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Aliases for ZEB2 Gene

Aliases for ZEB2 Gene

  • Zinc Finger E-Box Binding Homeobox 2 2 3 5
  • SMAD Interacting Protein 1 2 3
  • Smad-Interacting Protein 1 3 4
  • Zinc Finger Homeobox 1b 2 3
  • SMADIP1 3 4
  • ZFHX1B 3 4
  • SIP1 3 4
  • Zinc Finger E-Box-Binding Homeobox 2 3
  • Zinc Finger Homeobox Protein 1b 4
  • KIAA0569 4
  • HSPC082 3
  • SIP-1 3
  • ZFX1B 4

External Ids for ZEB2 Gene

Previous HGNC Symbols for ZEB2 Gene

  • ZFHX1B

Previous GeneCards Identifiers for ZEB2 Gene

  • GC02M144863
  • GC02M145145
  • GC02M137133
  • GC02M145121

Summaries for ZEB2 Gene

Entrez Gene Summary for ZEB2 Gene

  • 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.[provided by RefSeq, Jan 2010]

GeneCards Summary for ZEB2 Gene

ZEB2 (Zinc Finger E-Box Binding Homeobox 2) is a Protein Coding gene. Diseases associated with ZEB2 include Mowat-Wilson Syndrome and Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation. Among its related pathways are MicroRNAs in cancer and TGF-beta Receptor Signaling (WikiPathways). Gene Ontology (GO) annotations related to this gene include nucleic acid binding and phosphatase regulator activity. An important paralog of this gene is ZEB1.

UniProtKB/Swiss-Prot for ZEB2 Gene

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

Gene Wiki entry for ZEB2 Gene

Additional gene information for ZEB2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZEB2 Gene

Genomics for ZEB2 Gene

GeneHancer (GH) Regulatory Elements for ZEB2 Gene

Promoters and enhancers for ZEB2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J144502 Promoter/Enhancer 3.3 VISTA UCNEbase EPDnew FANTOM5 Ensembl ENCODE dbSUPER 665.1 +10.8 10767 23.6 HDGF PKNOX1 SMAD1 ARNT SIN3A FEZF1 ZNF2 IRF4 YY1 POLR2B ZEB2 GTDC1 ZEB2-AS1 ENSG00000275372 LINC01412 ENSG00000277444 GC02P144532 GC02P144531 ENSG00000273537 LOC105373656
GH02J144700 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 35.6 -178.7 -178718 5.4 PKNOX1 ATF1 ARNT TCF12 ZNF766 ATF7 FOS CAVIN1 NCOA1 REST ENSG00000276706 GC02P144706 ZEB2 GTDC1 GC02M144696 ENSG00000234940 TEX41
GH02J144659 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 37.2 -136.1 -136107 2.9 HDGF PKNOX1 ATF1 FOXA2 ZNF766 FOS ATF7 ZNF592 GMEB1 SMARCA4 ZEB2 TEX41 GTDC1 GC02P144567
GH02J144606 Enhancer 1.6 UCNEbase FANTOM5 Ensembl ENCODE 32.4 -83.2 -83179 3.2 L3MBTL2 CEBPB MAFG GTF2A2 ZNF592 MAFF ZNF316 NFE2 KDM1A MAFK ZEB2 GTDC1 GC02P144567 TEX41
GH02J144451 Promoter/Enhancer 2.6 UCNEbase FANTOM5 Ensembl ENCODE dbSUPER 19.3 +67.0 67030 12 PKNOX1 ATF1 ARNT FEZF1 ZNF2 IRF4 TCF12 ZNF121 ZNF213 ZFP91 ZEB2 ZEB2-AS1 ENSG00000231758 GTDC1 ENSG00000283118 GC02P144494
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZEB2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ZEB2 gene promoter:
  • AP-1
  • c-Jun
  • ATF-2
  • E2F-5
  • YY1
  • RelA
  • E2F-4
  • E2F-3a
  • E2F-2
  • E2F-1

Genomic Locations for ZEB2 Gene

Genomic Locations for ZEB2 Gene
160,220 bases
Minus strand
140,500 bases
Minus strand

Genomic View for ZEB2 Gene

Genes around ZEB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZEB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZEB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZEB2 Gene

Proteins for ZEB2 Gene

  • Protein details for ZEB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Zinc finger E-box-binding homeobox 2
    Protein Accession:
    Secondary Accessions:
    • A0JP09
    • B7Z2P2
    • F5H814
    • Q9UED1

    Protein attributes for ZEB2 Gene

    1214 amino acids
    Molecular mass:
    136447 Da
    Quaternary structure:
    • Binds activated SMAD1, activated SMAD2 and activated SMAD3; binding with SMAD4 is not detected (By similarity). Interacts with CBX4 and CTBP1.
    • Sequence=BAA25495.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ZEB2 Gene

