UTP18
gene geneOn this page
Also known as CGI-48
Summary
UTP18 (UTP18 small subunit processome component, HGNC:24274) is a protein-coding gene on chromosome 17q21.33, encoding U3 small nucleolar RNA-associated protein 18 homolog (Q9Y5J1). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. It is a common-essential gene (DepMap: required in 96.9% of cancer cell lines).
Enables RNA binding activity. Involved in ribosomal small subunit biogenesis. Located in nuclear membrane; nucleolus; and nucleoplasm. Part of small-subunit processome.
Source: NCBI Gene 51096 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 82 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 96.9% of screened cell lines (common-essential)
- MANE Select transcript:
NM_016001
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24274 |
| Approved symbol | UTP18 |
| Name | UTP18 small subunit processome component |
| Location | 17q21.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CGI-48 |
| Ensembl gene | ENSG00000011260 |
| Ensembl biotype | protein_coding |
| OMIM | 612816 |
| Entrez | 51096 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 13 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron
ENST00000225298, ENST00000508506, ENST00000579261, ENST00000582150, ENST00000582832, ENST00000583205, ENST00000583725, ENST00000854754, ENST00000854755, ENST00000854756, ENST00000932455, ENST00000932456, ENST00000932457, ENST00000942771, ENST00000942772, ENST00000942773
RefSeq mRNA: 1 — MANE Select: NM_016001
NM_016001
CCDS: CCDS42362
Canonical transcript exons
ENST00000225298 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000737795 | 51263274 | 51263386 |
| ENSE00000737807 | 51266182 | 51266280 |
| ENSE00000737810 | 51275866 | 51275991 |
| ENSE00000737813 | 51277130 | 51277304 |
| ENSE00000737822 | 51288029 | 51288203 |
| ENSE00000820106 | 51260546 | 51260926 |
| ENSE00002240469 | 51268837 | 51268904 |
| ENSE00002259575 | 51273362 | 51273450 |
| ENSE00002686233 | 51297782 | 51297933 |
| ENSE00003460980 | 51280389 | 51280479 |
| ENSE00003489487 | 51296965 | 51297003 |
| ENSE00003554598 | 51293903 | 51294045 |
| ENSE00003597710 | 51280005 | 51280105 |
| ENSE00003616660 | 51285245 | 51285368 |
Expression profiles
Bgee: expression breadth ubiquitous, 297 present calls, max score 96.10.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.1893 / max 237.8671, expressed in 1810 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 161745 | 27.1255 | 1807 |
| 161744 | 1.0638 | 693 |
Top tissues by expression
299 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right testis | UBERON:0004534 | 96.10 | gold quality |
| left testis | UBERON:0004533 | 95.88 | gold quality |
| sperm | CL:0000019 | 95.78 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 95.66 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 95.61 | gold quality |
| male germ cell | CL:0000015 | 95.25 | gold quality |
| testis | UBERON:0000473 | 95.22 | gold quality |
| adult organism | UBERON:0007023 | 95.20 | gold quality |
| calcaneal tendon | UBERON:0003701 | 95.09 | gold quality |
| cartilage tissue | UBERON:0002418 | 94.98 | gold quality |
| gingival epithelium | UBERON:0001949 | 94.54 | gold quality |
| tibia | UBERON:0000979 | 94.45 | gold quality |
| squamous epithelium | UBERON:0006914 | 94.23 | gold quality |
| visceral pleura | UBERON:0002401 | 94.20 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 94.12 | gold quality |
| gingiva | UBERON:0001828 | 94.00 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 94.00 | gold quality |
| pleura | UBERON:0000977 | 93.85 | gold quality |
