OR1A2

Summary

OR1A2 (olfactory receptor family 1 subfamily A member 2, HGNC:8180) is a protein-coding gene on chromosome 17p13.3, encoding Olfactory receptor 1A2 (Q9Y585). 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 26189 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 51 total
• MANE Select transcript: NM_012352

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8180
Approved symbol	OR1A2
Name	olfactory receptor family 1 subfamily A member 2
Location	17p13.3
Locus type	gene with protein product
Status	Approved
Aliases	OR17-6
Ensembl gene	ENSG00000172150
Ensembl biotype	protein_coding
OMIM	618047
Entrez	26189

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000381951

RefSeq mRNA: 1 — MANE Select: NM_012352 NM_012352

CCDS: CCDS11021

Canonical transcript exons

ENST00000381951 — 1 exons

Exon	Start	End
ENSE00001490369	3197519	3198448

Expression profiles

Bgee: expression breadth tissue_specific, 1 present calls, max score 78.38.

Top tissues by expression

132 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	78.38	silver quality
hair follicle	UBERON:0002073	61.06	gold quality
palpebral conjunctiva	UBERON:0001812	59.99	gold quality
decidua	UBERON:0002450	59.58	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
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
placenta	UBERON:0001987	33.34	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
liver	UBERON:0002107	29.20	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
duodenum	UBERON:0002114	28.14	gold quality
urinary bladder	UBERON:0001255	28.01	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
blood	UBERON:0000178	26.49	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
leukocyte	CL:0000738	26.08	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
mononuclear cell	CL:0000842	25.93	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
calcaneal tendon	UBERON:0003701	25.59	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.64

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 2)

• Evolutionary conserved amino acid residues to be necessary for specific responsiveness of OR1A1 to odorants were identified. (PMID:17601748)
• We identified and confirmed a novel region on OR1A2 associated with Neuroticism. (PMID:23903073)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or1a1b	ENSMUSG00000070377
mus_musculus	Or1a1	ENSMUSG00000070378
rattus_norvegicus	Or1a1	ENSRNOG00000087148
rattus_norvegicus	Or1a1b	ENSRNOG00000087980

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), OR4C11 (ENSG00000172188), OR4X2 (ENSG00000172208), OR4D9 (ENSG00000172742), OR10K1 (ENSG00000173285), OR1L1 (ENSG00000173679), OR7D4 (ENSG00000174667), OR4S2 (ENSG00000174982), OR4B1 (ENSG00000175619), OR4D11 (ENSG00000176200), OR4K17 (ENSG00000176230)

Protein

Protein identifiers

Olfactory receptor 1A2 — Q9Y585 (reviewed: Q9Y585)

Alternative names: Olfactory receptor 17-6, Olfactory receptor OR17-10

All UniProt accessions (2): Q9Y585, A0A126GVH4

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_036484* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (22 total): topological domain 8, transmembrane region 7, sequence variant 4, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y585-F1	88.32	0.60

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: 43 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_CYTOKINESIS, GOBP_POSITIVE_REGULATION_OF_CELL_DIVISION, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_POSITIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_REGULATION_OF_CYTOKINESIS, GOBP_POSITIVE_REGULATION_OF_CYTOKINESIS, GOBP_REGULATION_OF_CELL_DIVISION, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOBP_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_CELL_DIVISION, GOBP_POSITIVE_REGULATION_OF_CELL_CYCLE

GO Biological Process (5): signal transduction (GO:0007165), positive regulation of cytokinesis (GO:0032467), 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 (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
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
cytokinesis	1
regulation of cytokinesis	1
positive regulation of cell division	1
positive regulation of cell cycle process	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
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

282 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR1A2	KRTAP9-7	A8MTY7	544
OR1A2	KRTAP9-8	Q9BYQ0	446
OR1A2	KRTAP9-1	A8MXZ3	410
OR1A2	RTP1	P59025	375
OR1A2	NKAIN2	Q5VXU1	373
OR1A2	RTP2	Q5QGT7	370
OR1A2	TMEM95	Q3KNT9	370
OR1A2	TMEM220	Q6QAJ8	348
OR1A2	C17orf50	Q8WW18	338
OR1A2	TAS2R13	Q9NYV9	324
OR1A2	TBC1D3K	A0A087X1G2	321
OR1A2	TMEM181	Q9P2C4	311
OR1A2	CDRT15L2	A8MXV6	297
OR1A2	TMEM92	Q6UXU6	292
OR1A2	TBC1D3H	P0C7X1	255

IntAct

1 interactions, top by confidence:

A	B	Type	Score
OR1A2	EMC8	psi-mi:“MI:0914”(association)	0.350

BioGRID (3): EMC8 (Affinity Capture-MS), FAM63A (Affinity Capture-MS), EMC4 (Affinity Capture-MS)

ESM2 similar proteins: A6NDH6, A6NDL8, A6NET4, A6NHG9, A6NKK0, A6NMS3, P0DN80, P23268, P34982, P35898, Q60887, Q60892, Q7TRF3, Q7TS48, Q8NG80, Q8NG85, Q8NGA0, Q8NGE2, Q8NGF7, Q8NGI8, Q8NGL4, Q8NGS5, Q8NGU1, Q8NGU2, Q8NGV6, Q8NGV7, Q8NGY2, Q8NGY6, Q8NGY9, Q8NH16, Q8NH92, Q8NHB7, Q8NHB8, Q8NHC5, Q8NHC6, Q8NHC7, Q8VEX5, Q8VEX6, Q8VF13, Q8VFB9

