OR2A12

Summary

OR2A12 (olfactory receptor family 2 subfamily A member 12, HGNC:15082) is a protein-coding gene on chromosome 7q35, encoding Olfactory receptor 2A12 (Q8NGT7). 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 346525 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 46 total
• MANE Select transcript: NM_001004135

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15082
Approved symbol	OR2A12
Name	olfactory receptor family 2 subfamily A member 12
Location	7q35
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000221858
Ensembl biotype	protein_coding
Entrez	346525

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000408949, ENST00000641592

RefSeq mRNA: 1 — MANE Select: NM_001004135 NM_001004135

CCDS: CCDS43670

Canonical transcript exons

ENST00000641592 — 2 exons

Exon	Start	End
ENSE00003813759	144086278	144086543
ENSE00003813985	144095057	144098953

Expression profiles

Bgee: expression breadth tissue_specific, 2 present calls, max score 69.55.

Top tissues by expression

116 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	69.55	gold quality
colonic epithelium	UBERON:0000397	48.82	gold quality
tonsil	UBERON:0002372	42.61	gold quality
bone marrow cell	CL:0002092	41.19	gold quality
sural nerve	UBERON:0015488	40.54	gold quality
placenta	UBERON:0001987	39.47	gold quality
cortex of kidney	UBERON:0001225	39.31	gold quality
ganglionic eminence	UBERON:0004023	39.10	gold quality
lower esophagus mucosa	UBERON:0035834	38.43	gold quality
bone marrow	UBERON:0002371	37.56	gold quality
granulocyte	CL:0000094	37.22	gold quality
endometrium	UBERON:0001295	37.19	gold quality
duodenum	UBERON:0002114	36.70	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
hindlimb stylopod muscle	UBERON:0004252	35.39	gold quality
right lobe of thyroid gland	UBERON:0001119	35.26	gold quality
skeletal muscle tissue	UBERON:0001134	34.72	gold quality
left lobe of thyroid gland	UBERON:0001120	34.70	gold quality
liver	UBERON:0002107	34.64	gold quality
muscle tissue	UBERON:0002385	34.23	gold quality
body of pancreas	UBERON:0001150	33.71	gold quality
pancreas	UBERON:0001264	33.67	gold quality
esophagus mucosa	UBERON:0002469	33.40	gold quality
uterine cervix	UBERON:0000002	33.36	gold quality
leukocyte	CL:0000738	33.07	gold quality
monocyte	CL:0000576	32.98	gold quality
smooth muscle tissue	UBERON:0001135	32.53	gold quality
mucosa of stomach	UBERON:0001199	32.33	gold quality
metanephros cortex	UBERON:0010533	31.98	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.32

Regulation

Is transcription factor: no

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or2a12	ENSMUSG00000073111

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 2A12 — Q8NGT7 (reviewed: Q8NGT7)

Alternative names: Olfactory receptor OR7-10

All UniProt accessions (1): Q8NGT7

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_001004135* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (19 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGT7-F1	86.40	0.46

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

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

82 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2A12	KLHL26	Q53HC5	574
OR2A12	SRRM5	B3KS81	505
OR2A12	FBH1	Q8NFZ0	366
OR2A12	RNASEH2C	Q8TDP1	349
OR2A12	VTI1A	Q96AJ9	329
OR2A12	EFEMP2	O95967	299
OR2A12	TRIP13	Q15645	295
OR2A12	EDEM1	Q92611	244
OR2A12	OR52W1	Q6IF63	194
OR2A12	OR56B1	Q8NGI3	176
OR2A12	CCDC88C	Q9P219	165
OR2A12	OR52M1	Q8NGK5	161
OR2A12	RNASEH2A	O75792	159
OR2A12	CNGA2	Q16280	158
OR2A12	OR10W1	Q8NGF6	125

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	44
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

249 predictions. Top by Δscore:

Variant	Effect	Δscore
7:144095281:G:GG	donor_gain	0.6100
7:144095865:GCGCC:G	acceptor_gain	0.6100
7:144095864:A:AG	acceptor_gain	0.5700
7:144095865:G:GG	acceptor_gain	0.5700
7:144095707:G:A	acceptor_gain	0.5400
7:144095939:A:AG	acceptor_gain	0.5300
7:144095940:G:GG	acceptor_gain	0.5300
7:144095112:A:T	donor_gain	0.5200
7:144095363:A:AG	donor_gain	0.5100
7:144095173:G:GT	donor_gain	0.4900
7:144095974:CAG:C	acceptor_gain	0.4900
7:144095280:T:G	donor_gain	0.4800
7:144095330:A:AG	donor_gain	0.4800
7:144095331:G:GG	donor_gain	0.4800
7:144095914:G:GT	donor_gain	0.4800
7:144095135:G:GT	donor_gain	0.4700
7:144095695:G:GA	donor_gain	0.4700
7:144095070:GTCT:G	donor_gain	0.4600
7:144095071:TCTT:T	donor_gain	0.4600
7:144095073:T:G	donor_gain	0.4600
7:144095073:T:TG	donor_gain	0.4500
7:144095694:T:TA	donor_gain	0.4400
7:144095764:C:G	acceptor_gain	0.4400
7:144095865:GC:G	acceptor_gain	0.4400
7:144095972:TACAG:T	acceptor_gain	0.4300
7:144095984:A:T	donor_gain	0.4300
7:144095940:GC:G	acceptor_gain	0.4200
7:144095174:G:GT	donor_gain	0.4100
7:144095769:T:TA	acceptor_gain	0.4100
7:144095860:T:TA	acceptor_gain	0.4100

AlphaMissense

2036 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:144095975:A:C	S290R	0.947
7:144095977:C:A	S290R	0.947
7:144095977:C:G	S290R	0.947
7:144095558:A:C	S151R	0.910
7:144095560:C:A	S151R	0.910
7:144095560:C:G	S151R	0.910
7:144095469:G:C	R121P	0.901
7:144095606:T:C	F167L	0.894
7:144095608:T:A	F167L	0.894
7:144095608:T:G	F167L	0.894
7:144095459:T:C	C118R	0.871
7:144095858:T:C	F251L	0.860
7:144095860:T:A	F251L	0.860
7:144095860:T:G	F251L	0.860
7:144095855:T:C	F250L	0.858
7:144095857:C:A	F250L	0.858
7:144095857:C:G	F250L	0.858
7:144095864:A:C	S253R	0.855
7:144095866:C:A	S253R	0.855
7:144095866:C:G	S253R	0.855
7:144095153:T:C	F16L	0.850
7:144095155:C:A	F16L	0.850
7:144095155:C:G	F16L	0.850
7:144095288:T:C	F61L	0.850
7:144095290:C:A	F61L	0.850
7:144095290:C:G	F61L	0.850
7:144095812:G:C	K235N	0.845
7:144095812:G:T	K235N	0.845
7:144095962:C:A	N285K	0.819
7:144095962:C:G	N285K	0.819

dbSNP variants (sampled 300 via entrez): RS1000002715 (7:144096262 C>T), RS1000059104 (7:144093939 C>T), RS1000303981 (7:144089833 A>G), RS1000909429 (7:144088304 G>A,C,T), RS1001020989 (7:144094748 G>A), RS1001072910 (7:144094330 T>C,G), RS1001355620 (7:144090583 G>A), RS1001374849 (7:144087935 C>T), RS1001566843 (7:144094376 G>A), RS1001841795 (7:144092719 G>A,T), RS1001976361 (7:144099159 A>C,G), RS1002411158 (7:144088734 G>C), RS1002519040 (7:144098028 A>G), RS1002926911 (7:144085099 C>T), RS1002981668 (7:144097634 G>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

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

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases methylation	1

Clinical trials (associated diseases)

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