WDR3
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Also known as FLJ12796UTP12DIP2
Summary
WDR3 (WD repeat domain 3, HGNC:12755) is a protein-coding gene on chromosome 1p12, encoding WD repeat-containing protein 3 (Q9UNX4). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. It is a common-essential gene (DepMap: required in 99.3% of cancer cell lines).
This gene encodes a nuclear protein containing 10 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, which usually include a trp-asp at the C-terminal end. Proteins belonging to the WD repeat family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation.
Source: NCBI Gene 10885 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 142 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- Cancer dependency (DepMap): dependent in 99.3% of screened cell lines (common-essential)
- MANE Select transcript:
NM_006784
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12755 |
| Approved symbol | WDR3 |
| Name | WD repeat domain 3 |
| Location | 1p12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ12796, UTP12, DIP2 |
| Ensembl gene | ENSG00000065183 |
| Ensembl biotype | protein_coding |
| OMIM | 604737 |
| Entrez | 10885 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 9 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000349139, ENST00000369441, ENST00000471680, ENST00000487202, ENST00000880604, ENST00000880605, ENST00000928994, ENST00000947751, ENST00000947752, ENST00000947753, ENST00000947754
RefSeq mRNA: 1 — MANE Select: NM_006784
NM_006784
CCDS: CCDS898
Canonical transcript exons
ENST00000349139 — 27 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000785117 | 117941750 | 117941847 |
| ENSE00000785118 | 117942437 | 117942544 |
| ENSE00000785119 | 117943396 | 117943626 |
| ENSE00000785120 | 117946086 | 117946179 |
| ENSE00000785121 | 117948405 | 117948506 |
| ENSE00000785123 | 117949751 | 117949836 |
| ENSE00000785125 | 117949995 | 117950130 |
| ENSE00000785127 | 117950834 | 117950890 |
| ENSE00000785129 | 117951976 | 117952076 |
| ENSE00000785131 | 117952297 | 117952408 |
| ENSE00000785132 | 117952528 | 117952662 |
| ENSE00000785133 | 117952946 | 117952996 |
| ENSE00000785134 | 117953476 | 117953541 |
| ENSE00000785135 | 117954007 | 117954099 |
| ENSE00000785136 | 117954580 | 117954627 |
| ENSE00000785137 | 117955315 | 117955358 |
| ENSE00000785138 | 117957068 | 117957196 |
| ENSE00000785139 | 117958910 | 117959003 |
| ENSE00001195700 | 117959292 | 117966543 |
| ENSE00001947224 | 117929739 | 117929782 |
| ENSE00003481940 | 117940827 | 117940940 |
| ENSE00003509563 | 117933288 | 117933490 |
| ENSE00003550321 | 117939477 | 117939572 |
| ENSE00003565631 | 117934473 | 117934682 |
| ENSE00003588457 | 117941124 | 117941225 |
| ENSE00003644484 | 117936769 | 117936887 |
| ENSE00003658836 | 117938480 | 117938558 |
Expression profiles
Bgee: expression breadth ubiquitous, 278 present calls, max score 92.44.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.5038 / max 243.7578, expressed in 1750 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 4899 | 14.0860 | 1747 |
| 4902 | 0.1957 | 44 |
| 4900 | 0.1226 | 50 |
| 4901 | 0.0995 | 25 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cervix squamous epithelium | UBERON:0006922 | 92.44 | gold quality |
| squamous epithelium | UBERON:0006914 | 91.05 | gold quality |
| gingival epithelium | UBERON:0001949 | 91.00 | gold quality |
| pancreatic ductal cell | CL:0002079 | 90.78 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 90.55 | gold quality |
| oviduct epithelium | UBERON:0004804 | 90.47 | gold quality |
| buccal mucosa cell | CL:0002336 | 90.33 | gold quality |
| parietal pleura | UBERON:0002400 | 89.77 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 89.02 | gold quality |
| gingiva | UBERON:0001828 | 88.69 | gold quality |
