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Aliases for GATA2 Gene

Aliases for GATA2 Gene

  • GATA Binding Protein 2 2 3 5
  • GATA-Binding Protein 2 2 4
  • Endothelial Transcription Factor GATA-2 3
  • MONOMAC 3
  • IMD21 3
  • NFE1B 3
  • DCML 3

External Ids for GATA2 Gene

Previous GeneCards Identifiers for GATA2 Gene

  • GC03U990039
  • GC03M129481
  • GC03M129519
  • GC03M129680
  • GC03M128198
  • GC03M125582

Summaries for GATA2 Gene

Entrez Gene Summary for GATA2 Gene

  • 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]

GeneCards Summary for GATA2 Gene

GATA2 (GATA Binding Protein 2) is a Protein Coding gene. Diseases associated with GATA2 include Immunodeficiency 21 and Emberger Syndrome. Among its related pathways are DREAM Repression and Dynorphin Expression and Factors involved in megakaryocyte development and platelet production. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is GATA3.

UniProtKB/Swiss-Prot for GATA2 Gene

  • Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to the consensus sequence 5-AGATAG-3.

Gene Wiki entry for GATA2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GATA2 Gene

Genomics for GATA2 Gene

Regulatory Elements for GATA2 Gene

Enhancers for GATA2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F128407 1.7 FANTOM5 Ensembl ENCODE 27.5 +80.1 80060 10.7 HDGF PKNOX1 ARNT CREB3L1 FOS DEK JUNB REST SMARCB1 MEF2D GATA2 DNAJB8 H1FX-AS1 DNAJB8-AS1 RPL32P3 EEFSEC LINC01565 GC03M128409 GC03P128380
GH03F128079 1.5 FANTOM5 Ensembl ENCODE 22.7 +412.4 412375 3.5 SIN3A THRB RAD21 RARA YY1 ZNF366 FOS USF2 MEF2D TFDP1 GATA2 SEC61A1 EEFSEC DNAJB8 RUVBL1-AS1 PIR39032
GH03F128496 1.5 FANTOM5 Ensembl ENCODE 17.8 -4.1 -4074 2.2 TBP HDGF HDAC1 TBL1XR1 SIN3A BMI1 ZNF48 RAD21 YY1 GATA2 DNAJB8 GATA2 DNAJB8-AS1 RUVBL1 LINC01565 GATA2-AS1 TMED10P2 ABTB1 EEFSEC LOC90246
GH03F128585 0.7 FANTOM5 31.7 -92.2 -92213 0.4 ARID1B NCOR1 ZBTB11 IKZF1 HMBOX1 CREM ZBTB7A MGA GATA2 DNAJB8 DNAJB8-AS1 RNU6-823P EEFSEC LINC01565 GC03P128663
GH03F128590 1.4 FANTOM5 Ensembl ENCODE 15.7 -98.8 -98811 2.0 CTCF ARID4B MAX RAD21 HBP1 ZNF7 TEAD3 NR2F6 HOMEZ MIXL1 GATA2 DNAJB8 DNAJB8-AS1 RNU6-823P RPN1 H1FX-AS1 RAB7A LINC01565 GC03P128663
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GATA2 on UCSC Golden Path with GeneCards custom track

Promoters for GATA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001852132 387 401 TBP CTCF RNF2 SUZ12 SMAD5 CBX2 ZNF48 RAD21 POLR2A MYC

Genomic Location for GATA2 Gene

Chromosome:
3
Start:
128,479,422 bp from pter
End:
128,493,187 bp from pter
Size:
13,766 bases
Orientation:
Minus strand

Genomic View for GATA2 Gene

Genes around GATA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GATA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GATA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GATA2 Gene

Proteins for GATA2 Gene

  • Protein details for GATA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23769-GATA2_HUMAN
    Recommended name:
    Endothelial transcription factor GATA-2
    Protein Accession:
    P23769
    Secondary Accessions:
    • D3DNB3
    • Q53YE0
    • Q96BH0
    • Q96BH8
    • Q9BUJ6

    Protein attributes for GATA2 Gene

    Size:
    480 amino acids
    Molecular mass:
    50500 Da
    Quaternary structure:
    • Interacts with BRD3 (By similarity). Interacts with AR and CCAR1.
    SequenceCaution:
    • Sequence=AAA35869.1; Type=Miscellaneous discrepancy; Note=Several sequencing errors.; Evidence={ECO:0000305};

    Alternative splice isoforms for GATA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GATA2 Gene

Post-translational modifications for GATA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GATA2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GATA2 (GATA2)
  • Cloud-Clone Corp. Antibodies for GATA2

No data available for DME Specific Peptides for GATA2 Gene

Domains & Families for GATA2 Gene

Gene Families for GATA2 Gene

Protein Domains for GATA2 Gene

Suggested Antigen Peptide Sequences for GATA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P23769

UniProtKB/Swiss-Prot:

GATA2_HUMAN :
  • Contains 2 GATA-type zinc fingers.
Similarity:
  • Contains 2 GATA-type zinc fingers.
genes like me logo Genes that share domains with GATA2: view

Function for GATA2 Gene

Molecular function for GATA2 Gene

GENATLAS Biochemistry:
endothelial cell transcription factor,GATA sequence binding protein,expressed in immature RBC,mast cell,megakaryocyte,hematopoietic progenitor cell,endothelial cell,embryonic brain,associated with a special class of nuclear bodies. Regulating endothelin 1 (EDN1) expression. Activated by calcineurin (IGF1 induced) to promote myocyte hypertrophy
UniProtKB/Swiss-Prot Function:
Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to the consensus sequence 5-AGATAG-3.

