OR2T4
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Also known as OR2T4Q
Summary
OR2T4 (olfactory receptor family 2 subfamily T member 4, HGNC:15016) is a protein-coding gene on chromosome 1q44, encoding Olfactory receptor 2T4 (Q8NH00). 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 127074 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 50 total
- MANE Select transcript:
NM_001004696
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15016 |
| Approved symbol | OR2T4 |
| Name | olfactory receptor family 2 subfamily T member 4 |
| Location | 1q44 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | OR2T4Q |
| Ensembl gene | ENSG00000196944 |
| Ensembl biotype | protein_coding |
| Entrez | 127074 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000366473
RefSeq mRNA: 1 — MANE Select: NM_001004696
NM_001004696
CCDS: CCDS31113
Canonical transcript exons
ENST00000366473 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002410076 | 248361665 | 248362627 |
Expression profiles
Bgee: expression breadth tissue_specific, 9 present calls, max score 40.56.
Top tissues by expression
113 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 40.56 | silver quality |
| lower esophagus mucosa | UBERON:0035834 | 39.36 | gold quality |
| ganglionic eminence | UBERON:0004023 | 37.50 | silver quality |
| colonic epithelium | UBERON:0000397 | 37.20 | gold quality |
| prefrontal cortex | UBERON:0000451 | 36.99 | gold quality |
| ventricular zone | UBERON:0003053 | 36.48 | gold quality |
| bone marrow cell | CL:0002092 | 36.16 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 34.93 | gold quality |
| muscle tissue | UBERON:0002385 | 32.20 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 32.15 | gold quality |
| frontal cortex | UBERON:0001870 | 31.98 | gold quality |
| bone marrow | UBERON:0002371 | 31.74 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 31.18 | silver quality |
| sural nerve | UBERON:0015488 | 30.93 | gold quality |
| right uterine tube | UBERON:0001302 | 30.78 | gold quality |
| stromal cell of endometrium | CL:0002255 | 29.87 | gold quality |
| cerebral cortex | UBERON:0000956 | 29.77 | gold quality |
| primary visual cortex | UBERON:0002436 | 29.37 | silver quality |
| liver | UBERON:0002107 | 28.92 | gold quality |
| monocyte | CL:0000576 | 28.18 | gold quality |
| duodenum | UBERON:0002114 | 28.14 | gold quality |
| leukocyte | CL:0000738 | 28.13 | gold quality |
| urinary bladder | UBERON:0001255 | 27.94 | gold quality |
| lymph node | UBERON:0000029 | 27.57 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 27.22 | gold quality |
| tonsil | UBERON:0002372 | 27.05 | gold quality |
| substantia nigra | UBERON:0002038 | 27.00 | silver quality |
| blood | UBERON:0000178 | 26.86 | gold quality |
| islet of Langerhans | UBERON:0000006 | 26.55 | gold quality |
| vermiform appendix | UBERON:0001154 | 26.42 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.05 |
Regulation
Is transcription factor: no
Cross-species orthologs
14 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Or2t48 | ENSMUSG00000050818 |
| mus_musculus | Or2t47 | ENSMUSG00000057654 |
| mus_musculus | Or2t49 | ENSMUSG00000058807 |
| mus_musculus | Or2t43 | ENSMUSG00000059279 |
| mus_musculus | Or2t46 | ENSMUSG00000060765 |
| mus_musculus | Or2t29 | ENSMUSG00000064252 |
| rattus_norvegicus | Or2t48 | ENSRNOG00000068864 |
| rattus_norvegicus | Or2t47 | ENSRNOG00000072569 |
| rattus_norvegicus | ENSRNOG00000074273 | |