| pleura | UBERON:0000977 | 88.57 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 88.36 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 88.30 | gold quality |
| islet of Langerhans | UBERON:0000006 | 88.24 | gold quality |
| visceral pleura | UBERON:0002401 | 87.45 | gold quality |
| adrenal tissue | UBERON:0018303 | 87.24 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 86.74 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 86.36 | gold quality |
| hair follicle | UBERON:0002073 | 86.29 | gold quality |
| tibia | UBERON:0000979 | 85.89 | gold quality |
| ventricular zone | UBERON:0003053 | 85.82 | gold quality |
| cervix epithelium | UBERON:0004801 | 85.08 | gold quality |
| ganglionic eminence | UBERON:0004023 | 85.05 | gold quality |
| amniotic fluid | UBERON:0000173 | 85.03 | gold quality |
| endothelial cell | CL:0000115 | 84.75 | gold quality |
| fallopian tube | UBERON:0003889 | 84.72 | gold quality |
| cartilage tissue | UBERON:0002418 | 84.54 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 84.53 | gold quality |
| cortical plate | UBERON:0005343 | 84.45 | gold quality |
| nephron tubule | UBERON:0001231 | 84.39 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.81 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
50 targeting WDR3, 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-8485 | 100.00 | 77.57 | 4731 |
| 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-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
| HSA-MIR-34B-5P | 99.78 | 67.56 | 1175 |
| HSA-MIR-449C-5P | 99.78 | 67.63 | 1168 |
| HSA-MIR-5002-5P | 99.76 | 70.84 | 1763 |
| HSA-MIR-2682-5P | 99.73 | 67.38 | 1055 |
| HSA-MIR-466 | 99.67 | 70.85 | 2863 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
| HSA-MIR-5700 | 99.64 | 69.88 | 2280 |
| HSA-MIR-298 | 99.63 | 67.56 | 1916 |
| HSA-MIR-7844-5P | 99.55 | 68.56 | 1428 |
| HSA-MIR-216A-5P | 99.50 | 68.02 | 1288 |
| HSA-MIR-203A-3P | 99.49 | 70.56 | 2806 |
| HSA-MIR-3182 | 99.40 | 68.15 | 2454 |
| HSA-MIR-6507-5P | 99.36 | 70.46 | 2524 |
| HSA-MIR-4727-5P | 99.23 | 67.55 | 1154 |
| HSA-MIR-4263 | 99.18 | 69.25 | 2236 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.3% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 6)
- WDR3 has an essential function in 40 S ribosomal subunit synthesis and in ribosomal stress signaling to p53-mediated regulation of cell cycle progression in cancer cells (PMID:20392698)
- results indicate for the first time that WDR3 is a risk factor to thyroid cancer, suggesting its implication in the etiology of thyroid cancer (PMID:20578902)
- WDR3 can modulate genome stability in thyroid cancer patients. (PMID:23049746)
- evaluated the genetic association of WDR3 and ALG1 in schizophrenia. We examined 21 single nucleotide polymorphisms [SNPs; W1 (rs1812607)-W16 (rs6656360), A1 (rs8053916)-A10 (rs9673733)] from these genes using the Japanese case-control sample (1,808 schizophrenics and 2,170 matched controls). No significant genetic associations of these SNPs were identified. However, we detected a significant association of W4 (rs319471) (PMID:29309433)
- Overexpressed WDR3 induces the activation of Hippo pathway by interacting with GATA4 in pancreatic cancer. (PMID:33648545)
- WDR3 promotes stem cell-like properties in prostate cancer by inhibiting USF2-mediated transcription of RASSF1A. (PMID:36905106)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | wdr3 | ENSDARG00000011079 |
| mus_musculus | Wdr3 | ENSMUSG00000033285 |
| rattus_norvegicus | Wdr3 | ENSRNOG00000019670 |
| drosophila_melanogaster | CG8064 | FBGN0038597 |
Paralogs (1): TBC1D31 (ENSG00000156787)
Protein
Protein identifiers
WD repeat-containing protein 3 — Q9UNX4 (reviewed: Q9UNX4)
All UniProt accessions (3): Q9UNX4, Q5TDG3, Q6PDA5
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.
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.
Tissue specificity. Ubiquitous.
Similarity. Belongs to the WD repeat WDR3/UTP12 family.
