MRTO4
gene geneOn this page
Also known as dJ657E11.4MRT4
Summary
MRTO4 (MRT4 homolog, ribosome maturation factor, HGNC:18477) is a protein-coding gene on chromosome 1p36.13, encoding mRNA turnover protein 4 homolog (Q9UKD2). Component of the ribosome assembly machinery. It is a common-essential gene (DepMap: required in 93.0% of cancer cell lines).
This gene encodes a protein sharing a low level of sequence similarity with ribosomal protein P0. While the precise function of the encoded protein is currently unknown, it appears to be involved in mRNA turnover and ribosome assembly.
Source: NCBI Gene 51154 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 50 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 93.0% of screened cell lines (common-essential)
- MANE Select transcript:
NM_016183
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18477 |
| Approved symbol | MRTO4 |
| Name | MRT4 homolog, ribosome maturation factor |
| Location | 1p36.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | dJ657E11.4, MRT4 |
| Ensembl gene | ENSG00000053372 |
| Ensembl biotype | protein_coding |
| OMIM | 620476 |
| Entrez | 51154 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 3 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000330263, ENST00000479559, ENST00000493700, ENST00000857508, ENST00000933910
RefSeq mRNA: 1 — MANE Select: NM_016183
NM_016183
CCDS: CCDS191
Canonical transcript exons
ENST00000330263 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000754852 | 19255948 | 19256051 |
| ENSE00000754853 | 19257064 | 19257145 |
| ENSE00000754855 | 19257454 | 19257521 |
| ENSE00000754856 | 19257833 | 19257984 |
| ENSE00001336766 | 19251805 | 19251863 |
| ENSE00001465998 | 19258681 | 19260128 |
| ENSE00003569483 | 19258477 | 19258553 |
| ENSE00003637786 | 19254782 | 19254840 |
Expression profiles
Bgee: expression breadth ubiquitous, 260 present calls, max score 93.13.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.6237 / max 156.1556, expressed in 1802 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 1058 | 25.6237 | 1802 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 93.13 | gold quality |
| right lobe of liver | UBERON:0001114 | 91.85 | gold quality |
| body of pancreas | UBERON:0001150 | 91.78 | gold quality |
| prefrontal cortex | UBERON:0000451 | 89.99 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 89.84 | gold quality |
| body of stomach | UBERON:0001161 | 89.76 | gold quality |
| cingulate cortex | UBERON:0003027 | 89.69 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 89.64 | gold quality |
| right frontal lobe | UBERON:0002810 | 89.47 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 89.46 | gold quality |
| stromal cell of endometrium | CL:0002255 | 89.31 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.20 | gold quality |
| secondary oocyte | CL:0000655 | 89.14 | gold quality |
| esophagus mucosa | UBERON:0002469 | 89.09 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 88.82 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 88.65 | gold quality |
| cortical plate | UBERON:0005343 | 88.60 | gold quality |
| pancreas | UBERON:0001264 | 88.20 | gold quality |
| left uterine tube | UBERON:0001303 | 88.19 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 88.07 | gold quality |
| ganglionic eminence | UBERON:0004023 | 88.03 | gold quality |
| left adrenal gland | UBERON:0001234 | 87.94 | gold quality |
| skin of leg | UBERON:0001511 | 87.77 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 87.76 | gold quality |
| small intestine | UBERON:0002108 | 87.61 | gold quality |
