TRMT13
gene geneOn this page
Also known as FLJ10287FLJ11219hTrmt13
Summary
TRMT13 (tRNA methyltransferase 13, HGNC:25502) is a protein-coding gene on chromosome 1p21.2, encoding tRNA:m(4)X modification enzyme TRM13 homolog (Q9NUP7). tRNA methylase which 2’-O-methylates cytidine(4) in tRNA(Pro) and tRNA(Gly)(GCC), and adenosine(4) in tRNA(His).
Predicted to enable tRNA methyltransferase activity. Predicted to be involved in tRNA methylation.
Source: NCBI Gene 54482 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 64 total
- MANE Select transcript:
NM_019083
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25502 |
| Approved symbol | TRMT13 |
| Name | tRNA methyltransferase 13 |
| Location | 1p21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10287, FLJ11219, hTrmt13 |
| Ensembl gene | ENSG00000122435 |
| Ensembl biotype | protein_coding |
| Entrez | 54482 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 4 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000370139, ENST00000370141, ENST00000370143, ENST00000482437, ENST00000493651, ENST00000962881
RefSeq mRNA: 7 — MANE Select: NM_019083
NM_001393409, NM_001393410, NM_001393411, NM_001393412, NM_001393413, NM_001393414, NM_019083
CCDS: CCDS765
Canonical transcript exons
ENST00000370141 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000831276 | 100136882 | 100136928 |
| ENSE00000831277 | 100137019 | 100137085 |
| ENSE00000831278 | 100139649 | 100139711 |
| ENSE00000831279 | 100140182 | 100140251 |
| ENSE00000831284 | 100147894 | 100148326 |
| ENSE00000957842 | 100140852 | 100141019 |
| ENSE00001238296 | 100144069 | 100144143 |
| ENSE00001238346 | 100140408 | 100140514 |
| ENSE00001451926 | 100148625 | 100150496 |
| ENSE00001842823 | 100133163 | 100133315 |
| ENSE00003609814 | 100143137 | 100143209 |
Expression profiles
Bgee: expression breadth ubiquitous, 272 present calls, max score 91.73.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.8580 / max 315.7795, expressed in 1764 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 4216 | 15.4474 | 1755 |
| 4217 | 1.4106 | 730 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 91.73 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.54 | gold quality |
| corpus callosum | UBERON:0002336 | 89.13 | gold quality |
| body of pancreas | UBERON:0001150 | 88.29 | gold quality |
| right uterine tube | UBERON:0001302 | 87.39 | gold quality |
| right ovary | UBERON:0002118 | 87.33 | gold quality |
| left ovary | UBERON:0002119 | 87.09 | gold quality |
| lymph node | UBERON:0000029 | 86.96 | gold quality |
| rectum | UBERON:0001052 | 86.66 | gold quality |
| adrenal tissue | UBERON:0018303 | 86.55 | gold quality |
| sural nerve | UBERON:0015488 | 86.29 | gold quality |
| ovary | UBERON:0000992 | 86.23 | gold quality |
| body of uterus | UBERON:0009853 | 85.92 | gold quality |
| tibial nerve | UBERON:0001323 | 85.86 | gold quality |
| buccal mucosa cell | CL:0002336 | 85.85 | gold quality |
| oocyte | CL:0000023 | 85.60 | gold quality |
| endocervix | UBERON:0000458 | 85.56 | gold quality |
| vermiform appendix | UBERON:0001154 | 85.50 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 85.39 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.19 | gold quality |
| endometrium | UBERON:0001295 | 85.08 | gold quality |
| caput epididymis | UBERON:0004358 | 84.99 | gold quality |
| vagina | UBERON:0000996 | 84.75 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 84.71 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 84.65 | gold quality |
| gastrocnemius | UBERON:0001388 | 84.64 | gold quality |
| ectocervix | UBERON:0012249 | 84.61 | gold quality |
| muscle of leg | UBERON:0001383 | 84.58 | gold quality |
| tendon | UBERON:0000043 | 84.52 | gold quality |
| minor salivary gland | UBERON:0001830 | 84.43 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.32 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F4
miRNA regulators (miRDB)
117 targeting TRMT13, 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-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-5010-3P | 99.83 | 70.60 | 2357 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-636 | 99.80 | 69.58 | 1500 |
Literature-anchored findings (GeneRIF, showing 1)
- A dual role of human tRNA methyltransferase hTrmt13 in regulating translation and transcription. (PMID:34850409)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | trmt13 | ENSDARG00000102846 |
| mus_musculus | Trmt13 | ENSMUSG00000033439 |
| rattus_norvegicus | Trmt13 | ENSRNOG00000015140 |
| drosophila_melanogaster | CG18048 | FBGN0037435 |
| caenorhabditis_elegans | WBGENE00013026 |
Protein
Protein identifiers
tRNA:m(4)X modification enzyme TRM13 homolog — Q9NUP7 (reviewed: Q9NUP7)
Alternative names: Coiled-coil domain-containing protein 76
All UniProt accessions (3): Q9NUP7, Q5VVK9, Q5VVL2
UniProt curated annotations — full annotation on UniProt →
Function. tRNA methylase which 2’-O-methylates cytidine(4) in tRNA(Pro) and tRNA(Gly)(GCC), and adenosine(4) in tRNA(His).