Gene Ontology (GO) - Molecular Function for GATA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA --
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IEA --
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IEA --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0001085 RNA polymerase II transcription factor binding IBA --
genes like me logo Genes that share ontologies with GATA2: view
genes like me logo Genes that share phenotypes with GATA2: view

Human Phenotype Ontology for GATA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GATA2 Gene

MGI Knock Outs for GATA2:

Animal Model Products

miRNA for GATA2 Gene

miRTarBase miRNAs that target GATA2
Targeted motifs for GATA2 Gene
HOMER Transcription Factor Regulatory Elements motif GATA2
  • Consensus sequence: NCCTTATCTC Submotif: canonical Cell Type: K562 GEO ID: GSE18829

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for GATA2 Gene

Localization for GATA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GATA2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GATA2 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 1
extracellular 1

Gene Ontology (GO) - Cellular Components for GATA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0005667 transcription factor complex IBA --
GO:0043234 protein complex IEA --
genes like me logo Genes that share ontologies with GATA2: view

Pathways & Interactions for GATA2 Gene

genes like me logo Genes that share pathways with GATA2: view

SIGNOR curated interactions for GATA2 Gene

Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for GATA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001655 urogenital system development IEA --
GO:0001709 cell fate determination IEA --
GO:0001764 neuron migration IEA --
GO:0001892 embryonic placenta development IEA --
genes like me logo Genes that share ontologies with GATA2: view

Drugs & Compounds for GATA2 Gene

(12) Drugs for GATA2 Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fludarabine Approved Pharma DNA synthsis inhibitor 1113,1113
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 2829
Alkylating Agents Pharma 4694
Antilymphocyte Serum Pharma 399
Antineoplastic Agents, Alkylating Pharma 4474

(8) Additional Compounds for GATA2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GATA2: view

Transcripts for GATA2 Gene

Unigene Clusters for GATA2 Gene

GATA binding protein 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GATA2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b
SP1: - - - - -
SP2: - - -
SP3: - -
SP4:
SP5: -
SP6:

Relevant External Links for GATA2 Gene

GeneLoc Exon Structure for
GATA2
ECgene alternative splicing isoforms for
GATA2

Expression for GATA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GATA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GATA2 Gene

This gene is overexpressed in Fallopian Tube (x5.1), Prostate (x4.3), Bladder (x4.2), and Uterus (x4.1).

Protein differential expression in normal tissues from HIPED for GATA2 Gene

This gene is overexpressed in Platelet (46.8) and Placenta (22.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GATA2 Gene



Protein tissue co-expression partners for GATA2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GATA2 Gene:

GATA2

SOURCE GeneReport for Unigene cluster for GATA2 Gene:

Hs.367725

mRNA Expression by UniProt/SwissProt for GATA2 Gene:

P23769-GATA2_HUMAN
Tissue specificity: Endothelial cells.
genes like me logo Genes that share expression patterns with GATA2: view

Primer Products

Orthologs for GATA2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GATA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GATA2 34 35
  • 99.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GATA2 35
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GATA2 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GATA2 34 35
  • 92.5 (n)
rat
(Rattus norvegicus)
Mammalia Gata2 34
  • 90.56 (n)
mouse
(Mus musculus)
Mammalia Gata2 34 16 35
  • 90.07 (n)
cow
(Bos Taurus)
Mammalia GATA2 34 35
  • 89.35 (n)
chicken
(Gallus gallus)
Aves GATA2 34 35
  • 78.76 (n)
lizard
(Anolis carolinensis)
Reptilia GATA2 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487142 34
  • 77.31 (n)
Str.17047 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.792 34
zebrafish
(Danio rerio)
Actinopterygii gata2a 34 35
  • 72.5 (n)
gata2b 35
  • 60 (a)
OneToMany
gata2 34
fruit fly
(Drosophila melanogaster)
Insecta grn 36 35
  • 84 (a)
pnr 36
  • 64 (a)
worm
(Caenorhabditis elegans)
Secernentea elt-1 36 35
  • 67 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DAL80 35
  • 17 (a)
ManyToMany
GAT1 35
  • 15 (a)
ManyToMany
GLN3 35
  • 13 (a)
ManyToMany
GZF3 35
  • 13 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 38 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9192 34
Species where no ortholog for GATA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GATA2 Gene

ENSEMBL:
Gene Tree for GATA2 (if available)
TreeFam:
Gene Tree for GATA2 (if available)