| gastrocnemius | UBERON:0001388 | 87.59 | gold quality |
| neocortex | UBERON:0001950 | 87.56 | gold quality |
| amygdala | UBERON:0001876 | 87.49 | gold quality |
| esophagus | UBERON:0001043 | 87.42 | gold quality |
| ventricular zone | UBERON:0003053 | 87.40 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.06 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
35 targeting MRTO4, 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-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-3913-5P | 99.78 | 67.26 | 968 |
| HSA-MIR-7154-5P | 99.69 | 70.52 | 1900 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-3122 | 99.50 | 66.33 | 821 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-4284 | 99.36 | 65.25 | 1293 |
| HSA-MIR-4263 | 99.18 | 69.25 | 2236 |
| HSA-MIR-5001-5P | 99.05 | 66.76 | 1972 |
| HSA-MIR-1228-3P | 99.00 | 66.53 | 857 |
| HSA-MIR-6876-3P | 98.97 | 65.69 | 765 |
| HSA-MIR-626 | 98.89 | 66.21 | 762 |
| HSA-MIR-1302 | 97.92 | 67.27 | 844 |
| HSA-MIR-3670 | 97.88 | 64.39 | 763 |
| HSA-MIR-3620-3P | 97.78 | 64.88 | 772 |
| HSA-MIR-4433A-3P | 97.75 | 62.82 | 1435 |
| HSA-MIR-3652 | 97.71 | 65.43 | 1890 |
| HSA-MIR-3144-5P | 97.64 | 65.45 | 646 |
| HSA-MIR-665 | 97.60 | 65.64 | 1781 |
| HSA-MIR-630 | 97.50 | 66.38 | 921 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 93.0% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 3)
- characterization of Mrt4; findings show Mrt4 is a trans-acting factor involved in ribosome maturation, with nucleus-cytoplasm shuttling capacity (PMID:20083226)
- Human Mrt4 undergoes phosphorylation in vivo and serines S229, S233, and S235 are phosphorylated by CK2 kinase in vitro. (PMID:26494001)
- MRTO4 Enhances Glycolysis to Facilitate HCC Progression by Inhibiting ALDOB. (PMID:38778508)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrto4 | ENSDARG00000007130 |
| mus_musculus | Mrto4 | ENSMUSG00000028741 |
| rattus_norvegicus | Mrto4 | ENSRNOG00000017979 |
Protein
Protein identifiers
mRNA turnover protein 4 homolog — Q9UKD2 (reviewed: Q9UKD2)
Alternative names: Ribosome assembly factor MRTO4
All UniProt accessions (1): Q9UKD2
UniProt curated annotations — full annotation on UniProt →
Function. Component of the ribosome assembly machinery. Nuclear paralog of the ribosomal protein P0, it binds pre-60S subunits at an early stage of assembly in the nucleolus, and is replaced by P0 in cytoplasmic pre-60S subunits and mature 80S ribosomes.
Subunit / interactions. Associates with the pre-60S ribosomal particle. Interacts with MINAS-60 (product of an alternative open reading frame of RBM10).
Subcellular location. Nucleus. Nucleolus. Cytoplasm.
Similarity. Belongs to the universal ribosomal protein uL10 family.
RefSeq proteins (1): NP_057267* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001790 | Ribosomal_uL10_N | Domain |
| IPR033867 | Mrt4 | Family |
| IPR040637 | Ribosomal_uL10-like_insert | Domain |
| IPR043141 | Ribosomal_uL10-like_sf | Homologous_superfamily |
| IPR043164 | Ribosomal_uL10-like_insert_sf | Homologous_superfamily |
| IPR051742 | Ribosome_Assembly_uL10 | Family |
Pfam: PF00466, PF17777
UniProt features (8 total): modified residue 3, sequence conflict 2, chain 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
35 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8FKV | ELECTRON MICROSCOPY | 2.47 |
| 8FLE | ELECTRON MICROSCOPY | 2.48 |
| 8FKW | ELECTRON MICROSCOPY | 2.5 |
| 8FL3 | ELECTRON MICROSCOPY | 2.53 |
| 8FL7 | ELECTRON MICROSCOPY | 2.55 |
| 8FLB | ELECTRON MICROSCOPY | 2.55 |
| 8FLD | ELECTRON MICROSCOPY | 2.58 |