| parietal pleura | UBERON:0002400 | 93.80 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 93.51 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 93.45 | gold quality |
| placenta | UBERON:0001987 | 93.42 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 93.25 | gold quality |
| oral cavity | UBERON:0000167 | 93.23 | gold quality |
| skin of hip | UBERON:0001554 | 93.21 | gold quality |
| eye | UBERON:0000970 | 93.19 | gold quality |
| monocyte | CL:0000576 | 93.11 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 93.04 | gold quality |
| mononuclear cell | CL:0000842 | 93.03 | gold quality |
| leukocyte | CL:0000738 | 92.91 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.37 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
32 targeting UTP18, 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-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-587 | 99.64 | 70.86 | 2611 |
| HSA-MIR-143-3P | 99.49 | 69.05 | 1457 |
| HSA-MIR-4770 | 99.49 | 69.09 | 1451 |
| HSA-MIR-4762-3P | 99.43 | 69.72 | 2363 |
| HSA-MIR-942-5P | 99.41 | 68.40 | 1977 |
| HSA-MIR-6088 | 99.29 | 68.45 | 1284 |
| HSA-MIR-149-5P | 99.25 | 67.16 | 1315 |
| HSA-MIR-422A | 99.18 | 65.83 | 550 |
| HSA-MIR-6815-3P | 99.13 | 68.98 | 1530 |
| HSA-MIR-1207-3P | 98.99 | 66.22 | 1532 |
| HSA-MIR-4477A | 98.83 | 69.75 | 2952 |
| HSA-MIR-378A-3P | 98.43 | 66.10 | 548 |
| HSA-MIR-378B | 98.43 | 65.36 | 573 |
| HSA-MIR-378C | 98.43 | 66.10 | 548 |
| HSA-MIR-378D | 98.43 | 66.10 | 548 |
| HSA-MIR-378E | 98.43 | 65.99 | 551 |
| HSA-MIR-378F | 98.43 | 65.66 | 554 |
| HSA-MIR-378H | 98.43 | 66.16 | 545 |
| HSA-MIR-378I | 98.43 | 66.10 | 548 |
| HSA-MIR-506-5P | 98.02 | 67.41 | 1065 |
| HSA-MIR-4303 | 98.01 | 68.13 | 2304 |
| HSA-MIR-892B | 98.00 | 67.11 | 821 |
| HSA-MIR-3654 | 96.43 | 66.55 | 646 |
| HSA-MIR-208A-3P | 95.87 | 66.51 | 397 |
| HSA-MIR-208B-3P | 95.87 | 66.56 | 396 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 96.9% of screened cell lines, common-essential.
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Utp18 | ENSMUSG00000054079 |
| rattus_norvegicus | Utp18 | ENSRNOG00000002644 |
Protein
Protein identifiers
U3 small nucleolar RNA-associated protein 18 homolog — Q9Y5J1 (reviewed: Q9Y5J1)
Alternative names: WD repeat-containing protein 50
All UniProt accessions (6): Q9Y5J1, F6VJE8, J3KSR7, J3QLD6, J3QR85, J3QRG0
UniProt curated annotations — full annotation on UniProt →
Function. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome. Involved in nucleolar processing of pre-18S ribosomal RNA.
Subunit / interactions. Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3.
Subcellular location. Nucleus. Nucleolus.
Similarity. Belongs to the WD repeat UTP18 family.
RefSeq proteins (1): NP_057085* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR019775 | WD40_repeat_CS | Conserved_site |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR045161 | Utp18 | Family |
Pfam: PF00400
UniProt features (25 total): modified residue 7, repeat 6, cross-link 4, compositionally biased region 3, region of interest 3, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7MQA | ELECTRON MICROSCOPY | 2.7 |
| 7MQ8 | ELECTRON MICROSCOPY | 3.6 |
| 7MQ9 | ELECTRON MICROSCOPY | 3.87 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y5J1-F1 | 77.92 | 0.45 |
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 (11): 121, 124, 204, 205, 206, 210, 221, 84, 183, 201, 517
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-6790901 | rRNA modification in the nucleus and cytosol |
| R-HSA-6791226 | Major pathway of rRNA processing in the nucleolus and cytosol |
MSigDB gene sets: 225 (showing top):