    Alternative splice isoforms for ZEB2 Gene


neXtProt entry for ZEB2 Gene

Post-translational modifications for ZEB2 Gene

  • 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.
  • Ubiquitination at posLast=632632
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for ZEB2

No data available for DME Specific Peptides for ZEB2 Gene

Domains & Families for ZEB2 Gene

Gene Families for ZEB2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the delta-EF1/ZFH-1 C2H2-type zinc-finger family.
  • Belongs to the delta-EF1/ZFH-1 C2H2-type zinc-finger family.
genes like me logo Genes that share domains with ZEB2: view

Function for ZEB2 Gene

Molecular function for ZEB2 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional inhibitor that binds to DNA sequence 5-CACCT-3 in different promoters. Represses transcription of E-cadherin.

Phenotypes From GWAS Catalog for ZEB2 Gene

Gene Ontology (GO) - Molecular Function for ZEB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0001205 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific DNA binding IEA --
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 20516212
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with ZEB2: view
genes like me logo Genes that share phenotypes with ZEB2: view

Human Phenotype Ontology for ZEB2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ZEB2 Gene

MGI Knock Outs for ZEB2:
  • Zeb2 Zeb2<tm1.2Yhi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZEB2

Clone Products

  • Addgene plasmids for ZEB2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ZEB2 Gene

Localization for ZEB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZEB2 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZEB2 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 2
cytoskeleton 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ZEB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 20516212
GO:0005634 nucleus IEA,IDA 24769727
GO:0005730 nucleolus IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with ZEB2: view

Pathways & Interactions for ZEB2 Gene

genes like me logo Genes that share pathways with ZEB2: view

Pathways by source for ZEB2 Gene

1 GeneTex pathway for ZEB2 Gene
2 BioSystems pathways for ZEB2 Gene
1 KEGG pathway for ZEB2 Gene

Gene Ontology (GO) - Biological Process for ZEB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 24769727
GO:0001755 neural crest cell migration IEA --
GO:0001756 somitogenesis IEA --
GO:0001843 neural tube closure IEA --
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with ZEB2: view

No data available for SIGNOR curated interactions for ZEB2 Gene

Drugs & Compounds for ZEB2 Gene

(1) Drugs for ZEB2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with ZEB2: view

Transcripts for ZEB2 Gene

mRNA/cDNA for ZEB2 Gene

Unigene Clusters for ZEB2 Gene

Zinc finger E-box binding homeobox 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZEB2

Clone Products

  • Addgene plasmids for ZEB2

Alternative Splicing Database (ASD) splice patterns (SP) for ZEB2 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c · 9d · 9e ^ 10a · 10b · 10c ^ 11a · 11b ·
SP1: - - - - - - - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - - - - - -
SP5: - - - - - - - -
SP6: - - - - - - - -
SP7: - - - - - - - - - - - - -
SP8: - - - - - - -
SP9: - - - - - - - - - - -
SP10: - - -
SP11: - -
SP12: - - - - - - -
SP15: - - - -
SP16: - - - - - -

ExUns: 11c ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16
SP1: -

Relevant External Links for ZEB2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ZEB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ZEB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ZEB2 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x5.2).

Protein differential expression in normal tissues from HIPED for ZEB2 Gene

This gene is overexpressed in Plasma (13.5), Pancreatic juice (11.2), and Monocytes (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZEB2 Gene

Protein tissue co-expression partners for ZEB2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ZEB2 Gene:


SOURCE GeneReport for Unigene cluster for ZEB2 Gene:


Evidence on tissue expression from TISSUES for ZEB2 Gene

  • Gall bladder(5)
  • Nervous system(5)
  • Liver(4.4)
  • Lung(2.7)
  • Intestine(2.4)
  • Lymph node(2.4)
  • Kidney(2.3)
  • Muscle(2.1)
  • Spleen(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ZEB2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • salivary gland
  • skull
  • tooth
  • breast
  • chest wall
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
  • abdominal wall
  • intestine
  • large intestine
  • stomach
  • rectum
  • testicle
  • urethra
  • digit
  • finger
  • hand
  • upper limb
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with ZEB2: view

