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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
  • 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 Myelodysplastic Syndrome. Among its related pathways are Glucose / Energy Metabolism and NF-kappaB Signaling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is GATA5.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around GATA2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the GATA2 gene promoter:

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

Proteomics data for GATA2 Gene at MOPED

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:0000979 RNA polymerase II core promoter sequence-specific DNA binding IEA --
GO:0001158 enhancer sequence-specific DNA binding IDA 19323994
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

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
Jensen Localization Image for GATA2 Gene COMPARTMENTS Subcellular localization image for GATA2 gene
Compartment Confidence
nucleus 5
cytosol 4
lysosome 2
vacuole 2
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for GATA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol 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:0006351 transcription, DNA-templated IDA 16153155
genes like me logo Genes that share ontologies with GATA2: view

Drugs & Compounds for GATA2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 2701
Fludarabine Approved Pharma DNA synthsis inhibitor 1075
Antilymphocyte Serum Pharma 391
Fludarabine phosphate Pharma 1075
Immunologic Factors Pharma 23243

(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:

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 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, MOPED, and MaxQB for GATA2 Gene



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

Protein tissue co-expression partners for GATA2 Gene

- Elite partner

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
cow
(Bos Taurus)
Mammalia GATA2 35
  • 89.35 (n)
  • 95.82 (a)
GATA2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GATA2 35
  • 92.5 (n)
  • 98.54 (a)
GATA2 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gata2 35
  • 90.07 (n)
  • 97.92 (a)
Gata2 16
Gata2 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GATA2 35
  • 99.72 (n)
  • 100 (a)
GATA2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gata2 35
  • 90.56 (n)
  • 97.5 (a)
oppossum
(Monodelphis domestica)
Mammalia GATA2 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GATA2 36
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves GATA2 35
  • 78.76 (n)
  • 87.77 (a)
GATA2 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GATA2 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487142 35
  • 77.31 (n)
  • 86.7 (a)
Str.17047 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.792 35
zebrafish
(Danio rerio)
Actinopterygii gata2 35
gata2a 35
  • 72.5 (n)
  • 75.91 (a)
gata2a 36
  • 75 (a)
OneToMany
gata2b 36
  • 60 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta grn 37
  • 84 (a)
pnr 37
  • 64 (a)
grn 36
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea elt-1 37
  • 67 (a)
elt-1 36
  • 27 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DAL80 36
  • 17 (a)
ManyToMany
GAT1 36
  • 15 (a)
ManyToMany
GLN3 36
  • 13 (a)
ManyToMany
GZF3 36
  • 13 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9192 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
OneToMany
Species with no ortholog for GATA2:
  • 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
rs2335052 - 128,486,108(-) CAGCA(A/G)CCCAC reference, missense
rs35079193 - 128,485,894(-) AGCTA(A/C)TATGG reference, missense
VAR_066405 Immunodeficiency 21 (IMD21)
VAR_066406 Immunodeficiency 21 (IMD21)
VAR_066406 Myelodysplastic syndrome (MDS)

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

Variant ID Type Subtype PubMed ID
dgv1493e1 CNV Complex 17122850
dgv1494e1 CNV Complex 17122850
nsv508240 CNV Loss 20534489
dgv5250n71 CNV Loss 21882294
nsv516926 CNV Loss 19592680
nsv877464 CNV Loss 21882294
nsv508241 CNV Loss 20534489
nsv10318 CNV Gain 18304495
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

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

Disorders for GATA2 Gene

MalaCards: The human disease database

(19) 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
myelodysplastic syndrome
  • myelodysplastic syndrome, somatic
emberger syndrome
  • lymphedema, primary, with myelodysplasia
leukemia, acute myeloid
  • leukemia, acute myeloid, somatic
acute myeloid leukemia, flt3-related
  • leukemia, acute myeloid
- 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 23 67
  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 23
  3. Acetylation of lysine 564 adjacent to the C-terminal binding protein-binding motif in EVI1 is crucial for transcriptional activation of GATA2. (PMID: 20363750) Shimahara A. … Morishita K. (J. Biol. Chem. 2010) 3 23
  4. High GATA-2 expression inhibits human hematopoietic stem and progenitor cell function by effects on cell cycle. (PMID: 19168794) Tipping A.J. … Enver T. (Blood 2009) 3 23
  5. GATA-1 and GATA-2 binding to 3' enhancer of WT1 gene is essential for its transcription in acute leukemia and solid tumor cell lines. (PMID: 19212333) Furuhata A. … Murate T. (Leukemia 2009) 3 23

Products for GATA2 Gene

Sources for GATA2 Gene

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