UTP23
gene geneOn this page
Also known as MGC14595
Summary
UTP23 (UTP23 small subunit processome component, HGNC:28224) is a protein-coding gene on chromosome 8q24.11, encoding rRNA-processing protein UTP23 homolog (Q9BRU9). Involved in rRNA-processing and ribosome biogenesis. It is a selective cancer dependency (DepMap: 88.3% of cell lines).
Enables mRNA 3’-UTR binding activity and mRNA 5’-UTR binding activity. Predicted to be involved in rRNA processing. Predicted to act upstream of or within endonucleolytic cleavage in 5’-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Predicted to be located in nucleus. Predicted to be part of small-subunit processome. Predicted to be active in nucleolus. Implicated in colorectal adenocarcinoma.
Source: NCBI Gene 84294 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 30 total
- Cancer dependency (DepMap): dependent in 88.3% of screened cell lines
- MANE Select transcript:
NM_032334
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28224 |
| Approved symbol | UTP23 |
| Name | UTP23 small subunit processome component |
| Location | 8q24.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC14595 |
| Ensembl gene | ENSG00000147679 |
| Ensembl biotype | protein_coding |
| Entrez | 84294 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 5 protein_coding, 3 nonsense_mediated_decay, 2 retained_intron
ENST00000309822, ENST00000517814, ENST00000517820, ENST00000519443, ENST00000520733, ENST00000521071, ENST00000521703, ENST00000521974, ENST00000524128, ENST00000940242
RefSeq mRNA: 1 — MANE Select: NM_032334
NM_032334
CCDS: CCDS6320
Canonical transcript exons
ENST00000309822 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000981304 | 116770192 | 116770366 |
| ENSE00001196281 | 116771456 | 116774684 |
| ENSE00001196285 | 116766524 | 116766791 |
Expression profiles
Bgee: expression breadth ubiquitous, 260 present calls, max score 96.54.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.7004 / max 304.3934, expressed in 1786 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 90322 | 16.7004 | 1786 |
Top tissues by expression
262 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| kidney epithelium | UBERON:0004819 | 96.54 | silver quality |
| pancreatic ductal cell | CL:0002079 | 95.27 | silver quality |
| calcaneal tendon | UBERON:0003701 | 94.94 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 91.76 | silver quality |
| cardia of stomach | UBERON:0001162 | 91.72 | gold quality |
| pericardium | UBERON:0002407 | 91.63 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 91.51 | gold quality |
| corpus callosum | UBERON:0002336 | 90.83 | gold quality |
| nipple | UBERON:0002030 | 90.61 | gold quality |
| vena cava | UBERON:0004087 | 90.44 | silver quality |
| pylorus | UBERON:0001166 | 90.37 | gold quality |
| parietal pleura | UBERON:0002400 | 90.30 | gold quality |
| tibialis anterior | UBERON:0001385 | 90.25 | gold quality |
| myocardium | UBERON:0002349 | 89.65 | gold quality |
| synovial joint | UBERON:0002217 | 89.53 | gold quality |
| secondary oocyte | CL:0000655 | 89.44 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 89.39 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 89.33 | gold quality |
| tendon | UBERON:0000043 | 89.12 | gold quality |
| deltoid | UBERON:0001476 | 88.66 | silver quality |
| mammary duct | UBERON:0001765 | 88.65 | gold quality |
| superior surface of tongue | UBERON:0007371 | 88.61 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 88.60 | gold quality |
| visceral pleura | UBERON:0002401 | 88.49 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 88.46 | gold quality |
| oocyte | CL:0000023 | 88.44 | gold quality |
| buccal mucosa cell | CL:0002336 | 88.14 | silver quality |
| upper arm skin | UBERON:0004263 | 88.13 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 87.75 | silver quality |
