OR52K1

Summary

OR52K1 (olfactory receptor family 52 subfamily K member 1, HGNC:15222) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 52K1 (Q8NGK4). 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 390036 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 57 total
• MANE Select transcript: NM_001005171

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15222
Approved symbol	OR52K1
Name	olfactory receptor family 52 subfamily K member 1
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000196778
Ensembl biotype	protein_coding
Entrez	390036

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000641528, ENST00000642020

RefSeq mRNA: 2 — MANE Select: NM_001005171 NM_001005171, NM_001385736

CCDS: CCDS31352, CCDS91422

Canonical transcript exons

ENST00000641528 — 2 exons

Exon	Start	End
ENSE00003813308	4488573	4493497
ENSE00003821975	4482646	4483176

Expression profiles

Bgee: expression breadth tissue_specific, 10 present calls, max score 57.73.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	57.73	gold quality
leukocyte	CL:0000738	57.08	gold quality
bone marrow cell	CL:0002092	54.43	gold quality
blood	UBERON:0000178	54.00	gold quality
corpus callosum	UBERON:0002336	51.60	gold quality
bone marrow	UBERON:0002371	50.86	gold quality
right lobe of liver	UBERON:0001114	49.56	gold quality
hindlimb stylopod muscle	UBERON:0004252	49.21	silver quality
sural nerve	UBERON:0015488	48.44	gold quality
granulocyte	CL:0000094	48.03	silver quality
stromal cell of endometrium	CL:0002255	47.69	gold quality
liver	UBERON:0002107	46.85	gold quality
ganglionic eminence	UBERON:0004023	45.43	gold quality
colonic epithelium	UBERON:0000397	45.08	gold quality
skeletal muscle tissue	UBERON:0001134	43.68	gold quality
ventricular zone	UBERON:0003053	43.22	gold quality
muscle tissue	UBERON:0002385	43.05	gold quality
calcaneal tendon	UBERON:0003701	42.98	gold quality
muscle of leg	UBERON:0001383	42.04	gold quality
primary visual cortex	UBERON:0002436	41.68	gold quality
lower esophagus mucosa	UBERON:0035834	41.59	silver quality
adrenal tissue	UBERON:0018303	41.58	silver quality
gastrocnemius	UBERON:0001388	41.16	gold quality
lymph node	UBERON:0000029	40.89	gold quality
vermiform appendix	UBERON:0001154	40.05	silver quality
cortical plate	UBERON:0005343	39.74	gold quality
cortex of kidney	UBERON:0001225	38.47	gold quality
smooth muscle tissue	UBERON:0001135	38.29	gold quality
gall bladder	UBERON:0002110	38.17	gold quality
endometrium	UBERON:0001295	38.10	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.60
E-CURD-10	no	44.39

Regulation

Is transcription factor: no

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
rattus_norvegicus	Or52k1	ENSRNOG00000018506

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), OR51D1 (ENSG00000197428), OR51C1 (ENSG00000197674), OR52M1 (ENSG00000197790), OR52E6 (ENSG00000205409), OR52J3 (ENSG00000205495)

Protein

Protein identifiers

Olfactory receptor 52K1 — Q8NGK4 (reviewed: Q8NGK4)

Alternative names: Olfactory receptor OR11-8

All UniProt accessions (3): A0A126GVF2, A0A2R8Y546, Q8NGK4

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 (2): NP_001005171, NP_001372665 (=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 (20 total): topological domain 8, transmembrane region 7, sequence variant 2, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGK4-F1	88.29	0.64

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: 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, BDP1_TARGET_GENES, REACTOME_OLFACTORY_SIGNALING_PATHWAY, OSMAN_BLOOD_CHAD63_KH_AGE_18_50YO_HIGH_DOSE_SUBJECTS_24HR_UP, REACTOME_SENSORY_PERCEPTION, 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

344 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR52K1	KRTAP12-3	P60328	512
OR52K1	VN1R4	Q7Z5H5	480
OR52K1	VN1R2	Q8NFZ6	448
OR52K1	TMEM235	A6NFC5	447
OR52K1	TMED8	Q6PL24	399
OR52K1	GIMAP8	Q8ND71	396
OR52K1	VN1R1	Q9GZP7	394
OR52K1	RFPL4A	A6NLU0	374
OR52K1	C1QTNF8	P60827	371
OR52K1	TAS2R13	Q9NYV9	360
OR52K1	CNGA4	Q8IV77	333
OR52K1	SPATA31D3	P0C874	324
OR52K1	TAS2R5	Q9NYW4	323
OR52K1	TAS2R31	P59538	323
OR52K1	TAS2R50	P59544	323

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	55
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

