ZEB2

Summary

ZEB2 (zinc finger E-box binding homeobox 2, HGNC:14881) is a protein-coding gene on chromosome 2q22.3, encoding Zinc finger E-box-binding homeobox 2 (O60315). Transcriptional inhibitor that binds to DNA sequence 5’-CACCT-3’ in different promoters. It is a selective cancer dependency (DepMap: 18.7% of cell lines) and haploinsufficient (ClinGen: sufficient evidence).

The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is located in the nucleus and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs. Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. Alternatively spliced transcript variants have been found for this gene.

Source: NCBI Gene 9839 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Mowat-Wilson syndrome (Definitive, ClinGen)
• GWAS associations: 48
• Clinical variants (ClinVar): 1,593 total — 315 pathogenic, 69 likely-pathogenic
• Phenotypes (HPO): 194
• Cancer dependency (DepMap): dependent in 18.7% of screened cell lines
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• Transcription factor: yes — 36 downstream targets (CollecTRI)
• MANE Select transcript: NM_014795

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14881
Approved symbol	ZEB2
Name	zinc finger E-box binding homeobox 2
Location	2q22.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0569, SIP-1, SIP1
Ensembl gene	ENSG00000169554
Ensembl biotype	protein_coding
OMIM	605802
Entrez	9839

Gene structure

Transcript identifiers

Ensembl transcripts: 56 — 37 protein_coding, 7 protein_coding_CDS_not_defined, 7 retained_intron, 5 nonsense_mediated_decay

ENST00000303660, ENST00000392861, ENST00000409211, ENST00000409487, ENST00000419938, ENST00000427902, ENST00000431672, ENST00000434448, ENST00000435831, ENST00000440875, ENST00000444559, ENST00000453352, ENST00000461784, ENST00000462355, ENST00000465070, ENST00000465308, ENST00000470879, ENST00000472146, ENST00000476394, ENST00000479735, ENST00000484313, ENST00000497268, ENST00000539609, ENST00000558170, ENST00000625161, ENST00000627532, ENST00000628473, ENST00000629520, ENST00000629955, ENST00000630572, ENST00000636026, ENST00000636179, ENST00000636413, ENST00000636445, ENST00000636471, ENST00000636732, ENST00000636820, ENST00000637045, ENST00000637267, ENST00000637304, ENST00000637591, ENST00000637873, ENST00000638007, ENST00000638087, ENST00000638128, ENST00000639389, ENST00000647488, ENST00000675069, ENST00000675145, ENST00000689298, ENST00000886176, ENST00000886177, ENST00000886178, ENST00000886179, ENST00000965901, ENST00000965902

RefSeq mRNA: 2 — MANE Select: NM_014795 NM_001171653, NM_014795

CCDS: CCDS2186, CCDS54403

Canonical transcript exons

ENST00000627532 — 10 exons

Exon	Start	End
ENSE00001790354	144519939	144520119
ENSE00003696743	144517278	144517419
ENSE00003697008	144424796	144424867
ENSE00003697273	144429769	144430026
ENSE00004283358	144401199	144401307
ENSE00004283359	144404836	144405024
ENSE00004283360	144398301	144400270
ENSE00004283361	144384081	144390028
ENSE00004283362	144403916	144404130
ENSE00004283363	144396412	144396592

Expression profiles

Bgee: expression breadth ubiquitous, 290 present calls, max score 99.40.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 104.6800 / max 3044.8921, expressed in 1592 samples.

FANTOM5 promoters (44 alternative TSS)

Promoter ID	TPM avg	Samples expressed
31004	60.4929	1422
30993	11.8005	1282
31009	8.9775	913
30989	7.5124	1374
30986	1.9264	469
30992	1.6739	945
30990	1.3638	525
30977	1.2949	197
30997	1.1625	424
30996	0.9240	318

Top tissues by expression

300 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	99.40	gold quality
sural nerve	UBERON:0015488	99.13	gold quality
monocyte	CL:0000576	98.97	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.86	gold quality
mononuclear cell	CL:0000842	98.60	gold quality
calcaneal tendon	UBERON:0003701	98.53	gold quality
adrenal tissue	UBERON:0018303	98.53	gold quality
leukocyte	CL:0000738	98.45	gold quality
spinal cord	UBERON:0002240	98.26	gold quality
corpus callosum	UBERON:0002336	98.26	gold quality
medial globus pallidus	UBERON:0002477	97.87	gold quality
globus pallidus	UBERON:0001875	97.68	gold quality
nerve	UBERON:0001021	97.27	gold quality
tibial nerve	UBERON:0001323	97.27	gold quality
inferior vagus X ganglion	UBERON:0005363	97.25	gold quality
colonic epithelium	UBERON:0000397	97.12	gold quality
granulocyte	CL:0000094	96.80	gold quality
amygdala	UBERON:0001876	96.72	gold quality
lateral globus pallidus	UBERON:0002476	96.64	gold quality
right coronary artery	UBERON:0001625	96.43	gold quality
putamen	UBERON:0001874	96.40	gold quality
ganglionic eminence	UBERON:0004023	96.31	gold quality
right ovary	UBERON:0002118	96.11	gold quality
substantia nigra	UBERON:0002038	96.10	gold quality
popliteal artery	UBERON:0002250	96.03	gold quality
tibial artery	UBERON:0007610	96.02	gold quality
subthalamic nucleus	UBERON:0001906	95.95	gold quality
right lung	UBERON:0002167	95.95	gold quality
omental fat pad	UBERON:0010414	95.94	gold quality
midbrain	UBERON:0001891	95.90	gold quality

Single-cell (SCXA)

Detected in 33 experiment(s), a significant marker in 28.