| 8FKX | ELECTRON MICROSCOPY | 2.59 |
| 8FL6 | ELECTRON MICROSCOPY | 2.62 |
| 8FLA | ELECTRON MICROSCOPY | 2.63 |
| 8FLF | ELECTRON MICROSCOPY | 2.65 |
| 8FKY | ELECTRON MICROSCOPY | 2.67 |
| 8FL2 | ELECTRON MICROSCOPY | 2.67 |
| 8FL9 | ELECTRON MICROSCOPY | 2.75 |
| 8FLC | ELECTRON MICROSCOPY | 2.76 |
| 8IDT | ELECTRON MICROSCOPY | 2.8 |
| 8FKT | ELECTRON MICROSCOPY | 2.81 |
| 8FKU | ELECTRON MICROSCOPY | 2.82 |
| 8RL2 | ELECTRON MICROSCOPY | 2.84 |
| 8FKS | ELECTRON MICROSCOPY | 2.88 |
| 8FKR | ELECTRON MICROSCOPY | 2.89 |
| 8FL4 | ELECTRON MICROSCOPY | 2.89 |
| 8FL0 | ELECTRON MICROSCOPY | 2.91 |
| 8IDY | ELECTRON MICROSCOPY | 3 |
| 8INF | ELECTRON MICROSCOPY | 3 |
| 8FKZ | ELECTRON MICROSCOPY | 3.04 |
| 9QIW | ELECTRON MICROSCOPY | 3.04 |
| 8INE | ELECTRON MICROSCOPY | 3.2 |
| 8INK | ELECTRON MICROSCOPY | 3.2 |
| 8IPD | ELECTRON MICROSCOPY | 3.2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UKD2-F1 | 89.84 | 0.84 |
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 (3): 225, 229, 233
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 191 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_DN, GOBP_RIBOSOME_BIOGENESIS, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_RIBOSOME_ASSEMBLY, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_RIBOSOMAL_LARGE_SUBUNIT_ASSEMBLY, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, LIAO_METASTASIS, HIF1_Q3, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_UP, FISCHER_DREAM_TARGETS, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, DANG_BOUND_BY_MYC
GO Biological Process (5): ribosomal large subunit assembly (GO:0000027), nuclear-transcribed mRNA catabolic process (GO:0000956), rRNA processing (GO:0006364), ribosomal large subunit biogenesis (GO:0042273), ribosome biogenesis (GO:0042254)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (4): nucleolus (GO:0005730), cytoplasm (GO:0005737), preribosome, large subunit precursor (GO:0030687), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| ribosome biogenesis | 2 |
| ribonucleoprotein complex biogenesis | 2 |
| protein-RNA complex assembly | 1 |
| ribosome assembly | 1 |
| ribosomal large subunit biogenesis | 1 |
| mRNA catabolic process | 1 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| preribosome | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
4754 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRTO4 | NSA2 | O95478 | 928 |
| MRTO4 | ST3GAL3 | Q11203 | 901 |
| MRTO4 | RSL24D1 | Q9UHA3 | 848 |
| MRTO4 | ALX3 | O95076 | 827 |
| MRTO4 | RPF2 | Q9H7B2 | 827 |
| MRTO4 | RBM15 | Q96T37 | 819 |
| MRTO4 | NMD3 | Q96D46 | 811 |
| MRTO4 | GTPBP4 | Q9BZE4 | 802 |
| MRTO4 | GNL2 | Q13823 | 760 |
| MRTO4 | DUSP12 | Q9UNI6 | 731 |
| MRTO4 | LSG1 | Q9H089 | 723 |
| MRTO4 | EIF6 | P56537 | 698 |
| MRTO4 | WDR12 | Q9GZL7 | 663 |
| MRTO4 | RCL1 | Q9Y2P8 | 632 |
| MRTO4 | RPL3 | P39023 | 631 |
IntAct
111 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| MAGEB10 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MACROH2A2 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| ZFP41 | LRP4 | psi-mi:“MI:0914”(association) | 0.530 |
| MRTO4 | H1-2 | psi-mi:“MI:0914”(association) | 0.530 |
| ERBB2 | HAX1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRTO4 | TERF2IP | psi-mi:“MI:0915”(physical association) | 0.510 |
| RAB11A | LANCL1 | psi-mi:“MI:2364”(proximity) | 0.420 |
| MRTO4 | CCDC86 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Mki67 | PPP1CA | psi-mi:“MI:0915”(physical association) | 0.400 |
| Rpl35 | RPS6 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL10 | RPS6 | psi-mi:“MI:0914”(association) | 0.350 |
