P23769 · GATA2_HUMAN
- ProteinEndothelial transcription factor GATA-2
- GeneGATA2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids480 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
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 nameEndothelial transcription factor GATA-2
- Alternative names
Gene names
- Community suggested namesGATA2
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP23769
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Immunodeficiency 21 (IMD21)
- Note
- 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 alsoMIM:614172
Natural variants in IMD21
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_066405 | 254 | P>L | in IMD21; dbSNP:rs387906630 | |
VAR_066406 | 354 | T>M | in IMD21 and MDS; dbSNP:rs387906631 | |
VAR_066407 | 398 | R>W | in IMD21; dbSNP:rs387906629 |
Lymphedema, primary, with myelodysplasia (LMPM)
- Note
- 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 alsoMIM:614038
Natural variants in LMPM
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_066644 | 361 | R>P | in LMPM | |
VAR_066645 | 373 | C>R | in LMPM; dbSNP:rs387906633 |
Myelodysplastic syndrome (MDS)
- Note
- 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 alsoMIM:614286
Natural variants in MDS
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_066406 | 354 | T>M | in IMD21 and MDS; dbSNP:rs387906631 | |
VAR_066643 | 355 | missing | in MDS |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_055004 | 164 | in dbSNP:rs2335052 | |||
Sequence: A → T | ||||||
Natural variant | VAR_055005 | 235 | in dbSNP:rs35079193 | |||
Sequence: T → N | ||||||
Natural variant | VAR_066405 | 254 | in IMD21; dbSNP:rs387906630 | |||
Sequence: P → L | ||||||
Natural variant | VAR_066406 | 354 | in IMD21 and MDS; dbSNP:rs387906631 | |||
Sequence: T → M | ||||||
Natural variant | VAR_066643 | 355 | in MDS | |||
Sequence: Missing | ||||||
Natural variant | VAR_066644 | 361 | in LMPM | |||
Sequence: R → P | ||||||
Natural variant | VAR_066645 | 373 | in LMPM; dbSNP:rs387906633 | |||
Sequence: C → R | ||||||
Natural variant | VAR_066407 | 398 | in IMD21; dbSNP:rs387906629 | |||
Sequence: R → W |
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.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue, modified residue (large scale data), cross-link.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000083403 | 1-480 | UniProt | Endothelial transcription factor GATA-2 | |||
Sequence: MEVAPEQPRWMAHPAVLNAQHPDSHHPGLAHNYMEPAQLLPPDEVDVFFNHLDSQGNPYYANPAHARARVSYSPAHARLTGGQMCRPHLLHSPGLPWLDGGKAALSAAAAHHHNPWTVSPFSKTPLHPSAAGGPGGPLSVYPGAGGGSGGGSGSSVASLTPTAAHSGSHLFGFPPTPPKEVSPDPSTTGAASPASSSAGGSAARGEDKDGVKYQVSLTESMKMESGSPLRPGLATMGTQPATHHPIPTYPSYVPAAAHDYSSGLFHPGGFLGGPASSFTPKQRSKARSCSEGRECVNCGATATPLWRRDGTGHYLCNACGLYHKMNGQNRPLIKPKRRLSAARRAGTCCANCQTTTTTLWRRNANGDPVCNACGLYYKLHNVNRPLTMKKEGIQTRNRKMSNKSKKSKKGAECFEELSKCMQEKSSPFSAAALAGHMAPVGHLPPFSHSGHILPTPTPIHPSSSLSFGHPHPSSMVTAMG | |||||||
Modified residue | 73 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 86 | UniProt | Asymmetric dimethylarginine | ||||
Sequence: R | |||||||
Modified residue (large scale data) | 182 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 192 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 192 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 220 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 288 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 290 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Cross-link | 389 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2) | ||||
Sequence: K |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Gene expression databases
Organism-specific databases
Interaction
Subunit
Interacts with AR and CCAR1. Interacts with MDFIC (By similarity).
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, compositional bias, zinc finger.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 119-209 | Disordered | ||||
Sequence: SPFSKTPLHPSAAGGPGGPLSVYPGAGGGSGGGSGSSVASLTPTAAHSGSHLFGFPPTPPKEVSPDPSTTGAASPASSSAGGSAARGEDKD | ||||||
Compositional bias | 151-165 | Polar residues | ||||
Sequence: GSGSSVASLTPTAAH | ||||||
Compositional bias | 183-199 | Polar residues | ||||
Sequence: PDPSTTGAASPASSSAG | ||||||
Zinc finger | 295-319 | GATA-type 1 | ||||
Sequence: CVNCGATATPLWRRDGTGHYLCNAC | ||||||
Zinc finger | 349-373 | GATA-type 2 | ||||
Sequence: CANCQTTTTTLWRRNANGDPVCNAC | ||||||
Region | 448-480 | Disordered | ||||
Sequence: HSGHILPTPTPIHPSSSLSFGHPHPSSMVTAMG | ||||||
Compositional bias | 456-471 | Polar residues | ||||
Sequence: PTPIHPSSSLSFGHPH |
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
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.
- Name1
- Length480
- Mass (Da)50,500
- Last updated2009-05-05 v3
- ChecksumC879CC932C355E6A
P23769-2
- Name2
- Differences from canonical
- 340-353: Missing
Computationally mapped potential isoform sequences
There are 5 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
C9J965 | C9J965_HUMAN | GATA2 | 150 | ||
A0A8Q3WMC3 | A0A8Q3WMC3_HUMAN | GATA2 | 76 | ||
A0A8Q3WLD0 | A0A8Q3WLD0_HUMAN | GATA2 | 574 | ||
A0A8Q3SJG7 | A0A8Q3SJG7_HUMAN | GATA2 | 192 | ||
A0A1D5RMQ8 | A0A1D5RMQ8_HUMAN | GATA2 | 8 |
Sequence caution
Features
Showing features for sequence conflict, compositional bias, alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 9 | in Ref. 1; AAA35868 | ||||
Sequence: R → G | ||||||
Sequence conflict | 20-21 | in Ref. 1; AAA35868 | ||||
Sequence: QH → HD | ||||||
Sequence conflict | 38-39 | in Ref. 1; AAA35868 | ||||
Sequence: QL → HV | ||||||
Sequence conflict | 69 | in Ref. 1; AAA35868 | ||||
Sequence: R → A | ||||||
Sequence conflict | 82 | in Ref. 1; AAA35868 | ||||
Sequence: G → S | ||||||
Compositional bias | 151-165 | Polar residues | ||||
Sequence: GSGSSVASLTPTAAH | ||||||
Compositional bias | 183-199 | Polar residues | ||||
Sequence: PDPSTTGAASPASSSAG | ||||||
Alternative sequence | VSP_041126 | 340-353 | in isoform 2 | |||
Sequence: Missing | ||||||
Compositional bias | 456-471 | Polar residues | ||||
Sequence: PTPIHPSSSLSFGHPH |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
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 |