OR52A5

Summary

OR52A5 (olfactory receptor family 52 subfamily A member 5, HGNC:19580) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 52A5 (Q9H2C5). 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 390054 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 51 total
• MANE Select transcript: NM_001005160

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19580
Approved symbol	OR52A5
Name	olfactory receptor family 52 subfamily A member 5
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000171944
Ensembl biotype	protein_coding
Entrez	390054

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000307388, ENST00000642125

RefSeq mRNA: 1 — MANE Select: NM_001005160 NM_001005160

CCDS: CCDS31373

Canonical transcript exons

ENST00000307388 — 2 exons

Exon	Start	End
ENSE00001177527	5128776	5132702
ENSE00003813217	5138311	5138356

Expression profiles

Bgee: expression breadth tissue_specific, 2 present calls, max score 80.43.

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	80.43	gold quality
bone marrow	UBERON:0002371	44.19	gold quality
bone marrow cell	CL:0002092	41.09	gold quality
sural nerve	UBERON:0015488	39.64	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
ganglionic eminence	UBERON:0004023	35.49	gold quality
granulocyte	CL:0000094	35.18	gold quality
monocyte	CL:0000576	34.66	gold quality
leukocyte	CL:0000738	34.53	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
superior frontal gyrus	UBERON:0002661	32.37	gold quality
muscle tissue	UBERON:0002385	32.17	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
prefrontal cortex	UBERON:0000451	31.69	gold quality
Brodmann (1909) area 9	UBERON:0013540	30.65	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
vermiform appendix	UBERON:0001154	29.20	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	28.73	gold quality
liver	UBERON:0002107	28.50	gold quality
frontal cortex	UBERON:0001870	28.33	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
primary visual cortex	UBERON:0002436	27.34	gold quality
tonsil	UBERON:0002372	27.05	gold quality
cerebral cortex	UBERON:0000956	26.72	gold quality
urinary bladder	UBERON:0001255	26.59	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
gall bladder	UBERON:0002110	25.98	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.42

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or52a5b	ENSMUSG00000058662
mus_musculus	Or52a5	ENSMUSG00000061626

Paralogs (51): OR51E2 (ENSG00000167332), OR51B5 (ENSG00000167355), OR51I1 (ENSG00000167359), OR51Q1 (ENSG00000167360), 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), OR52J3 (ENSG00000205495)

Protein

Protein identifiers

Olfactory receptor 52A5 — Q9H2C5 (reviewed: Q9H2C5)

Alternative names: Odorant receptor HOR3’beta5, Olfactory receptor OR11-33

All UniProt accessions (2): Q9H2C5, A0A126GWD2

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_001005160* (*=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 (17 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H2C5-F1	89.33	0.70

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

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, CHAMP1_TARGET_GENES, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY

GO Biological Process (5): sensory perception of smell (GO:0007608), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), 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
sensory perception of chemical stimulus	1
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
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

194 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR52A5	TMEM229A	B2RXF0	480
OR52A5	TAS2R42	Q7RTR8	417
OR52A5	TAAR5	O14804	412
OR52A5	TRIM48	Q8IWZ4	401
OR52A5	TRABD2B	A6NFA1	370
OR52A5	SYNE1	Q8NF91	362
OR52A5	A0A0J9YYA3	A0A0J9YYA3	327
OR52A5	LYPD4	Q6UWN0	326
OR52A5	HBE1	P02100	323
OR52A5	CNGA2	Q16280	315
OR52A5	ZNF410	Q86VK4	315
OR52A5	GPR171	O14626	305
OR52A5	INSL5	Q9Y5Q6	297
OR52A5	GNG13	Q9P2W3	291
OR52A5	OR2J1	Q9GZK6	284

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	50
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

301 predictions. Top by Δscore:

