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

    Gene ID: 2624, updated on 22-Apr-2017
    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; Vega:OTTHUMG00000159689
    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]
    Orthologs
    Location:
    3q21.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (128479422..128493187, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (128198265..128212030, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene RuvB like AAA ATPase 1 Neighboring gene eukaryotic elongation factor, selenocysteine-tRNA specific Neighboring gene DNAJB8 antisense RNA 1 Neighboring gene DnaJ heat shock protein family (Hsp40) member B8 Neighboring gene GATA2 antisense RNA 1 Neighboring gene uncharacterized LOC90246 Neighboring gene transmembrane p24 trafficking protein 10 pseudogene 2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
    MedGen: C3280030 OMIM: 614172 GeneReviews: Not available
    Compare labs
    Lymphedema, primary, with myelodysplasia
    MedGen: C3279664 OMIM: 614038 GeneReviews: Not available
    Compare labs
    Myelodysplastic syndrome
    MedGen: C0026986 OMIM: 614286 GeneReviews: Not available
    Compare labs

    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

    NHGRI GWAS Catalog

    Description
    Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.
    NHGRI GWA Catalog
    Multiple loci are associated with white blood cell phenotypes.
    NHGRI GWA Catalog
    Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.
    NHGRI GWA Catalog

    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

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC2306, FLJ45948

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    GABAergic neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    cell differentiation in hindbrain IEA
    Inferred from Electronic Annotation
    more info
     
    cell fate determination IEA
    Inferred from Electronic Annotation
    more info
     
    cell maturation IEA
    Inferred from Electronic Annotation
    more info
     
    central nervous system neuron development IEA
    Inferred from Electronic Annotation
    more info
     
    cochlea development IEA
    Inferred from Electronic Annotation
    more info
     
    commitment of neuronal cell to specific neuron type in forebrain IEA
    Inferred from Electronic Annotation
    more info
     
    definitive hemopoiesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic placenta development IEA
    Inferred from Electronic Annotation
    more info
     
    eosinophil fate commitment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    homeostasis of number of cells within a tissue IEA
    Inferred from Electronic Annotation
    more info
     
    inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of Notch signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of fat cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of fat cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of macrophage differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neural precursor cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    phagocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    pituitary gland development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of angiogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cytosolic calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of erythrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of mast cell degranulation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of megakaryocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of phagocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of phagocytosis, engulfment IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of forebrain neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of histone acetylation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of primitive erythrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    response to lipid IEA
    Inferred from Electronic Annotation
    more info
     
    semicircular canal development IEA
    Inferred from Electronic Annotation
    more info
     
    somatic stem cell population maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    urogenital system development IEA
    Inferred from Electronic Annotation
    more info
     
    ventral spinal cord interneuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transcription factor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    endothelial transcription factor GATA-2

    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_001145661.1NP_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, OTTHUMP00000216239, ENST00000487848.5, OTTHUMT00000356926
      Conserved Domains (2) summary
      smart00401
      Location:344393
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      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, OTTHUMP00000216240, ENST00000430265.6, OTTHUMT00000356927
      Conserved Domains (2) summary
      smart00401
      Location:290336
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      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_032638.4NP_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, AI524325, BC002557, BC051342
      Consensus CDS
      CCDS3049.1
      UniProtKB/Swiss-Prot
      P23769
      Related
      ENSP00000345681.2, OTTHUMP00000216238, ENST00000341105.6, OTTHUMT00000356925
      Conserved Domains (2) summary
      smart00401
      Location:344393
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      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 Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      128479422..128493187 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      128161207..128175078 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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