TARS3
gene geneOn this page
Also known as FLJ25005ThrRS-L
Summary
TARS3 (threonyl-tRNA synthetase 3, HGNC:24728) is a protein-coding gene on chromosome 15q26.3, encoding Threonine–tRNA ligase 2, cytoplasmic (A2RTX5). Catalyzes the attachment of threonine to tRNA(Thr) in a two-step reaction: threonine is first activated by ATP to form Thr-AMP and then transferred to the acceptor end of tRNA(Thr).
Predicted to enable threonine-tRNA ligase activity. Predicted to be involved in threonyl-tRNA aminoacylation. Predicted to be located in cytoplasm and nucleus. Predicted to be active in mitochondrion.
Source: NCBI Gene 123283 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 140 total
- MANE Select transcript:
NM_152334
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24728 |
| Approved symbol | TARS3 |
| Name | threonyl-tRNA synthetase 3 |
| Location | 15q26.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ25005, ThrRS-L |
| Ensembl gene | ENSG00000185418 |
| Ensembl biotype | protein_coding |
| Entrez | 123283 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 14 protein_coding, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000335968, ENST00000539112, ENST00000557811, ENST00000558533, ENST00000559492, ENST00000560150, ENST00000615656, ENST00000907978, ENST00000907979, ENST00000907980, ENST00000907981, ENST00000907982, ENST00000911609, ENST00000947768, ENST00000947769, ENST00000947770, ENST00000947771, ENST00000947772, ENST00000947773
RefSeq mRNA: 1 — MANE Select: NM_152334
NM_152334
CCDS: CCDS10394
Canonical transcript exons
ENST00000335968 — 19 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001295990 | 101701086 | 101701184 |
| ENSE00001303704 | 101714840 | 101714963 |
| ENSE00001303811 | 101702239 | 101702385 |
| ENSE00001312103 | 101657785 | 101657857 |
| ENSE00001324218 | 101721126 | 101721322 |
| ENSE00001352874 | 101703859 | 101703937 |
| ENSE00001352899 | 101723093 | 101723164 |
| ENSE00001368541 | 101705683 | 101705747 |
| ENSE00001373829 | 101711880 | 101712001 |
| ENSE00001387081 | 101708793 | 101708910 |
| ENSE00001876578 | 101724091 | 101724473 |
| ENSE00001957517 | 101653596 | 101654730 |
| ENSE00003482557 | 101675600 | 101675737 |
| ENSE00003493619 | 101685896 | 101686062 |
| ENSE00003512652 | 101671671 | 101671748 |
| ENSE00003594310 | 101661712 | 101661816 |
| ENSE00003626558 | 101684075 | 101684237 |
| ENSE00003669552 | 101671486 | 101671586 |
| ENSE00003686532 | 101656922 | 101657036 |
Expression profiles
Bgee: expression breadth ubiquitous, 249 present calls, max score 95.83.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.0943 / max 182.0954, expressed in 1789 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 151845 | 17.9534 | 1789 |
| 151844 | 0.1409 | 58 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| corpus callosum | UBERON:0002336 | 95.83 | gold quality |
| vastus lateralis | UBERON:0001379 | 95.13 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 94.86 | gold quality |
| biceps brachii | UBERON:0001507 | 94.84 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 94.73 | gold quality |
| deltoid | UBERON:0001476 | 94.72 | gold quality |
| quadriceps femoris | UBERON:0001377 | 94.43 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 94.26 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 94.04 | gold quality |
| medial globus pallidus | UBERON:0002477 | 93.15 | gold quality |
| sural nerve | UBERON:0015488 | 93.11 | gold quality |
| gastrocnemius | UBERON:0001388 | 92.99 | gold quality |
| muscle of leg | UBERON:0001383 | 92.96 | gold quality |
