TSNAX
gene geneOn this page
Also known as TRAXC3PO
Summary
TSNAX (translin associated factor X, HGNC:12380) is a protein-coding gene on chromosome 1q42.2, encoding Translin-associated protein X (Q99598). Acts in combination with TSN as an endonuclease involved in the activation of the RNA-induced silencing complex (RISC).
This gene encodes a protein which specifically interacts with translin, a DNA-binding protein that binds consensus sequences at breakpoint junctions of chromosomal translocations. The encoded protein contains bipartite nuclear targeting sequences that may provide nuclear transport for translin, which lacks any nuclear targeting motifs.
Source: NCBI Gene 7257 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 30 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_005999
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12380 |
| Approved symbol | TSNAX |
| Name | translin associated factor X |
| Location | 1q42.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TRAX, C3PO |
| Ensembl gene | ENSG00000116918 |
| Ensembl biotype | protein_coding |
| OMIM | 602964 |
| Entrez | 7257 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 7 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000366639, ENST00000413309, ENST00000475168, ENST00000476913, ENST00000602825, ENST00000903833, ENST00000903834, ENST00000947977, ENST00000947978, ENST00000947979
RefSeq mRNA: 1 — MANE Select: NM_005999
NM_005999
CCDS: CCDS1596
Canonical transcript exons
ENST00000366639 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003468705 | 231564528 | 231566524 |
| ENSE00003480362 | 231528669 | 231528826 |
| ENSE00003498044 | 231529255 | 231529359 |
| ENSE00003535238 | 231537213 | 231537327 |
| ENSE00003655702 | 231561128 | 231561255 |
| ENSE00003682497 | 231542481 | 231542611 |
Expression profiles
Bgee: expression breadth ubiquitous, 293 present calls, max score 96.36.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 41.3865 / max 753.4331, expressed in 1816 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 9052 | 41.3865 | 1816 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adrenal tissue | UBERON:0018303 | 96.36 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 95.38 | gold quality |
| parietal pleura | UBERON:0002400 | 95.27 | gold quality |
| secondary oocyte | CL:0000655 | 95.24 | gold quality |
| buccal mucosa cell | CL:0002336 | 95.22 | gold quality |
| pleura | UBERON:0000977 | 94.98 | gold quality |
| islet of Langerhans | UBERON:0000006 | 94.63 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 94.59 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 94.56 | gold quality |
| visceral pleura | UBERON:0002401 | 94.56 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 94.34 | gold quality |
| biceps brachii | UBERON:0001507 | 94.30 | gold quality |
| monocyte | CL:0000576 | 94.24 | gold quality |
| calcaneal tendon | UBERON:0003701 | 94.19 | gold quality |
| penis | UBERON:0000989 | 94.17 | gold quality |
| mononuclear cell | CL:0000842 | 94.13 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 94.11 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 94.10 | gold quality |
| seminal vesicle | UBERON:0000998 | 94.02 | gold quality |
| vastus lateralis | UBERON:0001379 | 94.00 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 93.99 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 93.94 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 93.94 | gold quality |
| leukocyte | CL:0000738 | 93.86 | gold quality |
| corpus epididymis | UBERON:0004359 | 93.86 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 93.58 | gold quality |
| tendon | UBERON:0000043 | 93.44 | gold quality |
| quadriceps femoris | UBERON:0001377 | 93.41 | gold quality |
| gastrocnemius | UBERON:0001388 | 93.24 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 93.16 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.17 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F4
miRNA regulators (miRDB)
130 targeting TSNAX, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| 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-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
