P23769 · GATA2_HUMAN

  • Protein
    Endothelial transcription factor GATA-2
  • Gene
    GATA2
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

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

GO annotations

all annotationsall molecular functionvirus receptor activitydna bindingrna bindingcytoskeletal motor activitycatalytic activitygtpase activitystructural molecule activitytransporter activitycytoskeletal protein bindinglipid bindingcyclase activityantioxidant activityoxidoreductase activitytransferase activityhydrolase activitylyase activityisomerase activityligase activityprotein tag activitycargo receptor activityhistone bindingprotein folding chaperonetranslation regulator activitynutrient reservoir activityreceptor ligand activitymolecular transducer activitymolecular adaptor activitytoxin activitycell adhesion mediator activitymolecular function regulator activityvirus coreceptor activitycatalytic activity, acting on a proteincatalytic activity, acting on dnacatalytic activity, acting on rnamolecular carrier activitytranscription regulator activitygeneral transcription initiation factor activitymolecular sensor activitymolecular sequestering activityatp-dependent activityother molecular functionall biological processmitotic cell cyclecytokinesiscytoplasmic translationimmune system processmuscle system processcirculatory system processrenal system processrespiratory system processcarbohydrate metabolic processgeneration of precursor metabolites and energydna replicationdna repairdna recombinationchromatin organizationdna-templated transcriptionregulation of dna-templated transcriptiontrna metabolic processprotein foldingprotein glycosylationamino acid metabolic processmodified amino acid metabolic processlipid metabolic processvitamin metabolic processsulfur compound metabolic processintracellular protein transportnucleocytoplasmic transportautophagyinflammatory responsemitochondrion organizationcytoskeleton organizationmicrotubule-based movementperoxisome organizationlysosome organizationchromosome segregationcell adhesionestablishment or maintenance of cell polarityprogrammed cell deathphotosynthesismrna metabolic processsnrna metabolic processvesicle-mediated transportreproductive processdigestive system processsignalingcell differentiationprotein catabolic processextracellular matrix organizationregulatory ncrna-mediated gene silencingtelomere organizationcell junction organizationwound healingribosome biogenesiscilium organizationanatomical structure developmentcell motilitynervous system processendocrine processprotein maturationtransmembrane transportnucleobase-containing small molecule metabolic processhepaticobiliary system processmembrane organizationprotein-containing complex assemblycell wall organization or biogenesisnitrogen cycle metabolic processprotein localization to plasma membranedefense response to other organismdetoxificationmeiotic nuclear divisionmitotic nuclear divisionmitochondrial gene expressioncarbohydrate derivative metabolic processother biological processall cellular componentnuclear chromosomeextracellular regionextracellular spacecell wallnucleusnuclear envelopenucleoplasmchromosomenucleolusmitochondrionlysosomeendosomevacuoleperoxisomeendoplasmic reticulumgolgi apparatuslipid dropletmicrotubule organizing centercytosolribosomecytoskeletonplasma membraneciliumplastidthylakoidexternal encapsulating structureextracellular matrixcytoplasmic vesicleorganelleother cellular component
Cell color indicative of number of GO terms
AspectTerm
Cellular Componentcytoplasm
Cellular Componentnucleoplasm
Cellular Componentnucleus
Cellular Componenttranscription regulator complex
Molecular FunctionC2H2 zinc finger domain binding
Molecular Functionchromatin binding
Molecular FunctionDNA-binding transcription activator activity, RNA polymerase II-specific
Molecular FunctionDNA-binding transcription factor activity
Molecular FunctionDNA-binding transcription factor activity, RNA polymerase II-specific
Molecular FunctionRNA polymerase II cis-regulatory region sequence-specific DNA binding
Molecular FunctionRNA polymerase II-specific DNA-binding transcription factor binding
Molecular Functionsequence-specific double-stranded DNA binding
Molecular Functiontranscription coactivator binding
Molecular Functiontranscription coregulator binding
Molecular Functionzinc ion binding
Biological Processbrown fat cell differentiation
Biological Processcell differentiation in hindbrain
Biological Processcell fate commitment
Biological Processcell fate determination
Biological Processcentral nervous system neuron development
Biological Processcochlea development
Biological Processcommitment of neuronal cell to specific neuron type in forebrain
Biological Processdefinitive hemopoiesis
Biological Processembryonic placenta development
Biological Processeosinophil fate commitment
Biological Processfat cell differentiation
Biological ProcessGABAergic neuron differentiation
Biological Processglandular epithelial cell maturation
Biological Processhematopoietic progenitor cell differentiation
Biological Processhematopoietic stem cell homeostasis
Biological Processhomeostasis of number of cells within a tissue
Biological Processinner ear morphogenesis
Biological Processnegative regulation of brown fat cell differentiation
Biological Processnegative regulation of endothelial cell apoptotic process
Biological Processnegative regulation of gene expression
Biological Processnegative regulation of hematopoietic progenitor cell differentiation
Biological Processnegative regulation of macrophage differentiation
Biological Processnegative regulation of neural precursor cell proliferation
Biological Processnegative regulation of neuroblast proliferation
Biological Processnegative regulation of Notch signaling pathway
Biological Processnegative regulation of transcription by RNA polymerase II
Biological Processneuroblast proliferation
Biological Processneuron maturation
Biological Processneuron migration
Biological Processphagocytosis
Biological Processpositive regulation of angiogenesis
Biological Processpositive regulation of blood vessel endothelial cell migration
Biological Processpositive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis
Biological Processpositive regulation of cell migration involved in sprouting angiogenesis
Biological Processpositive regulation of cytosolic calcium ion concentration
Biological Processpositive regulation of erythrocyte differentiation
Biological Processpositive regulation of gene expression
Biological Processpositive regulation of mast cell degranulation
Biological Processpositive regulation of megakaryocyte differentiation
Biological Processpositive regulation of miRNA transcription
Biological Processpositive regulation of neuron differentiation
Biological Processpositive regulation of phagocytosis
Biological Processpositive regulation of phagocytosis, engulfment
Biological Processpositive regulation of transcription by RNA polymerase II
Biological Processregulation of forebrain neuron differentiation
Biological Processregulation of primitive erythrocyte differentiation
Biological Processresponse to lipid
Biological Processsemicircular canal development
Biological Processsomatic stem cell population maintenance
Biological Processthyroid-stimulating hormone-secreting cell differentiation
Biological Processtranscription by RNA polymerase II
Biological Processurogenital system development
Biological Processvascular wound healing
Biological Processventral spinal cord interneuron differentiation

