Version: 8.0.0
Date: Tue Jan 28 2025
GATA2
Homo sapiensHGNC:4171
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

GATA2

Species
Homo sapiens
Symbol
GATA2
Name
GATA binding protein 2
Synonyms
  • DCML
  • endothelial transcription factor GATA-2
Biotype
protein coding gene
Automated Description
Enables several functions, including C2H2 zinc finger domain binding activity; DNA-binding transcription factor activity, RNA polymerase II-specific; and transcription coregulator binding activity. Involved in several processes, including negative regulation of endothelial cell apoptotic process; positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis; and regulation of gene expression. Acts upstream of or within negative regulation of Notch signaling pathway; negative regulation of neural precursor cell proliferation; and positive regulation of angiogenesis. Located in cytoplasm and nucleoplasm. Implicated in acute myeloid leukemia; depressive disorder; immunodeficiency 21; myelodysplastic syndrome; and myeloid leukemia. Biomarker of aplastic anemia; clear cell renal cell carcinoma; hematologic cancer (multiple); immunodeficiency 21; and pre-eclampsia.
RGD Description
This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10071
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
      Has Disease Annotations
      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          GATA2 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            GATA2 role
            GATA2 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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