Experiment	Marker?	Max mean expression
E-ANND-2	yes	2439.33
E-GEOD-93593	yes	1151.96
E-HCAD-15	yes	1150.33
E-HCAD-35	yes	90.87
E-CURD-122	yes	73.22
E-HCAD-1	yes	68.67
E-HCAD-4	yes	64.84
E-MTAB-9467	yes	58.73
E-HCAD-25	yes	56.55
E-MTAB-7008	yes	48.31
E-MTAB-8142	yes	46.72
E-MTAB-10287	yes	45.57
E-HCAD-5	yes	42.87
E-CURD-88	yes	29.05
E-MTAB-9221	yes	28.48

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

36 targets.

Target	Regulation
ALPL	Repression
ANGPT1	Activation
CCND1
CDH1	Repression
CDH11	Activation
CDH17
CDH2	Repression
CLDN4
COL1A2	Unknown
CXADR	Repression
DLST
EHMT2
ESR1	Activation
ESRP2	Repression
FN1	Activation
FOXE3	Activation
GJA1	Repression
GJB2
ITGA5	Activation
MEOX2	Repression
MIR200A
MIR200B
MIR429
MITF	Activation
MMP1	Activation
MMP2	Unknown
MTA3
NOTCH1
OXTR	Repression
POU5F1	Activation

JASPAR motifs

Motif	Name	Family
MA2686.1	ZEB2	HD-ZF

JASPAR matrix evidence (PMIDs): PMID:29516288

Upstream regulators (CollecTRI, top): FOXQ1, OVOL2, PCGF2, TRPS1, VHL

miRNA regulators (miRDB)

409 targeting ZEB2, 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-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-3662	99.99	73.82	5684

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 18.7% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 40)

• Conditional expression of SIP1 in E-cadherin-positive cells abrogates E-cadherin-mediated intercellular adhesion and induces invasion. SIP1 therefore appears to be a promoter of invasion in malignant epithelial tumors. (PMID:11430829)
• nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features (PMID:11592033)
• large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures (PMID:11595972)
• ZFHX1B may be an important gene for normal embryonic neural crest development. Findings indicate that Hirschsprung’s disease can be regarded as a congenital malformation. Mutations were located at exon 8 of ZFHX1B in 3 of 4 cases. (PMID:12149685)
• ZEB1 plays a role in repressing E-cadherin and MUC1 in epithelial cells [ZEB-1] (PMID:12161443)
• SMADIP1 is observed in neural crest derived cells (peripheric nervous system, enteric nervous system, facial neurectoderm and cranial nerve ganglia), central nervous system, genital tubercle, muscles and kidneys in the developing human (PMID:12175509)
• Data show that ZEB-1/deltaEF1 and ZEB-2/SIP1 are regulators of transforming growth factor beta/bone morphogenetic protein signaling, with opposing effects on this pathway. (PMID:12743038)
• while ZEB-1/deltaEF1 binds to p300 and promotes the formation of a p300-Smad transcriptional complex, ZEB-2/SIP1 acts as a repressor by recruiting CtBP (PMID:12743039)
• Review: Mowat-Wilson syndrome is the result of heterozygous deletions or truncating mutations of the ZFHX1B (SIP1) gene on chromosome 2q22 (PMID:12746390)
• ZFHX1B is strongly transcribed at an early stage in the developing peripheral and central nervous systems of both mice and humans, in all neuronal regions of the brains of 25-week human fetuses and adult mice, and in numerous nonneural tissues. (PMID:15006694)
• SIP1 expression may be induced during hepatocellular cell carcinoma progression; SIP1 directly represses E-cad gene transcription and activates cancer invasion via upregulation of the MMP gene family (PMID:15026811)
• Over expression of snail is associated with breast carcinoma aggressiveness (PMID:15742334)
• ZFHX1B deletions, splice site or truncating mutations were detected in all 28 patients classified as typical Mowat-Wilson syndrome. (PMID:16053902)
• SIP1 sumoylation by Pc2 attenuates transcriptional repression of E-cadherin (PMID:16061479)
• Results suggest that SIP1 contributes to the loss of E-cadherin expression and that detection of SIP1 expression is a predictive and prognostic tool in clinical management of oral carcinomas. (PMID:16273209)
• A splice mutation causes mental retardation unusually mild for this gene; resulting protein might lack a so far unrecognized putative N-terminal acylation site, which is probably important for neuronal function and facial structures. (PMID:16532472)
• results therefore implicate SIP1 in the regulation of vimentin observed in the EMT associated with breast tumor cell migration, a pathway that may contribute to the metastatic progression of breast cancer (PMID:16568083)
• VHL promotes E2 box-dependent E-cadherin transcription by HIF-mediated regulation of SIP1 and snail (PMID:17060462)
• Over 100 mutations have been described in patients with clinically typical MWS, who almost always have whole gene deletions or truncating mutations (nonsense or frameshift) of ZFHX1B, suggesting that haploinsufficiency is the basis of MWS pathology. (PMID:17203459)
• This study identifies miR-200b as a post-transcriptional regulator of ZFHX1B and demonstrates the ability of miR-200b to affect the promoter activity of the ZFHX1B target gene E-cadherin. (PMID:17585049)
• A431 cells expressing SIP1 along with exogenous cyclin D1 were highly invasive (PMID:17855508)
• Molecular genetic analysis of ZFHX1B is important for a definite diagnosis of Mowat-Wilson syndrome, which has a wide phenotypic spectrum of congenital anomalies. (PMID:17932455)
• over 100 deletions/mutations in zinc finger E-box binding protein 2 gene are seen in Mowat-Wilson Syndrome; Clinical features suggest ZEB2 gene activity in development of neural-crest derived cells, central nervous system, heart septation, and midline (PMID:17958891)
• NuRD and Zfhx1b functionally interact, and defective NuRD recruitment by mutant human ZFHX1B can be a Mowat-Wilson syndrome-causing mechanism. (PMID:18182442)
• Mowat–Wilson syndrome: the clinical report with the novel mutation in ZFHX1B (exon 8: c.2372del C; p.T791fsX816). (PMID:18259761)
• Data show that miR-200 and -205 microRNAs cooperatively regulate expression of the E-cadherin transcriptional repressors ZEB1 (also known as deltaEF1) and SIP1 (also known as ZEB2), factors previously implicated in EMT and tumour metastasis. (PMID:18376396)
• loss of expression of the miR-200 family members may play a critical role in the repression of E-cadherin by ZEB1 and ZEB2 during EMT, thereby enhancing migration and invasion during cancer progression. (PMID:18411277)
• A double-negative feedback loop controlling ZEB1-SIP1 and miR-200 family expression. (PMID:18829540)
• study describes two sisters with clinical features of Mowat-Wilson syndrome in whom the same nonsense mutation in the ZEB2 gene was found (PMID:19006215)
• In conclusion, Multiplex Ligation-dependent Probe Amplification assessment of rearrangements in the RET proto-oncogene and in 3 other associated genes, ZEB2, EDN3 and GDNF did not show any variants in 80 sporadic Hirschsprung disease patients. (PMID:19183406)
• Mowat-Wilson syndrome is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. (PMID:19215041)
• Gene expression profiling of advanced-stage serous ovarian cancers distinguishes novel subclass and implicates ZEB2 in tmor progression and progression. (PMID:19486012)
• Ladybird homeobox 1 (LBX1), a developmentally regulated homeobox gene, directs expression of the known EMT inducers ZEB1, ZEB2, Snail1, and transforming growth factor beta2 (TGFB2). (PMID:19651985)
• The prognostic value of SIP1 and its role in DNA damage response establish a link between genetic instability and metastasis. (PMID:19706487)
• This study supports the rationale for developing SIP1 as a potential therapeutic and diagnostic target for gliomas (PMID:19806322)
• This study demonstrated that miR-141 levels correlate inversely with SIP1 protein levels as well as cell migration and invasion of CRC cells; SIP1 was identified as a functional target of miR-141. (PMID:19830559)
• This report, the first such analysis in North American patients, adds to the growing list of both novel pathogenic mutations associated with Mowat-Wilson syndrome, as well as other variants in the ZEB2 gene. (PMID:19842203)
• ZEB2 and CTNNB1 are the functional downstream targets of miR-200a and they play distinct roles in regulating nasopharyngeal carcinoma development. (PMID:19931509)
• demonstrate that Smad-interacting protein 1 (SIP1) limits the mesendoderm-inducing effects of Activin-Nodal signaling without inhibiting the pluripotency-maintaining effects exerted by SMAD2/3. (PMID:20074535)
• Heterozygous deletion of the ZEB2 gene is associated with Mowat-Wilson syndrome. (PMID:20145308)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	zeb2b	ENSDARG00000078416
mus_musculus	Zeb2	ENSMUSG00000026872
rattus_norvegicus	Zeb2	ENSRNOG00000004677