Keywords

Enzyme and pathway databases

Community curation (1)

The subsequence GPASSFTPKQRSKARSCSEGRECVNCGATATPLWRRDGTGHYLCNACGLYHKMNGQNRPLIKPKRRLSAARRAGTCCANC, which contains the GATA domain; and the subsequence GQNRPLIKPKRRLSAARRAGTCCANCQTTTTTLWRRNANGDPVCNACGLYYKLHNVNRPLTMKKEGIQTRNRKMSNKSKK, which contains the GATA domain, show transcriptional repressor activity in a high-throughput recruitment assay.

Names & Taxonomy

Protein names

  • Recommended name
    Endothelial transcription factor GATA-2
  • Alternative names
    • GATA-binding protein 2

Gene names

    • Name
      GATA2
Community curation (1)

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    P23769
  • Secondary accessions
    • D3DNB3
    • Q53YE0
    • Q96BH0
    • Q96BH8
    • Q9BUJ6

Proteomes

Organism-specific databases

Subcellular Location

Disease & Variants

Involvement in disease

Immunodeficiency 21 (IMD21)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    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.
  • See also
    MIM:614172
Natural variants in IMD21
Variant IDPosition(s)ChangeDescription
VAR_066405254P>Lin IMD21; dbSNP:rs387906630
VAR_066406354T>Min IMD21 and MDS; dbSNP:rs387906631
VAR_066407398R>Win IMD21; dbSNP:rs387906629

Lymphedema, primary, with myelodysplasia (LMPM)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    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.
  • See also
    MIM:614038
Natural variants in LMPM
Variant IDPosition(s)ChangeDescription
VAR_066644361R>Pin LMPM
VAR_066645373C>Rin LMPM; dbSNP:rs387906633

Myelodysplastic syndrome (MDS)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    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).
  • See also
    MIM:614286
Natural variants in MDS
Variant IDPosition(s)ChangeDescription
VAR_066406354T>Min IMD21 and MDS; dbSNP:rs387906631
VAR_066643355missingin MDS

Features

Showing features for natural variant.

TypeIDPosition(s)Description
Natural variantVAR_055004164in dbSNP:rs2335052
Natural variantVAR_055005235in dbSNP:rs35079193
Natural variantVAR_066405254in IMD21; dbSNP:rs387906630
Natural variantVAR_066406354in IMD21 and MDS; dbSNP:rs387906631
Natural variantVAR_066643355in MDS
Natural variantVAR_066644361in LMPM
Natural variantVAR_066645373in LMPM; dbSNP:rs387906633
Natural variantVAR_066407398in IMD21; dbSNP:rs387906629

Variants

We now provide the "Disease & Variants" viewer in its own tab.

