A	acceptor_gain	0.5400
11:5046775:C:G	donor_gain	0.5300
11:5047221:T:G	acceptor_gain	0.5200
11:5046772:ATGCT:A	acceptor_gain	0.5000
11:5047157:ACCT:A	acceptor_gain	0.5000
11:5047190:T:G	acceptor_gain	0.5000
11:5047220:A:AG	acceptor_gain	0.5000
11:5047221:T:TA	acceptor_gain	0.5000
11:5046684:A:C	donor_loss	0.4900
11:5047188:C:G	acceptor_gain	0.4900
11:5047200:T:A	acceptor_gain	0.4900
11:5047403:ATGG:A	acceptor_gain	0.4900
11:5046975:T:TG	donor_gain	0.4800
11:5047231:C:G	donor_gain	0.4800

AlphaMissense

2029 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:5047033:T:C	F170L	0.942
11:5047035:T:A	F170L	0.942
11:5047035:T:G	F170L	0.942
11:5046709:T:C	F62L	0.933
11:5046711:C:A	F62L	0.933
11:5046711:C:G	F62L	0.933
11:5047318:T:C	F265L	0.931
11:5047320:T:A	F265L	0.931
11:5047320:T:G	F265L	0.931
11:5047279:T:C	F252L	0.926
11:5047281:C:A	F252L	0.926
11:5047281:C:G	F252L	0.926
11:5046835:T:C	F104L	0.914
11:5046837:T:A	F104L	0.914
11:5046837:T:G	F104L	0.914
11:5047303:T:C	F260L	0.909
11:5047305:C:A	F260L	0.909
11:5047305:C:G	F260L	0.909
11:5046625:T:C	C34R	0.895
11:5046565:T:C	F14L	0.884
11:5046567:T:A	F14L	0.884
11:5046567:T:G	F14L	0.884
11:5046822:T:G	C99W	0.871
11:5047297:T:C	F258L	0.869
11:5047299:C:A	F258L	0.869
11:5047299:C:G	F258L	0.869
11:5047116:T:A	N197K	0.867
11:5047116:T:G	N197K	0.867
11:5046831:G:C	Q102H	0.866
11:5046831:G:T	Q102H	0.866

dbSNP variants (sampled 300 via entrez): RS1001374563 (11:5046027 G>A), RS1001458110 (11:5045452 T>C), RS1001510107 (11:5046225 G>A), RS1002513091 (11:5045122 A>G), RS1004050912 (11:5044690 T>C), RS1004140897 (11:5045093 C>G), RS1005860980 (11:5047340 A>G), RS1007420437 (11:5047001 T>G), RS1007481196 (11:5047181 A>G,T), RS1009815795 (11:5045424 C>A), RS1010260536 (11:5045145 T>A,C), RS1012417518 (11:5046648 G>C,T), RS1012847725 (11:5045707 C>G,T), RS1013088578 (11:5047558 C>A,T), RS1013682121 (11:5047757 G>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
rs2499984	Efficacy	3	lithium	Bipolar Disorder

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2499984	OR52J2P, OR52J3	3	2.50	1	lithium

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	affects methylation, decreases methylation	1
Tobacco Smoke Pollution	affects expression	1

Clinical trials (associated diseases)

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