RefSeq proteins (1): NP_006775* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR007148 | SSU_processome_Utp12 | Domain |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR019775 | WD40_repeat_CS | Conserved_site |
| IPR020472 | WD40_PAC1 | Repeat |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR051570 | TBC1_cilium_biogenesis | Family |
Pfam: PF04003, PF25172, PF25173
UniProt features (22 total): repeat 13, modified residue 4, cross-link 2, chain 1, region of interest 1, sequence variant 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-Q9UNX4-F1 | 84.93 | 0.55 |
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 (6): 240, 241, 257, 726, 474, 529
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: 141 (showing top):
GSE45365_NK_CELL_VS_BCELL_UP, GOBP_RIBOSOME_BIOGENESIS, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_MATURATION_OF_SSU_RRNA, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, GARY_CD5_TARGETS_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, chr1p12, ZHANG_BREAST_CANCER_PROGENITORS_UP, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, REACTOME_METABOLISM_OF_RNA, GOCC_90S_PRERIBOSOME, GOCC_PRERIBOSOME, GOCC_SMALL_SUBUNIT_PROCESSOME, GOCC_NUCLEOLUS
GO Biological Process (2): maturation of SSU-rRNA (GO:0030490), ribosomal small subunit biogenesis (GO:0042274)
GO Molecular Function (3): RNA binding (GO:0003723), snoRNA binding (GO:0030515), protein binding (GO:0005515)
GO Cellular Component (6): nucleoplasm (GO:0005654), nucleolus (GO:0005730), nuclear membrane (GO:0031965), small-subunit processome (GO:0032040), Pwp2p-containing subcomplex of 90S preribosome (GO:0034388), nucleus (GO:0005634)
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 |
|---|---|
| nuclear lumen | 2 |
| nucleolus | 2 |
| nuclear protein-containing complex | 2 |
| rRNA processing | 1 |
| ribosomal small subunit biogenesis | 1 |
| ribonucleoprotein complex biogenesis | 1 |
| ribosome biogenesis | 1 |
| nucleic acid binding | 1 |
| RNA binding | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| nucleus | 1 |
| nuclear envelope | 1 |
| organelle membrane | 1 |
| preribosome | 1 |
| t-UTP complex | 1 |
| 90S preribosome | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2311 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| WDR3 | UTP18 | Q9Y5J1 | 929 |
| WDR3 | UTP6 | Q9NYH9 | 910 |
| WDR3 | PWP2 | Q15269 | 904 |
| WDR3 | TBL3 | Q12788 | 815 |
| WDR3 | WDR36 | Q8NI36 | 807 |
| WDR3 | UTP4 | Q969X6 | 737 |
| WDR3 | HEATR1 | Q9H583 | 712 |
| WDR3 | BMS1 | Q14692 | 644 |
| WDR3 | GDAP2 | Q9NXN4 | 616 |
| WDR3 | BYSL | Q13895 | 615 |
| WDR3 | UTP3 | Q9NQZ2 | 598 |
| WDR3 | PWP1 | Q13610 | 598 |
| WDR3 | DDB1 | Q16531 | 589 |
| WDR3 | NOP14 | P78316 | 572 |
| WDR3 | CD34 | P28906 | 549 |
IntAct
94 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| USP43 | YWHAB | psi-mi:“MI:0914”(association) | 0.640 |
| C1D | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.640 |
| EXOSC5 | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.640 |
| NOP53 | RRP8 | 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 |
| ZNF512 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| RRP8 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.530 |
| RBM4 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RRP8 | MAGEB2 | psi-mi:“MI:0914”(association) | 0.530 |
| EXOSC4 | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.530 |
| MPHOSPH6 | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.530 |
| ENO4 | WDR3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| WDR3 | RPL4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Brwd3 | WDR91 | 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 | |
| EXOSC5 | PAPD5 | psi-mi:“MI:0914”(association) | 0.350 |
