OR5A2

Summary

OR5A2 (olfactory receptor family 5 subfamily A member 2, HGNC:15249) is a protein-coding gene on chromosome 11q12.1, encoding Olfactory receptor 5A2 (Q8NGI9). 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 219981 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 46 total
• MANE Select transcript: NM_001001954

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15249
Approved symbol	OR5A2
Name	olfactory receptor family 5 subfamily A member 2
Location	11q12.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000172324
Ensembl biotype	protein_coding
Entrez	219981

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000302040, ENST00000641361, ENST00000641673

RefSeq mRNA: 1 — MANE Select: NM_001001954 NM_001001954

CCDS: CCDS31560

Canonical transcript exons

ENST00000302040 — 2 exons

Exon	Start	End
ENSE00001171203	59416969	59423044
ENSE00003912327	59426171	59426413

Expression profiles

Bgee: expression breadth not_expressed, 0 present calls, max score 48.49.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
hindlimb stylopod muscle	UBERON:0004252	48.49	gold quality
sural nerve	UBERON:0015488	46.85	gold quality
leukocyte	CL:0000738	42.12	gold quality
monocyte	CL:0000576	41.80	gold quality
calcaneal tendon	UBERON:0003701	41.78	gold quality
primary visual cortex	UBERON:0002436	40.88	gold quality
ganglionic eminence	UBERON:0004023	40.38	gold quality
liver	UBERON:0002107	40.17	gold quality
cortical plate	UBERON:0005343	39.74	gold quality
blood	UBERON:0000178	39.44	gold quality
bone marrow	UBERON:0002371	39.30	gold quality
stromal cell of endometrium	CL:0002255	38.50	gold quality
bone marrow cell	CL:0002092	38.02	gold quality
skeletal muscle tissue	UBERON:0001134	37.86	gold quality
muscle tissue	UBERON:0002385	37.71	gold quality
superior frontal gyrus	UBERON:0002661	37.51	gold quality
vermiform appendix	UBERON:0001154	37.45	gold quality
cortex of kidney	UBERON:0001225	37.43	gold quality
muscle of leg	UBERON:0001383	37.42	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
right lobe of liver	UBERON:0001114	37.08	gold quality
endometrium	UBERON:0001295	36.83	gold quality
lower esophagus mucosa	UBERON:0035834	36.81	gold quality
duodenum	UBERON:0002114	36.56	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
gastrocnemius	UBERON:0001388	36.39	gold quality
granulocyte	CL:0000094	36.27	gold quality
adrenal tissue	UBERON:0018303	35.96	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	35.78	gold quality
urinary bladder	UBERON:0001255	35.32	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.91

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or5a21	ENSMUSG00000109328
rattus_norvegicus	Or5a21	ENSRNOG00000024746

Paralogs (96): OR5C1 (ENSG00000148215), OR5F1 (ENSG00000149133), OR8K1 (ENSG00000150261), OR5M9 (ENSG00000150269), OR14K1 (ENSG00000153230), OR8J3 (ENSG00000167822), OR5I1 (ENSG00000167825), OR5AU1 (ENSG00000169327), OR9K2 (ENSG00000170605), OR8B12 (ENSG00000170953), OR10H3 (ENSG00000171936), OR8I2 (ENSG00000172154), OR8U1 (ENSG00000172199), OR10V1 (ENSG00000172289), OR5A1 (ENSG00000172320), OR5B12 (ENSG00000172362), OR5B2 (ENSG00000172365), OR9I1 (ENSG00000172377), OR9G4 (ENSG00000172457), OR5AR1 (ENSG00000172459), OR5AP2 (ENSG00000172464), OR8J1 (ENSG00000172487), OR5B3 (ENSG00000172769), OR10W1 (ENSG00000172772), OR5M3 (ENSG00000174937), OR5J2 (ENSG00000174957), OR10H4 (ENSG00000176231), OR5AN1 (ENSG00000176495), OR14C36 (ENSG00000177174), OR6B3 (ENSG00000178586), OR10Q1 (ENSG00000180475), OR8G2P (ENSG00000181214), OR5AK2 (ENSG00000181273), OR5AK3P (ENSG00000181282), OR5M8 (ENSG00000181371), OR8D4 (ENSG00000181518), OR8H1 (ENSG00000181693), OR8K5 (ENSG00000181752), OR8H3 (ENSG00000181761), OR8H2 (ENSG00000181767)

Protein

Protein identifiers

Olfactory receptor 5A2 — Q8NGI9 (reviewed: Q8NGI9)

Alternative names: Olfactory receptor OR11-248

All UniProt accessions (2): Q8NGI9, A0A126GVD5

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_001001954* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050516	Olfactory_GPCR	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-Q8NGI9-F1	87.69	0.65

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): 98–190

Glycosylation sites (1): 6

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 17 (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_ODORANT_BINDING, 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

GO Biological Process (4): signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608), detection of chemical stimulus involved in sensory perception of smell (GO:0050911)

GO Molecular Function (3): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984), odorant binding (GO:0005549)

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
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
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

