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Aliases for ZEB2 Gene

Aliases for ZEB2 Gene

  • Zinc Finger E-Box Binding Homeobox 2 2 3
  • SMADIP1 3 4 6
  • ZFHX1B 3 4 6
  • SIP1 3 4 6
  • SMAD Interacting Protein 1 2 3
  • Smad-Interacting Protein 1 3 4
  • Zinc Finger Homeobox 1b 2 3
  • 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 Symbols for ZEB2 Gene

  • ZFHX1B

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 monosomy 2q22. Among its related pathways are MicroRNAs in cancer and TGF-beta Receptor Signaling Pathway. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and SMAD binding. An important paralog of this gene is ZNF324.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZEB2 Gene

Genomics for ZEB2 Gene

Genomic Location for ZEB2 Gene

Start:
144,384,375 bp from pter
End:
144,524,580 bp from pter
Size:
140,206 bases
Orientation:
Minus strand

Genomic View for ZEB2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ZEB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZEB2 Gene

Regulatory Elements 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; 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

Proteomics data for ZEB2 Gene at MOPED

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.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys632

No data available for DME Specific Peptides for ZEB2 Gene

Domains for ZEB2 Gene

Gene Families for ZEB2 Gene

HGNC:
  • ZNF :Zinc fingers, C2H2-type
  • ZFHX :Homeoboxes / ZF class

Suggested Antigen Peptide Sequences for ZEB2 Gene

Graphical View of Domain Structure for InterPro Entry

O60315

UniProtKB/Swiss-Prot:

ZEB2_HUMAN
Domain:
  • Contains 1 homeobox DNA-binding domain.:
    • O60315
Family:
  • Belongs to the delta-EF1/ZFH-1 C2H2-type zinc-finger family.:
    • O60315
Similarity:
  • Contains 7 C2H2-type zinc fingers.:
    • O60315
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:0003676 nucleic acid binding --
GO:0003677 DNA binding IEA --
GO:0019208 phosphatase regulator activity NAS 11477103
GO:0046872 metal ion binding IEA --
GO:0070412 R-SMAD binding IEA --
genes like me logo Genes that share ontologies with ZEB2: view
genes like me logo Genes that share phenotypes with ZEB2: view

Animal Models for ZEB2 Gene

MGI Knock Outs for ZEB2:

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

Localization for ZEB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZEB2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ZEB2 Gene COMPARTMENTS Subcellular localization image for ZEB2 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2
extracellular 1

Gene Ontology (GO) - Cellular Components for ZEB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 24769727
genes like me logo Genes that share ontologies with ZEB2: view

Pathways for ZEB2 Gene

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

Pathways by source 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

Compounds for ZEB2 Gene

(1) Novoseek inferred chemical compound relationships for ZEB2 Gene

Compound -log(P) Hits PubMed IDs
zinc 50.4 14
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:

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 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) (5.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ZEB2 Gene

SOURCE GeneReport for Unigene cluster for ZEB2 Gene Hs.34871

genes like me logo Genes that share expressions 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
chimpanzee
(Pan troglodytes)
Mammalia ZEB2 35
  • 99.81 (n)
  • 99.92 (a)
ZEB2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ZEB2 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ZEB2 35
  • 93.95 (n)
  • 96.56 (a)
ZEB2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Zeb2 35
  • 93.05 (n)
  • 96.71 (a)
Zeb2 16
Zeb2 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ZEB2 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ZEB2 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Zeb2 35
  • 92.78 (n)
  • 97.03 (a)
chicken
(Gallus gallus)
Aves ZEB2 35
  • 89.27 (n)
  • 94.31 (a)
ZEB2 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ZEB2 36
  • 92 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.958 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11141 35
zeb2 35
  • 82.2 (n)
  • 87.27 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5569 35
zebrafish
(Danio rerio)
Actinopterygii zeb2a 36
  • 58 (a)
OneToMany
zeb2b 35
  • 70.76 (n)
  • 73.33 (a)
zeb2b 36
  • 69 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F58G1.2 36
  • 19 (a)
ManyToMany
tra-4 36
  • 15 (a)
ManyToMany
Species with no ortholog for ZEB2:
  • 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

Paralogs for ZEB2 Gene

Pseudogenes.org 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 Sequence Context AA Info Type MAF
rs731108 -- 144,456,071(-) GGCAG(C/G)CTTCT intron-variant
rs749233 -- 144,473,990(-) TATAA(A/G)CTCTG intron-variant
rs749234 -- 144,473,782(-) CACCA(C/T)GACTT intron-variant
rs890582 -- 144,473,953(-) ACCGG(A/G)TGAAT intron-variant
rs890583 -- 144,473,350(-) TGACA(C/T)TGGCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv875261 CNV Loss 21882294
nsv215339 CNV Loss 16902084
esv1694349 CNV Deletion 17803354

Relevant External Links for ZEB2 Gene

HapMap Linkage Disequilibrium report
ZEB2
Human Gene Mutation Database (HGMD)
ZEB2

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

Disorders for ZEB2 Gene

(1) OMIM Diseases for ZEB2 Gene (605802)

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.

(5) University of Copenhagen DISEASES for ZEB2 Gene

(20) Novoseek inferred disease relationships for ZEB2 Gene

Disease -log(P) Hits PubMed IDs
hirschsprung disease 89.1 16
microcephaly 77.6 1
anomaly congenital multiple 71.5 3
genitourinary anomaly 69.6 1
mental retardation 68.4 8

Relevant External Links for ZEB2

GeneTests
ZEB2
GeneReviews
ZEB2
Genetic Association Database (GAD)
ZEB2
Human Genome Epidemiology (HuGE) Navigator
ZEB2
genes like me logo Genes that share disorders with ZEB2: view

Publications for ZEB2 Gene

  1. 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 23
  2. 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 23
  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 23
  4. 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 23
  5. 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 23

Products for ZEB2 Gene

  • Addgene plasmids for ZEB2

Sources for ZEB2 Gene

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