| rattus_norvegicus | Or2t47e | ENSRNOG00000076869 |
| rattus_norvegicus | Or2t48d | ENSRNOG00000079170 |
| rattus_norvegicus | Or2t47d | ENSRNOG00000079612 |
| rattus_norvegicus | ENSRNOG00000081472 | |
| rattus_norvegicus | Olr1428 | ENSRNOG00000083977 |
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 2T4 — Q8NH00 (reviewed: Q8NH00)
Alternative names: Olfactory receptor OR1-60
All UniProt accessions (1): A0A2C9F2M9
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_001004696* (*=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, glycosylation site 3, chain 1, disulfide bond 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NH00-F1 | 83.85 | 0.61 |
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): 129–221
Glycosylation sites (3): 31, 37, 218
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: 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, SRSF9_TARGET_GENES, 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-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
188 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| OR2T4 | C1orf94 | Q6P1W5 | 580 |
| OR2T4 | ZNF850 | A8MQ14 | 475 |
| OR2T4 | FAM47C | Q5HY64 | 450 |
| OR2T4 | NHSL2 | Q5HYW2 | 419 |
| OR2T4 | FAM186A | A6NE01 | 418 |
| OR2T4 | TMEM106C | Q9BVX2 | 398 |
| OR2T4 | KLHL23 | Q8NBE8 | 377 |
| OR2T4 | ANKRD36C | Q5JPF3 | 370 |
| OR2T4 | KNDC1 | Q76NI1 | 360 |
| OR2T4 | EML6 | Q6ZMW3 | 349 |
| OR2T4 | TAS2R43 | P59537 | 348 |
| OR2T4 | RFLNA | Q6ZTI6 | 337 |
| OR2T4 | MROH2B | Q7Z745 | 323 |
| OR2T4 | CNKSR3 | Q6P9H4 | 320 |
| OR2T4 | SLC10A7 | Q0GE19 | 311 |
IntAct
0 interactions, top by confidence:
ESM2 similar proteins: A3KFT3, O76100, O95222, P23269, P23272, P23274, P30955, P34986, P37071, P70526, Q15622, Q6IEZ7, Q6IF00, Q6IF42, Q8N146, Q8NG81, Q8NG83, Q8NGC7, Q8NGC8, Q8NGE0, Q8NGE7, Q8NGG7, Q8NGI9, Q8NGL3, Q8NGP8, Q8NGQ2, Q8NGQ6, Q8NGS0, Q8NGS2, Q8NGS3, Q8NGS4, Q8NGX2, Q8NGZ0, Q8NGZ9, Q8NH00, Q8NH01, Q8NH02, Q8NH04, Q8NH74, Q8NH80
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
50 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 48 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
244 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:248362421:A:AG | donor_gain | 0.6900 |
| 1:248362417:G:GA | donor_gain | 0.6800 |
| 1:248362313:A:AG | donor_gain | 0.6300 |
| 1:248362183:T:TA | acceptor_gain | 0.6100 |
| 1:248362416:T:TA | donor_gain | 0.6100 |
| 1:248362214:GA:G | donor_gain | 0.5900 |
| 1:248362215:AA:A | donor_gain | 0.5900 |
| 1:248362431:ATG:A | acceptor_gain | 0.5900 |
| 1:248362309:G:GA | donor_gain | 0.5800 |
| 1:248362213:TG:T | donor_gain | 0.5700 |
| 1:248362354:C:CA | acceptor_gain | 0.5700 |
| 1:248362419:TC:T | donor_gain | 0.5700 |
| 1:248362431:AT:A | acceptor_gain | 0.5700 |
| 1:248362214:G:GT | donor_gain | 0.5600 |
| 1:248362492:GATG:G | donor_gain | 0.5500 |
| 1:248362483:G:GT | donor_gain | 0.5400 |
| 1:248362491:TGATG:T | donor_loss | 0.5400 |
| 1:248362493:ATG:A | donor_loss | 0.5400 |
| 1:248362494:TGGT:T | donor_loss | 0.5400 |
| 1:248362495:GGT:G | donor_loss | 0.5400 |
| 1:248362496:G:GA | donor_loss | 0.5400 |
| 1:248362497:T:G | donor_loss | 0.5400 |
| 1:248362487:G:GT | donor_gain | 0.5200 |
| 1:248362272:T:G | donor_gain | 0.5100 |
| 1:248361763:G:GA | donor_gain | 0.5000 |
| 1:248362378:G:GT | donor_gain | 0.5000 |
| 1:248362385:GCC:G | donor_gain | 0.5000 |
| 1:248362420:C:A | donor_gain | 0.5000 |
| 1:248361704:T:TA | donor_gain | 0.4900 |
| 1:248362432:T:TA | acceptor_gain | 0.4900 |
AlphaMissense