GSE45365_NK_CELL_VS_BCELL_UP, RNGTGGGC_UNKNOWN, GOBP_RIBOSOME_BIOGENESIS, MORF_MBD4, GOBP_MATURATION_OF_SSU_RRNA, MORF_RAD21, GGGTGGRR_PAX4_03, USF_C, SP1_Q2_01, PUJANA_CHEK2_PCC_NETWORK, WEI_MYCN_TARGETS_WITH_E_BOX, MORF_SKP1A, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, ZIC1_01, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN
GO Biological Process (2): rRNA processing (GO:0006364), ribosomal small subunit biogenesis (GO:0042274)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (7): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), nuclear membrane (GO:0031965), small-subunit processome (GO:0032040), Pwp2p-containing subcomplex of 90S preribosome (GO:0034388), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| rRNA processing in the nucleus and cytosol | 2 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| ribosome biogenesis | 2 |
| nuclear lumen | 2 |
| cellular anatomical structure | 2 |
| nucleolus | 2 |
| nuclear protein-containing complex | 2 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| ribonucleoprotein complex biogenesis | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
| nucleus | 1 |
| nuclear envelope | 1 |
| organelle membrane | 1 |
| preribosome | 1 |
| t-UTP complex | 1 |
| 90S preribosome | 1 |
Protein interactions and networks
STRING
2309 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| UTP18 | TBL3 | Q12788 | 986 |
| UTP18 | WDR36 | Q8NI36 | 972 |
| UTP18 | UTP6 | Q9NYH9 | 968 |
| UTP18 | PWP2 | Q15269 | 963 |
| UTP18 | MTREX | P42285 | 954 |
| UTP18 | WDR3 | Q9UNX4 | 929 |
| UTP18 | UTP4 | Q969X6 | 846 |
| UTP18 | HEATR1 | Q9H583 | 836 |
| UTP18 | UTP3 | Q9NQZ2 | 833 |
| UTP18 | WDR43 | Q15061 | 759 |
| UTP18 | UTP11 | Q9Y3A2 | 742 |
| UTP18 | NOP53 | Q9NZM5 | 729 |
| UTP18 | UTP15 | Q8TED0 | 728 |
| UTP18 | UTP20 | O75691 | 709 |
| UTP18 | NOL6 | Q9H6R4 | 708 |
IntAct
109 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CCT2 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| PTK2 | TGFB1I1 | psi-mi:“MI:0914”(association) | 0.680 |
| CCT5 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.640 |
| KMT2A | MEN1 | psi-mi:“MI:0914”(association) | 0.640 |
| C1D | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.640 |
| RPS14 | CCZ1B | psi-mi:“MI:0914”(association) | 0.640 |
| PWP2 | FBL | psi-mi:“MI:0914”(association) | 0.610 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| UTP18 | PWP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HAVCR2 | TCAF2 | psi-mi:“MI:0914”(association) | 0.530 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.530 |
| WDR43 | WDR75 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| CCT7 | PEX7 | psi-mi:“MI:0914”(association) | 0.530 |
| EXOSC4 | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.530 |
| ADARB1 | SPTY2D1 | psi-mi:“MI:0914”(association) | 0.530 |
| TOMM20 | TPP1 | psi-mi:“MI:0914”(association) | 0.480 |
| UTP18 | CSNK2A1 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| UTP18 | H1-5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HCFC2 | MEN1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| UTP18 | ERBB2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HNRNPU | psi-mi:“MI:0914”(association) | 0.350 | |
| Eif3e | RPSA | psi-mi:“MI:0914”(association) | 0.350 |
| Eif3i | CBX4 | psi-mi:“MI:0914”(association) | 0.350 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| RRP1B | ZNF785 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (166): UTP18 (Affinity Capture-MS), UTP18 (Affinity Capture-MS), UTP18 (Affinity Capture-MS), UTP18 (Affinity Capture-MS), MPHOSPH10 (Co-fractionation), RBM19 (Co-fractionation), UTP18 (Co-fractionation), UTP18 (Affinity Capture-MS), UTP18 (Two-hybrid), UTP18 (Affinity Capture-MS), UTP18 (Affinity Capture-MS), UTP18 (Affinity Capture-MS), UTP18 (Affinity Capture-MS), UTP18 (Affinity Capture-MS), UTP18 (Affinity Capture-MS)