| globus pallidus | UBERON:0001875 | 92.90 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 92.90 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 92.85 | gold quality |
| muscle tissue | UBERON:0002385 | 92.50 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 92.23 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 92.05 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.78 | gold quality |
| spinal cord | UBERON:0002240 | 91.70 | gold quality |
| tibialis anterior | UBERON:0001385 | 91.12 | gold quality |
| nucleus accumbens | UBERON:0001882 | 90.75 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 90.59 | gold quality |
| substantia nigra | UBERON:0002038 | 90.52 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 90.50 | gold quality |
| putamen | UBERON:0001874 | 90.45 | gold quality |
| caudate nucleus | UBERON:0001873 | 90.44 | gold quality |
| myocardium | UBERON:0002349 | 90.23 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 90.19 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.00 |
| E-ENAD-20 | no | 57.62 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
40 targeting TARS3, 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-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-454-3P | 99.91 | 74.01 | 1925 |
| HSA-MIR-130A-3P | 99.90 | 73.31 | 1861 |
| HSA-MIR-130B-3P | 99.90 | 73.27 | 1850 |
| HSA-MIR-301A-3P | 99.90 | 73.15 | 1839 |
| HSA-MIR-301B-3P | 99.90 | 73.19 | 1836 |
| HSA-MIR-3666 | 99.90 | 73.24 | 1833 |
| HSA-MIR-4295 | 99.90 | 73.11 | 1838 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-7856-5P | 99.75 | 69.99 | 2901 |
| HSA-MIR-548O-3P | 99.74 | 69.30 | 2228 |
| HSA-MIR-494-3P | 99.70 | 71.45 | 2795 |
| HSA-MIR-3158-5P | 99.65 | 67.51 | 1763 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-4672 | 99.50 | 71.58 | 2893 |
| HSA-MIR-580-5P | 99.28 | 70.94 | 1776 |
| HSA-MIR-4667-3P | 99.26 | 65.45 | 1608 |
| HSA-MIR-5690 | 99.25 | 67.58 | 1012 |
| HSA-MIR-664A-3P | 99.22 | 71.08 | 2696 |
| HSA-MIR-1257 | 98.97 | 68.02 | 1133 |
Literature-anchored findings (GeneRIF, showing 3)
- TARSL2 is potentially a new component of aminoacyl-tRNA synthetase core-complex (PMID:24312579)
- Newly acquired N-terminal extension targets threonyl-tRNA synthetase-like protein into the multiple tRNA synthetase complex. (PMID:31287872)
- miR-720 is a key regulator of glioma migration and invasion by controlling TARSL2 expression. (PMID:34024034)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ENSDARG00000075385 | |
| mus_musculus | Tars3 | ENSMUSG00000030515 |
| rattus_norvegicus | Tars3 | ENSRNOG00000024460 |
| drosophila_melanogaster | ThrRS | FBGN0027081 |
| caenorhabditis_elegans | WBGENE00006617 |
Paralogs (4): TARS1 (ENSG00000113407), TARS2 (ENSG00000143374), MRPL39 (ENSG00000154719), PARS2 (ENSG00000162396)
Protein
Protein identifiers
Threonine–tRNA ligase 2, cytoplasmic — A2RTX5 (reviewed: A2RTX5)
Alternative names: Threonyl-tRNA synthetase, Threonyl-tRNA synthetase protein 3
All UniProt accessions (3): A2RTX5, B7ZLP8, H0YKB9
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the attachment of threonine to tRNA(Thr) in a two-step reaction: threonine is first activated by ATP to form Thr-AMP and then transferred to the acceptor end of tRNA(Thr). Also edits incorrectly charged tRNA(Thr) via its editing domain, at the post-transfer stage.
Subunit / interactions. May be a component of the multisynthetase complex (MSC), a large multi-subunit complex which contains at least eight different aminoacyl-tRNA synthetases plus three auxillary subunits AIMP1, AIMP2 and EEF1E1. Interacts with the MSC components EPRS1, AIMP1, AIMP2 and KARS1.
Subcellular location. Cytoplasm. Nucleus.
