QTRT2
gene geneOn this page
Also known as FLJ12960
Summary
QTRT2 (queuine tRNA-ribosyltransferase accessory subunit 2, HGNC:25771) is a protein-coding gene on chromosome 3q13.31, encoding Queuine tRNA-ribosyltransferase accessory subunit 2 (Q9H974). Non-catalytic subunit of the queuine tRNA-ribosyltransferase (TGT) that catalyzes the base-exchange of a guanine (G) residue with queuine (Q) at position 34 (anticodon wobble position) in tRNAs with GU(N) anticodons (tRNA-Asp, -Asn, -His and -Tyr), resulting in the hypermodified….
This gene encodes a subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizing the 7-deazaguanosine queuosine, which is found in tRNAs that code for asparagine, aspartic acid, histidine, and tyrosine. The encoded protein may play a role in the queuosine 5’-monophosphate salvage pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
Source: NCBI Gene 79691 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 21 total
- Druggable target: yes
- MANE Select transcript:
NM_024638
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25771 |
| Approved symbol | QTRT2 |
| Name | queuine tRNA-ribosyltransferase accessory subunit 2 |
| Location | 3q13.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ12960 |
| Ensembl gene | ENSG00000151576 |
| Ensembl biotype | protein_coding |
| Entrez | 79691 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 12 protein_coding, 7 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000281273, ENST00000460163, ENST00000462869, ENST00000462966, ENST00000466050, ENST00000466870, ENST00000467703, ENST00000472599, ENST00000479882, ENST00000482307, ENST00000483272, ENST00000485050, ENST00000488665, ENST00000490183, ENST00000493014, ENST00000495782, ENST00000929108, ENST00000929109, ENST00000929110, ENST00000929111, ENST00000949860
RefSeq mRNA: 4 — MANE Select: NM_024638
NM_001256835, NM_001256836, NM_001256837, NM_024638
CCDS: CCDS33828, CCDS58844, CCDS58845, CCDS58846
Canonical transcript exons
ENST00000281273 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001000445 | 114056999 | 114057106 |
| ENSE00001000452 | 114067987 | 114068063 |
| ENSE00001194849 | 114085673 | 114088422 |
| ENSE00001507536 | 114076743 | 114076942 |
| ENSE00001813676 | 114056737 | 114056864 |
| ENSE00003458665 | 114079906 | 114080057 |
| ENSE00003466499 | 114082677 | 114082794 |
| ENSE00003491328 | 114070626 | 114070838 |
| ENSE00003529015 | 114066228 | 114066283 |
| ENSE00003670031 | 114065237 | 114065457 |
Expression profiles
Bgee: expression breadth ubiquitous, 250 present calls, max score 91.89.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.7978 / max 263.5127, expressed in 1781 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 37988 | 11.7463 | 1763 |
| 37987 | 3.0515 | 1368 |
Top tissues by expression
275 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adrenal tissue | UBERON:0018303 | 91.89 | gold quality |
| secondary oocyte | CL:0000655 | 88.82 | gold quality |
| monocyte | CL:0000576 | 88.73 | gold quality |
| mononuclear cell | CL:0000842 | 88.54 | gold quality |
| leukocyte | CL:0000738 | 88.21 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.99 | gold quality |
| colonic epithelium | UBERON:0000397 | 87.21 | gold quality |
| calcaneal tendon | UBERON:0003701 | 86.44 | gold quality |
| oocyte | CL:0000023 | 85.52 | gold quality |
| bone marrow cell | CL:0002092 | 85.01 | gold quality |
| rectum | UBERON:0001052 | 84.41 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.66 | gold quality |
| ventricular zone | UBERON:0003053 | 83.30 | gold quality |
| right uterine tube | UBERON:0001302 | 83.29 | gold quality |