| JUN | TPM3 | 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 |
| DDX60 | G6PD | psi-mi:“MI:0914”(association) | 0.350 |
| TCF7L2 | LOC401309 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (218): WDR3 (Affinity Capture-MS), WDR3 (Affinity Capture-MS), WDR3 (Affinity Capture-MS), GTPBP4 (Co-fractionation), NSUN5 (Co-fractionation), PUS1 (Co-fractionation), PWP2 (Co-fractionation), RRP9 (Co-fractionation), TBL3 (Co-fractionation), TJP1 (Co-fractionation), WDR3 (Co-fractionation), WDR3 (Co-fractionation), WDR36 (Co-fractionation), WDR3 (Affinity Capture-MS), WDR3 (Proximity Label-MS)
ESM2 similar proteins: A1L112, A4IHS2, A8NZM5, B2ZZS9, O00423, O80775, O95834, P93107, P97452, Q05BC3, Q0DYP5, Q13216, Q13610, Q13685, Q15269, Q1JQD2, Q2HJ56, Q32KQ2, Q32P44, Q3SZK1, Q4V8C3, Q562C2, Q58DT8, Q5BIM8, Q5F3K4, Q5R9T6, Q5RCG7, Q5RFQ3, Q5VU92, Q5XI13, Q5ZK69, Q6DRF9, Q6P6T4, Q6PFM9, Q7TNG5, Q7YR70, Q810D6, Q8BH57, Q8BHB4, Q8BU03
Diamond homologs: A1CF18, B2B766, B2VWG7, B8M0Q1, C5FWH1, C5GVJ9, C5JD40, C5PFX0, C7Z6H2, D4AZ50, D4DG66, O43071, O60508, P38123, P40968, P83774, Q8VYZ5, Q9DC48, Q9UNX4, Q9USN3, A2QP30, B0BNA7, P0CS32, P0CS33, P87177, Q12220, Q13347, Q1HPW4, Q54S79, Q5R7R2, Q8BHB4, Q9C1X1, Q9QZD9, P32479, Q0CQ54, Q10282, Q6CB13, Q6ZMW3, Q08924, Q7KWL3
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| WDR3 | “form complex” | “UTP-B complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 126 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 |
|---|---|---|---|
| Nuclear RNA decay | 5 | 18.8× | 7e-04 |
| rRNA modification in the nucleus and cytosol | 6 | 13.7× | 7e-04 |
| rRNA processing in the nucleus and cytosol | 6 | 11.8× | 1e-03 |
| Major pathway of rRNA processing in the nucleolus and cytosol | 15 | 11.3× | 1e-09 |
| rRNA processing | 6 | 10.7× | 2e-03 |
| SARS-CoV-1-host interactions | 5 | 10.7× | 3e-03 |
| Peptide chain elongation | 6 | 9.3× | 2e-03 |
| Viral mRNA Translation | 6 | 9.3× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ribosomal large subunit biogenesis | 6 | 24.4× | 3e-05 |
| ribosomal small subunit biogenesis | 10 | 20.9× | 2e-08 |
| rRNA processing | 13 | 16.9× | 5e-10 |
| regulation of alternative mRNA splicing, via spliceosome | 6 | 13.4× | 6e-04 |
| RNA processing | 6 | 12.1× | 9e-04 |
| cytoplasmic translation | 7 | 11.9× | 3e-04 |
| RNA splicing | 10 | 8.1× | 8e-05 |
| translation | 8 | 7.5× | 9e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
142 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 109 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4018 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:117929420:C:A | donor_gain | 1.0000 |
| 1:117929433:AGTC:A | donor_gain | 1.0000 |
| 1:117929436:C:A | donor_gain | 1.0000 |
| 1:117929439:T:TA | donor_gain | 1.0000 |
| 1:117929446:A:AC | donor_gain | 1.0000 |
| 1:117929447:C:CC | donor_gain | 1.0000 |
| 1:117929447:CAGCA:C | donor_gain | 1.0000 |
| 1:117929452:CT:C | donor_gain | 1.0000 |
| 1:117933282:GCACA:G | acceptor_loss | 1.0000 |
| 1:117933283:CACA:C | acceptor_loss | 1.0000 |
| 1:117933284:ACAGA:A | acceptor_loss | 1.0000 |
| 1:117933285:CA:C | acceptor_loss | 1.0000 |
| 1:117933286:A:AG | acceptor_gain | 1.0000 |
| 1:117933286:A:C | acceptor_loss | 1.0000 |
| 1:117933286:AGATT:A | acceptor_gain | 1.0000 |
| 1:117933287:G:GC | acceptor_loss | 1.0000 |
| 1:117933287:G:GG | acceptor_gain | 1.0000 |
| 1:117933287:GAT:G | acceptor_gain | 1.0000 |
| 1:117933287:GATT:G | acceptor_gain | 1.0000 |
| 1:117933287:GATTG:G | acceptor_gain | 1.0000 |
| 1:117936764:TTTA:T | acceptor_loss | 1.0000 |
| 1:117936765:TTA:T | acceptor_loss | 1.0000 |
| 1:117936884:CTAGG:C | donor_loss | 1.0000 |
| 1:117936885:TAGG:T | donor_loss | 1.0000 |
| 1:117936886:AGGT:A | donor_loss | 1.0000 |
| 1:117936887:GG:G | donor_loss | 1.0000 |
| 1:117936888:G:T | donor_loss | 1.0000 |
| 1:117936889:T:A | donor_loss | 1.0000 |
| 1:117938476:TTA:T | acceptor_loss | 1.0000 |
| 1:117938478:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
6216 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:117943619:T:A | W441R | 1.000 |
| 1:117943619:T:C | W441R | 1.000 |
| 1:117933467:T:A | W50R | 0.999 |
| 1:117933467:T:C | W50R | 0.999 |
| 1:117936787:T:A | W134R | 0.999 |
| 1:117936787:T:C | W134R | 0.999 |
| 1:117949785:T:A | V520D | 0.999 |
| 1:117952024:T:A | W618R | 0.999 |
| 1:117952024:T:C | W618R | 0.999 |
| 1:117952370:T:A | W660R | 0.999 |
| 1:117952370:T:C | W660R | 0.999 |
| 1:117933438:C:A | A40E | 0.998 |
| 1:117938505:T:A | W176R | 0.998 |
| 1:117938505:T:C | W176R | 0.998 |
| 1:117939541:T:C | L215P | 0.998 |
| 1:117943568:A:C | S424R | 0.998 |
| 1:117943570:C:A | S424R | 0.998 |
| 1:117943570:C:G | S424R | 0.998 |
| 1:117943592:T:C | S432P | 0.998 |
| 1:117943620:G:C | W441S | 0.998 |
| 1:117943621:G:C | W441C | 0.998 |
| 1:117943621:G:T | W441C | 0.998 |
| 1:117946106:G:C | R450P | 0.998 |
| 1:117946172:G:A | G472E | 0.998 |
| 1:117949793:T:A | W523R | 0.998 |
| 1:117949793:T:C | W523R | 0.998 |
| 1:117951998:G:A | G609D | 0.998 |
| 1:117952000:T:C | S610P | 0.998 |
| 1:117952006:G:C | D612H | 0.998 |
| 1:117952026:G:C | W618C | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000157818 (1:117933486 A>G), RS1000241479 (1:117960230 C>G), RS1000371551 (1:117932148 C>G), RS1000539723 (1:117965727 G>T), RS1000572569 (1:117953189 CA>C), RS1000724784 (1:117945800 T>C), RS1000857027 (1:117958754 G>A), RS1001270805 (1:117932842 C>G), RS1001321766 (1:117933060 C>T), RS1001330214 (1:117951249 G>T), RS1001337339 (1:117947056 A>G), RS1001339277 (1:117952020 A>G), RS1001427895 (1:117960158 GTATGTA>G), RS1001571737 (1:117966356 T>C), RS1001584452 (1:117932587 CCTGT>C)
Disease associations
OMIM: gene MIM:604737 | 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 |
|---|---|---|
| GCST012442_45 | Age-related hearing impairment | 3.000000e-09 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5725055 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.00 | IC50 | 100 | nM | MOLIBRESIB |
PubChem BioAssay actives
1 with measured affinity, of 6 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 |
|---|---|---|---|---|
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2178554: Inhibition of WDR3 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | ic50 | 0.1000 | uM |
CTD chemical–gene interactions
49 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases abundance, increases expression, decreases expression, affects cotreatment | 3 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 3 |
| Benzo(a)pyrene | decreases expression, affects methylation | 2 |
| Estradiol | increases expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| alpha phellandrene | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| deoxynivalenol | increases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| coumarin | increases phosphorylation | 1 |
| azoxystrobin | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| pyrachlostrobin | decreases expression | 1 |
| picoxystrobin | decreases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Diazinon | increases methylation | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Folic Acid | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ivermectin | decreases expression | 1 |
ChEMBL screening assays
6 unique, capped per target: 6 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5697284 | Binding | Inhibition of WDR3 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): presbycusis