Literature-anchored findings (GeneRIF, showing 16)
- TRAX is post-transcriptionally stabilized by TB-RBP and both proteins are needed for normal cell proliferation (PMID:14711818)
- One region in TRAX showed weaker evidence for sex-specific associations of individual haplotypes with bipolar disorder in men. (PMID:15838535)
- Translin “chaperones” Trax and forms heteromeric complex that is DNA binding competent (PMID:15919079)
- The results of this suggested an association between the TSNAX-DISC1 region and both forms of affective disorders. (PMID:19255581)
- Results suggest that rs766288 in translin-associated factor X gene may play a role in the pathophysiology of female major depressive disorder in the Japanese population. (PMID:19760522)
- C3PO endonuclease is an asymmetric octamer barrel consisting of six translin and two TRAX subunits which activates RISC by degrading the Ago2-nicked passenger strand of siRNA. (PMID:21552258)
- TRAX binds to ssDNA and two regions in TRAX, designated TRAXB2 and TRAXB3, mediate nucleic acid binding activity of the trax-translin heteromeric complex. (PMID:22427937)
- Our results provide further evidence for sex-dependent effects of the TSNAX/DISC1 locus in the aetiology of schizophrenia and bipolar affective disorder (PMID:22673686)
- Data show a novel role of phospholipase Cbeta1 (PLCbeta1) in gene regulation through translin-associated factor X (TRAX) association. (PMID:22889834)
- LIS1 and TSNAX genes are not associated with susceptibility to bipolar I disorder in Chinese Han population. (PMID:24928020)
- TSNAX protein is known to form a brain enriched complex with translin, that can bind single-stranded DNA and RNA through which it is involved in protein regulation. (PMID:25043320)
- High chimeric TSNAX-DISC1 resulting from intergenic splicing is associated with endometrial carcinoma. (PMID:25239642)
- Translin and Trax control telomere-associated transcript levels in human cells in a telomere-specific fashion. (PMID:27183912)
- TRAX Provides Neuroprotection for Huntington’s Disease Via Modulating a Novel Subset of MicroRNAs. (PMID:35997316)
- Conformational alteration in glycan induces phospholipase Cbeta1 activation and angiogenesis. (PMID:36517806)
- The associations between cognitive functions and TSNAX genetic variations in patients with schizophrenia. (PMID:37030547)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tsnax | ENSDARG00000115282 |
| mus_musculus | Tsnax | ENSMUSG00000056820 |
| rattus_norvegicus | Tsnax | ENSRNOG00000049784 |
| drosophila_melanogaster | Trax | FBGN0038327 |
Paralogs (1): TSN (ENSG00000211460)
Protein
Protein identifiers
Translin-associated protein X — Q99598 (reviewed: Q99598)
Alternative names: Translin-associated factor X
All UniProt accessions (2): Q99598, Q5VVQ1
UniProt curated annotations — full annotation on UniProt →
Function. Acts in combination with TSN as an endonuclease involved in the activation of the RNA-induced silencing complex (RISC). Possible role in spermatogenesis.
Subunit / interactions. Ring-shaped heterooctamer of six TSN and two TSNAX subunits. Interacts with GOLGA3, TSNAXIP1, SUN1 and AKAP9. Interacts with the homodimeric form of C1D following gamma-radiation. Interacts with TSN and C1D in a mutually exclusive manner.
Subcellular location. Cytoplasm. Perinuclear region. Golgi apparatus. Nucleus.
Post-translational modifications. Sumoylated with SUMO1.
Similarity. Belongs to the translin family.
RefSeq proteins (1): NP_005990* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002848 | Translin_fam | Family |
| IPR016068 | Translin_N | Homologous_superfamily |
| IPR016069 | Translin_C | Homologous_superfamily |
| IPR036081 | Translin_sf | Homologous_superfamily |
Pfam: PF01997
UniProt features (18 total): helix 9, region of interest 2, binding site 2, chain 1, turn 1, compositionally biased region 1, cross-link 1, strand 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3QB5 | X-RAY DIFFRACTION | 2.95 |
| 3PJA | X-RAY DIFFRACTION | 3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q99598-F1 | 83.08 | 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.
