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

Gene ID: 2624, updated on 7-Dec-2014
Official Symbol
GATA2provided by HGNC
Official Full Name
GATA binding protein 2provided by HGNC
Primary source
HGNC:HGNC:4171
See related
Ensembl:ENSG00000179348; HPRD:00673; 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]
See GATA2 in Epigenomics, MapViewer
Location:
3q21.3
Exon count:
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 (Hsp40) homolog, subfamily B, member 8 Neighboring gene GATA2 antisense RNA 1 Neighboring gene uncharacterized LOC90246 Neighboring gene transmembrane emp24-like trafficking protein 10 (yeast) pseudogene 2

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 (2014-10-10)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2014-10-10)

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
 
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
 
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 erythrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of megakaryocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of phagocytosis ISS
Inferred from Sequence or Structural Similarity
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
 
semicircular canal development IEA
Inferred from Electronic Annotation
more info
 
somatic stem cell maintenance 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
 
protein complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
endothelial transcription factor GATA-2
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 

    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 proteins identical to 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
    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 proteins identical to 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
    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_032638.4NP_116027.2  endothelial transcription factor GATA-2 isoform 1

    See proteins identical to 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, OTTHUMP00000216238, ENST00000341105, OTTHUMT00000356925
    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 Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12 

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

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 

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

Alternate HuRef

Genomic

  1. AC_000135.1 

    Range
    125582307..125596070
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)