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    ZEB2 zinc finger E-box binding homeobox 2 [ Homo sapiens (human) ]

    Gene ID: 9839, updated on 14-Aug-2016
    Official Symbol
    ZEB2provided by HGNC
    Official Full Name
    zinc finger E-box binding homeobox 2provided by HGNC
    Primary source
    HGNC:HGNC:14881
    See related
    Ensembl:ENSG00000169554 HPRD:05780; MIM:605802; Vega:OTTHUMG00000187624
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SIP1; SIP-1; ZFHX1B; HSPC082; SMADIP1
    Summary
    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]
    Orthologs
    Location:
    2q22.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (144384375..144520391, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (145141942..145277958, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Rho GTPase activating protein 15 Neighboring gene uncharacterized LOC105373654 Neighboring gene uncharacterized LOC101928386 Neighboring gene glycosyltransferase like domain containing 1 Neighboring gene uncharacterized LOC105373656 Neighboring gene long intergenic non-protein coding RNA 1412 Neighboring gene ZEB2 antisense RNA 1 Neighboring gene testis expressed 41 (non-protein coding) Neighboring gene sarcoglycan epsilon pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Mowat-Wilson syndrome
    MedGen: C1856113 OMIM: 235730 GeneReviews: Mowat-Wilson Syndrome
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2011-10-06)

    ClinGen Genome Curation PagePubMed
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2011-10-06)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Common variation at 2q22.3 (ZEB2) influences the risk of renal cancer.
    NHGRI GWA Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    NHGRI GWA Catalog
    Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
    NHGRI GWA Catalog
    Genome-wide association study identifies ZFHX1B as a susceptibility locus for severe myopia.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    • MicroRNAs in cancer, organism-specific biosystem (from KEGG)
      MicroRNAs in cancer, organism-specific biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
    • MicroRNAs in cancer, conserved biosystem (from KEGG)
      MicroRNAs in cancer, conserved biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
    • TGF Beta Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TGF Beta Signaling Pathway, organism-specific biosystemThe Transforming growth factor beta (TGFβ) signaling pathway is involved in many cellular processes in both the adult organism and the developing embryo including cell growth, cell differentiat...
    • TGF-beta Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TGF-beta Receptor Signaling Pathway, organism-specific biosystem"The TGF beta receptors TGFBR1 and TGFBR2 belong to a subfamily of membrane-bound serine/threonine kinases which are designated as Type I or II based on their structural and functional properties. Th...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ42816, KIAA0569

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    R-SMAD binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatase regulator activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    cell proliferation in forebrain IEA
    Inferred from Electronic Annotation
    more info
     
    collateral sprouting IEA
    Inferred from Electronic Annotation
    more info
     
    corpus callosum morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    corticospinal tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    developmental pigmentation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    hippocampus development IEA
    Inferred from Electronic Annotation
    more info
     
    mammillary axonal complex development IEA
    Inferred from Electronic Annotation
    more info
     
    melanocyte migration ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nervous system development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    neural crest cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    neural tube closure IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of JUN kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of axonogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of lens fiber cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of melanin biosynthetic process IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of melanocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of melanosome organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    zinc finger E-box-binding homeobox 2
    Names
    SMAD interacting protein 1
    Smad-interacting protein 1
    zinc finger homeobox 1b

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016431.1 RefSeqGene

      Range
      5001..141017
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001171653.1NP_001165124.1  zinc finger E-box-binding homeobox 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is missing an in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) lacking an internal protein segment compared to isoform 1.
      Source sequence(s)
      AB056507, AC010130, AI341193, AK294928, BP218652, DA305985
      Consensus CDS
      CCDS54403.1
      UniProtKB/Swiss-Prot
      O60315
      Related
      ENSP00000443792, OTTHUMP00000204550, ENST00000539609, OTTHUMT00000332807
      Conserved Domains (6) summary
      COG5048
      Location:10001101
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5576
      Location:570702
      COG5576; Homeodomain-containing transcription factor [Transcription]
      cd00086
      Location:629671
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      sd00017
      Location:977997
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:258280
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:272295
      zf-H2C2_2; Zinc-finger double domain
    2. NM_014795.3NP_055610.1  zinc finger E-box-binding homeobox 2 isoform 1

      See identical proteins and their annotated locations for NP_055610.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AB056507, AC010130, AI341193, BP218652, DA305985
      Consensus CDS
      CCDS2186.1
      UniProtKB/Swiss-Prot
      O60315
      Related
      ENSP00000487174, OTTHUMP00000162653, ENST00000627532, OTTHUMT00000254778
      Conserved Domains (6) summary
      COG5048
      Location:10241125
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5576
      Location:594726
      COG5576; Homeodomain-containing transcription factor [Transcription]
      cd00086
      Location:653695
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      sd00017
      Location:10011021
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:282304
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:296319
      zf-H2C2_2; Zinc-finger double domain

    RNA

    1. NR_033258.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) is missing many exons from the 3' end and contains an alternate 3' terminal exon compared to variant 1. It is represented as non-coding because it has transcript support but lacks a large portion of the coding region.
      Source sequence(s)
      BC025696, BC025730, BP218652, BU688017
      Related
      ENST00000465070, OTTHUMT00000332787

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      144384375..144520391 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512232.2XP_011510534.1  

      Conserved Domains (6) summary
      COG5048
      Location:10171118
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5576
      Location:587719
      COG5576; Homeodomain-containing transcription factor [Transcription]
      cd00086
      Location:646688
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam00096
      Location:275297
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:289312
      zf-H2C2_2; Zinc-finger double domain
      sd00017
      Location:9941014
      ZF_C2H2; C2H2 Zn finger [structural motif]
    2. XM_006712882.3XP_006712945.1  

      See identical proteins and their annotated locations for XP_006712945.1

      UniProtKB/Swiss-Prot
      O60315
      Conserved Domains (6) summary
      COG5048
      Location:10241125
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5576
      Location:594726
      COG5576; Homeodomain-containing transcription factor [Transcription]
      cd00086
      Location:653695
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      sd00017
      Location:10011021
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:282304
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:296319
      zf-H2C2_2; Zinc-finger double domain
    3. XM_006712881.3XP_006712944.1  

      See identical proteins and their annotated locations for XP_006712944.1

      UniProtKB/Swiss-Prot
      O60315
      Related
      ENSP00000386854, OTTHUMP00000204542, ENST00000409487, OTTHUMT00000332793
      Conserved Domains (6) summary
      COG5048
      Location:10241125
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5576
      Location:594726
      COG5576; Homeodomain-containing transcription factor [Transcription]
      cd00086
      Location:653695
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      sd00017
      Location:10011021
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:282304
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:296319
      zf-H2C2_2; Zinc-finger double domain
    4. XM_017005415.1XP_016860904.1  

      Related
      ENSP00000490673, OTTHUMP00000282727, ENST00000638087, OTTHUMT00000484078
    5. XM_017005414.1XP_016860903.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      145147224..145283048 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)