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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 TGF-beta Signaling Pathway (WikiPathways) and TGF-beta Receptor Signaling (WikiPathways). 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

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

Genomics for ZEB2 Gene

Regulatory Elements for ZEB2 Gene

Enhancers for ZEB2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G144606 2.4 FANTOM5 Ensembl ENCODE 32.4 -83.2 -83179 3.2 L3MBTL2 CEBPB MAFG GTF2A2 ZIC2 ZNF592 MAFF ZNF316 IRF1 NFE2 ZEB2 GTDC1 GC02P144567 TEX41
GH02G144659 1.9 FANTOM5 Ensembl ENCODE dbSUPER 37.2 -136.1 -136107 2.9 HDGF PKNOX1 ATF1 FOXA2 CREB3L1 TCF12 ZNF766 GATA2 FOS KLF13 ZEB2 TEX41 GTDC1 GC02P144567
GH02G144700 1.9 FANTOM5 Ensembl ENCODE dbSUPER 35.6 -178.7 -178718 5.4 PKNOX1 ATF1 CREB3L1 ARNT TCF12 ZNF766 GATA2 FOS CAVIN1 NCOA1 ZEB2 GTDC1 ENSG00000276706 ENSG00000234940
GH02G144451 2.9 FANTOM5 Ensembl ENCODE dbSUPER 19.3 +67.0 67030 12.0 PKNOX1 ATF1 ARNT FEZF1 ZNF2 TCF12 ZNF121 GATA2 FOS ZNF548 ZEB2 ZEB2-AS1 ENSG00000231758 GTDC1 ENSG00000283118 GC02P144494
GH02G144502 3.2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 15.1 +10.8 10767 23.6 HDGF PKNOX1 FOXA2 CREB3L1 ARNT AGO1 SIN3A FEZF1 ZNF2 YY1 ZEB2 ZEB2-AS1 ENSG00000279166
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ZEB2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ZEB2 Gene

Chromosome:
2
Start:
144,364,364 bp from pter
End:
144,524,583 bp from pter
Size:
160,220 bases
Orientation:
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:
    O60315-ZEB2_HUMAN
    Recommended name:
    Zinc finger E-box-binding homeobox 2
    Protein Accession:
    O60315
    Secondary Accessions:
    • A0JP09
    • B7Z2P2
    • F5H814
    • Q9UED1

    Protein attributes for ZEB2 Gene

    Size:
    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.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

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

No data available for DME Specific Peptides for ZEB2 Gene

Domains & Families for ZEB2 Gene

Graphical View of Domain Structure for InterPro Entry

O60315

UniProtKB/Swiss-Prot:

ZEB2_HUMAN :
  • Belongs to the delta-EF1/ZFH-1 C2H2-type zinc-finger family.
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.

Gene Ontology (GO) - Molecular Function for ZEB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001205 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding IEA --
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding IDA 20516212
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 26028330
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ZEB2

Flow Cytometry Products

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

COMPARTMENTS
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

Gene Ontology (GO) - Cellular Components for ZEB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus 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 from RNA polymerase II promoter 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

Unigene Clusters for ZEB2 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ZEB2

Flow Cytometry Products

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: - - - - - - -
SP13:
SP14:
SP15: - - - -
SP16: - - - - - -

ExUns: 11c ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for ZEB2 Gene

GeneLoc Exon Structure for
ZEB2
ECgene alternative splicing isoforms for
ZEB2

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, PaxDb, MaxQB, and MOPED for ZEB2 Gene



Protein tissue co-expression partners for ZEB2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ZEB2 Gene:

ZEB2

SOURCE GeneReport for Unigene cluster for ZEB2 Gene:

Hs.34871

Evidence on tissue expression from TISSUES for ZEB2 Gene

  • Gall bladder(5)
  • Nervous system(5)
  • Liver(4.4)
  • Lung(2.7)
  • Intestine(2.3)
  • Kidney(2.3)
  • Lymph node(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
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
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
Thorax:
  • breast
  • chest wall
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • stomach
Pelvis:
  • rectum
  • testicle
  • urethra
Limb:
  • digit
  • finger
  • hand
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with ZEB2: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia ZEB2 34 35
  • 99.81 (n)
cow
(Bos Taurus)
Mammalia ZEB2 35
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ZEB2 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ZEB2 34 35
  • 93.95 (n)
mouse
(Mus musculus)
Mammalia Zeb2 34 16 35
  • 93.05 (n)
rat
(Rattus norvegicus)
Mammalia Zeb2 34
  • 92.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ZEB2 35
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZEB2 34 35
  • 89.27 (n)
lizard
(Anolis carolinensis)
Reptilia ZEB2 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zeb2 34
  • 82.2 (n)
Str.11141 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.958 34
zebrafish
(Danio rerio)
Actinopterygii zeb2b 34 35
  • 70.76 (n)
zeb2a 35
  • 58 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5569 34
worm
(Caenorhabditis elegans)
Secernentea F58G1.2 35
  • 19 (a)
ManyToMany
tra-4 35
  • 15 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for ZEB2 (if available)
TreeFam:
Gene Tree for ZEB2 (if available)

Paralogs for ZEB2 Gene

Variants for ZEB2 Gene

Sequence variations from dbSNP and Humsavar for ZEB2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs137852983 Pathogenic, Mowat-Wilson syndrome (MOWS) [MIM:235730] 144,389,740(-) CCCTC(A/G)GGGGT reference, missense
VAR_027017 Mowat-Wilson syndrome (MOWS) [MIM:235730]
VAR_035563 A colorectal cancer sample
rs1057518156 Pathogenic 144,399,087(-) CAGTA(C/G)TCAAA reference, stop-gained
rs1057518185 Pathogenic 144,396,571(-) GAGCA(C/T)AAGAC reference, stop-gained

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)

Relevant External Links for ZEB2 Gene

Human Gene Mutation Database (HGMD)
ZEB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZEB2

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

Disorders for ZEB2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for ZEB2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mowat-wilson syndrome
  • hirschsprung disease mental retardation syndrome
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
hypospadias
  • familial hypospadias
hirschsprung disease 1
  • hirschsprung's disease
- elite association - COSMIC cancer census association via MalaCards
Search ZEB2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ZEB2_HUMAN
  • 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.

Relevant External Links for ZEB2

Genetic Association Database (GAD)
ZEB2
Human Genome Epidemiology (HuGE) Navigator
ZEB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZEB2
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. (Am. J. Med. Genet. A 2006) 3 4 22 64
  2. Pc2-mediated sumoylation of Smad-interacting protein 1 attenuates transcriptional repression of E-cadherin. (PMID: 16061479) Long J. … Park M. (J. Biol. Chem. 2005) 3 4 22 64
  3. Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21. (PMID: 15384097) Gregory-Evans C.Y. … Gregory-Evans K. (Am. J. Med. Genet. A 2004) 3 4 22 64
  4. Mutations in SIP1, encoding Smad interacting protein 1, cause a form of Hirschsprung disease. (PMID: 11279515) Wakamatsu N. … Nagaya M. (Nat. Genet. 2001) 3 4 22 64
  5. Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease. (PMID: 11448942) Cacheux V. … Goossens M. (Hum. Mol. Genet. 2001) 3 4 22 64

Products for ZEB2 Gene

Sources for ZEB2 Gene

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