Paralogs (1): ZEB1 (ENSG00000148516)

Protein

Protein identifiers

Zinc finger E-box-binding homeobox 2 — O60315 (reviewed: O60315)

Alternative names: Smad-interacting protein 1, Zinc finger homeobox protein 1b

All UniProt accessions (27): A0A0D9SF71, A0A0D9SF74, A0A0D9SG93, A0A0D9SGG5, A0A1B0GTH3, A0A1B0GUM8, A0A1B0GV02, A0A1B0GVV8, A0A1B0GW50, A0A1B0GWA7, A0A1W2PS25, A0A1X7SC99, A0A2R8YDQ8, A0A6Q8PH34, A0A8I5KV18, A0JP08, C9JU62, C9JUQ1, E7ESP8, E7EUW9, E7EVG9, O60315, H7C0G0, U3KPV5, U3KPX6, U3KQ33, U3KQ51

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional inhibitor that binds to DNA sequence 5’-CACCT-3’ in different promoters. Represses transcription of E-cadherin. Represses expression of MEOX2.

Subunit / interactions. Binds activated SMAD1, activated SMAD2 and activated SMAD3; binding with SMAD4 is not detected. Interacts with CBX4 and CTBP1.

Subcellular location. Nucleus. Chromosome.

Post-translational modifications. Sumoylation on Lys-391 and Lys-866 is promoted by the E3 SUMO-protein ligase CBX4, and impairs interaction with CTBP1 and transcription repression activity.

Disease relevance. Mowat-Wilson syndrome (MOWS) [MIM:235730] A complex developmental disorder characterized by intellectual disability, delayed motor development, epilepsy, microcephaly and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Affected patients show an easily recognizable facial appearance with deep set eyes and hypertelorism, medially divergent, broad eyebrows, prominent columella, pointed chin and uplifted, notched ear lobes. Some patients manifest Hirschsprung disease. The disease is caused by variants affecting the gene represented in this entry.