155 predictions. Top by Δscore:

Variant	Effect	Δscore
11:4489456:GTG:G	donor_gain	0.7900
11:4489459:G:GG	donor_gain	0.7700
11:4489575:GGC:G	acceptor_gain	0.7600
11:4489575:GGCA:G	acceptor_gain	0.7600
11:4489572:TCA:T	acceptor_loss	0.7300
11:4489573:CA:C	acceptor_loss	0.7300
11:4489574:AGGC:A	acceptor_loss	0.7300
11:4489458:G:GA	donor_gain	0.6800
11:4489574:A:AG	acceptor_gain	0.6800
11:4489575:G:GG	acceptor_gain	0.6800
11:4489574:AG:A	acceptor_gain	0.6300
11:4489575:GG:G	acceptor_gain	0.6300
11:4489560:T:G	acceptor_gain	0.6200
11:4489459:GTA:G	donor_loss	0.5900
11:4489460:TAA:T	donor_loss	0.5900
11:4489461:AAG:A	donor_loss	0.5500
11:4489559:AT:A	acceptor_loss	0.5300
11:4489568:T:G	acceptor_gain	0.5300
11:4489454:CTGTG:C	donor_gain	0.5100
11:4489571:TTCAG:T	acceptor_gain	0.5100
11:4489457:TG:T	donor_gain	0.5000
11:4489458:GG:G	donor_gain	0.5000
11:4489576:G:GT	donor_gain	0.4800
11:4489134:A:AG	acceptor_gain	0.4600
11:4489572:TCAGG:T	acceptor_gain	0.4600
11:4489573:CAGGC:C	acceptor_gain	0.4600
11:4489574:AGGCA:A	acceptor_gain	0.4600
11:4489575:GGCAG:G	acceptor_gain	0.4600
11:4489427:T:G	donor_gain	0.4400
11:4489570:CTTCA:C	acceptor_gain	0.4400

AlphaMissense

2053 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:4489260:G:A	M120I	0.948
11:4489260:G:C	M120I	0.948
11:4489260:G:T	M120I	0.948
11:4489210:T:C	F104L	0.931
11:4489212:C:A	F104L	0.931
11:4489212:C:G	F104L	0.931
11:4489271:G:C	R124P	0.919
11:4489268:A:C	D123A	0.900
11:4489268:A:T	D123V	0.895
11:4489614:G:C	K238N	0.893
11:4489614:G:T	K238N	0.893
11:4489778:T:A	I293K	0.889
11:4489032:C:A	N44K	0.888
11:4489032:C:G	N44K	0.888
11:4488940:T:C	F14L	0.887
11:4488942:T:A	F14L	0.887
11:4488942:T:G	F14L	0.887
11:4489280:C:A	A127D	0.886
11:4489269:C:A	D123E	0.885
11:4489269:C:G	D123E	0.885
11:4489279:G:C	A127P	0.884
11:4489000:T:C	C34R	0.880
11:4489802:T:C	I301T	0.876
11:4489535:A:C	D212A	0.875
11:4489535:A:T	D212V	0.872
11:4489770:T:A	N290K	0.870
11:4489770:T:G	N290K	0.870
11:4489283:T:A	I128N	0.868
11:4489568:T:C	I223T	0.863
11:4488956:T:C	I19T	0.861

dbSNP variants (sampled 300 via entrez): RS1000323388 (11:4482327 A>T), RS1000543160 (11:4481451 C>T), RS1000681771 (11:4482563 T>A), RS1000709386 (11:4484667 A>G), RS1001058834 (11:4486806 T>C), RS1001109723 (11:4486461 G>A,C), RS1001250322 (11:4488837 GTAGAAGGTATATA>G), RS1001333357 (11:4491302 T>C), RS1001358583 (11:4493417 C>T), RS1001721149 (11:4489043 T>A,G), RS1002060051 (11:4487850 CAT>C), RS1002113674 (11:4487557 C>A,T), RS1002385927 (11:4491995 T>G), RS1002408550 (11:4483654 G>A), RS1002608911 (11:4488439 T>C)

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

5 associations (top):

Study	Trait	p-value
GCST001460_1	Amyotrophic lateral sclerosis	7.000000e-06
GCST001762_111	Obesity-related traits	2.000000e-06
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0006336	diastolic blood pressure

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
S-(1,2-dichlorovinyl)cysteine	increases expression, affects response to substance	1
CGP 52608	affects binding, increases reaction	1
Air Pollutants	affects expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Lipopolysaccharides	decreases expression, affects response to substance, increases expression	1
Ozone	affects expression, increases abundance	1
Tretinoin	increases expression	1

Clinical trials (associated diseases)

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