Similarity. Belongs to the methyltransferase TRM13 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NUP7-1 | 1 | yes |
| Q9NUP7-2 | 2 |
RefSeq proteins (7): NP_001380338, NP_001380339, NP_001380340, NP_001380341, NP_001380342, NP_001380343, NP_061956* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007871 | Methyltransferase_TRM13 | Domain |
| IPR021721 | Znf_CCCH-type_TRM13 | Domain |
| IPR022776 | TRM13/UPF0224_CHHC_Znf_dom | Domain |
| IPR039044 | Trm13 | Family |
Pfam: PF05206, PF05253, PF11722
Catalyzed reactions (Rhea), 3 shown:
- cytidine(4) in tRNA(Pro) + S-adenosyl-L-methionine = 2’-O-methylcytidine(4) in tRNA(Pro) + S-adenosyl-L-homocysteine + H(+) (RHEA:32767)
- cytidine(4) in tRNA(Gly)(GCC) + S-adenosyl-L-methionine = 2’-O-methylcytidine(4) in tRNA(Gly)(GCC) + S-adenosyl-L-homocysteine + H(+) (RHEA:43192)
- adenosine(4) in tRNA(His) + S-adenosyl-L-methionine = 2’-O-methyladenosine(4) in tRNA(His) + S-adenosyl-L-homocysteine + H(+) (RHEA:43196)
UniProt features (14 total): binding site 4, splice variant 2, initiator methionine 1, chain 1, sequence variant 1, sequence conflict 1, zinc finger region 1, region of interest 1, coiled-coil region 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NUP7-F1 | 79.51 | 0.54 |
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): 59; 65; 75; 79
Post-translational modifications (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6782315 | tRNA modification in the nucleus and cytosol |
MSigDB gene sets: 152 (showing top):
E2F_Q4, E2F_Q4_01, E2F4DP1_01, CMYB_01, GOBP_TRNA_METABOLIC_PROCESS, GOBP_RNA_METHYLATION, E2F1DP1_01, E2F_Q3, E2F1DP2_01, GOBP_RNA_MODIFICATION, GOBP_TRNA_METHYLATION, AACTTT_UNKNOWN, E2F1_Q3, E2F_Q6_01, DANG_BOUND_BY_MYC
GO Biological Process (3): tRNA methylation (GO:0030488), tRNA processing (GO:0008033), methylation (GO:0032259)
GO Molecular Function (6): tRNA methyltransferase activity (GO:0008175), zinc ion binding (GO:0008270), obsolete tRNA 2’-O-methyltransferase activity (GO:0106050), methyltransferase activity (GO:0008168), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (0):
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 |
|---|---|
| RNA methylation | 1 |
| tRNA modification | 1 |
| RNA processing | 1 |
| tRNA metabolic process | 1 |
| metabolic process | 1 |
| RNA methyltransferase activity | 1 |
| catalytic activity, acting on a tRNA | 1 |
| transition metal ion binding | 1 |
| transferase activity, transferring one-carbon groups | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
Protein interactions and networks
STRING
1114 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TRMT13 | LRRC39 | Q96DD0 | 601 |
| TRMT13 | SAYSD1 | Q9NPB0 | 566 |
| TRMT13 | TPGS2 | Q68CL5 | 550 |
| TRMT13 | TRMT44 | Q8IYL2 | 543 |
| TRMT13 | C5orf22 | Q49AR2 | 541 |
| TRMT13 | DBT | P11182 | 536 |
| TRMT13 | RTCA | O00442 | 512 |
| TRMT13 | DIMT1 | Q9UNQ2 | 507 |
| TRMT13 | TRMT11 | Q7Z4G4 | 499 |
| TRMT13 | CMTR2 | Q8IYT2 | 486 |
| TRMT13 | TRMT9B | Q9P272 | 482 |
| TRMT13 | TRMT10C | Q7L0Y3 | 472 |
| TRMT13 | PURG | Q9UJV8 | 429 |
| TRMT13 | PIGH | Q14442 | 423 |
| TRMT13 | METTL15 | A6NJ78 | 423 |
IntAct
136 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRMT13 | STAG1 | psi-mi:“MI:0914”(association) | 0.530 |