Similarity. Belongs to the class-II aminoacyl-tRNA synthetase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| A2RTX5-1 | 1 | yes |
| A2RTX5-2 | 2 |
RefSeq proteins (1): NP_689547* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002314 | aa-tRNA-synt_IIb | Domain |
| IPR002320 | Thr-tRNA-ligase_IIa | Family |
| IPR004095 | TGS | Domain |
| IPR004154 | Anticodon-bd | Domain |
| IPR006195 | aa-tRNA-synth_II | Domain |
| IPR012675 | Beta-grasp_dom_sf | Homologous_superfamily |
| IPR012676 | TGS-like | Homologous_superfamily |
| IPR012947 | tRNA_SAD | Domain |
| IPR018163 | Thr/Ala-tRNA-synth_IIc_edit | Homologous_superfamily |
| IPR033728 | ThrRS_core | Domain |
| IPR036621 | Anticodon-bd_dom_sf | Homologous_superfamily |
| IPR045864 | aa-tRNA-synth_II/BPL/LPL | Homologous_superfamily |
| IPR047246 | ThrRS_anticodon | Domain |
Pfam: PF00587, PF02824, PF03129, PF07973
Catalyzed reactions (Rhea), 1 shown:
- tRNA(Thr) + L-threonine + ATP = L-threonyl-tRNA(Thr) + AMP + diphosphate + H(+) (RHEA:24624)
UniProt features (18 total): sequence conflict 6, modified residue 2, coiled-coil region 2, compositionally biased region 2, initiator methionine 1, chain 1, splice variant 1, domain 1, region of interest 1, short sequence motif 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-A2RTX5-F1 | 87.91 | 0.72 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (2): 453, 2
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 79 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, GOBP_AMINO_ACID_ACTIVATION, GOBP_TRNA_METABOLIC_PROCESS, GOBP_TRANSLATION, NIKOLSKY_BREAST_CANCER_15Q26_AMPLICON, KEGG_AMINOACYL_TRNA_BIOSYNTHESIS, BASAKI_YBX1_TARGETS_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, HNF4ALPHA_Q6, chr15q26, GOMF_LIGASE_ACTIVITY_FORMING_CARBON_OXYGEN_BONDS, GOMF_ADENYL_NUCLEOTIDE_BINDING, CHYLA_CBFA2T3_TARGETS_DN, GOMF_CATALYTIC_ACTIVITY_ACTING_ON_RNA
GO Biological Process (4): threonyl-tRNA aminoacylation (GO:0006435), translation (GO:0006412), tRNA aminoacylation for protein translation (GO:0006418), tRNA aminoacylation (GO:0043039)
GO Molecular Function (6): threonine-tRNA ligase activity (GO:0004829), ATP binding (GO:0005524), nucleotide binding (GO:0000166), aminoacyl-tRNA ligase activity (GO:0004812), protein binding (GO:0005515), ligase activity (GO:0016874)
GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| tRNA aminoacylation for protein translation | 1 |
| peptidyltransferase activity | 1 |
| translational initiation | 1 |
| translational elongation | 1 |
| translational termination | 1 |
| macromolecule biosynthetic process | 1 |
| protein metabolic process | 1 |
| protein biosynthetic process | 1 |
| translation | 1 |
| tRNA aminoacylation | 1 |
| tRNA metabolic process | 1 |
| amino acid activation | 1 |
| aminoacyl-tRNA ligase activity | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| ligase activity, forming carbon-oxygen bonds | 1 |
| catalytic activity, acting on a tRNA | 1 |
| binding | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1730 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TARS3 | LARS2 | Q15031 | 978 |
| TARS3 | LARS1 | Q9P2J5 | 972 |
| TARS3 | AARS1 | P49588 | 895 |
| TARS3 | IARS2 | Q9NSE4 | 880 |
| TARS3 | NARS1 | O43776 | 873 |
| TARS3 | NARS2 | Q96I59 | 873 |
| TARS3 | EPRS1 | P07814 | 862 |
| TARS3 | IARS1 | P41252 | 856 |
| TARS3 | VARS1 | P26640 | 845 |
| TARS3 | HARS1 | P12081 | 828 |