No data available for mRNA Expression by UniProt/SwissProt for ZEB2 Gene

Orthologs for ZEB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ZEB2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ZEB2 34 33
  • 99.81 (n)
(Bos Taurus)
Mammalia ZEB2 34
  • 98 (a)
(Monodelphis domestica)
Mammalia ZEB2 34
  • 96 (a)
(Canis familiaris)
Mammalia ZEB2 34 33
  • 93.95 (n)
(Mus musculus)
Mammalia Zeb2 16 34 33
  • 93.05 (n)
(Rattus norvegicus)
Mammalia Zeb2 33
  • 92.78 (n)
(Ornithorhynchus anatinus)
Mammalia ZEB2 34
  • 90 (a)
(Gallus gallus)
Aves ZEB2 34 33
  • 89.27 (n)
(Anolis carolinensis)
Reptilia ZEB2 34
  • 92 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia zeb2 33
  • 82.2 (n)
Str.11141 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.958 33
(Danio rerio)
Actinopterygii zeb2b 34 33
  • 70.76 (n)
zeb2a 34
  • 58 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5569 33
(Caenorhabditis elegans)
Secernentea F58G1.2 34
  • 19 (a)
tra-4 34
  • 15 (a)
Species where no ortholog for ZEB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ZEB2 Gene

Gene Tree for ZEB2 (if available)
Gene Tree for ZEB2 (if available)
Evolutionary constrained regions (ECRs) for ZEB2: view image

Paralogs for ZEB2 Gene

Paralogs for ZEB2 Gene

(32) SIMAP similar genes for ZEB2 Gene using alignment to 11 proteins:

  • A0JP08_HUMAN
  • C9JU62_HUMAN
  • H7C0G0_HUMAN
  • U3KQ33_HUMAN
  • U3KQ51_HUMAN Pseudogenes for ZEB2 Gene

genes like me logo Genes that share paralogs with ZEB2: view

Variants for ZEB2 Gene

Sequence variations from dbSNP and Humsavar for ZEB2 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs10179925 benign, Mowat-Wilson syndrome 144,387,467(-) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1060499770 likely-pathogenic, Abnormality of brain morphology 144,429,823(-) CTCCACCCTCC/CTCC 5_prime_UTR_variant, coding_sequence_variant, frameshift, genic_downstream_transcript_variant
rs1060500653 pathogenic, Mowat-Wilson syndrome 144,390,001(-) C/ coding_sequence_variant, frameshift, genic_downstream_transcript_variant
rs1060500654 uncertain-significance, likely-benign, Mowat-Wilson syndrome, not specified 144,398,981(-) TA/CG coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1060500655 uncertain-significance, Mowat-Wilson syndrome 144,389,688(-) G/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for ZEB2 Gene

Variant ID Type Subtype PubMed ID
esv1694349 CNV deletion 17803354
esv3575309 CNV gain 25503493
esv3584099 CNV loss 25503493
esv3592768 CNV loss 21293372
esv3592769 CNV loss 21293372
esv3592770 CNV loss 21293372
nsv1072982 CNV deletion 25765185
nsv1114142 CNV deletion 24896259
nsv215339 CNV deletion 16902084
nsv955260 CNV duplication 24416366

Variation tolerance for ZEB2 Gene

Residual Variation Intolerance Score: 9.53% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.51; 43.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZEB2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZEB2 Gene

Disorders for ZEB2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for ZEB2 Gene - From: HGMD, LncRNADisease, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mowat-wilson syndrome
  • mws
mowat-wilson syndrome due to a zeb2 point mutation
  • hirschsprung disease and intellectual disability due to a zeb2 point mutation
mowat-wilson syndrome due to monosomy 2q22
  • hirschsprung disease and intellectual disability due to 2q22 microdeletion
esophageal cancer
  • esophageal cancer, somatic
  • familial hypospadias
- elite association - COSMIC cancer census association via MalaCards
Search ZEB2 in MalaCards View complete list of genes associated with diseases


  • Mowat-Wilson syndrome (MOWS) [MIM:235730]: A complex developmental disorder characterized by mental retardation, 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. {ECO:0000269 PubMed:11448942, ECO:0000269 PubMed:12451214, ECO:0000269 PubMed:15384097, ECO:0000269 PubMed:16688751}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ZEB2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ZEB2: view

No data available for Genatlas for ZEB2 Gene

Publications for ZEB2 Gene

  1. A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype. (PMID: 16688751) Heinritz W … Schuster V (American journal of medical genetics. Part A 2006) 3 4 22 58
  2. Pc2-mediated sumoylation of Smad-interacting protein 1 attenuates transcriptional repression of E-cadherin. (PMID: 16061479) Long J … Park M (The Journal of biological chemistry 2005) 3 4 22 58
  3. Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21. (PMID: 15384097) Gregory-Evans CY … Gregory-Evans K (American journal of medical genetics. Part A 2004) 3 4 22 58
  4. Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease. (PMID: 11279515) Wakamatsu N … Nagaya M (Nature genetics 2001) 3 4 22 58
  5. Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease. (PMID: 11448942) Cacheux V … Goossens M (Human molecular genetics 2001) 3 4 22 58

Products for ZEB2 Gene

  • Addgene plasmids for ZEB2

Sources for ZEB2 Gene

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