| TRMT13 | DLG3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TRMT13 | TIAM2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TRMT13 | APBA3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RHPN1 | TRMT13 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TRMT13 | SNX27 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TRMT13 | MAGI3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TRMT13 | GRID2IP | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TRMT13 | MAGI2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TRMT13 | SNTG2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TRMT13 | DLG4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TRMT13 | GOPC | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TRMT13 | GRIP2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TRMT13 | PICK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TRMT13 | PDZD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TRMT13 | TJP1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TRMT13 | WHRN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TRMT13 | IL16 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAGI2 | TRMT13 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TRMT13 | PDZRN3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CARD11 | TRMT13 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TRMT13 | FRMPD4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TRMT13 | HTRA2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TRMT13 | HTRA4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TRMT13 | ARHGAP21 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (14): TRMT13 (Affinity Capture-MS), STAG1 (Affinity Capture-MS), OSER1 (Affinity Capture-MS), TRMT13 (Affinity Capture-RNA), TRMT13 (Proximity Label-MS), TRMT13 (Affinity Capture-MS), OSER1 (Affinity Capture-MS), STAG1 (Affinity Capture-MS), AGO1 (Affinity Capture-MS), TRMT13 (Affinity Capture-MS), TRMT13 (Proximity Label-MS), TRMT13 (Proximity Label-MS), TRMT13 (Proximity Label-MS), TRMT13 (Affinity Capture-RNA)
ESM2 similar proteins: A0A0R4IB93, A0JMU5, A1A4L5, A2PYH4, A2RUV5, B3M1E1, B3P4N5, B4GZ20, B4HJC0, B4KA23, B4LVS8, B4NKI9, B4PVH6, B4QVW6, B6DMK2, D3Z4R1, O75417, O93530, O94830, Q07G10, Q0P5B2, Q15326, Q28ES8, Q29B63, Q4KLT3, Q4R6F3, Q5M8E6, Q5ZIJ9, Q5ZJM3, Q6GQ76, Q6NRS1, Q6NTR1, Q6P1Q9, Q6ZPR6, Q7ZU90, Q80Y20, Q84MA1, Q8BMK1, Q8BYH3, Q8MNT9
Diamond homologs: Q8BYH3, Q9NUP7, A3LXS6, A7TSF4, Q12383, Q6BP10, Q6C4F8, Q9UTH1
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 88 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 |
|---|---|---|---|
| Ras activation upon Ca2+ influx through NMDA receptor | 5 | 52.9× | 1e-06 |
| Unblocking of NMDA receptors, glutamate binding and activation | 5 | 50.4× | 1e-06 |
| Negative regulation of NMDA receptor-mediated neuronal transmission | 5 | 50.4× | 1e-06 |
| Assembly and cell surface presentation of NMDA receptors | 10 | 47.0× | 7e-13 |
| Dopamine Neurotransmitter Release Cycle | 5 | 46.0× | 2e-06 |
| Long-term potentiation | 5 | 44.1× | 2e-06 |
| Neurexins and neuroligins | 11 | 40.1× | 4e-13 |
| Protein-protein interactions at synapses | 7 | 34.4× | 7e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| establishment or maintenance of epithelial cell apical/basal polarity | 11 | 76.1× | 4e-16 |
| protein localization to synapse | 6 | 54.7× | 1e-07 |
| receptor clustering | 7 | 52.0× | 1e-08 |
| regulation of postsynaptic membrane neurotransmitter receptor levels | 7 | 41.3× | 5e-08 |
| protein-containing complex assembly | 9 | 12.2× | 3e-06 |
| cell-cell adhesion | 10 | 12.1× | 8e-07 |
| regulation of small GTPase mediated signal transduction | 5 | 8.6× | 6e-03 |
| chemical synaptic transmission | 7 | 6.4× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
64 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 56 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1865 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:100133347:GAAA:G | donor_gain | 1.0000 |
| 1:100133350:A:AG | donor_gain | 1.0000 |
| 1:100136876:TATTA:T | acceptor_loss | 1.0000 |
| 1:100136878:TTAG:T | acceptor_loss | 1.0000 |
| 1:100136880:AGG:A | acceptor_loss | 1.0000 |
