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UniProtKB - P23769 (GATA2_HUMAN)

Entry version 182 (05 Jun 2019)
Sequence version 3 (05 May 2009)
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Protein

Endothelial transcription factor GATA-2

Gene

GATA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri295 – 319GATA-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri349 – 373GATA-type 2PROSITE-ProRule annotationAdd BLAST25

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-8939236 RUNX1 regulates transcription of genes involved in differentiation of HSCs
R-HSA-983231 Factors involved in megakaryocyte development and platelet production

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P23769

SIGNOR Signaling Network Open Resource

More...SIGNORi		P23769

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Endothelial transcription factor GATA-2
Alternative name(s):
GATA-binding protein 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GATA2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:4171 GATA2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		137295 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P23769

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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_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.
Related information in OMIM
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).
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066406354T → M in IMD21 and MDS. 2 PublicationsCorresponds to variant dbSNP:rs387906631EnsemblClinVar.1
Natural variantiVAR_066643355Missing in MDS. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		2624

MalaCards human disease database

More...MalaCardsi		GATA2
MIMi614038 phenotype
614172 phenotype
614286 phenotype

Open Targets

More...OpenTargetsi		ENSG00000179348

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		3226 Deafness-lymphedema-leukemia syndrome
319465 Inherited acute myeloid leukemia
228423 Monocytopenia with susceptibility to infections
52688 Myelodysplastic syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28585

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GATA2

Domain mapping of disease mutations (DMDM)

More...DMDMi		229462971

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000834031 – 480Endothelial transcription factor GATA-2Add BLAST480

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei73PhosphoserineCombined sources1
Modified residuei86Asymmetric dimethylarginineCombined sources1
Modified residuei192PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki389Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P23769

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P23769

MaxQB - The MaxQuant DataBase

More...MaxQBi		P23769

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P23769

PeptideAtlas

More...PeptideAtlasi		P23769

PRoteomics IDEntifications database

More...PRIDEi		P23769

ProteomicsDB human proteome resource

More...ProteomicsDBi		54160
54161 [P23769-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P23769

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P23769

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Endothelial cells.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000179348 Expressed in 220 organ(s), highest expression level in endometrium

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P23769 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P23769 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB024847
HPA005633

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with BRD3 (By similarity).

Interacts with AR and CCAR1.

By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		108894, 45 interactors

Database of interacting proteins

More...DIPi		DIP-29711N

Protein interaction database and analysis system

More...IntActi		P23769, 30 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000345681

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1480
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P23769

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1601 Eukaryota
COG5641 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156315

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000047701

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P23769

KEGG Orthology (KO)

More...KOi		K17894

Identification of Orthologs from Complete Genome Data

More...OMAi		TDSMKME

Database of Orthologous Groups

More...OrthoDBi		1240204at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P23769

TreeFam database of animal gene trees

More...TreeFami		TF315391

Family and domain databases

Conserved Domains Database

More...CDDi		cd00202 ZnF_GATA, 2 hits

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.50.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR029522 GATA-2
IPR016374 TF_GATA-2/3
IPR039355 Transcription_factor_GATA
IPR000679 Znf_GATA
IPR013088 Znf_NHR/GATA

The PANTHER Classification System

More...PANTHERi		PTHR10071 PTHR10071, 1 hit
PTHR10071:SF149 PTHR10071:SF149, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00320 GATA, 2 hits

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF003027 TF_GATA-1/2/3, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00619 GATAZNFINGER

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00401 ZnF_GATA, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00344 GATA_ZN_FINGER_1, 2 hits
PS50114 GATA_ZN_FINGER_2, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J965C9J965_HUMAN
Endothelial transcription factor GA...
GATA2
150Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1D5RMQ8A0A1D5RMQ8_HUMAN
Endothelial transcription factor GA...
GATA2
8Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_041126340 – 353Missing in isoform 2. 1 PublicationAdd BLAST14

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS3049.1 [P23769-1]
CCDS46903.1 [P23769-2]

Protein sequence database of the Protein Information Resource

More...PIRi		A40815
A41782

NCBI Reference Sequences

More...RefSeqi		NP_001139133.1, NM_001145661.1 [P23769-1]
NP_001139134.1, NM_001145662.1 [P23769-2]
NP_116027.2, NM_032638.4 [P23769-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000341105; ENSP00000345681; ENSG00000179348 [P23769-1]
ENST00000430265; ENSP00000400259; ENSG00000179348 [P23769-2]
ENST00000487848; ENSP00000417074; ENSG00000179348 [P23769-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2624

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2624

UCSC genome browser

More...UCSCi		uc003ekm.4 human [P23769-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5O9BNMR-A343-391[»]
SMRiP23769
ModBaseiSearch...

Protein-protein interaction databases

BioGridi108894, 45 interactors
DIPiDIP-29711N
IntActiP23769, 30 interactors
STRINGi9606.ENSP00000345681

PTM databases

iPTMnetiP23769
PhosphoSitePlusiP23769

Polymorphism and mutation databases

BioMutaiGATA2
DMDMi229462971

Proteomic databases

EPDiP23769
jPOSTiP23769
MaxQBiP23769
PaxDbiP23769
PeptideAtlasiP23769
PRIDEiP23769
ProteomicsDBi54160
54161 [P23769-2]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		2624
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2624
DisGeNETi2624

GeneCards: human genes, protein and diseases

More...GeneCardsi		GATA2
HGNCiHGNC:4171 GATA2
HPAiCAB024847
HPA005633
MalaCardsiGATA2
MIMi137295 gene
614038 phenotype
614172 phenotype
614286 phenotype
neXtProtiNX_P23769
OpenTargetsiENSG00000179348
Orphaneti3226 Deafness-lymphedema-leukemia syndrome
319465 Inherited acute myeloid leukemia
228423 Monocytopenia with susceptibility to infections
52688 Myelodysplastic syndrome
PharmGKBiPA28585

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1601 Eukaryota
COG5641 LUCA
GeneTreeiENSGT00940000156315
HOGENOMiHOG000047701
InParanoidiP23769
KOiK17894
OMAiTDSMKME
OrthoDBi1240204at2759
PhylomeDBiP23769
TreeFamiTF315391

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		GATA2 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		GATA2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		2624

Protein Ontology

More...PROi		PR:P23769

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000179348 Expressed in 220 organ(s), highest expression level in endometrium
ExpressionAtlasiP23769 baseline and differential
GenevisibleiP23769 HS

Family and domain databases

CDDicd00202 ZnF_GATA, 2 hits
Gene3Di3.30.50.10, 2 hits
InterProiView protein in InterPro
IPR029522 GATA-2
IPR016374 TF_GATA-2/3
IPR039355 Transcription_factor_GATA
IPR000679 Znf_GATA
IPR013088 Znf_NHR/GATA
PANTHERiPTHR10071 PTHR10071, 1 hit
PTHR10071: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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGATA2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P23769
Secondary accession number(s): D3DNB3
, Q53YE0, Q96BH0, Q96BH8, Q9BUJ6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1991
Last sequence update: May 5, 2009
Last modified: June 5, 2019
This is version 182 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  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
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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