OR52N4

Summary

OR52N4 (olfactory receptor family 52 subfamily N member 4, HGNC:15230) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 52N4 (Q8NGI2). 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 390072 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 104 total
• MANE Select transcript: NM_001005175

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15230
Approved symbol	OR52N4
Name	olfactory receptor family 52 subfamily N member 4
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000181074
Ensembl biotype	protein_coding
Entrez	390072

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000641350

RefSeq mRNA: 1 — MANE Select: NM_001005175 NM_001005175

CCDS: CCDS44528

Canonical transcript exons

ENST00000641350 — 2 exons

Exon	Start	End
ENSE00003812484	5754693	5755958
ENSE00003813123	5754243	5754305

Expression profiles

Bgee: expression breadth ubiquitous, 118 present calls, max score 80.15.

Top tissues by expression

132 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	80.15	gold quality
granulocyte	CL:0000094	67.42	gold quality
spleen	UBERON:0002106	66.19	gold quality
right uterine tube	UBERON:0001302	63.93	gold quality
lymph node	UBERON:0000029	62.49	gold quality
tibial nerve	UBERON:0001323	62.45	gold quality
mucosa of stomach	UBERON:0001199	62.16	gold quality
right ovary	UBERON:0002118	60.65	gold quality
right coronary artery	UBERON:0001625	60.57	gold quality
left ovary	UBERON:0002119	60.13	gold quality
ovary	UBERON:0000992	59.22	gold quality
colonic epithelium	UBERON:0000397	57.35	silver quality
vermiform appendix	UBERON:0001154	57.24	gold quality
descending thoracic aorta	UBERON:0002345	56.70	gold quality
blood	UBERON:0000178	56.52	gold quality
fallopian tube	UBERON:0003889	55.99	gold quality
small intestine Peyer’s patch	UBERON:0003454	55.19	gold quality
subcutaneous adipose tissue	UBERON:0002190	54.28	gold quality
tibial artery	UBERON:0007610	54.25	gold quality
popliteal artery	UBERON:0002250	54.12	gold quality
calcaneal tendon	UBERON:0003701	54.03	gold quality
left uterine tube	UBERON:0001303	53.42	gold quality
small intestine	UBERON:0002108	53.41	gold quality
thoracic mammary gland	UBERON:0005200	52.81	gold quality
adipose tissue	UBERON:0001013	52.66	gold quality
endocervix	UBERON:0000458	52.57	gold quality
right lung	UBERON:0002167	52.54	gold quality
gall bladder	UBERON:0002110	52.43	gold quality
thoracic aorta	UBERON:0001515	52.35	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	52.34	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.83

Regulation

Is transcription factor: no

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or52n4b	ENSMUSG00000060759
mus_musculus	Or52n4	ENSMUSG00000070421
rattus_norvegicus	Or52n4e	ENSRNOG00000048219
rattus_norvegicus	Or52n4d	ENSRNOG00000054403

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), 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 52N4 — Q8NGI2 (reviewed: Q8NGI2)

Alternative names: Olfactory receptor OR11-64

All UniProt accessions (1): Q8NGI2

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor.

Subcellular location. Cell membrane.

Polymorphism. A stop codon at position Arg-172 in the gene coding for this protein is responsible for functional diversity thus producing a pseudogene. The stop codon is more frequent in non-Africans than in African-Americans.

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

RefSeq proteins (1): NP_001005175* (*=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-Q8NGI2-F1	89.52	0.71

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: 26 (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, GSE11924_TFH_VS_TH2_CD4_TCELL_DN, REACTOME_OLFACTORY_SIGNALING_PATHWAY, HARALAMBIEVA_PBMC_M_M_R_II_AGE_11_22YO_VACCINATED_VS_UNVACCINATED_LOW_ANTIBODY_RESPONDERS_TO_TREATMENT_7YR_UP, REACTOME_SENSORY_PERCEPTION, GSE18148_CBFB_KO_VS_WT_TREG_UP

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

174 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR52N4	ZNF681	Q96N22	540
OR52N4	ZNF648	Q5T619	510
OR52N4	TIGD7	Q6NT04	480
OR52N4	TIGD6	Q17RP2	474
OR52N4	KLK9	Q9UKQ9	367
OR52N4	PLPBP	O94903	326
OR52N4	SPATA22	Q8NHS9	325
OR52N4	RTP2	Q5QGT7	316
OR52N4	KLK12	Q9UKR0	302
OR52N4	FUCA2	Q9BTY2	290
OR52N4	TRIM58	Q8NG06	271
OR52N4	SULT2B1	O00204	264
OR52N4	ABCA13	Q86UQ4	260
OR52N4	VN1R1	Q9GZP7	244
OR52N4	TAS2R20	P59543	237