The viewer provides 1,125 variants from UniProt as well as other sources including ClinVar and dbSNP.

Go to variant viewer

Keywords

Organism-specific databases

Miscellaneous

Chemistry

Genetic variation databases

PTM/Processing

Features

Showing features for chain, modified residue, modified residue (large scale data), cross-link.

TypeIDPosition(s)SourceDescription
ChainPRO_00000834031-480UniProtEndothelial transcription factor GATA-2
Modified residue73UniProtPhosphoserine
Modified residue86UniProtAsymmetric dimethylarginine
Modified residue (large scale data)182PRIDEPhosphoserine
Modified residue192UniProtPhosphoserine
Modified residue (large scale data)192PRIDEPhosphoserine
Modified residue (large scale data)220PRIDEPhosphoserine
Modified residue (large scale data)288PRIDEPhosphoserine
Modified residue (large scale data)290PRIDEPhosphoserine
Cross-link389UniProtGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)

Keywords

Proteomic databases

PTM databases

Expression

Tissue specificity

Endothelial cells.

Gene expression databases

Organism-specific databases

Interaction

Subunit

Interacts with BRD3 (By similarity).
Interacts with AR and CCAR1. Interacts with MDFIC (By similarity).

Binary interactions

TypeEntry 1Entry 2Number of experimentsIntact
BINARY P23769ADAMTSL4 Q6UY14-33EBI-2806671, EBI-10173507
BINARY P23769CREBBP Q927932EBI-2806671, EBI-81215
BINARY P23769CYSRT1 A8MQ033EBI-2806671, EBI-3867333
BINARY P23769FHL3 Q136435EBI-2806671, EBI-741101
BINARY P23769GOLGA2 Q083794EBI-2806671, EBI-618309
BINARY P23769KRT40 Q6A1623EBI-2806671, EBI-10171697
BINARY P23769KRTAP10-9 P604113EBI-2806671, EBI-10172052
BINARY P23769KRTAP11-1 Q8IUC13EBI-2806671, EBI-1052037
BINARY P23769KRTAP13-3 Q3SY463EBI-2806671, EBI-10241252
BINARY P23769KRTAP21-2 Q3LI593EBI-2806671, EBI-18395721
BINARY P23769KRTAP3-1 Q9BYR83EBI-2806671, EBI-9996449
BINARY P23769KRTAP6-3 Q3LI673EBI-2806671, EBI-22311199
BINARY P23769KRTAP7-1 Q8IUC33EBI-2806671, EBI-18394498
BINARY P23769KRTAP8-1 Q8IUC23EBI-2806671, EBI-10261141
XENO P23769Lmo2 P258013EBI-2806671, EBI-3903256
BINARY P23769MDFI Q997504EBI-2806671, EBI-724076
BINARY P23769MSX2 P355483EBI-2806671, EBI-6447480
BINARY P23769NOTCH2NLA Q7Z3S94EBI-2806671, EBI-945833
BINARY P23769PRR20C P864793EBI-2806671, EBI-10172814
BINARY P23769PSMA3 P257884EBI-2806671, EBI-348380
BINARY P23769RBPMS Q93062-33EBI-2806671, EBI-740343
BINARY P23769SMAD4 Q134855EBI-2806671, EBI-347263
BINARY P23769SPI1 P179474EBI-2806671, EBI-2293548
BINARY P23769TRAF1 Q130773EBI-2806671, EBI-359224
BINARY P23769TRIM23 P364064EBI-2806671, EBI-740098
BINARY P23769-2CHAT P28329-33EBI-21856389, EBI-25837549
BINARY P23769-2FGFR3 P226073EBI-21856389, EBI-348399
BINARY P23769-2GRN P287993EBI-21856389, EBI-747754
BINARY P23769-2RNF11 Q9Y3C53EBI-21856389, EBI-396669
BINARY P23769-2WFS1 O760243EBI-21856389, EBI-720609

Protein-protein interaction databases

Miscellaneous

Family & Domains

Features

Showing features for region, compositional bias, zinc finger.

TypeIDPosition(s)Description
Region119-209Disordered
Compositional bias151-165Polar residues
Compositional bias183-199Polar residues
Zinc finger295-319GATA-type 1
Zinc finger349-373GATA-type 2
Region448-480Disordered
Compositional bias456-471Polar residues

Keywords

Phylogenomic databases

Family and domain databases

Sequence & Isoform

Align isoforms (2)
  • Sequence status
    Complete

This entry describes 2 isoforms produced by Alternative splicing.