| tonsil | UBERON:0002372 | 82.56 | gold quality |
| granulocyte | CL:0000094 | 82.54 | gold quality |
| islet of Langerhans | UBERON:0000006 | 82.53 | gold quality |
| vermiform appendix | UBERON:0001154 | 82.27 | gold quality |
| lymph node | UBERON:0000029 | 81.92 | gold quality |
| adrenal gland | UBERON:0002369 | 81.43 | gold quality |
| pancreas | UBERON:0001264 | 81.37 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 81.34 | gold quality |
| body of pancreas | UBERON:0001150 | 81.30 | gold quality |
| right adrenal gland | UBERON:0001233 | 81.14 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 81.14 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 81.04 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 80.98 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 80.90 | gold quality |
| spleen | UBERON:0002106 | 80.87 | gold quality |
| gall bladder | UBERON:0002110 | 80.87 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.80 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
98 targeting QTRT2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
Literature-anchored findings (GeneRIF, showing 1)
- TGT is composed of a catalytic subunit, QTRT1, and QTRTD1, not USP14. QTRTD1 has been implicated as the salvage enzyme that generates free queuine from QMP. (PMID:20354154)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | qtrt2 | ENSDARG00000016093 |
| mus_musculus | Qtrt2 | ENSMUSG00000022704 |
| rattus_norvegicus | Qtrt2 | ENSRNOG00000060729 |
| drosophila_melanogaster | CG3434 | FBGN0036000 |
| caenorhabditis_elegans | WBGENE00006567 |
Paralogs (1): QTRT1 (ENSG00000213339)
Protein
Protein identifiers
Queuine tRNA-ribosyltransferase accessory subunit 2 — Q9H974 (reviewed: Q9H974)
Alternative names: Queuine tRNA-ribosyltransferase domain-containing protein 1
All UniProt accessions (4): Q9H974, A0A1D5RMQ5, C9JJ71, C9K0B6
UniProt curated annotations — full annotation on UniProt →
Function. Non-catalytic subunit of the queuine tRNA-ribosyltransferase (TGT) that catalyzes the base-exchange of a guanine (G) residue with queuine (Q) at position 34 (anticodon wobble position) in tRNAs with GU(N) anticodons (tRNA-Asp, -Asn, -His and -Tyr), resulting in the hypermodified nucleoside queuosine (7-(((4,5-cis-dihydroxy-2-cyclopenten-1-yl)amino)methyl)-7-deazaguanosine).
Subunit / interactions. Heterodimer of a catalytic subunit QTRT1 and an accessory subunit QTRT2.
Subcellular location. Cytoplasm. Mitochondrion outer membrane.
Cofactor. Binds 1 zinc ion per subunit.
Similarity. Belongs to the queuine tRNA-ribosyltransferase family. QTRT2 subfamily.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H974-1 | 1 | yes |
| Q9H974-2 | 2 | |
| Q9H974-3 | 3 | |
| Q9H974-4 | 4 |
RefSeq proteins (4): NP_001243764, NP_001243765, NP_001243766, NP_078914* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002616 | tRNA_ribo_trans-like | Domain |
| IPR028592 | QTRTD1 | Family |
| IPR036511 | TGT-like_sf | Homologous_superfamily |
| IPR050852 | Queuine_tRNA-ribosyltrfase | Family |
Pfam: PF01702
Enzyme classification (BRENDA):
- EC 2.4.2.64 — tRNA-guanosine34 queuine transglycosylase (BRENDA: 15 organisms, 38 substrates, 46 inhibitors, 29 Km, 21 kcat entries)
Substrate kinetics (BRENDA)
8 substrates with measured Km, best-characterized 8. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| GUANINE | 0.0001–0.105 | 12 |
| QUEUINE | 0.0003–0.0023 | 5 |
| XANTHINE | 0.0026–0.224 | 3 |
| 7-AMINOMETHYL-7-CARBAGUANINE | 0.0223–0.132 | 2 |
| GUANINE34 IN TRNA | 0.0004–0.001 | 2 |
| HYPOXANTHINE | 0.49–1.55 | 2 |
| 7-(AMINOMETHYL)-7-DEAZAGUANINE | 0.0021 | 1 |
