OR52H1

Summary

OR52H1 (olfactory receptor family 52 subfamily H member 1, HGNC:15218) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 52H1 (Q8NGJ2). 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 390067 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 50 total
• MANE Select transcript: NM_001005289

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15218
Approved symbol	OR52H1
Name	olfactory receptor family 52 subfamily H member 1
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000181616
Ensembl biotype	protein_coding
Entrez	390067

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000322653, ENST00000641796

RefSeq mRNA: 1 — MANE Select: NM_001005289 NM_001005289

CCDS: CCDS31386

Canonical transcript exons

ENST00000322653 — 2 exons

Exon	Start	End
ENSE00001263972	5544561	5545535
ENSE00003813820	5548452	5548540

Expression profiles

Bgee: expression breadth tissue_specific, 5 present calls, max score 50.70.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	50.70	gold quality
sural nerve	UBERON:0015488	49.50	silver quality
bone marrow cell	CL:0002092	43.40	gold quality
apex of heart	UBERON:0002098	41.92	silver quality
hindlimb stylopod muscle	UBERON:0004252	40.09	silver quality
stromal cell of endometrium	CL:0002255	39.98	gold quality
skeletal muscle tissue	UBERON:0001134	39.13	gold quality
tonsil	UBERON:0002372	38.24	gold quality
bone marrow	UBERON:0002371	37.94	gold quality
granulocyte	CL:0000094	37.25	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
muscle tissue	UBERON:0002385	35.29	gold quality
liver	UBERON:0002107	34.29	gold quality
leukocyte	CL:0000738	33.51	silver quality
monocyte	CL:0000576	33.46	silver quality
corpus callosum	UBERON:0002336	32.37	gold quality
urinary bladder	UBERON:0001255	32.10	gold quality
blood	UBERON:0000178	30.12	gold quality
cortex of kidney	UBERON:0001225	29.65	gold quality
myometrium	UBERON:0001296	29.60	gold quality
gall bladder	UBERON:0002110	29.54	silver quality
body of uterus	UBERON:0009853	29.26	gold quality
prefrontal cortex	UBERON:0000451	29.23	gold quality
adrenal tissue	UBERON:0018303	29.14	gold quality
endometrium	UBERON:0001295	28.62	silver quality
duodenum	UBERON:0002114	28.14	gold quality
right coronary artery	UBERON:0001625	27.59	gold quality
lymph node	UBERON:0000029	27.57	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.44

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or52h1	ENSMUSG00000042909
rattus_norvegicus	Or52h1	ENSRNOG00000017138

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), 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 52H1 — Q8NGJ2 (reviewed: Q8NGJ2)

Alternative names: Olfactory receptor OR11-45

All UniProt accessions (2): A0A126GWQ6, Q8NGJ2

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor.

Subcellular location. Membrane.

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

RefSeq proteins (1): NP_001005289* (*=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 (26 total): topological domain 8, transmembrane region 7, sequence variant 7, glycosylation site 2, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGJ2-F1	86.84	0.57

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): 99–181

Glycosylation sites (2): 5, 269

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9752946	Expression and translocation of olfactory receptors

MSigDB gene sets: 20 (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, ZWANG_DOWN_BY_2ND_EGF_PULSE, 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

246 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR52H1	UBQLNL	Q8IYU4	544
OR52H1	TAS2R13	Q9NYV9	506
OR52H1	TAS2R5	Q9NYW4	467
OR52H1	VN1R4	Q7Z5H5	447
OR52H1	RALGPS2	Q86X27	447
OR52H1	TAAR2	Q9P1P5	437
OR52H1	TAAR5	O14804	432
OR52H1	TAS2R50	P59544	431
OR52H1	CNGA4	Q8IV77	424
OR52H1	VN1R2	Q8NFZ6	419
OR52H1	VN1R1	Q9GZP7	417
OR52H1	ZNF514	Q96K75	400
OR52H1	TAAR9	Q96RI9	390
OR52H1	TAAR8	Q969N4	379
OR52H1	TAAR6	Q96RI8	374

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	48
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

480 predictions. Top by Δscore:

Variant	Effect	Δscore
11:5544598:T:C	donor_gain	0.9600
11:5545854:CCA:C	acceptor_gain	0.8900
11:5545610:T:TA	acceptor_gain	0.8700
11:5545855:CA:C	acceptor_gain	0.8400
11:5545856:A:C	acceptor_gain	0.8300
11:5545109:T:TG	acceptor_gain	0.7600
11:5544591:A:T	donor_gain	0.7300
11:5545303:A:T	acceptor_gain	0.7200
11:5548529:C:CT	acceptor_gain	0.7100
11:5548530:A:T	acceptor_gain	0.7100
11:5545302:CAGCA:C	acceptor_gain	0.6300
11:5544846:G:C	acceptor_gain	0.6200
11:5545305:C:CT	acceptor_gain	0.6200
11:5544840:G:C	acceptor_gain	0.6100
11:5545306:A:AC	acceptor_gain	0.5800
11:5545534:CC:C	acceptor_gain	0.5800
11:5545535:CC:C	acceptor_gain	0.5800
11:5544588:TATA:T	donor_gain	0.5700
11:5544590:TA:T	donor_gain	0.5700
11:5544713:G:T	acceptor_gain	0.5700
11:5545306:A:C	acceptor_gain	0.5700
11:5544845:C:CT	acceptor_gain	0.5600
11:5545212:T:TA	donor_gain	0.5500
11:5544908:A:AC	donor_gain	0.5400
11:5544909:C:CC	donor_gain	0.5400
11:5545452:C:A	donor_gain	0.5400
11:5545855:C:T	acceptor_gain	0.5400
11:5547872:CCTG:C	donor_gain	0.5400
11:5548471:CAAA:C	donor_gain	0.5400
11:5544712:CGA:C	acceptor_gain	0.5300

AlphaMissense

2086 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:5544996:G:C	F176L	0.838
11:5544996:G:T	F176L	0.838
11:5544998:A:G	F176L	0.838
11:5545464:G:C	F20L	0.802
11:5545464:G:T	F20L	0.802
11:5545466:A:G	F20L	0.802
11:5545194:G:C	F110L	0.758
11:5545194:G:T	F110L	0.758
11:5545196:A:G	F110L	0.758
11:5544747:A:C	F259L	0.745
11:5544747:A:T	F259L	0.745
11:5544749:A:G	F259L	0.745
11:5545320:G:C	F68L	0.725
11:5545320:G:T	F68L	0.725
11:5545322:A:G	F68L	0.725
11:5544708:A:C	F272L	0.686
11:5544708:A:T	F272L	0.686
11:5544710:A:G	F272L	0.686
11:5545218:G:C	F102L	0.672
11:5545218:G:T	F102L	0.672
11:5545220:A:G	F102L	0.672
11:5545407:G:C	F39L	0.671
11:5545407:G:T	F39L	0.671
11:5545409:A:G	F39L	0.671
11:5545176:A:C	F116L	0.627
11:5545176:A:T	F116L	0.627
11:5545178:A:G	F116L	0.627
11:5545140:A:C	F128L	0.617
11:5545140:A:T	F128L	0.617
11:5545142:A:G	F128L	0.617

dbSNP variants (sampled 300 via entrez): RS1000177241 (11:5549174 A>G), RS1000374325 (11:5547937 G>A), RS1000418927 (11:5549639 C>A), RS1000945554 (11:5548991 T>C), RS1001296197 (11:5548506 T>C,G), RS1002292005 (11:5550146 C>G,T), RS1002322931 (11:5544399 G>A,T), RS1002529773 (11:5544688 G>A), RS1002738507 (11:5547354 T>C,G), RS1003734633 (11:5545585 C>A,T), RS1003756772 (11:5545918 T>C), RS1004399250 (11:5545638 G>A,C,T), RS1004825123 (11:5548893 G>A,T), RS1005199217 (11:5548539 C>A,G,T), RS1005649639 (11:5544413 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
GCST008058_108	Estimated glomerular filtration rate	4.000000e-18
GCST008059_42	Estimated glomerular filtration rate	6.000000e-14
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

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
(+)-JQ1 compound	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Arsenic	affects methylation	1
Atrazine	increases expression	1
Benzo(a)pyrene	increases methylation	1
Copper	affects cotreatment, decreases expression	1
Sodium Selenite	increases expression	1

Clinical trials (associated diseases)

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