Variant	Effect	Δscore
11:5132576:CCAG:C	donor_gain	0.8600
11:5132566:TG:T	donor_gain	0.8000
11:5132625:G:C	donor_gain	0.7800
11:5132624:AG:A	donor_gain	0.7600
11:5131953:C:CC	acceptor_gain	0.7300
11:5132393:A:C	donor_gain	0.7300
11:5132573:A:AC	donor_gain	0.7300
11:5132574:C:CC	donor_gain	0.7300
11:5132519:T:TA	donor_gain	0.6800
11:5132563:CA:C	donor_gain	0.6800
11:5131950:CAG:C	acceptor_gain	0.6600
11:5132536:A:C	donor_gain	0.6200
11:5132569:A:AC	donor_gain	0.6200
11:5132570:C:CC	donor_gain	0.6200
11:5132572:G:T	donor_gain	0.6200
11:5131952:GCTGA:G	acceptor_loss	0.6100
11:5131953:C:A	acceptor_loss	0.6100
11:5131954:T:G	acceptor_loss	0.6100
11:5132095:TCACA:T	acceptor_gain	0.6100
11:5132575:TCCA:T	donor_gain	0.6000
11:5132624:AGC:A	donor_gain	0.6000
11:5132518:A:C	donor_gain	0.5900
11:5132535:CATGG:C	donor_gain	0.5800
11:5132608:G:C	donor_gain	0.5700
11:5131955:G:C	acceptor_loss	0.5600
11:5132570:CTGA:C	donor_gain	0.5600
11:5131951:AG:A	acceptor_gain	0.5500
11:5132099:A:T	acceptor_gain	0.5500
11:5131841:CAAAC:C	acceptor_gain	0.5300
11:5131948:GGCAG:G	acceptor_gain	0.5300

AlphaMissense

2084 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:5132272:C:G	R124P	0.939
11:5131881:G:C	F254L	0.929
11:5131881:G:T	F254L	0.929
11:5131883:A:G	F254L	0.929
11:5131972:A:G	I224T	0.921
11:5132283:C:A	M120I	0.914
11:5132283:C:G	M120I	0.914
11:5132283:C:T	M120I	0.914
11:5131762:A:T	V294D	0.904
11:5132005:T:G	D213A	0.899
11:5131993:A:T	I217K	0.889
11:5132005:T:A	D213V	0.888
11:5132282:C:G	A121P	0.884
11:5132511:A:C	N44K	0.884
11:5132511:A:T	N44K	0.884
11:5132004:G:C	D213E	0.879
11:5132004:G:T	D213E	0.879
11:5132555:C:G	G30R	0.879
11:5132555:C:T	G30R	0.879
11:5131842:A:C	F267L	0.877
11:5131842:A:T	F267L	0.877
11:5131844:A:G	F267L	0.877
11:5132525:C:G	G40R	0.874
11:5131911:G:C	C244W	0.872
11:5131926:C:A	K239N	0.869
11:5131926:C:G	K239N	0.869
11:5131890:G:C	F251L	0.868
11:5131890:G:T	F251L	0.868
11:5131892:A:G	F251L	0.868
11:5131738:A:G	I302T	0.866

dbSNP variants (sampled 300 via entrez): RS1000183646 (11:5135351 C>T), RS1000223724 (11:5138274 C>G), RS1000938976 (11:5131093 A>G), RS1001279743 (11:5137989 A>G), RS1001392851 (11:5130775 A>G), RS1001734666 (11:5131427 A>C,G), RS1001852035 (11:5137176 C>G), RS1002265988 (11:5136409 G>A,C), RS1002340941 (11:5130819 A>G), RS1002803220 (11:5131117 C>A,G), RS1003015901 (11:5133380 A>G), RS1003238153 (11:5135106 C>A,T), RS1003477039 (11:5138381 G>A,C), RS1003479408 (11:5133707 G>A), RS1003529728 (11:5138697 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

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

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

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Rotenone	decreases expression	1

Clinical trials (associated diseases)

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