| GUANINE34 IN TRNAASP | 0.003 | 1 |
UniProt features (52 total): helix 18, strand 17, mutagenesis site 7, binding site 4, splice variant 3, chain 1, sequence conflict 1, turn 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7NQ4 | X-RAY DIFFRACTION | 2.88 |
| 8OMR | ELECTRON MICROSCOPY | 3.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H974-F1 | 90.05 | 0.81 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (4): 351; 353; 356; 382
Mutagenesis-validated functional residues (7):
| Position | Phenotype |
|---|---|
| 121 | decreased affinity for trnas, leading to decreased formation of hypermodified nucleoside queuosine trna. |
| 152 | does not significantly affect ability to promote formation of hypermodified nucleoside queuosine trna. |
| 158–161 | decreased affinity for trnas. |
| 158 | does not significantly affect ability to promote formation of hypermodified nucleoside queuosine trna. |
| 161 | does not significantly affect ability to promote formation of hypermodified nucleoside queuosine trna. |
| 116 | does not significantly affect ability to promote formation of hypermodified nucleoside queuosine trna. |
| 118 | does not significantly affect ability to promote formation of hypermodified nucleoside queuosine trna. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6782315 | tRNA modification in the nucleus and cytosol |
MSigDB gene sets: 167 (showing top):
GOBP_TRNA_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, CAGCTG_AP4_Q5, AACWWCAANK_UNKNOWN, GOBP_RNA_MODIFICATION, MYOD_01, MYCMAX_01, GOCC_MITOCHONDRIAL_ENVELOPE, GARY_CD5_TARGETS_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_TRNA_PROCESSING, REACTOME_METABOLISM_OF_RNA, GOBP_TRNA_MODIFICATION, TGGAAA_NFAT_Q4_01, GOCC_CYTOPLASMIC_SIDE_OF_MEMBRANE
GO Biological Process (4): tRNA wobble guanine modification (GO:0002099), tRNA modification (GO:0006400), tRNA processing (GO:0008033), obsolete tRNA-guanine transglycosylation (GO:0101030)
GO Molecular Function (7): tRNA binding (GO:0000049), tRNA-guanosine(34) queuine transglycosylase activity (GO:0008479), protein homodimerization activity (GO:0042803), metal ion binding (GO:0046872), protein heterodimerization activity (GO:0046982), enzyme-substrate adaptor activity (GO:0140767), protein binding (GO:0005515)
GO Cellular Component (8): cytoplasm (GO:0005737), mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), cytoplasmic side of mitochondrial outer membrane (GO:0032473), tRNA-guanine transglycosylase complex (GO:0120507), transferase complex (GO:1990234), membrane (GO:0016020), protein-containing complex (GO:0032991)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| tRNA processing | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein dimerization activity | 2 |
| cellular anatomical structure | 2 |
| tRNA wobble base modification | 1 |
| tRNA processing | 1 |
| RNA modification | 1 |
| RNA processing | 1 |
| tRNA metabolic process | 1 |
| RNA binding | 1 |
| pentosyltransferase activity | 1 |
| catalytic activity, acting on a tRNA | 1 |
| identical protein binding | 1 |
| cation binding | 1 |
| protein-macromolecule adaptor activity | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| mitochondrial membrane | 1 |
| organelle outer membrane | 1 |
| mitochondrial outer membrane | 1 |
| cytoplasmic side of membrane | 1 |
| transferase complex | 1 |
| catalytic complex | 1 |
| cellular_component | 1 |
Protein interactions and networks
STRING
1260 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| QTRT2 | QTRT1 | Q9BXR0 | 894 |
| QTRT2 | TRDMT1 | O14717 | 642 |
| QTRT2 | GTPBP3 | Q969Y2 | 625 |
| QTRT2 | TRIT1 | Q9H3H1 | 541 |