Ligand- & substrate-binding residues (2): 129; 197
Post-translational modifications (1): 279
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-426486 | Small interfering RNA (siRNA) biogenesis |
MSigDB gene sets: 187 (showing top):
GCM_MAP4K4, HORIUCHI_WTAP_TARGETS_DN, GOMF_ENDONUCLEASE_ACTIVITY, GOMF_RNA_NUCLEASE_ACTIVITY, GOMF_NUCLEASE_ACTIVITY, GOBP_MALE_GAMETE_GENERATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOMF_RNA_ENDONUCLEASE_ACTIVITY, OCT1_06, SCHLOSSER_SERUM_RESPONSE_DN, GOMF_G_PROTEIN_COUPLED_RECEPTOR_BINDING, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GCM_NF2, GOMF_SIGNALING_RECEPTOR_BINDING, ACEVEDO_LIVER_CANCER_UP
GO Biological Process (4): spermatogenesis (GO:0007283), cell differentiation (GO:0030154), siRNA processing (GO:0030422), regulatory ncRNA-mediated post-transcriptional gene silencing (GO:0035194)
GO Molecular Function (9): DNA binding (GO:0003677), single-stranded DNA binding (GO:0003697), RNA binding (GO:0003723), RNA endonuclease activity (GO:0004521), A2A adenosine receptor binding (GO:0031687), sequence-specific DNA binding (GO:0043565), protein-containing complex binding (GO:0044877), metal ion binding (GO:0046872), protein binding (GO:0005515)
GO Cellular Component (7): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), cytosol (GO:0005829), perinuclear region of cytoplasm (GO:0048471), endoribonuclease complex (GO:1902555)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Gene Silencing by RNA | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| cytoplasm | 3 |
| nucleic acid binding | 2 |
| DNA binding | 2 |
| binding | 2 |
| intracellular membrane-bounded organelle | 2 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| cellular developmental process | 1 |
| regulatory ncRNA processing | 1 |
| post-transcriptional gene silencing | 1 |
| regulatory ncRNA-mediated gene silencing | 1 |
| endonuclease activity | 1 |
| RNA nuclease activity | 1 |
| adenosine receptor binding | 1 |
| cation binding | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| endonuclease complex | 1 |
Protein interactions and networks
STRING
1458 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TSNAX | TSN | Q15631 | 992 |
| TSNAX | DISC1 | Q9NRI5 | 904 |
| TSNAX | TSNAXIP1 | Q2TAA8 | 878 |
| TSNAX | AGO2 | Q9UKV8 | 770 |
| TSNAX | PTGER3 | P43115 | 737 |
| TSNAX | GOLGA3 | Q08378 | 704 |
| TSNAX | DICER1 | Q9UPY3 | 658 |
| TSNAX | PLCB1 | Q9NQ66 | 641 |
| TSNAX | SUN1 | O94901 | 621 |
| TSNAX | C1D | Q13901 | 612 |
| TSNAX | MRFAP1L1 | Q96HT8 | 596 |
| TSNAX | ADORA2A | P29274 | 580 |
| TSNAX | GAP43 | P17677 | 558 |
| TSNAX | SYNE2 | Q8WXH0 | 553 |
| TSNAX | SUN2 | Q9UH99 | 549 |
IntAct
232 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TSN | TSNAX | psi-mi:“MI:0915”(physical association) | 0.920 |
| TSN | TSNAX | psi-mi:“MI:0407”(direct interaction) | 0.920 |
| C1QTNF9 | C1QTNF9B | psi-mi:“MI:0914”(association) | 0.780 |
| BLOC1S5 | TSNAX | psi-mi:“MI:0915”(physical association) | 0.720 |
| TSNAX | BLOC1S5 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TSNAX | KLC3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| KLC3 | TSNAX | psi-mi:“MI:0915”(physical association) | 0.670 |
| LDB2 | TSNAX | psi-mi:“MI:0915”(physical association) | 0.670 |
| GADD45G | TSNAX | psi-mi:“MI:0915”(physical association) | 0.670 |
| PMF1 | TSNAX | psi-mi:“MI:0915”(physical association) | 0.670 |
| KLC3 | TSNAX | psi-mi:“MI:0915”(physical association) | 0.630 |
| TSNAX | psi-mi:“MI:0915”(physical association) | 0.560 | |