Diamond homologs: A3KFT3, A6NH00, A6NM03, O43749, O43869, O95006, O95371, O95918, P0C7N1, P0C7N5, P0C7T2, P0DN81, P23274, P23275, P30955, P34984, P47890, P58181, P70526, Q13607, Q5TZ20, Q60880, Q6IEZ7, Q6IF00, Q6UXT6, Q8N349, Q8NG75, Q8NG76, Q8NG77, Q8NG80, Q8NG81, Q8NG83, Q8NG84, Q8NG85, Q8NG95, Q8NG97, Q8NGF4, Q8NGH3, Q8NGQ1, Q8NGR2

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	41
Likely benign	6
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

381 predictions. Top by Δscore:

Variant	Effect	Δscore
17:3198271:T:TA	acceptor_gain	0.7500
17:3197564:G:GT	donor_gain	0.7200
17:3197781:G:T	donor_gain	0.7000
17:3198340:GAT:G	donor_gain	0.7000
17:3197574:G:GG	donor_gain	0.6900
17:3198171:TTCA:T	acceptor_loss	0.6900
17:3198173:CAGG:C	acceptor_loss	0.6900
17:3198174:AGGT:A	acceptor_loss	0.6900
17:3197573:A:AG	donor_gain	0.6800
17:3197781:G:GT	donor_gain	0.6800
17:3198169:T:G	acceptor_gain	0.6800
17:3198267:ATTAT:A	acceptor_gain	0.6700
17:3198383:A:AG	acceptor_gain	0.6700
17:3198384:G:GG	acceptor_gain	0.6700
17:3197564:G:T	donor_gain	0.6500
17:3198277:AAC:A	acceptor_gain	0.6500
17:3198343:G:GG	donor_gain	0.6400
17:3197805:G:GT	donor_gain	0.6300
17:3197694:T:G	donor_gain	0.6200
17:3198279:C:CA	acceptor_gain	0.6200
17:3198338:GTGAT:G	donor_gain	0.6200
17:3198384:GTCT:G	acceptor_gain	0.6200
17:3198270:AT:A	acceptor_gain	0.6100
17:3197589:A:AG	donor_gain	0.6000
17:3197606:A:AG	donor_gain	0.6000
17:3197721:T:A	acceptor_gain	0.5900
17:3198187:A:AG	acceptor_gain	0.5900
17:3198188:G:GG	acceptor_gain	0.5900
17:3198254:G:GG	donor_gain	0.5900
17:3197575:TCAGC:T	donor_gain	0.5800

AlphaMissense

2046 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:3198020:T:C	F168L	0.923
17:3198022:C:A	F168L	0.923
17:3198022:C:G	F168L	0.923
17:3198047:T:C	F177L	0.865
17:3198049:C:A	F177L	0.865
17:3198049:C:G	F177L	0.865
17:3197552:T:C	F12L	0.863
17:3197554:T:A	F12L	0.863
17:3197554:T:G	F12L	0.863
17:3197852:A:C	S112R	0.805
17:3197854:C:A	S112R	0.805
17:3197854:C:G	S112R	0.805
17:3197818:G:C	Q100H	0.800
17:3197818:G:T	Q100H	0.800
17:3198072:T:C	L185P	0.798
17:3198383:A:C	S289R	0.795
17:3198385:T:A	S289R	0.795
17:3198385:T:G	S289R	0.795
17:3198053:T:A	C179S	0.780
17:3198054:G:C	C179S	0.780
17:3198069:T:C	L184S	0.780
17:3197553:T:C	F12S	0.770
17:3198021:T:G	F168C	0.762
17:3197615:T:C	C33R	0.751
17:3197609:T:C	F31L	0.750
17:3197611:T:A	F31L	0.750
17:3197611:T:G	F31L	0.750
17:3197963:T:A	W149R	0.728
17:3197963:T:C	W149R	0.728
17:3197553:T:G	F12C	0.724

dbSNP variants (sampled 300 via entrez): RS1000481817 (17:3197286 C>A), RS1001140574 (17:3198776 A>G), RS1001805176 (17:3196259 T>A,G), RS1003629333 (17:3196466 T>C), RS1005762278 (17:3196755 C>G,T), RS1006355699 (17:3195551 A>G), RS1006440504 (17:3198130 C>T), RS1007154656 (17:3195859 A>G), RS1007855885 (17:3198701 G>A,C), RS1008914345 (17:3196886 T>C), RS1009233439 (17:3197210 G>A,C), RS1009287223 (17:3197424 T>A), RS1009869610 (17:3195891 G>A,C,T), RS1010334536 (17:3195622 A>G), RS1013049355 (17:3197726 G>A)

Disease associations

OMIM: gene MIM:618047 | 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

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
citronellal	affects binding, increases expression	3
citronellol	affects binding	1
CGP 52608	affects binding, increases reaction	1
Resveratrol	affects cotreatment, decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation	1
Camptothecin	decreases response to substance	1
Plant Extracts	affects cotreatment, decreases expression	1
Asbestos, Crocidolite	affects expression	1

Clinical trials (associated diseases)

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