Induction. Down-regulated by microRNA-221 (miR-221).

Similarity. Belongs to the delta-EF1/ZFH-1 C2H2-type zinc-finger family.

Isoforms (2)

UniProt ID	Names	Canonical?
O60315-1	1	yes
O60315-2	2

RefSeq proteins (2): NP_001165124, NP_055610* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001356	HD	Domain
IPR008598	Di19_Zn-bd	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR051574	ZnF_E-box_Homeobox	Family

Pfam: PF00096, PF05605

UniProt features (57 total): modified residue 13, compositionally biased region 10, cross-link 9, zinc finger region 8, region of interest 6, sequence variant 4, helix 3, chain 1, splice variant 1, sequence conflict 1, DNA-binding region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2DA7	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60315-F1	48.91	0.05

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 (22): 142, 356, 360, 364, 377, 647, 731, 780, 782, 784, 1122, 1124, 1203, 391, 391, 479, 555, 611, 632, 713 …

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-9762293	Regulation of CDH11 gene transcription
R-HSA-9764725	Negative Regulation of CDH1 Gene Transcription
R-HSA-9764790	Positive Regulation of CDH1 Gene Transcription
R-HSA-9823739	Formation of the anterior neural plate
R-HSA-9832991	Formation of the posterior neural plate

MSigDB gene sets: 1171 (showing top): GOBP_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION, AHRARNT_01, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, RNGTGGGC_UNKNOWN, AGGAAGC_MIR5163P, GOBP_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS, GCM_MAP4K4, GOBP_LENS_FIBER_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, BENPORATH_ES_WITH_H3K27ME3, GOBP_PHENOL_CONTAINING_COMPOUND_BIOSYNTHETIC_PROCESS, GCM_PTPRD

GO Biological Process (38): negative regulation of transcription by RNA polymerase II (GO:0000122), neural crest cell migration (GO:0001755), somitogenesis (GO:0001756), neural tube closure (GO:0001843), endothelial cell proliferation (GO:0001935), regulation of transcription by RNA polymerase II (GO:0006357), nervous system development (GO:0007399), central nervous system development (GO:0007417), negative regulation of fibroblast migration (GO:0010764), corpus callosum morphogenesis (GO:0021540), hippocampus development (GO:0021766), cell proliferation in forebrain (GO:0021846), corticospinal tract morphogenesis (GO:0021957), positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511), myofibroblast differentiation (GO:0036446), stress fiber assembly (GO:0043149), endothelial cell migration (GO:0043542), positive regulation of melanocyte differentiation (GO:0045636), positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of melanin biosynthetic process (GO:0048023), developmental pigmentation (GO:0048066), astrocyte activation (GO:0048143), collateral sprouting (GO:0048668), positive regulation of axonogenesis (GO:0050772), mammillary axonal complex development (GO:0061373), pyroptotic inflammatory response (GO:0070269), fibroblast activation (GO:0072537), positive regulation of canonical Wnt signaling pathway (GO:0090263), response to oxygen-glucose deprivation (GO:0090649), melanocyte migration (GO:0097324), positive regulation of lens fiber cell differentiation (GO:1902748), regulation of melanosome organization (GO:1903056), positive regulation of myofibroblast contraction (GO:1904330), regulation of myofibroblast cell apoptotic process (GO:1904520), regulation of blood-brain barrier permeability (GO:1905603), positive regulation of Wnt signaling pathway (GO:0030177), negative regulation of DNA-templated transcription (GO:0045892), embryonic morphogenesis (GO:0048598)

GO Molecular Function (11): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), zinc ion binding (GO:0008270), phosphatase regulator activity (GO:0019208), R-SMAD binding (GO:0070412), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (6): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), plasma membrane (GO:0005886), chromosome (GO:0005694)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Regulation of CDH1 Gene Transcription	2
Gastrulation	2
Regulation of CDH11 Expression and Function	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	4
regulation of transcription by RNA polymerase II	3
transcription by RNA polymerase II	3
regulation of DNA-templated transcription	2
system development	2
central nervous system projection neuron axonogenesis	2
DNA-binding transcription factor activity, RNA polymerase II-specific	2
cellular anatomical structure	2
nuclear lumen	2
intracellular membraneless organelle	2
negative regulation of DNA-templated transcription	1
neural crest cell development	1
mesenchymal cell migration	1
anterior/posterior pattern specification	1
segmentation	1
chordate embryonic development	1
anatomical structure formation involved in morphogenesis	1
somite development	1
primary neural tube formation	1
tube closure	1
epithelial cell proliferation	1
nervous system development	1
fibroblast migration	1
regulation of fibroblast migration	1
negative regulation of cell migration	1
corpus callosum development	1
pallium development	1
limbic system development	1
anatomical structure development	1
forebrain development	1
neural precursor cell proliferation	1
transforming growth factor beta receptor signaling pathway	1
regulation of transforming growth factor beta receptor signaling pathway	1
positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	1
positive regulation of cellular response to transforming growth factor beta stimulus	1
cell differentiation	1
contractile actin filament bundle assembly	1
actomyosin structure organization	1
cell migration	1
melanocyte differentiation	1