| pharyngeal mucosa | UBERON:0000355 | 87.67 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-110499 | no | 1788.69 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
141 targeting UTP23, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| 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-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 88.3% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 5)
- yUtp23/hUTP23 could therefore be central to the coordinated integration and release of ES6 binding factors and likely plays a pivotal role in remodeling this pre-rRNA region in both yeast and humans. Finally, studies using RNAi-rescue systems in human cells revealed that intact PIN domain and Zinc finger motifs in human hUTP23 are essential for 18S rRNA maturation. (PMID:28082392)
- Our findings elucidated a previously unknown function for UTP23 in regulating paclitaxel sensitivity and UTP23 could serve as a potential prognostic predictor for ovarian cancer (PMID:31540773)
- UTP23 Functions in Breast Cancer Progression and Predicts Poor Prognosis of Luminal a Breast Cancer. (PMID:37880005)
- UTP23 Is a Promising Prognostic Biomarker and Is Associated with Immune Infiltration in Breast Cancer. (PMID:38305284)
- Cytoplasmic expression of UTP23 promotes colorectal cancer progression. (PMID:38372088)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | utp23 | ENSDARG00000105012 |
| mus_musculus | Utp23 | ENSMUSG00000022313 |
| rattus_norvegicus | Utp23 | ENSRNOG00000063314 |
| drosophila_melanogaster | CG17652 | FBGN0031361 |
| caenorhabditis_elegans | WBGENE00016411 |
Paralogs (1): FCF1 (ENSG00000119616)
Protein
Protein identifiers
rRNA-processing protein UTP23 homolog — Q9BRU9 (reviewed: Q9BRU9)
All UniProt accessions (7): Q9BRU9, E5RG01, E5RGP0, E5RH13, E5RIC4, E5RIM0, G3XAM4
UniProt curated annotations — full annotation on UniProt →
Function. Involved in rRNA-processing and ribosome biogenesis.
Subcellular location. Nucleus. Nucleolus.
Similarity. Belongs to the UTP23/FCF1 family. UTP23 subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BRU9-1 | 1 | yes |
| Q9BRU9-2 | 2 |
RefSeq proteins (1): NP_115710* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006984 | Fcf1/UTP23 | Family |
| IPR029060 | PIN-like_dom_sf | Homologous_superfamily |
| IPR057776 | UTP23_sensor | Domain |
Pfam: PF04900, PF24779
UniProt features (12 total): sequence variant 3, compositionally biased region 2, splice variant 2, chain 1, region of interest 1, sequence conflict 1, modified residue 1, cross-link 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BRU9-F1 | 82.09 | 0.59 |
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): 174, 179
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 90 (showing top):
GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, GOBP_RIBOSOME_BIOGENESIS, GOBP_MATURATION_OF_SSU_RRNA, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, GOBP_MATURATION_OF_SSU_RRNA_FROM_TRICISTRONIC_RRNA_TRANSCRIPT_SSU_RRNA_5_8S_RRNA_LSU_RRNA, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, SENESE_HDAC1_TARGETS_UP, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GOCC_PRERIBOSOME, GOCC_SMALL_SUBUNIT_PROCESSOME, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, GOCC_NUCLEOLUS, GOCC_RIBONUCLEOPROTEIN_COMPLEX, NIKOLSKY_BREAST_CANCER_8Q23_Q24_AMPLICON, GOMF_MRNA_BINDING
GO Biological Process (3): endonucleolytic cleavage in 5’-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480), rRNA processing (GO:0006364), ribosome biogenesis (GO:0042254)
GO Molecular Function (5): RNA binding (GO:0003723), mRNA 3’-UTR binding (GO:0003730), mRNA 5’-UTR binding (GO:0048027), small ribosomal subunit rRNA binding (GO:0070181), protein binding (GO:0005515)
GO Cellular Component (3): nucleolus (GO:0005730), small-subunit processome (GO:0032040), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| mRNA binding | 2 |
| maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 1 |
| endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 1 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| ribosome biogenesis | 1 |
| ribonucleoprotein complex biogenesis | 1 |
| nucleic acid binding | 1 |
| rRNA binding | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
| nucleolus | 1 |
| preribosome | 1 |
| t-UTP complex | 1 |
| nuclear protein-containing complex | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1666 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| UTP23 | EIF3H | O15372 | 675 |
| UTP23 | DDX52 | Q9Y2R4 | 674 |
| UTP23 | KRI1 | Q8N9T8 | 648 |
| UTP23 | MED30 | Q96HR3 | 614 |
| UTP23 | RCL1 | Q9Y2P8 | 608 |
| UTP23 | EMG1 | Q92979 | 606 |
| UTP23 | UTP3 | Q9NQZ2 | 593 |
| UTP23 | UTP15 | Q8TED0 | 560 |
| UTP23 | BMS1 | Q14692 | 549 |
| UTP23 | WDR46 | O15213 | 535 |
| UTP23 | PDCD11 | Q14690 | 535 |
| UTP23 | KRR1 | Q13601 | 526 |
| UTP23 | ABT1 | Q9ULW3 | 510 |
| UTP23 | RAD21 | O60216 | 504 |
| UTP23 | NOP14 | P78316 | 490 |
IntAct
160 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KRTAP10-8 | UTP23 | psi-mi:“MI:0915”(physical association) | 0.720 |
| H1-1 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| UTP23 | psi-mi:“MI:0915”(physical association) | 0.600 | |
| UTP23 | psi-mi:“MI:0915”(physical association) | 0.600 | |
| UTP23 | PDE9A | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIM27 | UTP23 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TCF4 | UTP23 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIM23 | UTP23 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-5 | UTP23 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-9 | UTP23 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT31 | UTP23 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT40 | UTP23 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NOTCH2NLA | UTP23 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MID2 | UTP23 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PDE9A | UTP23 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UTP23 | TRIM27 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UTP23 | TCF4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UTP23 | TRIM23 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UTP23 | KRTAP10-5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UTP23 | KRTAP10-9 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (220): UTP23 (Two-hybrid), UTP23 (Two-hybrid), UTP23 (Two-hybrid), UTP23 (Two-hybrid), UTP23 (Two-hybrid), UTP23 (Two-hybrid), KRT40 (Two-hybrid), KRTAP10-9 (Two-hybrid), KRTAP10-5 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-3 (Two-hybrid), NOTCH2NL (Two-hybrid), UTP23 (Affinity Capture-RNA), UTP23 (Affinity Capture-MS), UTP23 (Affinity Capture-MS)
ESM2 similar proteins: A4IHS0, A5WUX7, A6ZND9, B1P1W2, B3LIY9, B4KPG8, B5XAM2, D2HD32, E7EXT2, O44568, O94443, P25642, P34511, P82673, Q05863, Q08230, Q08DT6, Q08DU1, Q09691, Q12322, Q14197, Q2KI45, Q3T116, Q3UFY8, Q497V5, Q498P2, Q5RDI0, Q5U2R4, Q60R52, Q7JUX9, Q80VP5, Q8C1Z8, Q8K2Y7, Q8MT06, Q8N5C6, Q8R035, Q8VCE1, Q95Q11, Q9BRU9, Q9BVP2
Diamond homologs: O13610, O74862, Q08DU1, Q12339, Q9BRU9, Q9CX11, Q32PD0, Q5RFQ0, Q9Y324, Q05498, Q55GM5, Q9CTH6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 119 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 |
|---|---|---|---|
| Eukaryotic Translation Initiation | 8 | 29.8× | 3e-09 |
| Cap-dependent Translation Initiation | 8 | 29.8× | 3e-09 |
| SARS-CoV-1 modulates host translation machinery | 8 | 29.8× | 3e-09 |
| Peptide chain elongation | 19 | 29.1× | 3e-21 |
| Viral mRNA Translation | 19 | 29.1× | 3e-21 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 19 | 28.7× | 3e-21 |
| Selenocysteine synthesis | 19 | 27.5× | 4e-21 |
| Eukaryotic Translation Termination | 19 | 27.5× | 4e-21 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 20 | 36.7× | 2e-23 |
