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    GATA2 GATA binding protein 2 [ Homo sapiens (human) ]

    Gene ID: 2624, updated on 26-Jul-2021

    Summary

    Official Symbol
    GATA2provided by HGNC
    Official Full Name
    GATA binding protein 2provided by HGNC
    Primary source
    HGNC:HGNC:4171
    See related
    Ensembl:ENSG00000179348 MIM:137295
    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
    DCML; IMD21; NFE1B; MONOMAC
    Summary
    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]
    Expression
    Broad expression in prostate (RPKM 28.7), endometrium (RPKM 17.9) and 16 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GATA2 in Genome Data Viewer
    Location:
    3q21.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (128479422..128493201, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (128198265..128212044, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene CRISPRi-FlowFISH-validated RPN1 regulatory element Neighboring gene DNAJB8 antisense RNA 1 Neighboring gene DnaJ heat shock protein family (Hsp40) member B8 Neighboring gene CRISPRi-FlowFISH-validated H1-10 regulatory element Neighboring gene GATA2 antisense RNA 1 Neighboring gene uncharacterized LOC90246 Neighboring gene CRISPRi-FlowFISH-validated RPN1 regulatory element

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Acute myeloid leukemia Compare labs
    Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
    MedGen: C3280030 OMIM: 614172 GeneReviews: Not available
    Compare labs
    Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.
    GeneReviews: Not available
    Lymphedema, primary, with myelodysplasia
    MedGen: C3279664 OMIM: 614038 GeneReviews: Not available
    Compare labs
    Multiple loci are associated with white blood cell phenotypes.
    GeneReviews: Not available
    Myelodysplastic syndrome
    MedGen: C3463824 OMIM: 614286 GeneReviews: Not available
    Compare labs
    Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.
    GeneReviews: Not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2015-06-04)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2015-06-04)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat GATA-2 synergizes with HIV-1 Tat to enhance transcriptional activity from the HIV-1 LTR promoter PubMed
    Vif vif HIV-1 Vif upregulates the expression of GATA binding protein 2 (GATA2) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC2306, FLJ45948

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in GABAergic neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell differentiation in hindbrain IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell fate commitment IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cell fate determination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in central nervous system neuron development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cochlea development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in commitment of neuronal cell to specific neuron type in forebrain IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in definitive hemopoiesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic placenta development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in eosinophil fate commitment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in homeostasis of number of cells within a tissue IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within negative regulation of Notch signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of endothelial cell apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of fat cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of fat cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of macrophage differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within negative regulation of neural precursor cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phagocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pituitary gland development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of angiogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of angiogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of blood vessel endothelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell migration involved in sprouting angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cytosolic calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of erythrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of mast cell degranulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of megakaryocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of phagocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of phagocytosis, engulfment IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of pri-miRNA transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of pri-miRNA transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of pri-miRNA transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of forebrain neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of histone acetylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of primitive erythrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in response to lipid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in semicircular canal development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in somatic stem cell population maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in urogenital system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vascular wound healing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ventral spinal cord interneuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription regulator complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    endothelial transcription factor GATA-2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_029334.1 RefSeqGene

      Range
      5001..18766
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_295

    mRNA and Protein(s)

    1. NM_001145661.2NP_001139133.1  endothelial transcription factor GATA-2 isoform 1

      See identical proteins and their annotated locations for NP_001139133.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AC080005, AI524325, AK314826, BC015613
      Consensus CDS
      CCDS3049.1
      UniProtKB/Swiss-Prot
      P23769
      Related
      ENSP00000417074.1, ENST00000487848.5
      Conserved Domains (1) summary
      cd00202
      Location:349398
      ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C
    2. NM_001145662.1NP_001139134.1  endothelial transcription factor GATA-2 isoform 2

      See identical proteins and their annotated locations for NP_001139134.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate splice site in the CDS but maintains the reading frame, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AI524325, BC015577, BC015613, DA837371
      Consensus CDS
      CCDS46903.1
      UniProtKB/Swiss-Prot
      P23769
      Related
      ENSP00000400259.2, ENST00000430265.6
      Conserved Domains (1) summary
      cd00202
      Location:294336
      ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C
    3. NM_032638.5NP_116027.2  endothelial transcription factor GATA-2 isoform 1

      See identical proteins and their annotated locations for NP_116027.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AC080005, BC002557, BC051342
      Consensus CDS
      CCDS3049.1
      UniProtKB/Swiss-Prot
      P23769
      Related
      ENSP00000345681.2, ENST00000341105.7
      Conserved Domains (1) summary
      cd00202
      Location:349398
      ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      128479422..128493201 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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