| TSNAX | AIMP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TCF12 | TSNAX | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSNAX | LZTS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CARD9 | TSNAX | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (251): TSNAX (Two-hybrid), TSNAX (Two-hybrid), AIMP1 (Two-hybrid), BLOC1S5 (Two-hybrid), CARD9 (Two-hybrid), LZTS2 (Two-hybrid), KLC3 (Two-hybrid), TSNAX (Biochemical Activity), SOGA1 (Affinity Capture-MS), GOLGA3 (Affinity Capture-MS), CEP128 (Affinity Capture-MS), KIF2A (Affinity Capture-MS), RGPD8 (Affinity Capture-MS), RGPD5 (Affinity Capture-MS), PCNT (Affinity Capture-MS)
ESM2 similar proteins: A0A3Q1LSX9, A2APV2, A2VE39, A7YY45, A9UMG5, D2HRF1, F4IDS7, O55091, P10687, P10894, Q28E61, Q2T9V5, Q32L27, Q3MHI7, Q4R599, Q5GFD8, Q5GFD9, Q5M8G6, Q5R558, Q5R981, Q5RC21, Q5U2Z5, Q5ZLV4, Q5ZMG1, Q642J4, Q7YQJ9, Q7Z569, Q8CCJ3, Q8CE96, Q8K2Z8, Q8K394, Q8K4M9, Q8N1G2, Q8VZM1, Q8WVN8, Q91XL9, Q96DT6, Q96FJ0, Q96PY5, Q99598
Diamond homologs: O74955, Q4R599, Q5RC21, Q99598, Q9JHB5, Q9QZE7
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 68 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Cell Cycle Checkpoints | 6 | 12.3× | 2e-03 |
| Cell Cycle | 8 | 6.7× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
30 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 25 |
| Likely benign | 0 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1123 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:231528869:G:T | donor_gain | 1.0000 |
| 1:231536006:G:GT | donor_gain | 1.0000 |
| 1:231542479:A:AG | acceptor_gain | 1.0000 |
| 1:231542479:AGT:A | acceptor_gain | 1.0000 |
| 1:231542480:G:GG | acceptor_gain | 1.0000 |
| 1:231542480:GT:G | acceptor_gain | 1.0000 |
| 1:231542480:GTG:G | acceptor_gain | 1.0000 |
| 1:231542609:CAGG:C | donor_loss | 1.0000 |
| 1:231542611:GGTA:G | donor_loss | 1.0000 |
| 1:231542612:GT:G | donor_loss | 1.0000 |
| 1:231542613:TAA:T | donor_loss | 1.0000 |
| 1:231561123:TTCA:T | acceptor_loss | 1.0000 |
| 1:231561126:A:AG | acceptor_gain | 1.0000 |
| 1:231561127:G:GA | acceptor_gain | 1.0000 |
| 1:231561241:A:T | donor_gain | 1.0000 |
| 1:231561254:CT:C | donor_gain | 1.0000 |
| 1:231561256:G:GG | donor_gain | 1.0000 |
| 1:231528824:A:T | donor_gain | 0.9900 |
| 1:231528848:G:T | donor_gain | 0.9900 |
| 1:231528848:GGCGT:G | donor_gain | 0.9900 |
| 1:231528869:G:GT | donor_gain | 0.9900 |
| 1:231529360:G:GG | donor_gain | 0.9900 |
| 1:231536007:A:T | donor_gain | 0.9900 |
| 1:231537212:GC:G | acceptor_gain | 0.9900 |
| 1:231537212:GCA:G | acceptor_gain | 0.9900 |
| 1:231537323:ACAAG:A | donor_loss | 0.9900 |
| 1:231537325:AAG:A | donor_loss | 0.9900 |
| 1:231537327:GGT:G | donor_loss | 0.9900 |
| 1:231537328:G:A | donor_loss | 0.9900 |
| 1:231537329:TGA:T | donor_loss | 0.9900 |
AlphaMissense
1930 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:231537273:G:C | R61P | 1.000 |
| 1:231537294:A:T | K68I | 1.000 |
| 1:231537295:A:C | K68N | 1.000 |
| 1:231537295:A:T | K68N | 1.000 |
| 1:231561148:G:C | A130P | 1.000 |
| 1:231564600:G:A | G190R | 1.000 |
| 1:231564600:G:C | G190R | 1.000 |
| 1:231564629:G:A | M199I | 1.000 |
| 1:231564629:G:C | M199I | 1.000 |
| 1:231564629:G:T | M199I | 1.000 |
| 1:231537228:T:C | L46P | 0.999 |
| 1:231537258:T:C | L56P | 0.999 |
| 1:231537269:A:C | S60R | 0.999 |
| 1:231537271:T:A | S60R | 0.999 |
| 1:231537271:T:G | S60R | 0.999 |
| 1:231537290:A:C | S67R | 0.999 |
| 1:231537292:T:A | S67R | 0.999 |
| 1:231537292:T:G | S67R | 0.999 |
| 1:231537293:A:G | K68E | 0.999 |
| 1:231537294:A:C | K68T | 0.999 |
| 1:231537305:T:C | F72L | 0.999 |
| 1:231537307:T:A | F72L | 0.999 |
| 1:231537307:T:G | F72L | 0.999 |
| 1:231561135:G:C | Q125H | 0.999 |
| 1:231561135:G:T | Q125H | 0.999 |