| ribosomal small subunit biogenesis | 9 | 20.3× | 1e-07 |
| translation | 18 | 18.3× | 2e-15 |
| rRNA processing | 10 | 14.0× | 4e-07 |
| RNA processing | 6 | 13.0× | 6e-04 |
| regulation of alternative mRNA splicing, via spliceosome | 5 | 12.1× | 4e-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 | 26 |
| Likely benign | 0 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
459 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:116766787:ACAAG:A | donor_loss | 1.0000 |
| 8:116766788:CAAGG:C | donor_loss | 1.0000 |
| 8:116766789:AAGG:A | donor_loss | 1.0000 |
| 8:116766790:AGG:A | donor_loss | 1.0000 |
| 8:116766791:GGT:G | donor_loss | 1.0000 |
| 8:116766792:G:A | donor_loss | 1.0000 |
| 8:116766793:T:G | donor_loss | 1.0000 |
| 8:116770186:TTTCA:T | acceptor_loss | 1.0000 |
| 8:116770187:TTCA:T | acceptor_loss | 1.0000 |
| 8:116770188:TCAG:T | acceptor_loss | 1.0000 |
| 8:116770189:CAGAT:C | acceptor_loss | 1.0000 |
| 8:116770190:A:G | acceptor_loss | 1.0000 |
| 8:116770191:GAT:G | acceptor_gain | 1.0000 |
| 8:116770191:GATGT:G | acceptor_gain | 1.0000 |
| 8:116770295:G:GG | donor_gain | 1.0000 |
| 8:116770326:TTG:T | donor_gain | 1.0000 |
| 8:116770335:G:T | donor_gain | 1.0000 |
| 8:116847688:CACG:C | acceptor_gain | 1.0000 |
| 8:116847689:ACGC:A | acceptor_loss | 1.0000 |
| 8:116847690:CG:C | acceptor_gain | 1.0000 |
| 8:116847690:CGCT:C | acceptor_loss | 1.0000 |
| 8:116847691:GCTG:G | acceptor_loss | 1.0000 |
| 8:116847692:C:CC | acceptor_gain | 1.0000 |
| 8:116847692:CTG:C | acceptor_loss | 1.0000 |
| 8:116847693:T:A | acceptor_loss | 1.0000 |
| 8:116848947:TGAAG:T | donor_gain | 1.0000 |
| 8:116766741:G:GT | donor_gain | 0.9900 |
| 8:116766768:G:GT | donor_gain | 0.9900 |
| 8:116766768:G:T | donor_gain | 0.9900 |
| 8:116766778:C:G | donor_gain | 0.9900 |
AlphaMissense
1630 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:116770359:C:A | A119E | 0.999 |
| 8:116766706:T:C | C35R | 0.998 |
| 8:116766715:G:C | A38P | 0.997 |
| 8:116766716:C:A | A38E | 0.997 |
| 8:116770193:T:C | C64R | 0.997 |
| 8:116766617:G:T | R5M | 0.996 |
| 8:116766712:G:C | A37P | 0.996 |
| 8:116770209:T:C | L69P | 0.996 |
| 8:116766788:C:T | T62I | 0.995 |
| 8:116770274:T:C | C91R | 0.995 |
| 8:116770310:T:C | C103R | 0.995 |
| 8:116770358:G:C | A119P | 0.995 |
| 8:116766617:G:C | R5T | 0.994 |
| 8:116766618:G:C | R5S | 0.994 |
| 8:116766618:G:T | R5S | 0.994 |
| 8:116766703:T:C | F34L | 0.994 |
| 8:116766705:C:A | F34L | 0.994 |
| 8:116766705:C:G | F34L | 0.994 |
| 8:116770251:C:A | A83E | 0.994 |
| 8:116770310:T:A | C103S | 0.994 |
| 8:116770311:G:C | C103S | 0.994 |
| 8:116770362:C:A | T120K | 0.994 |
| 8:116766689:T:C | L29P | 0.993 |
| 8:116766695:A:T | D31V | 0.993 |
| 8:116770193:T:A | C64S | 0.993 |
| 8:116770194:G:C | C64S | 0.993 |
| 8:116770250:G:C | A83P | 0.993 |
| 8:116770312:T:G | C103W | 0.993 |
| 8:116771507:T:C | F139L | 0.993 |
| 8:116771509:T:A | F139L | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000294330 (8:116765679 T>C,G), RS1001256865 (8:116773965 T>A), RS1001791055 (8:116766797 C>G,T), RS1001948125 (8:116768051 A>G), RS1002044343 (8:116774801 A>G,T), RS1003549564 (8:116772045 G>A), RS1003576642 (8:116764860 T>C), RS1003603500 (8:116772388 T>C), RS1003799729 (8:116768032 A>C), RS1004007291 (8:116774449 G>A), RS1004021088 (8:116769400 T>C), RS1004357538 (8:116774756 A>G), RS1004360879 (8:116764705 G>A,C), RS1004418574 (8:116768301 T>C), RS1004747798 (8:116769661 T>C)
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
22 total (human), top 22 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| pentabromodiphenyl ether | decreases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | decreases expression | 1 |
| Dronabinol | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Asbestos, Crocidolite | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | 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.