OR2AE1

Summary

OR2AE1 (olfactory receptor family 2 subfamily AE member 1, HGNC:15087) is a protein-coding gene on chromosome 7q22.1, encoding Olfactory receptor 2AE1 (Q8NHA4). 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 81392 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 46 total
• MANE Select transcript: NM_001005276

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15087
Approved symbol	OR2AE1
Name	olfactory receptor family 2 subfamily AE member 1
Location	7q22.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000244623
Ensembl biotype	protein_coding
Entrez	81392

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000316368

RefSeq mRNA: 1 — MANE Select: NM_001005276 NM_001005276

CCDS: CCDS34696

Canonical transcript exons

ENST00000316368 — 1 exons

Exon	Start	End
ENSE00004472041	99876062	99877033

Expression profiles

Bgee: expression breadth broad, 35 present calls, max score 47.88.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	47.88	gold quality
right coronary artery	UBERON:0001625	47.17	gold quality
colonic epithelium	UBERON:0000397	41.74	gold quality
tonsil	UBERON:0002372	41.05	gold quality
skeletal muscle tissue	UBERON:0001134	40.73	gold quality
granulocyte	CL:0000094	40.25	gold quality
duodenum	UBERON:0002114	39.63	gold quality
lower esophagus mucosa	UBERON:0035834	39.16	gold quality
mucosa of stomach	UBERON:0001199	39.06	silver quality
bone marrow	UBERON:0002371	38.96	gold quality
muscle tissue	UBERON:0002385	38.41	gold quality
apex of heart	UBERON:0002098	37.08	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
monocyte	CL:0000576	36.40	silver quality
leukocyte	CL:0000738	36.29	gold quality
muscle of leg	UBERON:0001383	35.65	silver quality
gastrocnemius	UBERON:0001388	35.51	silver quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
islet of Langerhans	UBERON:0000006	35.32	gold quality
prefrontal cortex	UBERON:0000451	34.88	silver quality
adenohypophysis	UBERON:0002196	34.56	gold quality
ectocervix	UBERON:0012249	34.53	silver quality
left adrenal gland cortex	UBERON:0035825	34.46	silver quality
lymph node	UBERON:0000029	34.09	silver quality
liver	UBERON:0002107	33.86	gold quality
uterine cervix	UBERON:0000002	33.57	silver quality
urinary bladder	UBERON:0001255	33.31	silver quality
rectum	UBERON:0001052	33.17	silver quality
left adrenal gland	UBERON:0001234	33.07	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.97

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (92): OR2B6 (ENSG00000124657), OR13C9 (ENSG00000136839), OR13C4 (ENSG00000148136), OR2M5 (ENSG00000162727), OR10A5 (ENSG00000166363), OR2D2 (ENSG00000166368), OR2B2 (ENSG00000168131), OR2C1 (ENSG00000168158), OR13J1 (ENSG00000168828), OR10G3 (ENSG00000169208), OR10A3 (ENSG00000170683), OR10A4 (ENSG00000170782), OR10A2 (ENSG00000170790), OR13H1 (ENSG00000171054), OR2K2 (ENSG00000171133), OR2M4 (ENSG00000171180), OR10H2 (ENSG00000171942), OR10H5 (ENSG00000172519), OR10AD1 (ENSG00000172640), OR2Y1 (ENSG00000174339), OR10AG1 (ENSG00000174970), OR2T1 (ENSG00000175143), OR10P1 (ENSG00000175398), OR2T35 (ENSG00000177151), OR2M7 (ENSG00000177186), OR2T12 (ENSG00000177201), OR2T33 (ENSG00000177212), OR2AJ1 (ENSG00000177275), OR2T8 (ENSG00000177462), OR2G3 (ENSG00000177476), OR2G2 (ENSG00000177489), OR2B11 (ENSG00000177535), OR2D3 (ENSG00000178358), OR13D1 (ENSG00000179055), OR10A7 (ENSG00000179919), OR2Z1 (ENSG00000181733), OR2V2 (ENSG00000182613), OR10G7 (ENSG00000182634), OR2T29 (ENSG00000182783), OR2T34 (ENSG00000183310)

Protein

Protein identifiers

Olfactory receptor 2AE1 — Q8NHA4 (reviewed: Q8NHA4)

Alternative names: Olfactory receptor 2AE2

All UniProt accessions (1): Q8NHA4

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_001005276* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (21 total): topological domain 8, transmembrane region 7, sequence variant 3, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NHA4-F1	85.86	0.58

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): 97–189

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, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, chr7q22, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS

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

132 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2AE1	CALHM4	Q5JW98	476
OR2AE1	L3HYPDH	Q96EM0	419
OR2AE1	ZNF626	Q68DY1	403
OR2AE1	MOGAT3	Q86VF5	396
OR2AE1	CSTL1	Q9H114	394
OR2AE1	TMED6	Q8WW62	374
OR2AE1	LRCH2	Q5VUJ6	374
OR2AE1	AGFG2	O95081	372
OR2AE1	PRRG1	O14668	369
OR2AE1	EIF1AX	P47813	369
OR2AE1	PCDHGA9	Q9Y5G4	368
OR2AE1	ZKSCAN5	Q9Y2L8	351
OR2AE1	MRPL47	Q9HD33	312
OR2AE1	REEP3	Q6NUK4	305
OR2AE1	MRPL4	Q9BYD3	294

IntAct

2 interactions, top by confidence:

A	B	Type	Score
rep	OR2AE1	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (2): OR2AE1 (Proximity Label-MS), OR2AE1 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A2R8YED5, A6NM03, O14581, O60412, O76099, O95006, O95047, O95371, P34982, P34984, P47884, P58170, Q15619, Q15622, Q5TZ20, Q60883, Q60887, Q60891, Q6IFH4, Q7Z3T1, Q8N628, Q8NG84, Q8NG95, Q8NG98, Q8NG99, Q8NGA0, Q8NGA1, Q8NGA2, Q8NGQ5, Q8NGR9, Q8NGS1, Q8NGS2, Q8NGS3, Q8NGV0, Q8NGW1, Q8NGX1, Q8NH06, Q8NH80, Q8NHA4, Q95157

Diamond homologs: A3KFT3, A4D2G3, A6NH00, A6NL26, A6NM03, O43869, O76000, O76001, O76002, O95006, O95221, O95371, O95918, P0C7N1, P0C7T2, P23274, P23275, P34984, P59922, Q13606, Q13607, Q5TZ20, Q60880, Q60890, Q6IEZ7, Q6IF00, Q8N127, Q8N349, Q8N628, Q8NG75, Q8NG76, Q8NG77, Q8NG80, Q8NG81, Q8NG83, Q8NG84, Q8NG85, Q8NG97, Q8NGC0, Q8NGE5

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	46
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

385 predictions. Top by Δscore:

Variant	Effect	Δscore
7:99876159:C:CT	acceptor_gain	0.7100
7:99876383:A:C	acceptor_gain	0.7000
7:99876770:G:A	donor_gain	0.6800
7:99876364:CA:C	acceptor_gain	0.6500
7:99876160:G:T	acceptor_gain	0.6400
7:99876282:A:T	donor_gain	0.6400
7:99876341:C:CA	donor_gain	0.6400
7:99876841:GGC:G	acceptor_gain	0.6300
7:99876365:ACTTT:A	acceptor_gain	0.6200
7:99876805:T:TC	acceptor_gain	0.5900
7:99876366:C:CC	acceptor_gain	0.5800
7:99876366:CTTTG:C	acceptor_gain	0.5800
7:99876285:C:CT	acceptor_gain	0.5700
7:99876275:G:C	donor_gain	0.5600
7:99876708:C:CT	donor_gain	0.5600
7:99876497:A:AC	donor_gain	0.5400
7:99876498:C:CC	donor_gain	0.5400
7:99876355:T:C	donor_gain	0.5300
7:99876280:C:CT	acceptor_gain	0.5200
7:99876709:C:CT	donor_gain	0.5200
7:99876294:A:C	donor_gain	0.5100
7:99876367:T:C	acceptor_gain	0.5100
7:99876398:C:CT	acceptor_gain	0.5100
7:99876918:A:AC	donor_gain	0.5100
7:99876919:C:CC	donor_gain	0.5100
7:99876118:T:A	donor_gain	0.5000
7:99876165:G:GC	acceptor_gain	0.5000
7:99876934:C:CT	donor_gain	0.5000
7:99876938:C:CT	acceptor_gain	0.5000
7:99876135:AGAG:A	donor_gain	0.4900

AlphaMissense

2123 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:99876998:G:C	F12L	0.804
7:99876998:G:T	F12L	0.804
7:99877000:A:G	F12L	0.804
7:99876281:A:C	F251L	0.711
7:99876281:A:T	F251L	0.711
7:99876283:A:G	F251L	0.711
7:99876530:G:C	F168L	0.709
7:99876530:G:T	F168L	0.709
7:99876532:A:G	F168L	0.709
7:99876503:G:C	F177L	0.704
7:99876503:G:T	F177L	0.704
7:99876505:A:G	F177L	0.704
7:99876929:G:C	F35L	0.670
7:99876929:G:T	F35L	0.670
7:99876931:A:G	F35L	0.670
7:99876980:G:C	F18L	0.657
7:99876980:G:T	F18L	0.657
7:99876982:A:G	F18L	0.657
7:99876950:G:C	F28L	0.645
7:99876950:G:T	F28L	0.645
7:99876952:A:G	F28L	0.645
7:99876728:G:C	F102L	0.643
7:99876728:G:T	F102L	0.643
7:99876730:A:G	F102L	0.643
7:99876428:G:C	S202R	0.589
7:99876428:G:T	S202R	0.589
7:99876430:T:G	S202R	0.589
7:99876491:G:C	F181L	0.570
7:99876491:G:T	F181L	0.570
7:99876493:A:G	F181L	0.570

dbSNP variants (sampled 300 via entrez): RS1002023206 (7:99877699 G>A), RS1002055692 (7:99878025 C>G,T), RS1002805866 (7:99877039 C>G,T), RS1004668201 (7:99875681 C>T), RS1004768571 (7:99877563 GAC>G), RS1005497453 (7:99877284 C>T), RS1006445527 (7:99876151 C>T), RS1008500748 (7:99878502 G>C), RS1010576228 (7:99878613 G>A), RS1010855181 (7:99878049 C>T), RS1011027734 (7:99878255 G>A,C,T), RS1011144631 (7:99878706 A>G,T), RS1013789178 (7:99876363 A>C,G), RS1015571482 (7:99878809 A>C), RS1016158899 (7:99877871 A>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

1 associations (top):

Study	Trait	p-value
GCST010002_259	Refractive error	3.000000e-16

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2572023	OR2AE1		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	increases expression	1
bisphenol A	decreases methylation	1
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	increases methylation	1

Clinical trials (associated diseases)

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