270 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR5A2	TEX13D	A0A0J9YY54	478
OR5A2	TAS2R31	P59538	446
OR5A2	TAAR5	O14804	445
OR5A2	TEKTL1	Q8IYK2	402
OR5A2	DNAAF8	Q8IYS4	401
OR5A2	EFCAB8	A8MWE9	395
OR5A2	POMZP3	Q6PJE2	379
OR5A2	SYNE1	Q8NF91	353
OR5A2	TMEM208	Q9BTX3	349
OR5A2	ZNF708	P17019	349
OR5A2	CLEC2L	P0C7M8	348
OR5A2	CNGA2	Q16280	334
OR5A2	FBRSL1	Q9HCM7	324
OR5A2	GFY	I3L273	321
OR5A2	CYSTM1	Q9H1C7	316
OR5A2	MIMS1	Q96ND0	316

IntAct

4 interactions, top by confidence:

A	B	Type	Score
OR5A2	HNRNPC	psi-mi:“MI:0915”(physical association)	0.400
OR5A2	H2BC20P	psi-mi:“MI:0915”(physical association)	0.400
OR5A2	RALY	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (3): RALY (Proximity Label-MS), OR5A2 (Proximity Label-MS), OR5A2 (Proximity Label-MS)

ESM2 similar proteins: A6NCV1, A6NDL8, A6NF89, A6NIJ9, A6NJZ3, A6NL08, A6NM76, P0C628, P34985, P37067, P37068, P37069, P37070, P37071, P58181, Q60884, Q60886, Q8N0Y5, Q8N127, Q8N146, Q8N162, Q8NGE1, Q8NGE2, Q8NGG4, Q8NGI9, Q8NGL1, Q8NGL3, Q8NGS4, Q8NGS9, Q8NGT1, Q8NGZ9, Q8NH89, Q8VEW5, Q8VEW6, Q8VF66, Q8VFD0, Q8VFD1, Q8VFD2, Q8VFR8, Q8VFV4

Diamond homologs: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, O76099, O95013, P0C604, P0C623, P0C645, P0DN82, P58180, Q13606, Q15615, Q60878, Q60881, Q60888, Q60893, Q6IEV9, Q6IEY1, Q6IF82, Q6UXT6, Q7TQQ0, Q8IXE1, Q8N0Y3, Q8NGA1, Q8NGA8, Q8NGB2, Q8NGB4, Q8NGB6, Q8NGB8, Q8NGB9, Q8NGC2, Q8NGC3, Q8NGC4, Q8NGC6, Q8NGD0, Q8NGD1, Q8NGD2, Q8NGD3, Q8NGD4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	43
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

221 predictions. Top by Δscore:

Variant	Effect	Δscore
11:59422401:C:CC	acceptor_gain	0.8700
11:59422650:A:AC	donor_gain	0.8100
11:59422651:C:CC	donor_gain	0.8100
11:59422601:G:C	donor_gain	0.6900
11:59422396:CAGGA:C	acceptor_gain	0.6700
11:59422881:T:TA	donor_gain	0.6300
11:59422585:CCGGT:C	donor_gain	0.6200
11:59422515:C:CT	donor_gain	0.6100
11:59422359:C:CT	donor_gain	0.5700
11:59422360:C:CT	donor_gain	0.5700
11:59422178:A:C	acceptor_gain	0.5500
11:59422460:T:A	acceptor_gain	0.5400
11:59422579:AGCAT:A	donor_loss	0.5400
11:59422580:GCATA:G	donor_loss	0.5400
11:59422581:CATA:C	donor_loss	0.5400
11:59422582:ATAC:A	donor_loss	0.5400
11:59422583:TACCG:T	donor_loss	0.5400
11:59422584:A:C	donor_loss	0.5400
11:59422585:C:A	donor_loss	0.5400
11:59422584:A:AC	donor_gain	0.5300
11:59422585:C:CC	donor_gain	0.5300
11:59422194:C:CT	acceptor_gain	0.5200
11:59422399:GA:G	acceptor_gain	0.5000
11:59422504:A:C	donor_gain	0.5000
11:59422248:TCCTA:T	donor_loss	0.4900
11:59422249:CCTA:C	donor_loss	0.4900
11:59422250:CTA:C	donor_loss	0.4900
11:59422251:TA:T	donor_loss	0.4900
11:59422252:A:C	donor_loss	0.4900
11:59422253:C:CA	donor_loss	0.4900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000087784 (11:59422847 T>G), RS1000645390 (11:59427112 G>A), RS1000816131 (11:59424432 CA>C), RS1001186228 (11:59424783 C>T), RS1001192427 (11:59428039 A>G), RS1001384879 (11:59421680 T>G), RS1001910431 (11:59417507 GA>G,GAA), RS1001964831 (11:59424008 G>A), RS1002254904 (11:59417712 T>C), RS1002561979 (11:59421421 T>C), RS1002815491 (11:59427321 G>A), RS1003039191 (11:59420405 C>A,T), RS1003384513 (11:59418947 T>C), RS1003436591 (11:59425373 G>A,T), RS1003459948 (11:59420206 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

2 associations (top):

Study	Trait	p-value
GCST007327_110	Smoking status (ever vs never smokers)	2.000000e-09
GCST008529_56	Tea consumption	1.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004318	smoking behavior
EFO:0010091	tea consumption measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
2-palmitoylglycerol	increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation	1
Tetrachlorodibenzodioxin	affects expression	1

Clinical trials (associated diseases)

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