ESM2 similar proteins: A0JMQ0, A4IHS2, A9UZS7, B0WC36, B3MHX6, B3NLK7, B4GIU9, B4HN85, B4J9K1, B4KQU8, B4LKS9, B4MYI5, B4P528, F4IH25, O00423, O13046, O75717, P59328, P97452, Q05BC3, Q0D6V7, Q0VA16, Q14137, Q17LZ2, Q28XF0, Q2TAF3, Q32LB0, Q3TWF6, Q4V8C3, Q562C2, Q5EB92, Q5RAS1, Q5RJT2, Q5SSI6, Q5U2Z5, Q6DIP5, Q6GPP0, Q6GQ76, Q7K0Y1, Q7PTC5
Diamond homologs: Q5SSI6, Q9FMU5, Q9V7P1, Q9Y5J1, P40362, P78750, Q54MH6, Q9P4X3
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| UTP18 | “form complex” | “UTP-B complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 144 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 |
|---|---|---|---|
| rRNA modification in the nucleus and cytosol | 9 | 17.6× | 4e-07 |
| Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding | 5 | 15.7× | 1e-03 |
| rRNA processing in the nucleus and cytosol | 7 | 11.7× | 3e-04 |
| rRNA processing | 7 | 10.7× | 3e-04 |
| Major pathway of rRNA processing in the nucleolus and cytosol | 16 | 10.3× | 1e-09 |
| mRNA Polyadenylation | 7 | 6.4× | 5e-03 |
| Processing of Capped Intron-Containing Pre-mRNA | 7 | 6.0× | 6e-03 |
| Metabolism of RNA | 12 | 5.2× | 3e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of transcription by RNA polymerase I | 6 | 30.9× | 1e-05 |
| positive regulation of telomere maintenance via telomerase | 5 | 29.1× | 1e-04 |
| ribosomal small subunit biogenesis | 12 | 21.7× | 2e-10 |
| ribosomal large subunit biogenesis | 5 | 17.6× | 7e-04 |
| regulation of alternative mRNA splicing, via spliceosome | 7 | 13.6× | 1e-04 |
| RNA processing | 7 | 12.2× | 2e-04 |
| negative regulation of translation | 6 | 9.3× | 3e-03 |
| antiviral innate immune response | 5 | 9.0× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
82 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 65 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2463 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:51260894:G:GT | donor_gain | 1.0000 |
| 17:51260925:GG:G | donor_gain | 1.0000 |
| 17:51260926:GG:G | donor_gain | 1.0000 |
| 17:51260927:G:GG | donor_gain | 1.0000 |
| 17:51260932:G:GT | donor_gain | 1.0000 |
| 17:51260933:G:T | donor_gain | 1.0000 |
| 17:51263268:CTGTA:C | acceptor_loss | 1.0000 |
| 17:51263270:GTAGG:G | acceptor_loss | 1.0000 |
| 17:51263271:TAG:T | acceptor_loss | 1.0000 |
| 17:51263272:A:C | acceptor_loss | 1.0000 |
| 17:51263382:GAAAT:G | donor_gain | 1.0000 |
| 17:51263384:AAT:A | donor_gain | 1.0000 |
| 17:51263385:AT:A | donor_gain | 1.0000 |
| 17:51263386:TGTAA:T | donor_loss | 1.0000 |
| 17:51263387:G:GA | donor_loss | 1.0000 |
| 17:51263387:G:GG | donor_gain | 1.0000 |
| 17:51263388:TAA:T | donor_loss | 1.0000 |
| 17:51266179:TA:T | acceptor_loss | 1.0000 |
| 17:51266180:A:AG | acceptor_gain | 1.0000 |
| 17:51266180:AG:A | acceptor_gain | 1.0000 |
| 17:51266180:AGG:A | acceptor_gain | 1.0000 |
| 17:51266180:AGGGT:A | acceptor_loss | 1.0000 |
| 17:51266181:G:A | acceptor_gain | 1.0000 |
| 17:51266181:G:GG | acceptor_gain | 1.0000 |
| 17:51266181:GGG:G | acceptor_gain | 1.0000 |
| 17:51266181:GGGT:G | acceptor_gain | 1.0000 |
| 17:51266181:GGGTT:G | acceptor_gain | 1.0000 |
| 17:51266276:GAAGA:G | donor_gain | 1.0000 |
| 17:51266277:AAGA:A | donor_gain | 1.0000 |
| 17:51266278:AGA:A | donor_gain | 1.0000 |
AlphaMissense
3662 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:51268868:T:A | W196R | 0.996 |
| 17:51268868:T:C | W196R | 0.996 |