| TARS3 | PARS2 | Q7L3T8 | 827 |
| TARS3 | GARS1 | P41250 | 826 |
| TARS3 | AARS2 | Q5JTZ9 | 821 |
| TARS3 | HARS2 | P49590 | 820 |
| TARS3 | SARS1 | P49591 | 820 |
IntAct
80 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TARS1 | TARS3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TARS3 | TARS1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TARS3 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| TARS3 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| TARS3 | TP53BP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TARS3 | ATF4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TARS3 | ECSIT | psi-mi:“MI:0915”(physical association) | 0.560 |
| TARS3 | ARPC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TARS3 | LGALS14 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TARS3 | TARS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ALDH3B1 | UBA6 | psi-mi:“MI:0914”(association) | 0.530 |
| SDCBP | TARS3 | psi-mi:“MI:0914”(association) | 0.530 |
| Spred2 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| Sart3 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| THOC1 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| MYH7 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| SLAIN2 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| CCNB1 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| MYC | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| Tmed10 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| ETAA1 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| NCBP2 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (84): TARSL2 (Two-hybrid), TARSL2 (Affinity Capture-MS), TARSL2 (Affinity Capture-MS), TARSL2 (Affinity Capture-MS), TARSL2 (Affinity Capture-MS), TARSL2 (Affinity Capture-MS), AARS (Co-fractionation), FARSB (Co-fractionation), GARS (Co-fractionation), TARSL2 (Co-fractionation), TARSL2 (Co-fractionation), TARSL2 (Affinity Capture-MS), TARSL2 (Affinity Capture-MS), TARSL2 (Affinity Capture-MS), TARSL2 (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: A0PZN1, A1ARE5, A1U2C3, A1V3R3, A1WU53, A2BQ78, A2C155, A2RTX5, A2S2N6, A3DET1, A3MJT8, A3N8T1, A3NUI4, A3PBX1, A4G619, A4J4Y7, A5EVK6, A5I6L8, A5IJ45, A5N258, A6QNM8, A7FY87, A7GI05, A8F8Q8, A8G3W3, A9A078, A9ABF9, A9BHF0, B0B8F5, B0BA34, B0S169, B1IMV3, B1L0T7, B1L7W6, B2A5P2, B4UAM8, B7XIA1, B8FN26, B8J4E4, B8J823
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 59 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 |
|---|---|---|---|
| Cytosolic tRNA aminoacylation | 7 | 76.9× | 4e-10 |
| tRNA Aminoacylation | 8 | 57.1× | 3e-10 |
| Selenoamino acid metabolism | 6 | 29.5× | 4e-06 |
| Transcriptional and post-translational regulation of MITF-M expression and activity | 6 | 26.8× | 6e-06 |
| MITF-M-regulated melanocyte development | 7 | 20.0× | 4e-06 |
| Translation | 8 | 12.4× | 1e-05 |
| Metabolism of amino acids and derivatives | 7 | 11.8× | 9e-05 |
| Transcriptional Regulation by TP53 | 6 | 9.3× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
140 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 112 |
| Likely benign | 5 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3231 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:101654726:AACCA:A | acceptor_gain | 1.0000 |
| 15:101654727:ACCA:A | acceptor_gain | 1.0000 |
| 15:101654728:CCA:C | acceptor_gain | 1.0000 |
| 15:101654728:CCAC:C | acceptor_gain | 1.0000 |
