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P23769

- GATA2_HUMAN

UniProt

P23769 - GATA2_HUMAN

Protein

Endothelial transcription factor GATA-2

Gene

GATA2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 138 (01 Oct 2014)
      Sequence version 3 (05 May 2009)
      Previous versions | rss
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    Functioni

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

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri295 – 31925GATA-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri349 – 37325GATA-type 2PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. C2H2 zinc finger domain binding Source: BHF-UCL
    2. chromatin binding Source: MGI
    3. enhancer sequence-specific DNA binding Source: MGI
    4. protein binding Source: UniProtKB
    5. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
    6. RNA polymerase II distal enhancer sequence-specific DNA binding Source: Ensembl
    7. sequence-specific DNA binding transcription factor activity Source: UniProtKB
    8. transcription factor binding Source: BHF-UCL
    9. zinc ion binding Source: InterPro

    GO - Biological processi

    1. blood coagulation Source: Reactome
    2. cell differentiation in hindbrain Source: Ensembl
    3. cell fate determination Source: Ensembl
    4. cell maturation Source: Ensembl
    5. central nervous system neuron development Source: Ensembl
    6. definitive hemopoiesis Source: Ensembl
    7. embryonic placenta development Source: Ensembl
    8. eosinophil fate commitment Source: BHF-UCL
    9. homeostasis of number of cells within a tissue Source: Ensembl
    10. inner ear morphogenesis Source: Ensembl
    11. negative regulation of fat cell differentiation Source: UniProtKB
    12. negative regulation of fat cell proliferation Source: UniProtKB
    13. negative regulation of macrophage differentiation Source: Ensembl
    14. negative regulation of neural precursor cell proliferation Source: MGI
    15. negative regulation of Notch signaling pathway Source: MGI
    16. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    17. neuron fate commitment Source: Ensembl
    18. phagocytosis Source: UniProtKB-KW
    19. pituitary gland development Source: Ensembl
    20. positive regulation of angiogenesis Source: MGI
    21. positive regulation of erythrocyte differentiation Source: Ensembl
    22. positive regulation of megakaryocyte differentiation Source: Ensembl
    23. positive regulation of phagocytosis Source: UniProtKB
    24. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    25. regulation of histone acetylation Source: Ensembl
    26. semicircular canal development Source: Ensembl
    27. somatic stem cell maintenance Source: Ensembl
    28. transcription, DNA-templated Source: UniProtKB
    29. urogenital system development Source: Ensembl
    30. ventral spinal cord interneuron differentiation Source: Ensembl

    Keywords - Molecular functioni

    Activator

    Keywords - Biological processi

    Phagocytosis, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding, Metal-binding, Zinc

    Enzyme and pathway databases

    ReactomeiREACT_24970. Factors involved in megakaryocyte development and platelet production.
    SignaLinkiP23769.

    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
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:4171. GATA2.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleoplasm Source: Reactome
    2. nucleus Source: HPA
    3. protein complex Source: Ensembl

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti254 – 2541P → L in IMD21. 1 Publication
    VAR_066405
    Natural varianti354 – 3541T → M in IMD21 and MDS. 2 Publications
    VAR_066406
    Natural varianti398 – 3981R → W in IMD21. 1 Publication
    VAR_066407
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti361 – 3611R → P in LMPM. 1 Publication
    VAR_066644
    Natural varianti373 – 3731C → R in LMPM. 1 Publication
    VAR_066645
    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).1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti354 – 3541T → M in IMD21 and MDS. 2 Publications
    VAR_066406
    Natural varianti355 – 3551Missing in MDS. 1 Publication
    VAR_066643

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi614038. phenotype.
    614172. phenotype.
    614286. phenotype.
    Orphaneti519. Acute myeloid leukemia.
    3226. Deafness - lymphedema - leukemia.
    228423. Monocytopenia with susceptibility to infections.
    52688. Myelodysplastic syndromes.
    PharmGKBiPA28585.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 480480Endothelial transcription factor GATA-2PRO_0000083403Add
    BLAST

    Proteomic databases

    MaxQBiP23769.
    PaxDbiP23769.
    PRIDEiP23769.

