OR2A2

Summary

OR2A2 (olfactory receptor family 2 subfamily A member 2, HGNC:8230) is a protein-coding gene on chromosome 7q35, encoding Olfactory receptor 2A2 (Q6IF42). 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 442361 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 56 total
• MANE Select transcript: NM_001005480

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8230
Approved symbol	OR2A2
Name	olfactory receptor family 2 subfamily A member 2
Location	7q35
Locus type	gene with protein product
Status	Approved
Aliases	OST008
Ensembl gene	ENSG00000221989
Ensembl biotype	protein_coding
Entrez	442361

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000408979

RefSeq mRNA: 1 — MANE Select: NM_001005480 NM_001005480

CCDS: CCDS43671

Canonical transcript exons

ENST00000408979 — 1 exons

Exon	Start	End
ENSE00004472040	144109583	144110539

Expression profiles

Bgee: expression breadth tissue_specific, 4 present calls, max score 39.08.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	39.08	gold quality
calcaneal tendon	UBERON:0003701	38.34	silver quality
ganglionic eminence	UBERON:0004023	37.52	silver 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
hindlimb stylopod muscle	UBERON:0004252	36.12	silver quality
tonsil	UBERON:0002372	35.72	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
bone marrow	UBERON:0002371	33.23	gold quality
rectum	UBERON:0001052	31.17	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
liver	UBERON:0002107	30.86	gold quality
cortex of kidney	UBERON:0001225	30.71	silver quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
left lobe of thyroid gland	UBERON:0001120	28.23	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
fundus of stomach	UBERON:0001160	27.16	gold quality
islet of Langerhans	UBERON:0000006	26.95	gold quality
urinary bladder	UBERON:0001255	26.81	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.41	gold quality
metanephros cortex	UBERON:0010533	26.41	gold quality
right ovary	UBERON:0002118	26.16	gold quality
leukocyte	CL:0000738	26.11	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
monocyte	CL:0000576	25.96	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.16

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• Prenatal phthalate exposure and cord blood DNA methylation. (PMID:37120575)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or2a52	ENSMUSG00000071481
rattus_norvegicus	Or2a52	ENSRNOG00000074634

Paralogs (130): OR1I1 (ENSG00000094661), OR12D3 (ENSG00000112462), OR7A10 (ENSG00000127515), OR7C2 (ENSG00000127529), OR7C1 (ENSG00000127530), OR1E2 (ENSG00000127780), OR1J1 (ENSG00000136834), OR1L4 (ENSG00000136939), OR4D1 (ENSG00000141194), OR4K1 (ENSG00000155249), OR3A3 (ENSG00000159961), OR7G1 (ENSG00000161807), OR1Q1 (ENSG00000165202), OR1K1 (ENSG00000165204), OR4K2 (ENSG00000165762), OR4D6 (ENSG00000166884), OR1F1 (ENSG00000168124), OR4K14 (ENSG00000169484), OR4K15 (ENSG00000169488), OR7G3 (ENSG00000170920), OR7G2 (ENSG00000170923), OR1M1 (ENSG00000170929), OR4D5 (ENSG00000171014), OR1L6 (ENSG00000171459), OR1L3 (ENSG00000171481), OR1L8 (ENSG00000171496), OR1N2 (ENSG00000171501), OR1N1 (ENSG00000171505), OR2AT4 (ENSG00000171561), OR1A1 (ENSG00000172146), OR1A2 (ENSG00000172150), OR4C11 (ENSG00000172188), OR4X2 (ENSG00000172208), OR4D9 (ENSG00000172742), OR10K1 (ENSG00000173285), OR1L1 (ENSG00000173679), OR7D4 (ENSG00000174667), OR4S2 (ENSG00000174982), OR4B1 (ENSG00000175619), OR4D11 (ENSG00000176200)

Protein

Protein identifiers

Olfactory receptor 2A2 — Q6IF42 (reviewed: Q6IF42)

Alternative names: Olfactory receptor 2A17, Olfactory receptor OR7-11

All UniProt accessions (2): Q6IF42, A0A126GW45

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_001005480* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain

Pfam: PF13853

UniProt features (20 total): topological domain 8, transmembrane region 7, sequence variant 3, chain 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6IF42-F1	87.06	0.53

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): 4

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 16 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, chr7q35, 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, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY

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

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 smell	1
detection of chemical stimulus involved in sensory perception	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
sensory perception of chemical stimulus	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

114 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2A2	FREY1	C9JXX5	735
OR2A2	ZNF782	Q6ZMW2	593
OR2A2	ZNF550	Q7Z398	590
OR2A2	RSPH14	Q9UHP6	506
OR2A2	ZNF419	Q96HQ0	479
OR2A2	FAM124B	Q9H5Z6	478
OR2A2	ERVMER34-1	Q9H9K5	447
OR2A2	ATP13A4	Q4VNC1	398
OR2A2	RXFP4	Q8TDU9	379
OR2A2	DPEP2	Q9H4A9	371
OR2A2	INSL5	Q9Y5Q6	365
OR2A2	NCKIPSD	Q9NZQ3	356
OR2A2	SLC22A17	Q8WUG5	314
OR2A2	ATP1B2	P14415	300
OR2A2	CRIM1	Q9NZV1	271

IntAct

2 interactions, top by confidence:

A	B	Type	Score
OR2A2	SLC12A6	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (1): SLC12A6 (Affinity Capture-MS)