IntAct

2 interactions, top by confidence:

A	B	Type	Score
OR52N4	RBP1	psi-mi:“MI:0914”(association)	0.350

BioGRID (3): TBC1D21 (Affinity Capture-MS), SHARPIN (Affinity Capture-MS), RBP1 (Affinity Capture-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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	97
Likely benign	5
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

322 predictions. Top by Δscore:

Variant	Effect	Δscore
11:5754922:T:G	donor_gain	0.6800
11:5754967:GCTCT:G	donor_gain	0.6600
11:5754807:G:GT	donor_gain	0.6400
11:5754926:C:CG	donor_gain	0.6300
11:5755073:G:T	donor_gain	0.6100
11:5755002:T:TA	acceptor_gain	0.6000
11:5754848:G:GG	donor_gain	0.5900
11:5754903:G:GT	donor_gain	0.5900
11:5755168:T:G	donor_gain	0.5800
11:5755237:A:G	acceptor_gain	0.5500
11:5754844:C:CG	donor_gain	0.5400
11:5755424:C:A	donor_gain	0.5400
11:5754844:C:G	donor_gain	0.5300
11:5755164:G:GG	donor_gain	0.5300
11:5755624:ATGG:A	acceptor_gain	0.5300
11:5754807:G:T	donor_gain	0.5200
11:5754972:A:AG	acceptor_gain	0.5200
11:5754973:G:GG	acceptor_gain	0.5200
11:5755167:A:AG	donor_gain	0.5200
11:5754961:T:G	donor_gain	0.5100
11:5755072:G:GT	donor_gain	0.5100
11:5755672:CAGG:C	acceptor_gain	0.5100
11:5755455:GCCTT:G	donor_gain	0.5000
11:5755673:AGG:A	acceptor_gain	0.5000
11:5755112:C:G	donor_gain	0.4900
11:5754715:C:G	donor_gain	0.4800
11:5754802:G:GT	donor_gain	0.4800
11:5754841:GCTC:G	donor_gain	0.4800
11:5755089:C:CG	donor_gain	0.4800
11:5755163:T:TG	donor_gain	0.4800

AlphaMissense

2115 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:5754972:A:C	S78R	0.895
11:5754974:T:A	S78R	0.895
11:5754974:T:G	S78R	0.895
11:5755100:G:A	M120I	0.854
11:5755100:G:C	M120I	0.854
11:5755100:G:T	M120I	0.854
11:5755050:T:C	F104L	0.845
11:5755052:C:A	F104L	0.845
11:5755052:C:G	F104L	0.845
11:5754840:T:C	C34R	0.843
11:5755621:T:A	V294D	0.825
11:5755026:T:C	F96L	0.811
11:5755028:T:A	F96L	0.811
11:5755028:T:G	F96L	0.811
11:5755111:G:C	R124P	0.807
11:5755408:T:C	I223T	0.800
11:5755109:T:A	D123E	0.782
11:5755109:T:G	D123E	0.782
11:5755536:T:C	F266L	0.782
11:5755538:T:A	F266L	0.782
11:5755538:T:G	F266L	0.782
11:5755645:T:C	I302T	0.781
11:5755108:A:C	D123A	0.765
11:5755002:T:A	W88R	0.759
11:5755002:T:C	W88R	0.759
11:5755108:A:T	D123V	0.759
11:5754966:T:C	C76R	0.753
11:5755454:G:C	K238N	0.753
11:5755454:G:T	K238N	0.753
11:5754837:T:C	F33L	0.752

dbSNP variants (sampled 300 via entrez): RS1000176316 (11:5738176 C>G), RS1000191759 (11:5749264 G>A), RS1000198692 (11:5754894 C>G,T), RS1000433196 (11:5754671 T>C,G), RS1000465746 (11:5726421 T>C), RS1000492590 (11:5749259 T>A), RS1000613958 (11:5734935 T>A,C), RS1000645328 (11:5735242 G>C), RS1000672625 (11:5737737 A>G), RS1000711734 (11:5744926 C>A), RS1000783268 (11:5729337 G>A,T), RS1000844366 (11:5742857 A>G), RS1000931031 (11:5744656 T>C), RS1001004313 (11:5753398 G>C), RS1001189680 (11:5737990 T>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

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
ethyl-p-hydroxybenzoate	decreases expression	1
CGP 52608	affects binding, increases reaction	1
Acetaminophen	increases expression	1

Clinical trials (associated diseases)

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