| 1:100136881:G:GA | acceptor_loss | 1.0000 |
| 1:100136924:AAACA:A | donor_gain | 1.0000 |
| 1:100136925:AACA:A | donor_gain | 1.0000 |
| 1:100136926:ACA:A | donor_gain | 1.0000 |
| 1:100136927:CA:C | donor_gain | 1.0000 |
| 1:100136927:CAGT:C | donor_loss | 1.0000 |
| 1:100136928:AGTA:A | donor_loss | 1.0000 |
| 1:100136929:G:GG | donor_gain | 1.0000 |
| 1:100136929:GT:G | donor_loss | 1.0000 |
| 1:100137017:A:AG | acceptor_gain | 1.0000 |
| 1:100137018:G:GG | acceptor_gain | 1.0000 |
| 1:100137018:GCACA:G | acceptor_gain | 1.0000 |
| 1:100137086:G:GG | donor_gain | 1.0000 |
| 1:100139642:T:TA | acceptor_gain | 1.0000 |
| 1:100139646:A:AG | acceptor_gain | 1.0000 |
| 1:100139646:AAG:A | acceptor_gain | 1.0000 |
| 1:100139646:AAGG:A | acceptor_loss | 1.0000 |
| 1:100139647:A:G | acceptor_gain | 1.0000 |
| 1:100139647:AGG:A | acceptor_loss | 1.0000 |
| 1:100139648:G:A | acceptor_gain | 1.0000 |
| 1:100139707:AATTA:A | donor_gain | 1.0000 |
| 1:100139708:ATTA:A | donor_gain | 1.0000 |
| 1:100139708:ATTAG:A | donor_loss | 1.0000 |
| 1:100139709:TTA:T | donor_gain | 1.0000 |
| 1:100139710:TA:T | donor_gain | 1.0000 |
AlphaMissense
3165 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:100136909:T:C | C59R | 0.999 |
| 1:100137059:T:A | C79S | 0.999 |
| 1:100137059:T:C | C79R | 0.999 |
| 1:100137060:G:C | C79S | 0.999 |
| 1:100136909:T:A | C59S | 0.998 |
| 1:100136910:G:C | C59S | 0.998 |
| 1:100137024:T:A | V67E | 0.998 |
| 1:100137047:C:G | H75D | 0.998 |
| 1:100137049:T:A | H75Q | 0.998 |
| 1:100137049:T:G | H75Q | 0.998 |
| 1:100140910:T:A | V187D | 0.998 |
| 1:100140997:A:T | E216V | 0.998 |
| 1:100133256:T:A | C30S | 0.997 |
| 1:100133256:T:C | C30R | 0.997 |
| 1:100133257:G:C | C30S | 0.997 |
| 1:100133289:T:C | C41R | 0.997 |
| 1:100136902:A:C | R56S | 0.997 |
| 1:100136902:A:T | R56S | 0.997 |
| 1:100136927:C:G | H65D | 0.997 |
| 1:100137019:C:A | H65Q | 0.997 |
| 1:100137019:C:G | H65Q | 0.997 |
| 1:100137060:G:T | C79F | 0.997 |
| 1:100140852:G:C | A168P | 0.997 |
| 1:100141019:G:C | K223N | 0.997 |
| 1:100141019:G:T | K223N | 0.997 |
| 1:100144121:G:C | K265N | 0.997 |
| 1:100144121:G:T | K265N | 0.997 |
| 1:100133223:T:A | C19S | 0.996 |
| 1:100133224:G:C | C19S | 0.996 |
| 1:100133257:G:A | C30Y | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000091392 (1:100150171 A>G), RS1000179209 (1:100139129 G>A), RS1000278459 (1:100133107 G>A,C), RS1000491855 (1:100138485 A>T), RS1000523331 (1:100149219 T>C), RS1000600505 (1:100134133 A>C), RS1000805184 (1:100140307 G>A), RS1000965989 (1:100142569 G>A), RS1001234920 (1:100143538 C>G,T), RS1001554546 (1:100135724 T>C), RS1001814691 (1:100150457 A>C), RS1002753849 (1:100136167 A>G), RS1003106960 (1:100133022 G>A), RS1003227083 (1:100150301 T>C), RS1003349806 (1:100137548 T>G)
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: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, decreases methylation, increases expression | 3 |
| GSK-J4 | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| deoxynivalenol | increases expression | 1 |
| testosterone undecanoate | affects cotreatment, decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Irinotecan | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | increases methylation | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Cannabidiol | decreases expression | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Gold | decreases expression | 1 |
| Haloperidol | decreases expression | 1 |
| Dronabinol | increases expression | 1 |
| Theophylline | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Levonorgestrel | affects cotreatment, decreases expression | 1 |
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.