OR2T12

Summary

OR2T12 (olfactory receptor family 2 subfamily T member 12, HGNC:19592) is a protein-coding gene on chromosome 1q44, encoding Olfactory receptor 2T12 (Q8NG77). 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 127064 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 57 total
• MANE Select transcript: NM_001004692

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19592
Approved symbol	OR2T12
Name	olfactory receptor family 2 subfamily T member 12
Location	1q44
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000177201
Ensembl biotype	protein_coding
Entrez	127064

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000641276

RefSeq mRNA: 2 — MANE Select: NM_001004692 NM_001004692, NM_001412178

CCDS: CCDS31110

Canonical transcript exons

ENST00000641276 — 3 exons

Exon	Start	End
ENSE00003811517	248301373	248301553
ENSE00003813239	248303346	248303424
ENSE00003813963	248290139	248295586

Expression profiles

Bgee: expression breadth tissue_specific, 1 present calls, max score 61.64.

Top tissues by expression

126 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	61.64	gold quality
bone marrow cell	CL:0002092	44.06	gold quality
stromal cell of endometrium	CL:0002255	38.59	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ganglionic eminence	UBERON:0004023	37.11	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
sural nerve	UBERON:0015488	35.91	gold quality
bone marrow	UBERON:0002371	35.78	gold quality
skeletal muscle tissue	UBERON:0001134	34.73	gold quality
right coronary artery	UBERON:0001625	34.40	gold quality
muscle tissue	UBERON:0002385	33.24	gold quality
leukocyte	CL:0000738	32.37	gold quality
prefrontal cortex	UBERON:0000451	32.30	gold quality
monocyte	CL:0000576	32.29	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
tonsil	UBERON:0002372	31.69	gold quality
liver	UBERON:0002107	30.51	gold quality
primary visual cortex	UBERON:0002436	29.98	gold quality
lymph node	UBERON:0000029	29.88	gold quality
placenta	UBERON:0001987	29.20	gold quality
right uterine tube	UBERON:0001302	28.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	28.70	gold quality
gall bladder	UBERON:0002110	28.37	gold quality
duodenum	UBERON:0002114	28.14	gold quality
urinary bladder	UBERON:0001255	27.79	gold quality
islet of Langerhans	UBERON:0000006	27.22	gold quality
corpus callosum	UBERON:0002336	27.18	gold quality
superior frontal gyrus	UBERON:0002661	26.76	gold quality
calcaneal tendon	UBERON:0003701	26.48	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.41
E-GEOD-110499	no	141.30

Regulation

Is transcription factor: no

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or2t44	ENSMUSG00000059504
rattus_norvegicus	Or2t44b	ENSRNOG00000033492
rattus_norvegicus	Or2t44	ENSRNOG00000084778
rattus_norvegicus	Olr1454	ENSRNOG00000089012

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), 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), OR2T10 (ENSG00000184022)

Protein

Protein identifiers

Olfactory receptor 2T12 — Q8NG77 (reviewed: Q8NG77)

Alternative names: Olfactory receptor OR1-57

All UniProt accessions (1): Q8NG77

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 (2): NP_001004692, NP_001399107 (=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (23 total): topological domain 8, transmembrane region 7, sequence variant 5, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NG77-F1	88.59	0.62

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): 95–187

Glycosylation sites (1): 17

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 17 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, chr1q44, 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, MEBARKI_HCC_PROGENITOR_FZD8CRD_UP, 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

114 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2T12	CCDC144NL	Q6NUI1	540
OR2T12	ZNF880	Q6PDB4	507
OR2T12	MOB3C	Q70IA8	474
OR2T12	ZNF117	Q03924	446
OR2T12	CFAP74	Q9C0B2	434
OR2T12	EHMT1	Q9H9B1	431
OR2T12	TMEM63C	Q9P1W3	377
OR2T12	NOP16	Q9Y3C1	371
OR2T12	CDH4	P55283	353
OR2T12	IGFN1	Q86VF2	351
OR2T12	BAIAP3	O94812	348
OR2T12	IGSF3	O75054	348
OR2T12	DLGAP2	Q9P1A6	308
OR2T12	SIN3B	O75182	290
OR2T12	A6NDT3	A6NDT3	288

IntAct

2 interactions, top by confidence:

A	B	Type	Score
OR2T33	ANKLE2	psi-mi:“MI:0914”(association)	0.350

BioGRID (1): OR2T12 (Affinity Capture-MS)