2112 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:248362547:A:C | S323R | 0.927 |
| 1:248362549:T:A | S323R | 0.927 |
| 1:248362549:T:G | S323R | 0.927 |
| 1:248362041:G:C | R154P | 0.924 |
| 1:248361710:T:C | F44L | 0.877 |
| 1:248361712:C:A | F44L | 0.877 |
| 1:248361712:C:G | F44L | 0.877 |
| 1:248362427:T:C | F283L | 0.877 |
| 1:248362429:C:A | F283L | 0.877 |
| 1:248362429:C:G | F283L | 0.877 |
| 1:248361873:T:C | L98S | 0.863 |
| 1:248362534:C:A | N318K | 0.860 |
| 1:248362534:C:G | N318K | 0.860 |
| 1:248362118:T:C | C180R | 0.859 |
| 1:248362121:T:A | W181R | 0.857 |
| 1:248362121:T:C | W181R | 0.857 |
| 1:248362030:G:A | M150I | 0.848 |
| 1:248362030:G:C | M150I | 0.848 |
| 1:248362030:G:T | M150I | 0.848 |
| 1:248362205:T:C | F209L | 0.839 |
| 1:248362207:C:A | F209L | 0.839 |
| 1:248362207:C:G | F209L | 0.839 |
| 1:248361802:T:A | N74K | 0.833 |
| 1:248361802:T:G | N74K | 0.833 |
| 1:248362338:T:C | I253T | 0.833 |
| 1:248362555:G:C | R325S | 0.832 |
| 1:248362555:G:T | R325S | 0.832 |
| 1:248362039:C:A | D153E | 0.827 |
| 1:248362039:C:G | D153E | 0.827 |
| 1:248362410:T:C | L277P | 0.827 |
dbSNP variants (sampled 300 via entrez): RS1000480574 (1:248359978 C>G), RS1001434985 (1:248362002 G>A,T), RS1005818378 (1:248361291 A>C,G), RS1006157036 (1:248359815 C>A), RS1007002629 (1:248360068 G>A,C), RS1007661549 (1:248359867 C>A), RS1008476744 (1:248362412 A>C,G), RS1008721144 (1:248361364 G>T), RS1009065879 (1:248361531 C>G,T), RS1009791159 (1:248361243 G>A), RS1010257412 (1:248361509 C>A,T), RS1012374916 (1:248359693 A>G), RS1013043085 (1:248363020 T>C), RS1014891949 (1:248362757 C>A,T), RS1015587715 (1:248362481 G>A)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D018270 | Carcinoma, Ductal, Breast | C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390 |
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 |
|---|---|---|
| Endosulfan | increases expression, decreases reaction, decreases expression | 2 |
| hydroxyhydroquinone | increases expression | 1 |
| sulforaphane | decreases expression | 1 |
| Hydrogen Peroxide | decreases expression | 1 |
| Tetrachlorodibenzodioxin | decreases reaction, increases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
Clinical trials (associated diseases)
11 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03414970 | PHASE3 | ACTIVE_NOT_RECRUITING | Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer |
| NCT00461344 | PHASE2 | TERMINATED | Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer |
| NCT07499999 | PHASE2 | NOT_YET_RECRUITING | Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer |
| NCT00637364 | PHASE1/PHASE2 | SUSPENDED | High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain |
| NCT02779855 | PHASE1/PHASE2 | COMPLETED | Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer |
| NCT01753908 | EARLY_PHASE1 | COMPLETED | Broccoli Sprout Extract in Treating Patients With Breast Cancer |
| NCT01796041 | EARLY_PHASE1 | COMPLETED | Intraoperative Imaging of Breast Cancer With Indocyanine Green |
| NCT01208974 | Not specified | ACTIVE_NOT_RECRUITING | Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction |
| NCT01875198 | Not specified | TERMINATED | Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer |
| NCT03543397 | Not specified | UNKNOWN | MRI in Ductal Carcinoma in Situ (DCIS) |
| NCT03834532 | Not specified | COMPLETED | Living Well After Breast Surgery |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): breast ductal adenocarcinoma