| QTRT2 | TRMU | O75648 | 538 |
| QTRT2 | PUS3 | Q9BZE2 | 519 |
| QTRT2 | TRMT5 | Q32P41 | 505 |
| QTRT2 | YRDC | Q86U90 | 495 |
| QTRT2 | CDK5RAP1 | Q96SZ6 | 485 |
| QTRT2 | MTO1 | Q9Y2Z2 | 481 |
| QTRT2 | NSUN3 | Q9H649 | 478 |
| QTRT2 | PRR29 | P0C7W0 | 476 |
| QTRT2 | NSUN2 | Q08J23 | 464 |
| QTRT2 | CTU1 | Q7Z7A3 | 464 |
| QTRT2 | RPUSD2 | Q8IZ73 | 456 |
IntAct
27 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| QTRT2 | QTRT1 | psi-mi:“MI:0407”(direct interaction) | 0.560 |
| THUMPD1 | YBX1 | psi-mi:“MI:0914”(association) | 0.530 |
| DOK3 | TPP2 | psi-mi:“MI:0914”(association) | 0.530 |
| IGHA1 | PLG | psi-mi:“MI:0914”(association) | 0.350 |
| IGHG1 | PDPK1 | psi-mi:“MI:0914”(association) | 0.350 |
| ALB | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| ALB | SH3BP5 | psi-mi:“MI:0914”(association) | 0.350 |
| PB2 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| P2RY6 | RAVER1 | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| DOK3 | BLTP3B | psi-mi:“MI:0914”(association) | 0.350 |
| TFPT | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| SNX21 | ACOT8 | psi-mi:“MI:0914”(association) | 0.350 |
| TFPT | CCP110 | psi-mi:“MI:0914”(association) | 0.350 |
| DOK3 | HSPA8 | psi-mi:“MI:0914”(association) | 0.350 |
| THUMPD1 | H2AX | psi-mi:“MI:0914”(association) | 0.350 |
| SPHK1 | ALDH3B1 | psi-mi:“MI:0914”(association) | 0.350 |
| QTRT2 | PGM3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| QTRT2 | BDH1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| QTRT2 | MTARC1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| CLU | QTRT2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (43): QTRT1 (Co-fractionation), MARC1 (Affinity Capture-MS), PGM3 (Affinity Capture-MS), BDH1 (Affinity Capture-MS), QTRTD1 (Affinity Capture-MS), QTRTD1 (Affinity Capture-RNA), QTRTD1 (Affinity Capture-MS), QTRTD1 (Affinity Capture-MS), QTRTD1 (Affinity Capture-MS), QTRTD1 (Affinity Capture-MS), QTRTD1 (Proximity Label-MS), QTRTD1 (Affinity Capture-MS), QTRTD1 (Affinity Capture-MS), QTRTD1 (Proximity Label-MS), QTRTD1 (Affinity Capture-MS)
ESM2 similar proteins: A0AVT1, A1L1C5, A1L259, A2RTX5, A3KMX8, A5PJD0, A6H630, A6NGE7, B8ZXI1, O60678, O70467, O75879, P32455, P32456, Q0V9S0, Q0ZDF7, Q22017, Q283N4, Q2KHV5, Q4R526, Q4R646, Q58EM4, Q5D1D6, Q5R998, Q5RBE1, Q5ZIE6, Q61107, Q68EH8, Q6AXB1, Q6AYT5, Q6DJ95, Q6DJA3, Q6ING7, Q6NTW6, Q6PA41, Q6ZN66, Q7SXP2, Q7T010, Q8BIJ6, Q8BLY2
Diamond homologs: A1TVN0, A1VJ15, A1WCK2, A2RHN5, A2SM97, A3N087, A4IYF8, A4J541, A5D3G6, A5IM22, A6Q906, A7NBL6, A8FFQ9, A8GAM5, A8GUA5, A8ZRX7, A9HBJ2, A9KHU4, B0BP03, B0K0M1, B0K959, B0WAN0, B1I4K8, B1LB70, B1XWG6, B2SHD4, B3GXF8, B3MA91, B3NCH1, B4H1X9, B4HL48, B4IXD3, B4KXI8, B4LFW2, B4N549, B4PEV9, B7Q5K1, B8I6M0, B8ZXI1, B9E716
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
21 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 4 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3233 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:114008494:A:C | donor_gain | 1.0000 |
| 3:114018688:C:A | donor_gain | 1.0000 |
| 3:114018867:CA:C | acceptor_gain | 1.0000 |
| 3:114018869:C:CC | acceptor_gain | 1.0000 |
| 3:114034920:CTTA:C | donor_loss | 1.0000 |
| 3:114034921:TTA:T | donor_loss | 1.0000 |
| 3:114034922:TAC:T | donor_loss | 1.0000 |
| 3:114034923:A:AC | donor_gain | 1.0000 |
| 3:114034923:A:AG | donor_loss | 1.0000 |
| 3:114034924:C:CC | donor_gain | 1.0000 |
| 3:114034924:CA:C | donor_gain | 1.0000 |
| 3:114035006:T:TA | donor_gain | 1.0000 |
| 3:114035147:ACC:A | acceptor_loss | 1.0000 |
| 3:114036571:T:TA | donor_gain | 1.0000 |
| 3:114036604:CCA:C | donor_loss | 1.0000 |