ESM2 similar proteins: A6NH00, O60403, O95371, O95918, P23266, P23267, P23275, P34984, P47881, P47888, P47893, Q15619, Q5JQS5, Q5TZ20, Q60885, Q60891, Q60894, Q6IEZ7, Q7Z3T1, Q8N628, Q8NG76, Q8NG77, Q8NG97, Q8NGA6, Q8NGC4, Q8NGE3, Q8NGE9, Q8NGQ2, Q8NGQ4, Q8NGR4, Q8NGS0, Q8NGT9, Q8NGX9, Q8NGY1, Q8NGZ6, Q8NH02, Q8NH03, Q8NH04, Q8NHB1, Q8VGD6

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	54
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

463 predictions. Top by Δscore:

Variant	Effect	Δscore
1:248294930:C:CT	acceptor_gain	0.7700
1:248294987:A:AC	donor_gain	0.7700
1:248294988:C:CC	donor_gain	0.7700
1:248294931:A:C	acceptor_gain	0.7400
1:248295032:CCAA:C	donor_gain	0.7300
1:248294713:C:CC	acceptor_gain	0.7100
1:248294931:A:AC	acceptor_gain	0.7100
1:248295260:C:CT	donor_gain	0.7000
1:248295026:AACG:A	donor_loss	0.6900
1:248295027:ACG:A	donor_loss	0.6900
1:248295028:CGC:C	donor_loss	0.6900
1:248295029:GCA:G	donor_loss	0.6900
1:248295030:C:CC	donor_loss	0.6900
1:248295031:A:AC	donor_gain	0.6900
1:248295031:ACC:A	donor_loss	0.6900
1:248295032:C:CC	donor_gain	0.6900
1:248295025:AAAC:A	donor_loss	0.6800
1:248295259:C:CT	donor_gain	0.6800
1:248295255:TCCAC:T	donor_gain	0.6700
1:248295256:CCACC:C	donor_gain	0.6700
1:248294709:CACA:C	acceptor_gain	0.6600
1:248294772:AT:A	donor_gain	0.6600
1:248294711:CA:C	acceptor_gain	0.6500
1:248294944:A:C	acceptor_gain	0.6500
1:248294891:C:CC	acceptor_gain	0.6400
1:248294929:CCA:C	acceptor_gain	0.6400
1:248294931:A:T	acceptor_gain	0.6400
1:248294988:CATGG:C	donor_gain	0.6400
1:248295070:TGTGC:T	donor_gain	0.6400
1:248295409:A:C	donor_gain	0.6400

AlphaMissense

2096 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:248295549:A:C	F10L	0.871
1:248295549:A:T	F10L	0.871
1:248295551:A:G	F10L	0.871
1:248294712:A:C	S289R	0.850
1:248294712:A:T	S289R	0.850
1:248294714:T:G	S289R	0.850
1:248295000:G:C	F193L	0.846
1:248295000:G:T	F193L	0.846
1:248295002:A:G	F193L	0.846
1:248294832:A:C	F249L	0.844
1:248294832:A:T	F249L	0.844
1:248294834:A:G	F249L	0.844
1:248295531:A:C	F16L	0.824
1:248295531:A:T	F16L	0.824
1:248295533:A:G	F16L	0.824
1:248295054:G:C	F175L	0.819
1:248295054:G:T	F175L	0.819
1:248295056:A:G	F175L	0.819
1:248295051:G:C	F176L	0.806
1:248295051:G:T	F176L	0.806
1:248295053:A:G	F176L	0.806
1:248294754:G:C	F275L	0.783
1:248294754:G:T	F275L	0.783
1:248294756:A:G	F275L	0.783
1:248295231:C:A	M116I	0.766
1:248295231:C:G	M116I	0.766
1:248295231:C:T	M116I	0.766
1:248295501:G:C	F26L	0.749
1:248295501:G:T	F26L	0.749
1:248295503:A:G	F26L	0.749

dbSNP variants (sampled 300 via entrez): RS1000141808 (1:248299995 A>G), RS1000198409 (1:248296104 G>A), RS1000401608 (1:248290885 G>A,C), RS1000494173 (1:248299784 A>C), RS1000547542 (1:248296919 G>A), RS1000875347 (1:248291199 A>C,G), RS1000875848 (1:248296112 T>C), RS1001111960 (1:248304976 G>A), RS1001329252 (1:248300208 T>A), RS1001482586 (1:248304847 C>G,T), RS1001483185 (1:248296533 T>G), RS1001566810 (1:248301541 C>T), RS1001593302 (1:248291301 A>G), RS1001867501 (1:248297338 C>T), RS1002042448 (1:248291580 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
GCST005547_1	Major depressive disorder	4.000000e-20

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation	1
mono-(2-ethylhexyl)phthalate	increases expression	1
Valproic Acid	decreases methylation	1

Clinical trials (associated diseases)

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