Protein interactions and networks

STRING

2956 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZEB2	CDH1	P12830	954
ZEB2	VIM	P08670	889
ZEB2	ARHGAP31	Q2M1Z3	832
ZEB2	TWIST1	Q15672	829
ZEB2	CHURC1	Q8WUH1	797
ZEB2	CDH2	P19022	787
ZEB2	TWIST2	Q8WVJ9	748
ZEB2	SMAD3	P84022	711
ZEB2	SOX2	P48431	705
ZEB2	CTBP1	Q13363	700
ZEB2	SMAD4	Q13485	681
ZEB2	CTNNB1	P35222	672
ZEB2	KIFBP	Q96EK5	646
ZEB2	FN1	P02751	642
ZEB2	COL1A2	P02464	636

IntAct

90 interactions, top by confidence:

A	B	Type	Score
CTBP1	ZEB2	psi-mi:“MI:0914”(association)	0.800
CTBP1	CBX4	psi-mi:“MI:0914”(association)	0.700
NFIC	NFIB	psi-mi:“MI:2364”(proximity)	0.690
HDAC1	ZEB2	psi-mi:“MI:0914”(association)	0.640
MTA1	ZEB2	psi-mi:“MI:0914”(association)	0.610
ZEB2	MTA1	psi-mi:“MI:0914”(association)	0.610
MTA1	ZEB2	psi-mi:“MI:0407”(direct interaction)	0.610
ZEB2	MTA2	psi-mi:“MI:0914”(association)	0.580
ZEB2	EHMT2	psi-mi:“MI:0407”(direct interaction)	0.580
MTA2	ZEB2	psi-mi:“MI:0407”(direct interaction)	0.580
EN1	NFIB	psi-mi:“MI:2364”(proximity)	0.470
ZEB2	MBD3	psi-mi:“MI:0914”(association)	0.460
ZEB2	MEOX2	psi-mi:“MI:0915”(physical association)	0.400
CTBP1	ZEB2	psi-mi:“MI:0915”(physical association)	0.370
SMAD2	ZEB2	psi-mi:“MI:0915”(physical association)	0.370
ZEB2	SMAD3	psi-mi:“MI:0915”(physical association)	0.370
ZEB2	SMAD9	psi-mi:“MI:0915”(physical association)	0.370
SMAD1	ZEB2	psi-mi:“MI:0915”(physical association)	0.370
MTA1	PRMT5	psi-mi:“MI:0914”(association)	0.350
ZEB2	EHMT2	psi-mi:“MI:0914”(association)	0.350
ZEB2	MTA3	psi-mi:“MI:0914”(association)	0.350

BioGRID (147): ZEB2 (Affinity Capture-RNA), ZEB2 (Affinity Capture-MS), ZEB2 (Affinity Capture-MS), SMAD1 (Affinity Capture-Western), ZEB2 (Affinity Capture-Western), ZEB2 (Affinity Capture-MS), ZEB2 (Affinity Capture-MS), ZEB2 (Affinity Capture-RNA), ZEB2 (Affinity Capture-Western), FBXW7 (Affinity Capture-Western), ZEB2 (Proximity Label-MS), ZEB2 (Affinity Capture-Western), COPS6 (Two-hybrid), ZEB2 (Proximity Label-MS), ZEB2 (Affinity Capture-MS)

ESM2 similar proteins: A0A3Q7GFB5, A2X0Q0, B7ZRT8, C5E4H7, D8VNC6, F4JYZ8, H2KYW5, K4BIZ9, O22900, O22921, O49250, O60315, O64747, O65590, P19538, P25364, P26343, P33400, P46676, P46974, P91943, Q03373, Q12753, Q29CV2, Q29CW2, Q688D0, Q6DIB4, Q6YXZ4, Q8I4M5, Q8LFV3, Q8S8P5, Q8VWJ2, Q8VWV6, Q90XW5, Q90XW6, Q93WV0, Q93WV4, Q93WV6, Q9C519, Q9C5T4

Diamond homologs: A0A5E4M3Q4, O60315, Q9R0G7, A0A5K4F1D0, A0JC51, A4FV57, O57311, O60481, O73689, O95409, P08151, P10070, P10071, P19538, P25490, P34708, P36197, P39768, P46684, P47806, P55878, P55879, Q00899, Q0VGT2, Q15915, Q17308, Q5IS56, Q60542, Q61467, Q61602, Q62520, Q62521, Q62947, Q64318, Q6DJQ6, Q6GR30, Q6XP49, Q6ZN18, Q7JNM3, Q7K0S9

SIGNOR signaling

25 interactions.

