WIZ
gene geneOn this page
Also known as ZNF803
Summary
WIZ (WIZ zinc finger, HGNC:30917) is a protein-coding gene on chromosome 19p13.12, encoding Protein Wiz (O95785). May link EHMT1 and EHMT2 histone methyltransferases to the CTBP corepressor machinery.
Enables several functions, including RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; histone methyltransferase binding activity; and transcription corepressor binding activity. Involved in positive regulation of nuclear cell cycle DNA replication and protein stabilization. Located in midbody and nucleoplasm. Biomarker of atherosclerosis.
Source: NCBI Gene 58525 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 148 total
- Druggable target: yes
- MANE Select transcript:
NM_001371589
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30917 |
| Approved symbol | WIZ |
| Name | WIZ zinc finger |
| Location | 19p13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZNF803 |
| Ensembl gene | ENSG00000011451 |
| Ensembl biotype | protein_coding |
| OMIM | 619715 |
| Entrez | 58525 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 19 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000263381, ENST00000389282, ENST00000545156, ENST00000595214, ENST00000596159, ENST00000599910, ENST00000600632, ENST00000643092, ENST00000648664, ENST00000673675, ENST00000674001, ENST00000674089, ENST00000864799, ENST00000864800, ENST00000864804, ENST00000926415, ENST00000926416, ENST00000926417, ENST00000926418, ENST00000926419, ENST00000926420, ENST00000971324
RefSeq mRNA: 5 — MANE Select: NM_001371589
NM_001330395, NM_001371589, NM_001371603, NM_001411129, NM_021241
CCDS: CCDS42516, CCDS82308, CCDS92545, CCDS92546, CCDS92547
Canonical transcript exons
ENST00000673675 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000688807 | 15436806 | 15437129 |
| ENSE00000688835 | 15426982 | 15427533 |
| ENSE00000688836 | 15425241 | 15425768 |
| ENSE00000688837 | 15424613 | 15425032 |
| ENSE00000688838 | 15424183 | 15424378 |
| ENSE00001483118 | 15448103 | 15448367 |
| ENSE00001505339 | 15429586 | 15430089 |
| ENSE00002249683 | 15419978 | 15423235 |
| ENSE00002263644 | 15428110 | 15428508 |
| ENSE00003814464 | 15438578 | 15440715 |
| ENSE00003820956 | 15442676 | 15442748 |
| ENSE00003897655 | 15449798 | 15449956 |
| ENSE00003897758 | 15431012 | 15431182 |
Expression profiles
Bgee: expression breadth ubiquitous, 259 present calls, max score 92.47.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.4376 / max 303.6705, expressed in 1814 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 179744 | 21.0598 | 1799 |
| 179745 | 4.0056 | 1613 |
| 179746 | 1.2099 | 787 |
| 179747 | 1.1623 | 766 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 92.47 | gold quality |
| ganglionic eminence | UBERON:0004023 | 92.02 | gold quality |
| right testis | UBERON:0004534 | 91.03 | gold quality |
| left testis | UBERON:0004533 | 90.67 | gold quality |
| ventricular zone | UBERON:0003053 | 90.39 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 90.17 | gold quality |
| lower esophagus | UBERON:0013473 | 90.15 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 89.89 | gold quality |
| amygdala | UBERON:0001876 | 89.85 | gold quality |
| apex of heart | UBERON:0002098 | 89.68 | gold quality |
| right coronary artery | UBERON:0001625 | 89.48 | gold quality |
| right frontal lobe | UBERON:0002810 | 89.36 | gold quality |
| body of uterus | UBERON:0009853 | 89.13 | gold quality |
| metanephros cortex | UBERON:0010533 | 88.95 | gold quality |
| thoracic aorta | UBERON:0001515 | 88.90 | gold quality |
| popliteal artery | UBERON:0002250 | 88.85 | gold quality |
| tibial artery | UBERON:0007610 | 88.83 | gold quality |
| aorta | UBERON:0000947 | 88.80 | gold quality |
| ascending aorta | UBERON:0001496 | 88.80 | gold quality |
| left coronary artery | UBERON:0001626 | 88.68 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 88.67 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 88.67 | gold quality |
| left uterine tube | UBERON:0001303 | 88.35 | gold quality |
| ectocervix | UBERON:0012249 | 88.27 | gold quality |
| coronary artery | UBERON:0001621 | 88.24 | gold quality |
| cingulate cortex | UBERON:0003027 | 88.17 | gold quality |
| testis | UBERON:0000473 | 88.16 | gold quality |
| right ovary | UBERON:0002118 | 87.97 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 87.93 | gold quality |
| endocervix | UBERON:0000458 | 87.79 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.41 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
124 targeting WIZ, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-548AZ-5P | 99.83 | 69.94 | 3230 |
| HSA-MIR-548T-5P | 99.83 | 69.91 | 3220 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-518A-5P | 99.70 | 69.01 | 2209 |
| HSA-MIR-527 | 99.70 | 69.01 | 2209 |
Literature-anchored findings (GeneRIF, showing 2)
- Data indicate zinc finger proteins ZNF644 and WIZ as two core subunits in the histone-lysine N-methyltransferase G9a/GLP complex, and interact with the transcription activation domain of G9a and GLP. (PMID:25789554)
- Disrupting the association of G9a-GLP with chromatin by depleting WIZ resulted in altered gene expression and protein-protein interactions that were distinguishable from that of small molecule-based inhibition of G9a/GLP (PMID:26338712)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | wiza | ENSDARG00000096428 |
| danio_rerio | wizb | ENSDARG00000102436 |
| mus_musculus | Wiz | ENSMUSG00000024050 |
| rattus_norvegicus | Wiz | ENSRNOG00000006217 |
Paralogs (51): ZNF416 (ENSG00000083817), MYNN (ENSG00000085274), PRDM4 (ENSG00000110851), PRDM2 (ENSG00000116731), ZBTB17 (ENSG00000116809), ZNF644 (ENSG00000122482), GZF1 (ENSG00000125812), ZNF426 (ENSG00000130818), ZNF287 (ENSG00000141040), ZNF697 (ENSG00000143067), ZNF687 (ENSG00000143373), ZNF214 (ENSG00000149050), ZNF547 (ENSG00000152433), ZNF776 (ENSG00000152443), ZNF230 (ENSG00000159882), ZNF222 (ENSG00000159885), ZNF233 (ENSG00000159915), ZNF333 (ENSG00000160961), ZNF319 (ENSG00000166188), ZNF592 (ENSG00000166716), ZNF646 (ENSG00000167395), ZNF507 (ENSG00000168813), ZNF768 (ENSG00000169957), ZNF417 (ENSG00000173480), ZNF408 (ENSG00000175213), ZBTB41 (ENSG00000177888), ZNF223 (ENSG00000178386), ZNF852 (ENSG00000178917), ZNF784 (ENSG00000179922), ZNF572 (ENSG00000180938), ZNF707 (ENSG00000181135), ZNF746 (ENSG00000181220), ZNF467 (ENSG00000181444), ZNF530 (ENSG00000183647), ZNF17 (ENSG00000186272), ZNF527 (ENSG00000189164), ZKSCAN7 (ENSG00000196345), ZNF34 (ENSG00000196378), ZNF774 (ENSG00000196391), ZNF777 (ENSG00000196453)
Protein
Protein identifiers
Protein Wiz — O95785 (reviewed: O95785)
Alternative names: Widely-interspaced zinc finger-containing protein, Zinc finger protein 803
All UniProt accessions (9): O95785, A0A2R8YFV2, A0A3B3IS05, A0A669KAV7, A0A669KBG4, A0A669KBH9, B9EGQ5, M0QXA7, M0QXF8
UniProt curated annotations — full annotation on UniProt →
Function. May link EHMT1 and EHMT2 histone methyltransferases to the CTBP corepressor machinery. May be involved in EHMT1-EHMT2 heterodimer formation and stabilization.
Subunit / interactions. Interacts with EHMT1, EHMT2, CTBP1 and CTBP2. Part of a complex containing at least CDYL, REST, WIZ, SETB1, EHMT1 and EHMT2.
Subcellular location. Nucleus.
Domain organisation. The C2H2-type zinc finger 11 mediates interaction with EHMT1 and EHMT2.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O95785-1 | 1 | yes |
| O95785-2 | 2 | |
| O95785-3 | 3 | |
| O95785-4 | 4 |
RefSeq proteins (5): NP_001317324, NP_001358518, NP_001358532, NP_001398058, NP_067064 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR051643 | Transcr_Reg_ZincFinger | Family |
| IPR055125 | Wiz_C_Znf | Domain |
Pfam: PF23015
UniProt features (98 total): cross-link 36, modified residue 20, zinc finger region 11, region of interest 11, compositionally biased region 9, splice variant 7, chain 1, sequence conflict 1, turn 1, helix 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9DJT | X-RAY DIFFRACTION | 2.95 |
| 8TZX | X-RAY DIFFRACTION | 3.15 |
| 9DJX | X-RAY DIFFRACTION | 3.35 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95785-F1 | 48.79 | 0.02 |
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 (56): 996, 998, 1006, 1012, 1017, 1025, 1079, 1106, 1122, 1127, 1134, 1146, 1151, 1162, 1162, 1263, 1309, 1314, 1480, 1517 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 146 (showing top):
MODULE_52, GOBP_POSITIVE_REGULATION_OF_DNA_REPLICATION, GOBP_REGULATION_OF_DNA_TEMPLATED_DNA_REPLICATION, GOBP_CELL_CYCLE_DNA_REPLICATION, MODULE_16, GOBP_REGULATION_OF_NUCLEAR_CELL_CYCLE_DNA_REPLICATION, MODULE_118, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_DNA_REPLICATION, MODULE_239, GOBP_PROTEIN_STABILIZATION, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_POSITIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_REGULATION_OF_PROTEIN_STABILITY, MODULE_18, GOBP_REGULATION_OF_CELL_CYCLE_PROCESS
GO Biological Process (3): regulation of transcription by RNA polymerase II (GO:0006357), positive regulation of nuclear cell cycle DNA replication (GO:0010571), protein stabilization (GO:0050821)
GO Molecular Function (8): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), transcription corepressor binding (GO:0001222), zinc ion binding (GO:0008270), protein-containing complex binding (GO:0044877), histone methyltransferase binding (GO:1990226), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), midbody (GO:0030496), extracellular exosome (GO:0070062)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| binding | 2 |
| cellular anatomical structure | 2 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| nuclear DNA replication | 1 |
| regulation of nuclear cell cycle DNA replication | 1 |
| positive regulation of cell cycle process | 1 |
| positive regulation of DNA-templated DNA replication | 1 |
| regulation of protein stability | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription coregulator binding | 1 |
| transition metal ion binding | 1 |
| enzyme binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1186 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| WIZ | EHMT2 | Q96KQ7 | 930 |
| WIZ | CDYL | Q9Y232 | 773 |
| WIZ | EHMT1 | Q9H9B1 | 699 |
| WIZ | ACIN1 | Q9UKV3 | 587 |
| WIZ | ZNF644 | Q9H582 | 574 |
| WIZ | CBX1 | P23197 | 521 |
| WIZ | PRMT5 | O14744 | 456 |
| WIZ | PRR14 | Q9BWN1 | 447 |
| WIZ | WDR77 | Q9BQA1 | 444 |
| WIZ | RUVBL2 | Q9Y230 | 418 |
| WIZ | LCOR | Q96JN0 | 414 |
| WIZ | ZBTB39 | O15060 | 402 |
| WIZ | SETDB1 | Q15047 | 399 |
| WIZ | MIER2 | Q8N344 | 382 |
| WIZ | ANKRD12 | Q6UB98 | 380 |
IntAct
175 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HDAC2 | KDM1A | psi-mi:“MI:0914”(association) | 0.890 |
| CDK8 | MED19 | psi-mi:“MI:2364”(proximity) | 0.850 |
| HDAC1 | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.840 |
| CTBP1 | ZEB2 | psi-mi:“MI:0914”(association) | 0.800 |
| HDAC1 | TNRC18 | psi-mi:“MI:0914”(association) | 0.790 |
| COPRS | PRMT5 | psi-mi:“MI:0914”(association) | 0.770 |
| EHMT2 | WIZ | psi-mi:“MI:0914”(association) | 0.730 |
| CTBP1 | CBX4 | psi-mi:“MI:0914”(association) | 0.700 |
| NFIC | NFIB | psi-mi:“MI:2364”(proximity) | 0.690 |
| YY1 | YY2 | psi-mi:“MI:0914”(association) | 0.570 |
| KSR2 | POLR3A | psi-mi:“MI:0914”(association) | 0.530 |
| CTSG | WIZ | psi-mi:“MI:0914”(association) | 0.530 |
| XAGE2 | WIZ | psi-mi:“MI:0914”(association) | 0.530 |
| CBX1 | ZNF292 | psi-mi:“MI:0914”(association) | 0.530 |
| CBX5 | WIZ | psi-mi:“MI:0914”(association) | 0.530 |
| BAG2 | HGS | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF462 | WIZ | psi-mi:“MI:0914”(association) | 0.530 |
| XAGE3 | WIZ | psi-mi:“MI:0914”(association) | 0.530 |
| MIER2 | WIZ | psi-mi:“MI:0914”(association) | 0.530 |
| TRIM10 | WIZ | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (287): WIZ (Affinity Capture-MS), WIZ (Affinity Capture-MS), WIZ (Affinity Capture-MS), WIZ (Affinity Capture-MS), WIZ (Affinity Capture-MS), WIZ (Affinity Capture-MS), WIZ (Affinity Capture-MS), WIZ (Affinity Capture-MS), WIZ (Affinity Capture-MS), WIZ (Affinity Capture-MS), EHMT1 (Co-fractionation), WIZ (Two-hybrid), WIZ (Proximity Label-MS), CDYL (Affinity Capture-MS), EHMT2 (Affinity Capture-MS)
ESM2 similar proteins: A0JNJ4, A2APT9, A6NEL2, A6NP61, B1ASB6, B1WBS3, B2RXF5, F6WEQ6, O15015, O43918, O88282, O88286, O95785, P98168, P98169, Q2M3G4, Q2MHN3, Q2QGD7, Q3U1J1, Q3U381, Q497V6, Q5SW24, Q5SXM2, Q6YND2, Q6ZMQ8, Q6ZMY3, Q7TN08, Q7TSX9, Q80SU3, Q80YE4, Q811H0, Q8BG26, Q8BZW2, Q8C8V1, Q8IX07, Q8IY92, Q8N143, Q8N1G0, Q8NC74, Q8TBE0
Diamond homologs: O88286, O95785, Q9H582
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 201 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 |
|---|---|---|---|
| RNA Polymerase III Transcription Termination | 5 | 17.1× | 1e-03 |
| Notch-HLH transcription pathway | 5 | 14.1× | 2e-03 |
| Deactivation of the beta-catenin transactivating complex | 8 | 12.9× | 1e-04 |
| Gastrulation | 6 | 10.7× | 2e-03 |
| Transcriptional Regulation by E2F6 | 5 | 10.1× | 5e-03 |
| NOTCH1 Intracellular Domain Regulates Transcription | 6 | 9.8× | 2e-03 |
| RNA Polymerase III Abortive And Retractive Initiation | 5 | 9.6× | 6e-03 |
| Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells) | 9 | 9.1× | 2e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| neuron fate specification | 5 | 18.9× | 8e-04 |
| heterochromatin formation | 12 | 16.5× | 3e-09 |
| negative regulation of gene expression, epigenetic | 6 | 12.9× | 9e-04 |
| epigenetic regulation of gene expression | 5 | 10.3× | 8e-03 |
| positive regulation of miRNA transcription | 6 | 9.4× | 4e-03 |
| chromatin organization | 12 | 6.4× | 7e-05 |
| chromatin remodeling | 16 | 6.3× | 2e-06 |
| transcription by RNA polymerase II | 15 | 5.7× | 1e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
148 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 130 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2080 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:15423233:AACCT:A | acceptor_loss | 1.0000 |
| 19:15423234:ACC:A | acceptor_loss | 1.0000 |
| 19:15423235:CCTGC:C | acceptor_loss | 1.0000 |
| 19:15424177:GCCTA:G | donor_loss | 1.0000 |
| 19:15424178:CCTAC:C | donor_loss | 1.0000 |
| 19:15424179:CTA:C | donor_loss | 1.0000 |
| 19:15424180:TA:T | donor_loss | 1.0000 |
| 19:15424181:A:AT | donor_loss | 1.0000 |
| 19:15424182:C:A | donor_loss | 1.0000 |
| 19:15424374:AAATT:A | acceptor_gain | 1.0000 |
| 19:15424375:AATT:A | acceptor_gain | 1.0000 |
| 19:15424376:ATT:A | acceptor_gain | 1.0000 |
| 19:15424377:TT:T | acceptor_gain | 1.0000 |
| 19:15424378:TCTA:T | acceptor_loss | 1.0000 |
| 19:15424379:C:CC | acceptor_gain | 1.0000 |
| 19:15424379:CTAA:C | acceptor_loss | 1.0000 |
| 19:15424384:G:C | acceptor_gain | 1.0000 |
| 19:15424384:G:GC | acceptor_gain | 1.0000 |
| 19:15424609:TCA:T | donor_loss | 1.0000 |
| 19:15424610:CAC:C | donor_loss | 1.0000 |
| 19:15424611:A:AC | donor_gain | 1.0000 |
| 19:15424612:C:CG | donor_gain | 1.0000 |
| 19:15424612:CT:C | donor_gain | 1.0000 |
| 19:15424612:CTG:C | donor_gain | 1.0000 |
| 19:15425239:A:AC | donor_gain | 1.0000 |
| 19:15425240:C:CC | donor_gain | 1.0000 |
| 19:15426981:CA:C | donor_gain | 1.0000 |
| 19:15427529:TGAGG:T | acceptor_gain | 1.0000 |
| 19:15427530:GAGG:G | acceptor_gain | 1.0000 |
| 19:15427531:AGG:A | acceptor_gain | 1.0000 |
AlphaMissense
12137 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000062281 (19:15432525 CGGCGGCGGCGGGGGTGGG>C), RS1000067924 (19:15436356 G>T), RS1000087652 (19:15446274 T>C), RS1000169098 (19:15429185 C>A,T), RS1000205649 (19:15434919 T>C), RS1000504536 (19:15430452 G>A), RS1000596188 (19:15430750 GA>G), RS1000670034 (19:15441726 C>A), RS1000780165 (19:15436125 A>G), RS1000849247 (19:15434542 G>A), RS1000907276 (19:15420679 G>A,C), RS1000932947 (19:15447953 G>A,T), RS1000941593 (19:15436353 C>T), RS1001137551 (19:15439381 T>C), RS1001196572 (19:15436054 C>A,T)
Disease associations
OMIM: gene MIM:619715 | disease phenotypes: MIM:600057
GenCC curated gene-disease
Mondo (1): bladder exstrophy-epispadias-cloacal exstrophy complex (MONDO:0700039)
Orphanet (1): Classic bladder exstrophy (Orphanet:93930)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90002386_70 | High light scatter reticulocyte percentage of red cells | 1.000000e-10 |
| GCST90002394_444 | Monocyte percentage of white cells | 3.000000e-10 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007989 | monocyte percentage of leukocytes |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (2): CHEMBL4879424 (SINGLE PROTEIN), CHEMBL6195547 (PROTEIN-PROTEIN INTERACTION)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: other protein — Zinc finger TFs
Most potent curated ligand interactions (1 total), top 1:
| Ligand | Action | Affinity | Parameter |
|---|---|---|---|
| BMS-986470 | Binding | 14.0 | pEC50 |
ChEMBL bioactivities
11 potent at pChembl≥5 of 11 total, top 11 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 10.08 | AC50 | 0.083 | nM | CHEMBL4862705 |
| 9.66 | AC50 | 0.22 | nM | CHEMBL4851579 |
| 9.46 | AC50 | 0.35 | nM | CHEMBL4848886 |
| 9.43 | AC50 | 0.37 | nM | CHEMBL4848069 |
| 9.33 | AC50 | 0.47 | nM | CHEMBL4862602 |
| 9.28 | AC50 | 0.52 | nM | CHEMBL4874292 |
| 7.40 | EC50 | 40 | nM | CHEMBL6091922 |
| 7.14 | EC50 | 73 | nM | CHEMBL6142736 |
| 7.11 | EC50 | 78 | nM | CHEMBL6091996 |
| 5.23 | Kd | 5925 | nM | CHEMBL5653589 |
| 5.23 | ED50 | 5925 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 8 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 | 2149783: Binding affinity to human WIZ incubated for 45 mins by Kinobead based pull down assay | kd | 5.9249 | uM |
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| perfluorooctane sulfonic acid | decreases expression, increases expression | 2 |
| Arsenic | affects methylation, decreases ubiquitination | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| trichostatin A | affects expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| pomalidomide | decreases expression, increases degradation | 1 |
| LDN 193189 | increases expression, affects cotreatment | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Vehicle Emissions | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ivermectin | decreases expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
ChEMBL screening assays
15 unique, capped per target: 10 binding, 5 functional
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4828017 | Binding | Induction of HiBit-tagged WIZ protein degradation expressed in HEK293T cells assessed as reduction in WIZ protein level incubated for 18 hrs by luminescence based assay | Novel Substituted Piperidine-2,6-dione Derivatives for Treating Sickle Cell Disease and β-Thalassemia. — ACS Med Chem Lett |
| CHEMBL6076211 | Functional | In vivo molecular glue activity at CRBN/WIZ in immunocompromised naive NBSGW mouse xenografted with human CD34 positive HSPC cells assessed as induction of WIZ degradation in peripheral blood human C19-positive B cells administered orally o | Discovery and Optimization of First-in-Class Molecular Glue Degraders of the WIZ Transcription Factor for Fetal Hemoglobin Induction to Treat Sickle Cell Disease. — J Med Chem |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E2P7 | HAP1 WIZ (-) | Cancer cell line | Male |
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): bladder exstrophy-epispadias-cloacal exstrophy complex