| Rrbp1 | PIPSL | psi-mi:“MI:0914”(association) | 0.350 |
| NOP56 | C12orf43 | psi-mi:“MI:0914”(association) | 0.350 |
| HNRNPU | psi-mi:“MI:0914”(association) | 0.350 | |
| RRP1B | ZNF785 | psi-mi:“MI:0914”(association) | 0.350 |
| MKI67 | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.350 |
| psi-mi:“MI:0914”(association) | 0.350 | ||
| NUDCD1 | TUBAL3 | psi-mi:“MI:0914”(association) | 0.350 |
| Mecom | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| RAB27A | DKC1 | psi-mi:“MI:0914”(association) | 0.350 |
| TCF7L2 | LOC401309 | psi-mi:“MI:0914”(association) | 0.350 |
| CAND1 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL2 | ANXA2P2 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| ZFP41 | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (227): MRTO4 (Affinity Capture-MS), MRTO4 (Affinity Capture-MS), MRTO4 (Affinity Capture-MS), MRTO4 (Affinity Capture-MS), MRTO4 (Affinity Capture-MS), MRTO4 (Affinity Capture-MS), BRIX1 (Co-fractionation), DDX24 (Co-fractionation), EFTUD2 (Co-fractionation), EIF2S2 (Co-fractionation), FBL (Co-fractionation), FTSJ3 (Co-fractionation), GNL2 (Co-fractionation), GTPBP4 (Co-fractionation), KIAA0020 (Co-fractionation)
ESM2 similar proteins: A4FUD3, A4FV84, F4JGR5, G1TUB8, O08810, O80526, O95045, P11497, P21343, P42932, P50990, P62913, P62914, Q13085, Q15029, Q28559, Q29205, Q2QNG7, Q2QZ86, Q2YDN6, Q3T087, Q3ZCI9, Q4R5J0, Q5F3X4, Q5M939, Q5R6E0, Q5R8Q7, Q5R8T5, Q5RAP1, Q5RC11, Q5RCW2, Q5SWU9, Q5XGS8, Q5XK67, Q5ZID6, Q5ZJ08, Q6EE31, Q6QMZ8, Q80YV4, Q80Z29
Diamond homologs: A4FV84, G0S616, P33201, Q6FJ04, Q75DK9, Q7S302, Q86HD3, Q9D0I8, Q9UKD2, Q9USZ6, P05317, P47826, P50346, P15825
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 148 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| peptidyl-tyrosine phosphorylation | 5 | 16.6× | 2e-03 |
| negative regulation of gene expression, epigenetic | 5 | 15.8× | 2e-03 |
| cell surface receptor protein tyrosine kinase signaling pathway | 10 | 13.7× | 2e-06 |
| substrate adhesion-dependent cell spreading | 5 | 13.5× | 4e-03 |
| positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 14 | 8.6× | 1e-06 |
| positive regulation of MAPK cascade | 13 | 8.2× | 3e-06 |
| protein autophosphorylation | 7 | 8.0× | 4e-03 |
| rRNA processing | 7 | 7.8× | 4e-03 |
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 | 37 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
728 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:19254780:A:AG | acceptor_gain | 1.0000 |
| 1:19254781:G:GA | acceptor_gain | 1.0000 |
| 1:19254781:GTCT:G | acceptor_gain | 1.0000 |
| 1:19254781:GTCTC:G | acceptor_gain | 1.0000 |
| 1:19255945:CAGC:C | acceptor_loss | 1.0000 |
| 1:19255946:A:AG | acceptor_gain | 1.0000 |
| 1:19255946:A:T | acceptor_loss | 1.0000 |
| 1:19255947:G:GT | acceptor_gain | 1.0000 |
| 1:19255947:GC:G | acceptor_gain | 1.0000 |
| 1:19255947:GCT:G | acceptor_gain | 1.0000 |
| 1:19255947:GCTT:G | acceptor_gain | 1.0000 |
| 1:19255947:GCTTC:G | acceptor_gain | 1.0000 |
| 1:19256040:G:GT | donor_gain | 1.0000 |
| 1:19256047:AGCCG:A | donor_gain | 1.0000 |
| 1:19256048:GCCG:G | donor_gain | 1.0000 |
| 1:19256048:GCCGG:G | donor_gain | 1.0000 |
| 1:19256049:CCGGT:C | donor_loss | 1.0000 |
| 1:19256050:CGG:C | donor_loss | 1.0000 |
| 1:19256052:G:GG | donor_gain | 1.0000 |
| 1:19256053:T:G | donor_loss | 1.0000 |
| 1:19257054:T:A | acceptor_gain | 1.0000 |
| 1:19257058:T:TA | acceptor_gain | 1.0000 |
| 1:19257059:G:A | acceptor_gain | 1.0000 |
| 1:19257059:GGTA:G | acceptor_loss | 1.0000 |
| 1:19257060:GTAG:G | acceptor_loss | 1.0000 |