A	Effect	B	Mechanism
CBX4	“down-regulates activity”	ZEB2	sumoylation
CTBP1	“up-regulates activity”	ZEB2	binding
ZEB2	“down-regulates quantity by repression”	CDH1	“transcriptional regulation”
ZEB2	“down-regulates quantity by repression”	MEOX2	“transcriptional regulation”
ZEB2	“up-regulates activity”	CTBP1	binding
ZEB2	“up-regulates quantity by expression”	VDR	“transcriptional regulation”
FBXO45	“down-regulates quantity by destabilization”	ZEB2	binding
“Skp1-Pam E3”	“down-regulates quantity by destabilization”	ZEB2	polyubiquitination
SNAI1	“up-regulates quantity by expression”	ZEB2	“transcriptional regulation”
ZEB2	“down-regulates quantity by repression”	PKP2	“transcriptional regulation”
ZEB2	“down-regulates quantity by repression”	GJB2	“transcriptional regulation”
ZEB2	“down-regulates quantity by repression”	TJP3	“transcriptional regulation”
hsa-miR-200a-3p	“down-regulates quantity by destabilization”	ZEB2	“post transcriptional regulation”
hsa-mir-200b-3p	“down-regulates quantity by destabilization”	ZEB2	“post transcriptional regulation”
hsa-miR-200c-3p	“down-regulates quantity by destabilization”	ZEB2	“post transcriptional regulation”
hsa-miR-141-3p	“down-regulates quantity by destabilization”	ZEB2	“post transcriptional regulation”
miR-429	“down-regulates quantity by destabilization”	ZEB2	“post transcriptional regulation”
mir-205	“down-regulates quantity by destabilization”	ZEB2	“post transcriptional regulation”
ZEB2	“down-regulates quantity by destabilization”	mir-205	“post transcriptional regulation”
ZEB2	“down-regulates quantity by destabilization”	hsa-miR-200a-3p	“post transcriptional regulation”
ZEB2	“down-regulates quantity by destabilization”	hsa-mir-200b-3p	“post transcriptional regulation”
miR221	“down-regulates quantity by repression”	ZEB2	destabilization
CBX4	“down-regulates quantity by destabilization”	ZEB2	sumoylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 89 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
Transcriptional regulation of brown and beige adipocyte differentiation by EBF2	8	45.5×	2e-09
Regulation of TP53 Activity through Acetylation	5	34.1×	9e-06
RNA Polymerase I Transcription Initiation	8	26.7×	9e-08
Gastrulation	6	23.2×	7e-06
Regulation of PTEN gene transcription	8	21.3×	3e-07
Deactivation of the beta-catenin transactivating complex	6	20.9×	1e-05
ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression	8	18.2×	8e-07
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	8	17.5×	1e-06

GO biological processes:

GO term	Partners	Fold	FDR
regulation of stem cell differentiation	8	73.8×	1e-11
positive regulation of miRNA transcription	7	24.5×	2e-06
anatomical structure morphogenesis	8	13.4×	1e-05
transcription by RNA polymerase II	11	9.3×	3e-06
chromatin remodeling	10	8.8×	1e-05
neuron differentiation	6	7.2×	5e-03
positive regulation of gene expression	11	5.1×	5e-04
negative regulation of cell population proliferation	10	5.1×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

1593 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	315
Likely pathogenic	69
Uncertain significance	517
Likely benign	426
Benign	79

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1029309	NM_014795.4(ZEB2):c.2886+1G>A	Pathogenic
1064789	NM_014795.4(ZEB2):c.3088C>T (p.Gln1030Ter)	Pathogenic
1069634	NM_014795.4(ZEB2):c.874A>T (p.Lys292Ter)	Pathogenic
1071228	NM_014795.4(ZEB2):c.31del (p.Arg11fs)	Pathogenic
1071230	NM_014795.4(ZEB2):c.2592del (p.Phe864fs)	Pathogenic
1071821	NM_014795.4(ZEB2):c.3094del (p.Cys1032fs)	Pathogenic
1072089	NC_000002.11:g.(?145147018)(145753167_?)del	Pathogenic
1072214	NM_014795.4(ZEB2):c.818_821dup (p.Gln275fs)	Pathogenic
1074356	NM_014795.4(ZEB2):c.1038_1039del (p.Asn346fs)	Pathogenic
1076322	NM_014795.4(ZEB2):c.696C>A (p.Tyr232Ter)	Pathogenic
1164069	NM_014795.4(ZEB2):c.3242G>A (p.Cys1081Tyr)	Pathogenic
1172771	NM_014795.4(ZEB2):c.2717del (p.Pro906fs)	Pathogenic
1180834	NM_014795.4(ZEB2):c.625C>T (p.Gln209Ter)	Pathogenic
1184005	NM_014795.4(ZEB2):c.2954del (p.Cys985fs)	Pathogenic
1320072	NM_014795.4(ZEB2):c.73+1G>A	Pathogenic
1320108	NM_014795.4(ZEB2):c.1209del (p.Met404fs)	Pathogenic
1320148	NM_014795.4(ZEB2):c.769G>T (p.Glu257Ter)	Pathogenic
1320156	NM_014795.4(ZEB2):c.1170del (p.Thr392fs)	Pathogenic
1320255	NM_014795.4(ZEB2):c.1052del (p.Gly351fs)	Pathogenic
1320262	NM_014795.4(ZEB2):c.2056G>T (p.Glu686Ter)	Pathogenic
1321944	NM_014795.4(ZEB2):c.3149C>G (p.Ser1050Trp)	Pathogenic
1323780	NM_014795.4(ZEB2):c.1200_1201del (p.Tyr400_Lys401delinsTer)	Pathogenic
1350184	NM_014795.4(ZEB2):c.1866dup (p.Asn623fs)	Pathogenic
1367594	NM_014795.4(ZEB2):c.1700_1703dup (p.Asp568_Asp569insTer)	Pathogenic
1376989	NM_014795.4(ZEB2):c.1630_1631del (p.Thr544fs)	Pathogenic
1377334	NM_014795.4(ZEB2):c.2745del (p.Ser916fs)	Pathogenic
1418131	NM_014795.4(ZEB2):c.313del (p.Ala105fs)	Pathogenic
1428527	NM_014795.4(ZEB2):c.3154G>T (p.Glu1052Ter)	Pathogenic
1439087	NM_014795.4(ZEB2):c.2122del (p.Leu708fs)	Pathogenic
1445094	NM_014795.4(ZEB2):c.712G>T (p.Glu238Ter)	Pathogenic

SpliceAI

2401 predictions. Top by Δscore:

Variant	Effect	Δscore
2:144389476:T:TA	donor_gain	1.0000
2:144396407:CATA:C	donor_loss	1.0000
2:144396408:ATACC:A	donor_loss	1.0000
2:144396409:TA:T	donor_loss	1.0000
2:144396410:ACCT:A	donor_loss	1.0000
2:144396589:CTCC:C	acceptor_gain	1.0000
2:144396593:C:CC	acceptor_gain	1.0000
2:144396593:CTG:C	acceptor_loss	1.0000
2:144396594:T:G	acceptor_loss	1.0000
2:144401198:CCA:C	donor_gain	1.0000
2:144401303:TGGTG:T	acceptor_gain	1.0000
2:144401304:GGTG:G	acceptor_gain	1.0000
2:144401305:GTG:G	acceptor_gain	1.0000
2:144401306:TG:T	acceptor_gain	1.0000
2:144401306:TGC:T	acceptor_loss	1.0000
2:144401307:GCT:G	acceptor_loss	1.0000
2:144401308:C:CC	acceptor_gain	1.0000
2:144401308:CTATA:C	acceptor_loss	1.0000
2:144401310:A:AC	acceptor_gain	1.0000
2:144401310:A:C	acceptor_gain	1.0000
2:144403899:TAAA:T	donor_gain	1.0000
2:144403900:AAAA:A	donor_gain	1.0000
2:144403925:C:A	donor_gain	1.0000
2:144404010:T:TA	donor_gain	1.0000
2:144404126:CAGGT:C	acceptor_gain	1.0000
2:144404127:AGGT:A	acceptor_gain	1.0000
2:144404128:GGT:G	acceptor_gain	1.0000
2:144404129:GT:G	acceptor_gain	1.0000
2:144404131:C:CC	acceptor_gain	1.0000
2:144404132:T:C	acceptor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000026129 (2:144410753 T>G), RS1000041896 (2:144411453 T>A), RS1000047948 (2:144507052 T>C), RS1000053543 (2:144402864 G>A), RS1000072358 (2:144512328 C>T), RS1000087121 (2:144417315 C>T), RS1000092738 (2:144520455 T>C), RS1000141644 (2:144404322 T>TC), RS1000146747 (2:144464389 T>A), RS1000156874 (2:144442662 T>C), RS1000171000 (2:144417751 A>C), RS1000185583 (2:144485036 T>G), RS1000217671 (2:144465053 C>T), RS1000231580 (2:144438675 C>T), RS1000233550 (2:144424098 C>T)

Disease associations

OMIM: gene MIM:605802 | disease phenotypes: MIM:235730, MIM:603387, MIM:606369, MIM:142623, MIM:617468, MIM:208150

GenCC curated gene-disease

Disease	Classification	Inheritance
Mowat-Wilson syndrome	Definitive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
Mowat-Wilson syndrome	Definitive	AD

Mondo (11): Mowat-Wilson syndrome (MONDO:0009341), neurodevelopmental disorder (MONDO:0700092), congenital nervous system disorder (MONDO:0002320), intellectual disability (MONDO:0001071), megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (MONDO:0011313), megacolon (MONDO:0001273), cleft lip/palate (MONDO:0016044), Lennox-Gastaut syndrome (MONDO:0016532), Hirschsprung disease (MONDO:0018309), arthrogryposis multiplex congenita (MONDO:0015168), fetal akinesia deformation sequence 1 (MONDO:0100101)

Orphanet (8): Mowat-Wilson syndrome (Orphanet:2152), Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome (Orphanet:83473), Cleft lip/palate (Orphanet:199306), Lennox-Gastaut syndrome (Orphanet:2382), Hirschsprung disease (Orphanet:388), Arthrogryposis multiplex congenita (Orphanet:1037), Fetal akinesia deformation sequence (Orphanet:994), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

194 total (30 of 194 shown, HPO-id order):

HPO	Term
HP:0000003	Multicystic kidney dysplasia
HP:0000006	Autosomal dominant inheritance
HP:0000020	Urinary incontinence
HP:0000028	Cryptorchidism
HP:0000034	Hydrocele testis
HP:0000041	Chordee
HP:0000047	Hypospadias
HP:0000048	Bifid scrotum
HP:0000054	Micropenis
HP:0000075	Renal duplication
HP:0000076	Vesicoureteral reflux
HP:0000077	Abnormality of the kidney
HP:0000078	Abnormality of the genital system
HP:0000119	Abnormality of the genitourinary system
HP:0000125	Pelvic kidney
HP:0000126	Hydronephrosis
HP:0000175	Cleft palate
HP:0000176	Submucous cleft hard palate
HP:0000179	Thick lower lip vermilion
HP:0000193	Bifid uvula
HP:0000194	Open mouth
HP:0000212	Gingival overgrowth
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000286	Epicanthus
HP:0000303	Mandibular prognathia
HP:0000307	Pointed chin
HP:0000316	Hypertelorism
HP:0000322	Short philtrum
HP:0000358	Posteriorly rotated ears

GWAS associations

48 associations (top):