| 15:101654729:CA:C | acceptor_gain | 1.0000 |
| 15:101654729:CAC:C | acceptor_gain | 1.0000 |
| 15:101654730:ACT:A | acceptor_loss | 1.0000 |
| 15:101654731:C:CC | acceptor_gain | 1.0000 |
| 15:101654731:CT:C | acceptor_loss | 1.0000 |
| 15:101656937:A:AC | donor_gain | 1.0000 |
| 15:101656938:C:CC | donor_gain | 1.0000 |
| 15:101656941:AG:A | donor_gain | 1.0000 |
| 15:101656942:G:C | donor_gain | 1.0000 |
| 15:101657035:ACCTA:A | acceptor_loss | 1.0000 |
| 15:101657036:CCTAG:C | acceptor_loss | 1.0000 |
| 15:101657038:T:A | acceptor_loss | 1.0000 |
| 15:101661706:ACTT:A | donor_loss | 1.0000 |
| 15:101661707:CTTA:C | donor_loss | 1.0000 |
| 15:101661708:TTA:T | donor_loss | 1.0000 |
| 15:101661709:T:TG | donor_loss | 1.0000 |
| 15:101661710:A:AC | donor_gain | 1.0000 |
| 15:101661710:A:C | donor_loss | 1.0000 |
| 15:101661711:C:CC | donor_gain | 1.0000 |
| 15:101661813:CTTA:C | acceptor_gain | 1.0000 |
| 15:101661817:C:CC | acceptor_gain | 1.0000 |
| 15:101671669:A:AC | donor_gain | 1.0000 |
| 15:101671670:C:CC | donor_gain | 1.0000 |
| 15:101671749:C:CC | acceptor_gain | 1.0000 |
| 15:101671750:T:C | acceptor_gain | 1.0000 |
| 15:101671751:T:C | acceptor_gain | 1.0000 |
AlphaMissense
5357 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:101661713:A:G | W691R | 0.998 |
| 15:101661713:A:T | W691R | 0.998 |
| 15:101661742:G:T | A681D | 0.998 |
| 15:101661779:G:C | H669D | 0.998 |
| 15:101671678:C:T | G620D | 0.998 |
| 15:101675617:A:G | W591R | 0.998 |
| 15:101675617:A:T | W591R | 0.998 |
| 15:101684107:C:G | D540H | 0.998 |
| 15:101684163:C:G | R521T | 0.998 |
| 15:101685919:T:A | K488N | 0.998 |
| 15:101685919:T:G | K488N | 0.998 |
| 15:101685999:A:G | W462R | 0.998 |
| 15:101685999:A:T | W462R | 0.998 |
| 15:101701152:A:C | S418R | 0.998 |
| 15:101701152:A:T | S418R | 0.998 |
| 15:101701154:T:G | S418R | 0.998 |
| 15:101702327:C:T | G378E | 0.998 |
| 15:101711984:A:C | S236R | 0.998 |
| 15:101711984:A:T | S236R | 0.998 |
| 15:101711986:T:G | S236R | 0.998 |
| 15:101661763:C:T | G674E | 0.997 |
| 15:101661775:C:G | R670P | 0.997 |
| 15:101671683:A:C | F618L | 0.997 |
| 15:101671683:A:T | F618L | 0.997 |
| 15:101671685:A:G | F618L | 0.997 |
| 15:101671744:A:G | L598P | 0.997 |
| 15:101675615:C:A | W591C | 0.997 |
| 15:101675615:C:G | W591C | 0.997 |
| 15:101684101:C:G | A542P | 0.997 |
| 15:101684114:G:C | F537L | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000009398 (15:101726213 A>C), RS1000023609 (15:101716015 T>C), RS1000034446 (15:101716104 C>T), RS1000072527 (15:101715787 C>A,T), RS1000122567 (15:101715051 T>TG), RS1000152346 (15:101672996 GAGGACACAGGAC>G), RS1000163603 (15:101693751 C>T), RS1000218990 (15:101720947 C>T), RS1000243241 (15:101675804 T>C), RS1000318406 (15:101699267 C>T), RS1000351929 (15:101669843 T>C), RS1000367903 (15:101710388 G>A), RS1000474860 (15:101704841 C>G), RS1000529999 (15:101673990 C>T), RS1000532754 (15:101678978 G>A)
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
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | increases methylation, decreases expression | 2 |
| trichostatin A | affects cotreatment, decreases expression | 2 |
| (+)-JQ1 compound | increases expression | 2 |
| Cadmium Chloride | increases abundance, increases expression, decreases expression | 2 |
| dicrotophos | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Particulate Matter | increases 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.