| 17:51268870:G:C | W196C | 0.996 |
| 17:51268870:G:T | W196C | 0.996 |
| 17:51285265:T:A | W409R | 0.996 |
| 17:51285265:T:C | W409R | 0.996 |
| 17:51285362:C:A | A441D | 0.996 |
| 17:51275929:T:C | F259L | 0.995 |
| 17:51275931:C:A | F259L | 0.995 |
| 17:51275931:C:G | F259L | 0.995 |
| 17:51268838:T:C | F186L | 0.994 |
| 17:51268840:C:A | F186L | 0.994 |
| 17:51268840:C:G | F186L | 0.994 |
| 17:51293904:T:A | V502D | 0.994 |
| 17:51263355:T:A | W142R | 0.992 |
| 17:51263355:T:C | W142R | 0.992 |
| 17:51277227:C:A | A312D | 0.992 |
| 17:51285361:G:C | A441P | 0.990 |
| 17:51288166:C:A | A489E | 0.990 |
| 17:51263357:G:C | W142C | 0.989 |
| 17:51263357:G:T | W142C | 0.989 |
| 17:51277232:A:C | S314R | 0.989 |
| 17:51277234:T:A | S314R | 0.989 |
| 17:51277234:T:G | S314R | 0.989 |
| 17:51275930:T:C | F259S | 0.988 |
| 17:51275986:T:C | F278L | 0.988 |
| 17:51275988:T:A | F278L | 0.988 |
| 17:51275988:T:G | F278L | 0.988 |
| 17:51288046:T:A | V449E | 0.988 |
| 17:51285368:G:A | G443D | 0.987 |
dbSNP variants (sampled 300 via entrez): RS1000022706 (17:51279601 G>A,C), RS1000075663 (17:51274385 C>G), RS1000152256 (17:51291013 A>G), RS1000240467 (17:51259316 A>G), RS1000375758 (17:51297414 A>G), RS1000505999 (17:51278322 A>G), RS1000556238 (17:51291999 G>T), RS1000607304 (17:51291751 AAAG>A), RS1000611090 (17:51297913 G>A), RS1000619069 (17:51278113 A>G), RS1000629771 (17:51280579 C>T), RS1000745672 (17:51285017 C>T), RS1000938097 (17:51267454 T>A), RS1000967136 (17:51270150 C>T), RS1001004120 (17:51272635 A>G)
Disease associations
OMIM: gene MIM:612816 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003993_14 | Menarche (age at onset) | 1.000000e-10 |
| GCST008103_55 | Bipolar disorder | 4.000000e-07 |
| GCST009391_505 | Metabolite levels | 2.000000e-07 |
| GCST90020028_1424 | Hip circumference adjusted for BMI | 1.000000e-08 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004703 | age at menarche |
| EFO:0010527 | pyridoxate measurement |
| EFO:0008039 | BMI-adjusted hip circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067108 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.52 | Kd | 30.24 | nM | CHEMBL5653589 |
| 7.52 | ED50 | 30.24 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 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 | 2149748: Binding affinity to human UTP18 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0302 | uM |
CTD chemical–gene interactions
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases abundance, increases expression, affects cotreatment | 2 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Aflatoxin B1 | affects cotreatment, decreases expression, increases methylation | 2 |
| Particulate Matter | increases abundance, increases expression, decreases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| deoxynivalenol | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| nivalenol | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | affects expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Vorinostat | affects cotreatment, decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | increases abundance, increases expression, affects cotreatment | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Benztropine | increases expression | 1 |
| Cannabidiol | increases expression | 1 |
| Clozapine | increases expression | 1 |
| Diazinon | increases methylation | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Estradiol | increases 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 |
|---|---|---|---|
| CHEMBL5652790 | Binding | Binding affinity to human UTP18 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.