Study	Trait	p-value
GCST001662_7	Generalized epilepsy	9.000000e-09
GCST001750_1	Renal cell carcinoma	2.000000e-08
GCST001762_607	Obesity-related traits	5.000000e-07
GCST002117_2	Myopia (severe)	6.000000e-10
GCST002149_15	Schizophrenia	1.000000e-08
GCST002835_2	Renal cell carcinoma	2.000000e-07
GCST003116_36	Coronary artery disease	3.000000e-09
GCST003117_12	Myocardial infarction	9.000000e-06
GCST003989_9	Chin dimples	8.000000e-30
GCST003992_25	Photic sneeze reflex	1.000000e-260
GCST004787_48	Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease)	1.000000e-07
GCST005194_97	Coronary artery disease	4.000000e-09
GCST005196_208	Coronary artery disease	3.000000e-07
GCST005830_72	Hand grip strength	5.000000e-09
GCST005992_29	Mean corpuscular hemoglobin concentration	1.000000e-10
GCST005993_1	Mean corpuscular hemoglobin	4.000000e-29
GCST005996_43	Red blood cell count	4.000000e-11
GCST006011_22	Mean corpuscular volume	6.000000e-23
GCST006291_55	Spherical equivalent or myopia (age of diagnosis)	5.000000e-11
GCST006627_34	Diastolic blood pressure	5.000000e-12
GCST006630_49	Diastolic blood pressure	5.000000e-13
GCST006803_66	Schizophrenia	6.000000e-10
GCST007159_20	Corneal astigmatism	6.000000e-06
GCST007323_3	Risk-taking tendency (4-domain principal component model)	4.000000e-09
GCST007324_8	Adventurousness	9.000000e-10
GCST007325_275	General risk tolerance (MTAG)	2.000000e-13
GCST007327_118	Smoking status (ever vs never smokers)	3.000000e-09
GCST007327_15	Smoking status (ever vs never smokers)	2.000000e-08
GCST007327_180	Smoking status (ever vs never smokers)	3.000000e-12
GCST007327_189	Smoking status (ever vs never smokers)	9.000000e-12

EFO canonical traits (18, from GWAS)

EFO ID	Trait name
EFO:0005190	urinary nitrogen measurement
EFO:0004207	pathological myopia
EFO:0007887	autosomal dominant compelling helio-ophthalmic outburst syndrome
EFO:0006941	grip strength measurement
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0004527	mean corpuscular hemoglobin
EFO:0004305	erythrocyte count
EFO:0004847	age at onset
EFO:0006336	diastolic blood pressure
EFO:1002040	Corneal astigmatism
EFO:0008579	risk-taking behaviour
EFO:0004318	smoking behavior
EFO:0009928	Diuretic use measurement
EFO:0004337	intelligence
EFO:0004784	self reported educational attainment
EFO:0010698	retinal break
EFO:0004530	triglyceride measurement
EFO:0004327	electrocardiography

MeSH disease descriptors (7)

Descriptor	Name	Tree numbers
D006627	Hirschsprung Disease	C06.198.439; C06.405.469.158.701.439; C16.131.314.439
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D065768	Lennox Gastaut Syndrome	C10.228.140.490.493.750; C16.320.495
D008531	Megacolon	C06.405.469.158.701
D065886	Neurodevelopmental Disorders	F03.625
C566381	Megalancephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome (supp.)
C536990	Mowat-Wilson syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

97 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases expression	5
sodium arsenite	decreases expression, increases expression	3
Benzo(a)pyrene	increases expression, affects methylation, decreases expression, decreases methylation	3
Cisplatin	decreases expression, increases reaction, decreases response to substance, increases expression	3
mercuric bromide	decreases expression, affects cotreatment	2
Resveratrol	affects cotreatment, increases expression, affects expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tretinoin	decreases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
aristolochic acid I	decreases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
GSK-J4	increases expression	1
FR900359	increases phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
TAK-243	decreases sumoylation	1
methylmercuric chloride	decreases expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
beta-thujone	affects cotreatment, increases expression	1
bisphenol A	increases methylation	1
deoxynivalenol	increases expression	1
testosterone undecanoate	affects cotreatment, decreases expression	1
spathulenol	affects cotreatment, increases expression	1
arsenite	affects binding, decreases reaction	1
schizandrin B	affects cotreatment, decreases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
sulforaphane	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
linalool	affects cotreatment, increases expression	1
caryophyllene	increases expression, affects cotreatment	1
4-O-methylascochlorin	increases expression	1

Cellosaurus cell lines

12 cell lines: 6 cancer cell line, 5 induced pluripotent stem cell, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B5S1	KICRi002-A-4	Induced pluripotent stem cell	Male
CVCL_B8AL	Abcam Raji ZEB2 KO	Cancer cell line	Male
CVCL_C0BG	Abcam THP-1 ZEB2 KO	Cancer cell line	Male
CVCL_C7D3	Abcam PC-3 ZEB2 KO	Cancer cell line	Male
CVCL_D6MQ	IGGi004-A	Induced pluripotent stem cell	Female
CVCL_D6MR	IGGi005-A	Induced pluripotent stem cell	Female
CVCL_E0TA	Ubigene HeLa ZEB2 KO	Cancer cell line	Female
CVCL_HD04	HEK293 eGFP-ZEB2	Transformed cell line	Female
CVCL_TZ12	HAP1 ZEB2 (-) 1	Cancer cell line	Male
CVCL_WT81	UUIGPi004-A	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

204 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT07476417	Not specified	NOT_YET_RECRUITING	Oral Health, Dento-facial Condition and OHRQoL in Subjects With Mowat-Wilson Syndrome: an Epidemiologic Study.
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
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NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674	Not specified	UNKNOWN	Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
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NCT02912780	Not specified	UNKNOWN	Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293	Not specified	COMPLETED	n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644	Not specified	COMPLETED	Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991	Not specified	UNKNOWN	Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189	Not specified	TERMINATED	Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028	Not specified	COMPLETED	Developmental Origins of Mental Health Disorders
NCT03148782	Not specified	COMPLETED	Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104	Not specified	COMPLETED	Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375	Not specified	RECRUITING	SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism