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Protein

Endothelial transcription factor GATA-2

Gene

GATA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri295 – 319GATA-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri349 – 373GATA-type 2PROSITE-ProRule annotationAdd BLAST25

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, DNA-binding
Biological processPhagocytosis, Transcription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-8939236 RUNX1 regulates transcription of genes involved in differentiation of HSCs
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
SignaLinkiP23769
SIGNORiP23769

Names & Taxonomyi

Protein namesi
Recommended name:
Endothelial transcription factor GATA-2
Alternative name(s):
GATA-binding protein 2
Gene namesi
Name:GATA2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000179348.11
HGNCiHGNC:4171 GATA2
MIMi137295 gene
neXtProtiNX_P23769

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Immunodeficiency 21 (IMD21)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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 OMIM:614172
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066405254P → L in IMD21. 1 PublicationCorresponds to variant dbSNP:rs387906630EnsemblClinVar.1
Natural variantiVAR_066407398R → W in IMD21. 1 PublicationCorresponds to variant dbSNP:rs387906629EnsemblClinVar.1
Lymphedema, primary, with myelodysplasia (LMPM)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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 OMIM:614038
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066644361R → P in LMPM. 1 Publication1
Natural variantiVAR_066645373C → R in LMPM. 1 PublicationCorresponds to variant dbSNP:rs387906633EnsemblClinVar.1
Myelodysplastic syndrome (MDS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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 OMIM:614286
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066643355Missing in MDS. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi2624
MalaCardsiGATA2
MIMi614038 phenotype
614172 phenotype
614286 phenotype
OpenTargetsiENSG00000179348
Orphaneti519 Acute myeloid leukemia
3226 Deafness - lymphedema - leukemia
228423 Monocytopenia with susceptibility to infections
52688 Myelodysplastic syndrome
PharmGKBiPA28585

Polymorphism and mutation databases

BioMutaiGATA2
DMDMi229462971

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000834031 – 480Endothelial transcription factor GATA-2Add BLAST480

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei73PhosphoserineCombined sources1
Modified residuei86Asymmetric dimethylarginineCombined sources1
Modified residuei192PhosphoserineCombined sources1
Cross-linki389Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiP23769
MaxQBiP23769
PaxDbiP23769
PeptideAtlasiP23769
PRIDEiP23769
ProteomicsDBi54160
54161 [P23769-2]

PTM databases

iPTMnetiP23769
PhosphoSitePlusiP23769

Expressioni

Tissue specificityi

Endothelial cells.

Gene expression databases

BgeeiENSG00000179348
CleanExiHS_GATA2
ExpressionAtlasiP23769 baseline and differential
GenevisibleiP23769 HS

Organism-specific databases

HPAiCAB024847
HPA005633

Interactioni

Subunit structurei

Interacts with BRD3 (By similarity). Interacts with AR and CCAR1.By similarity1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

  • C2H2 zinc finger domain binding Source: BHF-UCL
  • RNA polymerase II transcription factor binding Source: GO_Central
  • transcription factor binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi108894, 40 interactors
DIPiDIP-29711N
IntActiP23769, 26 interactors
STRINGi9606.ENSP00000345681

Structurei

3D structure databases

ProteinModelPortaliP23769
SMRiP23769
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri295 – 319GATA-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri349 – 373GATA-type 2PROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1601 Eukaryota
COG5641 LUCA
GeneTreeiENSGT00760000119221
HOGENOMiHOG000047701
HOVERGENiHBG051705
InParanoidiP23769
KOiK17894
OMAiPRWMAHH
OrthoDBiEOG091G0AUR
PhylomeDBiP23769
TreeFamiTF315391

Family and domain databases

Gene3Di3.30.50.10, 2 hits
InterProiView protein in InterPro
IPR029522 GATA-2
IPR016374 TF_GATA-2/3
IPR000679 Znf_GATA
IPR013088 Znf_NHR/GATA
PANTHERiPTHR10071:SF149 PTHR10071:SF149, 1 hit
PfamiView protein in Pfam
PF00320 GATA, 2 hits
PIRSFiPIRSF003027 TF_GATA-1/2/3, 1 hit
PRINTSiPR00619 GATAZNFINGER
SMARTiView protein in SMART
SM00401 ZnF_GATA, 2 hits
PROSITEiView protein in PROSITE
PS00344 GATA_ZN_FINGER_1, 2 hits
PS50114 GATA_ZN_FINGER_2, 2 hits

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P23769-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MEVAPEQPRW MAHPAVLNAQ HPDSHHPGLA HNYMEPAQLL PPDEVDVFFN
60 70 80 90 100
HLDSQGNPYY ANPAHARARV SYSPAHARLT GGQMCRPHLL HSPGLPWLDG
110 120 130 140 150
GKAALSAAAA HHHNPWTVSP FSKTPLHPSA AGGPGGPLSV YPGAGGGSGG
160 170 180 190 200
GSGSSVASLT PTAAHSGSHL FGFPPTPPKE VSPDPSTTGA ASPASSSAGG
210 220 230 240 250
SAARGEDKDG VKYQVSLTES MKMESGSPLR PGLATMGTQP ATHHPIPTYP
260 270 280 290 300
SYVPAAAHDY SSGLFHPGGF LGGPASSFTP KQRSKARSCS EGRECVNCGA
310 320 330 340 350
TATPLWRRDG TGHYLCNACG LYHKMNGQNR PLIKPKRRLS AARRAGTCCA
360 370 380 390 400
NCQTTTTTLW RRNANGDPVC NACGLYYKLH NVNRPLTMKK EGIQTRNRKM
410 420 430 440 450
SNKSKKSKKG AECFEELSKC MQEKSSPFSA AALAGHMAPV GHLPPFSHSG
460 470 480
HILPTPTPIH PSSSLSFGHP HPSSMVTAMG
Length:480
Mass (Da):50,500
Last modified:May 5, 2009 - v3
Checksum:iC879CC932C355E6A
GO
Isoform 2 (identifier: P23769-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     340-353: Missing.

Show »
Length:466
Mass (Da):49,106
Checksum:iB074D2E927CE263B
GO

Sequence cautioni

The sequence AAA35869 differs from that shown. Several sequencing errors.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti9R → G in AAA35868 (PubMed:1714909).Curated1
Sequence conflicti20 – 21QH → HD in AAA35868 (PubMed:1714909).Curated2
Sequence conflicti38 – 39QL → HV in AAA35868 (PubMed:1714909).Curated2
Sequence conflicti69R → A in AAA35868 (PubMed:1714909).Curated1
Sequence conflicti82G → S in AAA35868 (PubMed:1714909).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_055004164A → T3 PublicationsCorresponds to variant dbSNP:rs2335052EnsemblClinVar.1
Natural variantiVAR_055005235T → N. Corresponds to variant dbSNP:rs35079193Ensembl.1
Natural variantiVAR_066405254P → L in IMD21. 1 PublicationCorresponds to variant dbSNP:rs387906630EnsemblClinVar.1
Natural variantiVAR_066406354T → M in IMD21 and MDS. 2 PublicationsCorresponds to variant dbSNP:rs387906631EnsemblClinVar.1
Natural variantiVAR_066643355Missing in MDS. 1 Publication1
Natural variantiVAR_066644361R → P in LMPM. 1 Publication1
Natural variantiVAR_066645373C → R in LMPM. 1 PublicationCorresponds to variant dbSNP:rs387906633EnsemblClinVar.1
Natural variantiVAR_066407398R → W in IMD21. 1 PublicationCorresponds to variant dbSNP:rs387906629EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_041126340 – 353Missing in isoform 2. 1 PublicationAdd BLAST14

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M68891 mRNA Translation: AAA35868.1
M77810 mRNA Translation: AAA35869.1 Sequence problems.
BT006671 mRNA Translation: AAP35317.1
AK314826 mRNA Translation: BAG37347.1
AC080005 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW79313.1
CH471052 Genomic DNA Translation: EAW79314.1
CH471052 Genomic DNA Translation: EAW79315.1
CH471052 Genomic DNA Translation: EAW79316.1
CH471052 Genomic DNA Translation: EAW79317.1
BC002557 mRNA Translation: AAH02557.1
BC015613 mRNA Translation: AAH15613.1
BC015577 mRNA Translation: AAH15577.1
BC018988 mRNA Translation: AAH18988.1
BC051272 mRNA Translation: AAH51272.1
BC051342 mRNA Translation: AAH51342.1
CCDSiCCDS3049.1 [P23769-1]
CCDS46903.1 [P23769-2]
PIRiA40815
A41782
RefSeqiNP_001139133.1, NM_001145661.1 [P23769-1]
NP_001139134.1, NM_001145662.1 [P23769-2]
NP_116027.2, NM_032638.4 [P23769-1]
UniGeneiHs.367725

Genome annotation databases

EnsembliENST00000341105; ENSP00000345681; ENSG00000179348 [P23769-1]
ENST00000430265; ENSP00000400259; ENSG00000179348 [P23769-2]
ENST00000487848; ENSP00000417074; ENSG00000179348 [P23769-1]
GeneIDi2624
KEGGihsa:2624
UCSCiuc003ekm.4 human [P23769-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiGATA2_HUMAN
AccessioniPrimary (citable) accession number: P23769
Secondary accession number(s): D3DNB3
, Q53YE0, Q96BH0, Q96BH8, Q9BUJ6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1991
Last sequence update: May 5, 2009
Last modified: June 20, 2018
This is version 173 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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