Human Gene ZEB2 (ENST00000627532.3)
  Description: Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA. (from RefSeq NM_014795)
RefSeq Summary (NM_014795): 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].
Gencode Transcript: ENST00000627532.3
Gencode Gene: ENSG00000169554.22
Transcript (Including UTRs)
   Position: hg38 chr2:144,384,081-144,520,119 Size: 136,039 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg38 chr2:144,389,451-144,517,350 Size: 127,900 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesGeneReviewsMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:144,384,081-144,520,119)mRNA (may differ from genome)Protein (1214 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ZEB2_HUMAN
DESCRIPTION: RecName: Full=Zinc finger E-box-binding homeobox 2; AltName: Full=Smad-interacting protein 1; Short=SMADIP1; AltName: Full=Zinc finger homeobox protein 1b;
FUNCTION: Transcriptional inhibitor that binds to DNA sequence 5'- CACCT-3' in different promoters. Represses transcription of E- cadherin.
SUBUNIT: Binds activated SMAD1, activated SMAD2 and activated SMAD3; binding with SMAD4 is not detected (By similarity). Interacts with CBX4 and CTBP1.
SUBCELLULAR LOCATION: Nucleus.
PTM: 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: Defects in ZEB2 are the cause of Mowat-Wilson syndrome (MWIS) [MIM:235730]; also known as Hirschsprung disease-mental retardation syndrome. 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. Some patients manifest Hirschsprung disease. 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.
SIMILARITY: Belongs to the delta-EF1/ZFH-1 C2H2-type zinc-finger family.
SIMILARITY: Contains 7 C2H2-type zinc fingers.
SIMILARITY: Contains 1 homeobox DNA-binding domain.
SEQUENCE CAUTION: Sequence=BAA25495.2; Type=Erroneous initiation;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ZEB2";

-  MalaCards Disease Associations
  MalaCards Gene Search: ZEB2
Diseases sorted by gene-association score: mowat-wilson syndrome* (1362), mowat-wilson syndrome due to a zeb2 point mutation* (350), mowat-wilson syndrome due to monosomy 2q22* (25), hypospadias (10), hirschsprung disease 1 (8), colonic disease (6), megacolon (5), microcephaly (5), mental retardation and microcephaly with pontine and cerebellar hypoplasia (4), colorectal cancer (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 36.35 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 426.53 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -62.20250-0.249 Picture PostScript Text
3' UTR -1240.805370-0.231 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001356 - Homeodomain
IPR009057 - Homeodomain-like
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00096 - Zinc finger, C2H2 type

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2DA7
- NMR MuPIT


ModBase Predicted Comparative 3D Structure on O60315
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001205 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0019208 phosphatase regulator activity
GO:0043565 sequence-specific DNA binding
GO:0046872 metal ion binding
GO:0070412 R-SMAD binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001755 neural crest cell migration
GO:0001756 somitogenesis
GO:0001843 neural tube closure
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007399 nervous system development
GO:0007417 central nervous system development
GO:0021540 corpus callosum morphogenesis
GO:0021766 hippocampus development
GO:0021846 cell proliferation in forebrain
GO:0021957 corticospinal tract morphogenesis
GO:0030177 positive regulation of Wnt signaling pathway
GO:0043507 positive regulation of JUN kinase activity
GO:0045636 positive regulation of melanocyte differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048023 positive regulation of melanin biosynthetic process
GO:0048066 developmental pigmentation
GO:0048598 embryonic morphogenesis
GO:0048668 collateral sprouting
GO:0050772 positive regulation of axonogenesis
GO:0061373 mammillary axonal complex development
GO:0097324 melanocyte migration
GO:1902748 positive regulation of lens fiber cell differentiation
GO:1903056 regulation of melanosome organization

Cellular Component:
GO:0000790 nuclear chromatin
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  BC037975 - Homo sapiens zinc finger E-box binding homeobox 2, mRNA (cDNA clone IMAGE:5214927), with apparent retained intron.
AB011141 - Homo sapiens KIAA0569 mRNA for KIAA0569 protein.
AB056507 - Homo sapiens ZFHX1B mRNA for Smad interacting protein 1, complete cds.
AK294928 - Homo sapiens cDNA FLJ55880 complete cds, highly similar to Zinc finger homeobox protein 1b.
BC127102 - Homo sapiens zinc finger E-box binding homeobox 2, mRNA (cDNA clone MGC:150662 IMAGE:40124124), complete cds.
BC127101 - Homo sapiens zinc finger E-box binding homeobox 2, mRNA (cDNA clone MGC:150661 IMAGE:40124119), complete cds.
AB193095 - Homo sapiens ZFHX1B mRNA for Smad interacting-protein 1, complete cds, AluYa5 insertion.
AB193096 - Homo sapiens ZFHX1B mRNA for Smad interacting-protein 1, complete cds, mutation 1395del14ins19 (465fs467X).
AB463360 - Synthetic construct DNA, clone: pF1KA0569, Homo sapiens ZEB2 gene for zinc finger E-box binding homeobox 2, without stop codon, in Flexi system.
AK308445 - Homo sapiens cDNA, FLJ98393.
AK308124 - Homo sapiens cDNA, FLJ98072.
BC060819 - Homo sapiens zinc finger E-box binding homeobox 2, mRNA (cDNA clone IMAGE:30336427), with apparent retained intron.
AF085983 - Homo sapiens full length insert cDNA clone YT94E02.
JD296597 - Sequence 277621 from Patent EP1572962.
JD111993 - Sequence 93017 from Patent EP1572962.
JD490823 - Sequence 471847 from Patent EP1572962.
AB015341 - Homo sapiens HRIHFB2411 mRNA, partial cds.
JD471036 - Sequence 452060 from Patent EP1572962.
JD211569 - Sequence 192593 from Patent EP1572962.
JD437950 - Sequence 418974 from Patent EP1572962.
JD466939 - Sequence 447963 from Patent EP1572962.
JD138781 - Sequence 119805 from Patent EP1572962.
BC070275 - Homo sapiens cDNA clone IMAGE:30414064, partial cds.
BC035706 - Homo sapiens zinc finger homeobox 1b, mRNA (cDNA clone IMAGE:5575905), partial cds.
BC025696 - Homo sapiens zinc finger E-box binding homeobox 2, mRNA (cDNA clone IMAGE:5209578), with apparent retained intron.
BC025730 - Homo sapiens zinc finger E-box binding homeobox 2, mRNA (cDNA clone IMAGE:5203120), with apparent retained intron.
LF212885 - JP 2014500723-A/20388: Polycomb-Associated Non-Coding RNAs.
MA448462 - JP 2018138019-A/20388: Polycomb-Associated Non-Coding RNAs.
JD120259 - Sequence 101283 from Patent EP1572962.
JD516511 - Sequence 497535 from Patent EP1572962.
JD556643 - Sequence 537667 from Patent EP1572962.
DL491280 - Novel nucleic acids.
DL489920 - Novel nucleic acids.

-  Other Names for This Gene
  Alternate Gene Symbols: A0JP09, ENST00000627532.1, ENST00000627532.2, HRIHFB2411, KIAA0569, NM_014795, O60315, Q9UED1, SIP1, uc002tvu.1, uc002tvu.2, uc002tvu.3, uc002tvu.4, uc002tvu.5, ZEB2_HUMAN, ZFHX1B, ZFX1B
UCSC ID: ENST00000627532.3
RefSeq Accession: NM_014795
Protein: O60315 (aka ZEB2_HUMAN)
CCDS: CCDS2186.1, CCDS54403.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ZEB2:
mws (Mowat-Wilson Syndrome)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.