OR2A1

Summary

OR2A1 (olfactory receptor family 2 subfamily A member 1, HGNC:8229) is a protein-coding gene on chromosome 7q35, encoding Olfactory receptor 2A1/2A42 (Q8NGT9). 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 346528 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 27 total
• MANE Select transcript: NM_001005287

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8229
Approved symbol	OR2A1
Name	olfactory receptor family 2 subfamily A member 1
Location	7q35
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000221970
Ensembl biotype	protein_coding
Entrez	346528

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000641044

RefSeq mRNA: 1 — MANE Select: NM_001005287 NM_001005287

CCDS: CCDS43673

Canonical transcript exons

ENST00000641044 — 2 exons

Exon	Start	End
ENSE00003812713	144312419	144312547
ENSE00003813209	144318121	144322737

Expression profiles

Bgee: expression breadth ubiquitous, 107 present calls, max score 87.90.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.90	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.88	gold quality
sural nerve	UBERON:0015488	63.47	gold quality
calcaneal tendon	UBERON:0003701	60.75	gold quality
colonic epithelium	UBERON:0000397	60.32	gold quality
left lobe of thyroid gland	UBERON:0001120	60.03	gold quality
right lobe of thyroid gland	UBERON:0001119	59.75	gold quality
thyroid gland	UBERON:0002046	59.19	gold quality
bone marrow cell	CL:0002092	57.73	gold quality
stromal cell of endometrium	CL:0002255	54.94	gold quality
bone marrow	UBERON:0002371	54.44	gold quality
ovary	UBERON:0000992	53.07	gold quality
left ovary	UBERON:0002119	52.74	gold quality
tonsil	UBERON:0002372	52.38	silver quality
right ovary	UBERON:0002118	51.65	gold quality
right lung	UBERON:0002167	51.21	gold quality
ganglionic eminence	UBERON:0004023	50.71	gold quality
ectocervix	UBERON:0012249	50.68	gold quality
skeletal muscle tissue	UBERON:0001134	50.31	gold quality
left uterine tube	UBERON:0001303	50.23	gold quality
thoracic mammary gland	UBERON:0005200	50.22	gold quality
metanephros cortex	UBERON:0010533	49.92	gold quality
endometrium	UBERON:0001295	49.74	gold quality
lung	UBERON:0002048	49.60	gold quality
kidney	UBERON:0002113	49.42	gold quality
vermiform appendix	UBERON:0001154	49.23	gold quality
uterine cervix	UBERON:0000002	49.07	gold quality
cortex of kidney	UBERON:0001225	48.79	gold quality
lower esophagus mucosa	UBERON:0035834	48.75	gold quality
subcutaneous adipose tissue	UBERON:0002190	48.74	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.31

Regulation

Is transcription factor: no

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or2a51	ENSMUSG00000048693
mus_musculus	Or2a20	ENSMUSG00000059411
mus_musculus	Or2a57	ENSMUSG00000061210
rattus_norvegicus	Or2a20	ENSRNOG00000071852
rattus_norvegicus	Or2a57	ENSRNOG00000088497
rattus_norvegicus	Or2a51	ENSRNOG00000089217

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 2A1/2A42 — Q8NGT9 (reviewed: Q8NGT9)

Alternative names: Olfactory receptor OR7-16, Olfactory receptor OR7-19

All UniProt accessions (1): Q8NGT9

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_001005287* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (18 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGT9-F1	86.38	0.50

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): 96–188

Glycosylation sites (1): 4

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-381753	Olfactory Signaling Pathway
R-HSA-9752946	Expression and translocation of olfactory receptors

MSigDB gene sets: 27 (showing top): MODULE_255, MODULE_317, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, chr7q35, MODULE_69, CAMPS_COLON_CANCER_COPY_NUMBER_DN, 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

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-2 pathways:

Category	Pathways
Sensory Perception	1
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

156 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2A1	ORMDL2	Q53FV1	445
OR2A1	CNGA4	Q8IV77	410
OR2A1	CNGA2	Q16280	403
OR2A1	SPDYE1	Q8NFV5	379
OR2A1	DUSP21	Q9H596	354
OR2A1	ADCY3	O60266	346
OR2A1	USP17L19	D6RCP7	324
OR2A1	USP17L15	C9J2P7	322
OR2A1	ZNF18	P17022	321
OR2A1	RTP2	Q5QGT7	318
OR2A1	TM7SF3	Q9NS93	302
OR2A1	PEX11G	Q96HA9	288
OR2A1	VN1R1	Q9GZP7	270
OR2A1	ZNF385B	Q569K4	269
OR2A1	CDC42EP1	Q00587	266

IntAct

0 interactions, top by confidence:

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, 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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	21
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

248 predictions. Top by Δscore:

Variant	Effect	Δscore
7:144318568:G:GT	donor_gain	0.9400
7:144318601:G:GA	donor_gain	0.9000
7:144318536:A:T	donor_gain	0.8900
7:144318600:T:TA	donor_gain	0.8100
7:144318568:G:T	donor_gain	0.7600
7:144318487:T:G	donor_gain	0.7300
7:144319044:A:T	donor_gain	0.7200
7:144318815:G:T	donor_gain	0.6700
7:144318956:A:AG	acceptor_gain	0.6700
7:144318957:G:GG	acceptor_gain	0.6700
7:144318815:G:GT	donor_gain	0.6500
7:144318315:ACCT:A	acceptor_gain	0.6200
7:144319043:G:GT	donor_gain	0.6100
7:144318316:C:G	acceptor_gain	0.5800
7:144318867:G:GT	donor_gain	0.5800
7:144318318:T:TA	acceptor_gain	0.5700
7:144318926:G:GT	donor_gain	0.5700
7:144318468:TGCTG:T	donor_gain	0.5600
7:144318741:T:A	donor_gain	0.5600
7:144318746:G:A	donor_gain	0.5600
7:144318925:G:GT	donor_gain	0.5600
7:144318864:T:TA	donor_gain	0.5500
7:144318537:GA:G	donor_gain	0.5400
7:144318570:C:G	donor_gain	0.5400
7:144318575:G:GA	donor_gain	0.5400
7:144318745:G:A	donor_gain	0.5400
7:144318814:G:GT	donor_gain	0.5300
7:144318894:T:G	donor_gain	0.5300
7:144318598:T:G	donor_gain	0.5200
7:144318802:G:GT	donor_gain	0.5200

AlphaMissense

2016 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:144318623:T:C	F167L	0.795
7:144318625:C:A	F167L	0.795
7:144318625:C:G	F167L	0.795
7:144318155:T:C	F11L	0.774
7:144318157:C:A	F11L	0.774
7:144318157:C:G	F11L	0.774
7:144318875:T:C	F251L	0.728
7:144318877:T:A	F251L	0.728
7:144318877:T:G	F251L	0.728
7:144318833:T:C	F237L	0.726
7:144318835:C:A	F237L	0.726
7:144318835:C:G	F237L	0.726
7:144318872:T:C	F250L	0.725
7:144318874:C:A	F250L	0.725
7:144318874:C:G	F250L	0.725
7:144318992:A:C	S290R	0.672
7:144318994:C:A	S290R	0.672
7:144318994:C:G	S290R	0.672
7:144318170:T:C	F16L	0.667
7:144318172:T:A	F16L	0.667
7:144318172:T:G	F16L	0.667
7:144318425:T:C	F101L	0.666
7:144318427:T:A	F101L	0.666
7:144318427:T:G	F101L	0.666
7:144318475:G:A	M117I	0.661
7:144318475:G:C	M117I	0.661
7:144318475:G:T	M117I	0.661
7:144318401:T:C	F93L	0.617
7:144318403:T:A	F93L	0.617
7:144318403:T:G	F93L	0.617

dbSNP variants (sampled 300 via entrez): RS1000371935 (7:144317847 G>A), RS1000488015 (7:144321292 G>C), RS1002228474 (7:144314448 A>C), RS1002280887 (7:144311826 G>A), RS1004226238 (7:144314520 A>C,G), RS1004745404 (7:144316540 T>C), RS1004849986 (7:144312577 T>G), RS1009297479 (7:144321751 G>A), RS1010830109 (7:144323009 G>C), RS1013431632 (7:144311590 C>T), RS1016222703 (7:144314595 A>G), RS1020602008 (7:144319402 A>G), RS1021138258 (7:144321761 T>A,C), RS1025444394 (7:144311734 T>A,C), RS1026931337 (7:144312537 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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
triphenyl phosphate	affects expression	1
pentanal	increases expression	1
di-n-butylphosphoric acid	affects expression	1
ICG 001	increases expression	1
Smoke	increases expression	1
Valproic Acid	increases methylation	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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