Paralogs for GATA2 Gene

Paralogs for GATA2 Gene

(5) SIMAP similar genes for GATA2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GATA2: view

Variants for GATA2 Gene

Sequence variations from dbSNP and Humsavar for GATA2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs387906629 Immunodeficiency 21 (IMD21) [MIM:614172], Pathogenic 128,481,270(-) GGAAC(C/T)GGAAG reference, missense
rs387906630 Immunodeficiency 21 (IMD21) [MIM:614172], Pathogenic 128,485,837(-) TGTGC(C/T)GGCGG reference, missense
rs387906631 Immunodeficiency 21 (IMD21) [MIM:614172], Myelodysplastic syndrome (MDS) [MIM:614286], Pathogenic 128,481,901(-) TCAGA(C/T)GACAA reference, missense
rs387906633 Lymphedema, primary, with myelodysplasia (LMPM) [MIM:614038], Pathogenic 128,481,845(-) ACGCC(C/T)GTGGC reference, missense
VAR_066644 Lymphedema, primary, with myelodysplasia (LMPM) [MIM:614038]

Structural Variations from Database of Genomic Variants (DGV) for GATA2 Gene

Variant ID Type Subtype PubMed ID
nsv516926 CNV loss 19592680
nsv508241 CNV deletion 20534489
nsv508240 CNV deletion 20534489
nsv10318 CNV gain 18304495
esv2759176 CNV loss 17122850
esv2657669 CNV deletion 23128226

Variation tolerance for GATA2 Gene

Residual Variation Intolerance Score: 18.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.76; 86.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GATA2 Gene

Human Gene Mutation Database (HGMD)
GATA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GATA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GATA2 Gene

Disorders for GATA2 Gene

MalaCards: The human disease database

(20) MalaCards diseases for GATA2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 21
  • dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency
emberger syndrome
  • lymphedema, primary, with myelodysplasia
myelodysplastic syndrome
  • myelodysplastic syndrome, somatic
leukemia, acute myeloid
  • leukemia, acute myeloid, somatic
deafness-lymphedema-leukemia syndrome
  • emberger syndrome
- elite association - COSMIC cancer census association via MalaCards
Search GATA2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GATA2_HUMAN
  • Immunodeficiency 21 (IMD21) [MIM:614172]: An immunodeficiency disease characterized by profoundly decreased or absent monocytes, B-lymphocytes, natural killer lymphocytes, and circulating and tissue dendritic cells, with little or no effect on T-cell numbers. Clinical features of DCML include susceptibility to disseminated non-tuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis. Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most patients, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. This syndrome links susceptibility to mycobacterial, viral, and fungal infections with malignancy and can be transmitted in an autosomal dominant pattern. {ECO:0000269 PubMed:21670465}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Lymphedema, primary, with myelodysplasia (LMPM) [MIM:614038]: A chronic disabling condition characterized by swelling of the extremities due to altered lymphatic flow, associated with myelodysplasia. Patients with lymphedema suffer from recurrent local infections, and physical impairment. {ECO:0000269 PubMed:21892158}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myelodysplastic syndrome (MDS) [MIM:614286]: A heterogeneous group of closely related clonal hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral blood cytopenias resulting from ineffective blood cell production. Included diseases are: refractory anemia (RA), refractory anemia with ringed sideroblasts (RARS), refractory anemia with excess blasts (RAEB), refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative disease. MDS is considered a premalignant condition in a subgroup of patients that often progresses to acute myeloid leukemia (AML). {ECO:0000269 PubMed:21892162}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GATA2

Genetic Association Database (GAD)
GATA2
Human Genome Epidemiology (HuGE) Navigator
GATA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GATA2
genes like me logo Genes that share disorders with GATA2: view

No data available for Genatlas for GATA2 Gene

Publications for GATA2 Gene

  1. Cloning of the GATA-binding protein that regulates endothelin-1 gene expression in endothelial cells. (PMID: 1714909) Lee M.-E. … Quertermous T. (J. Biol. Chem. 1991) 2 3 4 22 64
  2. Association study of GATA-2 transcription factor gene (GATA2) polymorphism and Parkinson's disease. (PMID: 19864173) Kurzawski M. … DroA_dzik M. (Parkinsonism Relat. Disord. 2010) 3 22 46 64
  3. Human transcription factor GATA-2. Evidence for regulation of preproendothelin-1 gene expression in endothelial cells. (PMID: 1370462) Dorfman D.M. … Orkin S.H. (J. Biol. Chem. 1992) 3 4 22 64
  4. CCAR1 promotes chromatin loading of androgen receptor (AR) transcription complex by stabilizing the association between AR and GATA2. (PMID: 23887938) Seo W.Y. … Kim J.H. (Nucleic Acids Res. 2013) 3 4 64
  5. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. (PMID: 21670465) Hsu A.P. … Holland S.M. (Blood 2011) 3 4 64

Products for GATA2 Gene

Sources for GATA2 Gene

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