ESM2 similar proteins: A4D2G3, O60403, O76001, O76002, O76100, O95006, O95047, P23269, P23272, P23274, P30953, P30955, P34984, P58173, P59922, P70526, Q13607, Q15619, Q15622, Q5TZ20, Q60890, Q6IF42, Q7Z3T1, Q8N628, Q8NGA6, Q8NGQ2, Q8NGT7, Q8NGT9, Q8NGX0, Q8NGY5, Q8NGZ4, Q8NGZ5, Q8NGZ6, Q8NHA6, Q8VGD6, Q8VGI1, Q95156, Q96R30, Q96R45, Q96R47

Diamond homologs: A3KFT3, A4D2G3, O43749, O60412, O76000, O76001, O76002, O95006, O95047, O95371, O95918, P0C626, P23266, P23269, P23272, P23273, P23274, P23275, P30953, P30955, P34982, P34984, P34986, P58173, P58181, P59922, P70526, Q13606, Q13607, Q15617, Q15619, Q5TZ20, Q60879, Q60890, Q6IEU7, Q6IF42, Q6UXT6, Q8N628, Q8NGA1, Q8NGC9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	49
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

101 predictions. Top by Δscore:

Variant	Effect	Δscore
7:144110223:T:TA	acceptor_gain	0.9400
7:144110235:T:G	acceptor_gain	0.8000
7:144110233:C:G	acceptor_gain	0.7900
7:144110239:C:G	acceptor_gain	0.7800
7:144110200:A:AG	acceptor_gain	0.7700
7:144110201:G:GG	acceptor_gain	0.7700
7:144110217:T:TA	acceptor_gain	0.6600
7:144110224:G:A	acceptor_gain	0.6600
7:144110232:A:AG	acceptor_gain	0.6300
7:144109733:GACTC:G	donor_gain	0.6200
7:144109994:A:T	donor_gain	0.6000
7:144110234:AT:A	acceptor_gain	0.6000
7:144109773:ACCT:A	acceptor_gain	0.5700
7:144110234:A:AG	acceptor_gain	0.5600
7:144110238:A:AG	acceptor_gain	0.5500
7:144109755:T:G	donor_gain	0.5400
7:144110232:ACAT:A	acceptor_gain	0.5400
7:144110200:AGTCG:A	acceptor_gain	0.5200
7:144110201:GTCGG:G	acceptor_gain	0.5200
7:144109910:GA:G	acceptor_gain	0.5000
7:144110200:AGTC:A	acceptor_gain	0.5000
7:144110201:GTCG:G	acceptor_gain	0.5000
7:144110201:GTC:G	acceptor_gain	0.4800
7:144110415:GT:G	acceptor_gain	0.4500
7:144109629:TCCAG:T	donor_loss	0.4400
7:144109630:CCAGG:C	donor_loss	0.4400
7:144109631:CAGGT:C	donor_loss	0.4400
7:144109632:AGGT:A	donor_loss	0.4400
7:144109633:GG:G	donor_loss	0.4400
7:144109634:G:A	donor_loss	0.4400

AlphaMissense

2084 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:144110081:T:C	F167L	0.886
7:144110083:C:A	F167L	0.886
7:144110083:C:G	F167L	0.886
7:144110330:T:C	F250L	0.870
7:144110332:C:A	F250L	0.870
7:144110332:C:G	F250L	0.870
7:144110111:T:C	F177L	0.843
7:144110113:C:A	F177L	0.843
7:144110113:C:G	F177L	0.843
7:144110333:T:C	F251L	0.821
7:144110335:T:A	F251L	0.821
7:144110335:T:G	F251L	0.821
7:144109628:T:C	F16L	0.807
7:144109630:C:A	F16L	0.807
7:144109630:C:G	F16L	0.807
7:144110450:A:C	S290R	0.801
7:144110452:C:A	S290R	0.801
7:144110452:C:G	S290R	0.801
7:144110291:T:C	F237L	0.782
7:144110293:C:A	F237L	0.782
7:144110293:C:G	F237L	0.782
7:144110437:C:A	N285K	0.766
7:144110437:C:G	N285K	0.766
7:144109705:T:A	N41K	0.756
7:144109705:T:G	N41K	0.756
7:144109859:T:C	F93L	0.754
7:144109861:T:A	F93L	0.754
7:144109861:T:G	F93L	0.754
7:144109879:G:C	Q99H	0.744
7:144109879:G:T	Q99H	0.744

dbSNP variants (sampled 300 via entrez): RS1002780691 (7:144108946 G>A,T), RS1003229503 (7:144110055 A>G), RS1003833730 (7:144108807 T>C), RS1005024401 (7:144109391 T>G), RS1005137231 (7:144110495 C>G), RS1005649436 (7:144107617 C>T), RS1006441840 (7:144107931 C>T), RS1006601843 (7:144108263 C>A,T), RS1006741232 (7:144110362 C>T), RS1007148718 (7:144107957 T>A), RS1008763073 (7:144107974 A>T), RS1009078933 (7:144109367 T>C), RS1010167556 (7:144108758 A>G,T), RS1012868266 (7:144110563 A>G), RS1014348181 (7:144110288 G>A,T)

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
GCST010136_23	Fruit consumption	5.000000e-08
GCST010136_24	Fruit consumption	1.000000e-48

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008111	diet measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
propionaldehyde	decreases expression	1
CGP 52608	affects binding, increases reaction	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Valproic Acid	decreases methylation	1

Clinical trials (associated diseases)

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