P23769-1

This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

  • Length
    480
  • Mass (Da)
    50,500
  • Last updated
    2009-05-05 v3
  • Checksum
    C879CC932C355E6A
MEVAPEQPRWMAHPAVLNAQHPDSHHPGLAHNYMEPAQLLPPDEVDVFFNHLDSQGNPYYANPAHARARVSYSPAHARLTGGQMCRPHLLHSPGLPWLDGGKAALSAAAAHHHNPWTVSPFSKTPLHPSAAGGPGGPLSVYPGAGGGSGGGSGSSVASLTPTAAHSGSHLFGFPPTPPKEVSPDPSTTGAASPASSSAGGSAARGEDKDGVKYQVSLTESMKMESGSPLRPGLATMGTQPATHHPIPTYPSYVPAAAHDYSSGLFHPGGFLGGPASSFTPKQRSKARSCSEGRECVNCGATATPLWRRDGTGHYLCNACGLYHKMNGQNRPLIKPKRRLSAARRAGTCCANCQTTTTTLWRRNANGDPVCNACGLYYKLHNVNRPLTMKKEGIQTRNRKMSNKSKKSKKGAECFEELSKCMQEKSSPFSAAALAGHMAPVGHLPPFSHSGHILPTPTPIHPSSSLSFGHPHPSSMVTAMG

P23769-2

  • Name
    2
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical

Computationally mapped potential isoform sequences

There are 5 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
C9J965C9J965_HUMANGATA2150
A0A8Q3WMC3A0A8Q3WMC3_HUMANGATA276
A0A8Q3WLD0A0A8Q3WLD0_HUMANGATA2574
A0A8Q3SJG7A0A8Q3SJG7_HUMANGATA2192
A0A1D5RMQ8A0A1D5RMQ8_HUMANGATA28

Sequence caution

The sequence AAA35869.1 differs from that shown. Reason: Miscellaneous discrepancy Several sequencing errors.

Features

Showing features for sequence conflict, compositional bias, alternative sequence.

TypeIDPosition(s)Description
Sequence conflict9in Ref. 1; AAA35868
Sequence conflict20-21in Ref. 1; AAA35868
Sequence conflict38-39in Ref. 1; AAA35868
Sequence conflict69in Ref. 1; AAA35868
Sequence conflict82in Ref. 1; AAA35868
Compositional bias151-165Polar residues
Compositional bias183-199Polar residues
Alternative sequenceVSP_041126340-353in isoform 2
Compositional bias456-471Polar residues

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
M68891
EMBL· GenBank· DDBJ
AAA35868.1
EMBL· GenBank· DDBJ
mRNA
M77810
EMBL· GenBank· DDBJ
AAA35869.1
EMBL· GenBank· DDBJ
mRNA Sequence problems.
BT006671
EMBL· GenBank· DDBJ
AAP35317.1
EMBL· GenBank· DDBJ
mRNA
AK314826
EMBL· GenBank· DDBJ
BAG37347.1
EMBL· GenBank· DDBJ
mRNA
AC080005
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
CH471052
EMBL· GenBank· DDBJ
EAW79313.1
EMBL· GenBank· DDBJ
Genomic DNA
CH471052
EMBL· GenBank· DDBJ
EAW79314.1
EMBL· GenBank· DDBJ
Genomic DNA
CH471052
EMBL· GenBank· DDBJ
EAW79315.1
EMBL· GenBank· DDBJ
Genomic DNA
CH471052
EMBL· GenBank· DDBJ
EAW79316.1
EMBL· GenBank· DDBJ
Genomic DNA
CH471052
EMBL· GenBank· DDBJ
EAW79317.1
EMBL· GenBank· DDBJ
Genomic DNA
BC002557
EMBL· GenBank· DDBJ
AAH02557.1
EMBL· GenBank· DDBJ
mRNA
BC015613
EMBL· GenBank· DDBJ
AAH15613.1
EMBL· GenBank· DDBJ
mRNA
BC015577
EMBL· GenBank· DDBJ
AAH15577.1
EMBL· GenBank· DDBJ
mRNA
BC018988
EMBL· GenBank· DDBJ
AAH18988.1
EMBL· GenBank· DDBJ
mRNA
BC051272
EMBL· GenBank· DDBJ
AAH51272.1
EMBL· GenBank· DDBJ
mRNA
BC051342
EMBL· GenBank· DDBJ
AAH51342.1
EMBL· GenBank· DDBJ
mRNA

Genome annotation databases

Similar Proteins

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.
We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.
FeedbackHelp