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

Gene ID: 2624, updated on 17-Jan-2022

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
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Genomic context

See GATA2 in Genome Data Viewer
Location:
3q21.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20211119 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

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

EBI GWAS Catalog

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

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 miRNA transcription IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of miRNA transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of miRNA transcription IGI
Inferred from Genetic Interaction
more info
PubMed 
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 transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
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 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 109.20211119

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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