| 3:114036605:CA:C | donor_loss | 1.0000 |
| 3:114036606:ACCT:A | donor_loss | 1.0000 |
| 3:114036607:CC:C | donor_loss | 1.0000 |
| 3:114036607:CCTG:C | donor_gain | 1.0000 |
| 3:114036621:ATCT:A | donor_gain | 1.0000 |
| 3:114036622:T:C | donor_gain | 1.0000 |
| 3:114036782:TAAAT:T | acceptor_gain | 1.0000 |
| 3:114036783:AAAT:A | acceptor_gain | 1.0000 |
| 3:114036784:AAT:A | acceptor_gain | 1.0000 |
| 3:114036785:AT:A | acceptor_gain | 1.0000 |
| 3:114036786:TC:T | acceptor_loss | 1.0000 |
| 3:114036787:C:A | acceptor_loss | 1.0000 |
| 3:114036787:C:CC | acceptor_gain | 1.0000 |
| 3:114036797:C:CT | acceptor_gain | 1.0000 |
| 3:114036798:A:T | acceptor_gain | 1.0000 |
AlphaMissense
2704 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:114079976:A:C | S273R | 0.995 |
| 3:114079978:T:A | S273R | 0.995 |
| 3:114079978:T:G | S273R | 0.995 |
| 3:114070789:G:C | R166P | 0.992 |
| 3:114076845:T:C | F217L | 0.991 |
| 3:114076847:C:A | F217L | 0.991 |
| 3:114076847:C:G | F217L | 0.991 |
| 3:114085805:C:A | N383K | 0.989 |
| 3:114085805:C:G | N383K | 0.989 |
| 3:114065391:T:C | L45P | 0.988 |
| 3:114076846:T:C | F217S | 0.987 |
| 3:114085756:T:C | L367P | 0.987 |
| 3:114080013:C:A | A285D | 0.985 |
| 3:114076809:T:C | S205P | 0.982 |
| 3:114076924:T:C | L243P | 0.982 |
| 3:114076768:G:A | G191E | 0.981 |
| 3:114076843:G:A | G216D | 0.981 |
| 3:114065294:C:A | R13S | 0.980 |
| 3:114076812:G:C | A206P | 0.980 |
| 3:114070783:T:A | V164D | 0.979 |
| 3:114079906:G:C | R249S | 0.978 |
| 3:114079906:G:T | R249S | 0.978 |
| 3:114065354:T:C | C33R | 0.977 |
| 3:114076831:G:C | R212P | 0.977 |
| 3:114085771:A:T | E372V | 0.977 |
| 3:114076779:G:C | G195R | 0.976 |
| 3:114079964:G:C | D269H | 0.975 |
| 3:114080016:T:C | L286P | 0.975 |
| 3:114076842:G:C | G216R | 0.974 |
| 3:114085724:T:G | C356W | 0.974 |
dbSNP variants (sampled 300 via entrez): RS1000030638 (3:114070244 A>G), RS1000304967 (3:114064848 A>G), RS1000527576 (3:114075351 C>T), RS1000602419 (3:114056069 A>G), RS1000639549 (3:114075521 T>C,G), RS1000769649 (3:114081380 C>G), RS1000952066 (3:114054738 A>C), RS1001131673 (3:114080787 A>C,G), RS1001135552 (3:114069072 T>A), RS1001310084 (3:114087538 C>A), RS1001394299 (3:114055050 C>T), RS1001780835 (3:114068583 G>A,T), RS1001782142 (3:114079805 T>C), RS1001794027 (3:114060313 T>C), RS1001833422 (3:114069026 C>G,T)
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: yes
ChEMBL targets (1): CHEMBL6067252 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 9.39 | Kd | 0.411 | nM | CHEMBL5653589 |
| 9.04 | ED50 | 0.907 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149166: Binding affinity to human QTRTD1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0004 | uM |
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| trichostatin A | affects expression | 1 |
| sodium arsenite | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| bisphenol S | decreases methylation | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cannabidiol | affects cotreatment, decreases expression | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Cuprizone | affects cotreatment, decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Dietary Carbohydrates | increases expression | 1 |
| Diethylstilbestrol | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Estradiol | increases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | affects expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Cadmium Chloride | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652208 | Binding | Binding affinity to human QTRTD1 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.