| 1:19257061:TAGG:T | acceptor_loss | 1.0000 |
| 1:19257062:A:AG | acceptor_gain | 1.0000 |
| 1:19257062:AG:A | acceptor_gain | 1.0000 |
| 1:19257062:AGGAT:A | acceptor_gain | 1.0000 |
| 1:19257063:G:A | acceptor_gain | 1.0000 |
AlphaMissense
1586 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:19256006:G:T | R49M | 1.000 |
| 1:19257075:G:A | G68D | 1.000 |
| 1:19257952:G:C | R154T | 1.000 |
| 1:19257952:G:T | R154M | 1.000 |
| 1:19251851:C:A | R6S | 0.999 |
| 1:19251851:C:T | R6C | 0.999 |
| 1:19254822:A:C | K23N | 0.999 |
| 1:19254822:A:T | K23N | 0.999 |
| 1:19254830:T:C | L26P | 0.999 |
| 1:19256006:G:C | R49T | 0.999 |
| 1:19256007:G:C | R49S | 0.999 |
| 1:19256007:G:T | R49S | 0.999 |
| 1:19256018:T:C | L53P | 0.999 |
| 1:19256030:G:C | R57P | 0.999 |
| 1:19257099:C:A | A76D | 0.999 |
| 1:19257104:G:C | G78R | 0.999 |
| 1:19257105:G:A | G78D | 0.999 |
| 1:19257105:G:T | G78V | 0.999 |
| 1:19257482:G:A | G101D | 0.999 |
| 1:19257949:T:A | L153H | 0.999 |
| 1:19257949:T:C | L153P | 0.999 |
| 1:19257953:G:C | R154S | 0.999 |
| 1:19257953:G:T | R154S | 0.999 |
| 1:19257964:T:C | L158P | 0.999 |
| 1:19257976:T:A | L162H | 0.999 |
| 1:19258510:G:A | C176Y | 0.999 |
| 1:19258511:C:G | C176W | 0.999 |
| 1:19258542:G:C | A187P | 0.999 |
| 1:19258552:T:C | L190P | 0.999 |
| 1:19258708:T:C | F200L | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000261098 (1:19252229 T>A), RS1000311749 (1:19253195 T>A), RS1000592160 (1:19252379 C>T), RS1001047817 (1:19252026 AAAAC>A), RS1001198351 (1:19258730 T>C), RS1001304258 (1:19252670 G>A), RS1001596244 (1:19254154 C>T), RS1002379643 (1:19252468 C>A), RS1002602280 (1:19255342 A>G), RS1003162922 (1:19249980 G>C), RS1003223886 (1:19259336 G>A,T), RS1003298317 (1:19260550 A>G), RS1003313578 (1:19255728 G>A), RS1003384688 (1:19253884 A>G), RS1003852650 (1:19259554 G>A)
Disease associations
OMIM: gene MIM:620476 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007001_1 | Cerebrospinal AB1-42 levels in normal cognition | 5.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004670 | beta-amyloid 1-42 measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066484 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 4 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.51 | Kd | 311.1 | nM | CHEMBL5653589 |
| 6.51 | ED50 | 311.1 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 4 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 | 2148783: Binding affinity to human MRTO4 incubated for 45 mins by Kinobead based pull down assay | kd | 0.3111 | uM |
CTD chemical–gene interactions
46 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects methylation, decreases expression, affects cotreatment, increases abundance, increases expression | 5 |
| bisphenol A | decreases expression, decreases methylation | 3 |
| Nickel | increases expression | 2 |
| Plant Extracts | affects cotreatment, increases expression, decreases expression | 2 |
| Smoke | decreases expression | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| afuresertib | decreases expression | 1 |
| alpha phellandrene | decreases expression | 1 |
| deoxynivalenol | increases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| trichostatin A | affects expression | 1 |
| mono-(2-ethylhexyl)phthalate | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| K 7174 | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Dimethyl Sulfoxide | 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 |
|---|---|---|---|
| CHEMBL5651825 | Binding | Binding affinity to human MRTO4 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.