| 1:231561147:A:C | E129D | 0.999 |
| 1:231561147:A:T | E129D | 0.999 |
| 1:231564601:G:A | G190E | 0.999 |
| 1:231564601:G:T | G190V | 0.999 |
| 1:231564606:G:C | A192P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000025103 (1:231531179 G>C), RS1000110509 (1:231552485 A>G), RS1000226260 (1:231553860 A>G), RS1000263996 (1:231534395 A>G), RS1000278509 (1:231553698 T>TC), RS1000480502 (1:231559604 A>G), RS1000520511 (1:231535677 A>G), RS1000546486 (1:231529687 G>A), RS1000599770 (1:231535926 A>G), RS1000614912 (1:231528544 G>C), RS1000630559 (1:231542255 C>A,G,T), RS1000653786 (1:231535591 A>G), RS1000872698 (1:231563894 ACT>A), RS1000904030 (1:231558665 A>G), RS1000975997 (1:231535485 A>C)
Disease associations
OMIM: gene MIM:602964 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003744_1 | Chronic periodontitis (mean interproximal clinical attachment level) | 8.000000e-09 |
| GCST009391_507 | Metabolite levels | 2.000000e-06 |
| GCST009391_9 | Metabolite levels | 2.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007780 | periodontal measurement |
| EFO:0010527 | pyridoxate measurement |
| EFO:0007813 | cotinine measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4524025 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 23,148 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL6246 | ELLAGIC ACID | 2 | 23,148 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.46 | IC50 | 3500 | nM | ELLAGIC ACID |
PubChem BioAssay actives
1 with measured affinity, of 21 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 |
|---|---|---|---|---|
| 6,7,13,14-tetrahydroxy-2,9-dioxatetracyclo[6.6.2.04,16.011,15]hexadeca-1(15),4,6,8(16),11,13-hexaene-3,10-dione | 1316798: Inhibition of wild type His-tagged translin/trax E126A mutant (unknown origin) coexpressed in Escherichia coli BL21 cells assessed as reduction in pre-miRNA degradation by gel electrophoresis assay | ic50 | 3.5000 | uM |
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol F | increases expression, affects cotreatment, increases methylation | 2 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| tetrahydropalmatine | decreases expression | 1 |
| sodium arsenite | increases expression, affects cotreatment, increases abundance | 1 |
| butyraldehyde | increases expression | 1 |
| 3,4,5,3’,4’-pentachlorobiphenyl | increases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| ochratoxin A | decreases acetylation, decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| ICG 001 | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| LDN 193189 | increases expression, affects cotreatment | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Aspirin | increases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Copper | affects binding, increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Indomethacin | increases expression, affects cotreatment | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Nickel | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Sulindac | decreases expression | 1 |
| Thiosemicarbazones | affects binding, increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
ChEMBL screening assays
3 unique, capped per target: 3 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL3855682 | Binding | Inhibition of wild type His-tagged translin/trax E126A mutant (unknown origin) coexpressed in Escherichia coli BL21 cells using RNase Alert as substrate at 30 uM incubated for 10 mins prior to substrate addition monitored over 60 mins by fl | A druggable target for rescuing microRNA defects. — Bioorg Med Chem Lett |
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.