    PTM databases

    PhosphoSiteiP23769.

    Expressioni

    Tissue specificityi

    Endothelial cells.

    Gene expression databases

    ArrayExpressiP23769.
    BgeeiP23769.
    CleanExiHS_GATA2.
    GenevestigatoriP23769.

    Organism-specific databases

    HPAiCAB024847.
    HPA005633.

    Interactioni

    Subunit structurei

    Interacts with BRD3.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Lmo2P258013EBI-2806671,EBI-3903256From a different organism.
    SMAD4Q134852EBI-2806671,EBI-347263

    Protein-protein interaction databases

    BioGridi108894. 18 interactions.
    DIPiDIP-29711N.
    IntActiP23769. 5 interactions.
    STRINGi9606.ENSP00000345681.

    Structurei

    3D structure databases

    ProteinModelPortaliP23769.
    SMRiP23769. Positions 261-397.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Contains 2 GATA-type zinc fingers.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri295 – 31925GATA-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri349 – 37325GATA-type 2PROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiCOG5641.
    HOGENOMiHOG000047701.
    HOVERGENiHBG051705.
    InParanoidiP23769.
    KOiK17894.
    OMAiNKKGAEC.
    OrthoDBiEOG7CCBRF.
    PhylomeDBiP23769.
    TreeFamiTF315391.

    Family and domain databases

    Gene3Di3.30.50.10. 2 hits.
    InterProiIPR029522. GATA-2.
    IPR016374. TF_GATA-1/2/3.
    IPR000679. Znf_GATA.
    IPR013088. Znf_NHR/GATA.
    [Graphical view]
    PANTHERiPTHR10071:SF149. PTHR10071:SF149. 1 hit.
    PfamiPF00320. GATA. 2 hits.
    [Graphical view]
    PIRSFiPIRSF003027. TF_GATA-1/2/3. 1 hit.
    PRINTSiPR00619. GATAZNFINGER.
    SMARTiSM00401. ZnF_GATA. 2 hits.
    [Graphical view]
    PROSITEiPS00344. GATA_ZN_FINGER_1. 2 hits.
    PS50114. GATA_ZN_FINGER_2. 2 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    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

    MEVAPEQPRW MAHPAVLNAQ HPDSHHPGLA HNYMEPAQLL PPDEVDVFFN    50
    HLDSQGNPYY ANPAHARARV SYSPAHARLT GGQMCRPHLL HSPGLPWLDG 100
    GKAALSAAAA HHHNPWTVSP FSKTPLHPSA AGGPGGPLSV YPGAGGGSGG 150
    GSGSSVASLT PTAAHSGSHL FGFPPTPPKE VSPDPSTTGA ASPASSSAGG 200
    SAARGEDKDG VKYQVSLTES MKMESGSPLR PGLATMGTQP ATHHPIPTYP 250
    SYVPAAAHDY SSGLFHPGGF LGGPASSFTP KQRSKARSCS EGRECVNCGA 300
    TATPLWRRDG TGHYLCNACG LYHKMNGQNR PLIKPKRRLS AARRAGTCCA 350
    NCQTTTTTLW RRNANGDPVC NACGLYYKLH NVNRPLTMKK EGIQTRNRKM 400
    SNKSKKSKKG AECFEELSKC MQEKSSPFSA AALAGHMAPV GHLPPFSHSG 450
    HILPTPTPIH PSSSLSFGHP HPSSMVTAMG 480
    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 AAA35869.1 differs from that shown. Reason: Several sequencing errors.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti9 – 91R → G in AAA35868. (PubMed:1714909)Curated
    Sequence conflicti20 – 212QH → HD in AAA35868. (PubMed:1714909)Curated
    Sequence conflicti38 – 392QL → HV in AAA35868. (PubMed:1714909)Curated
    Sequence conflicti69 – 691R → A in AAA35868. (PubMed:1714909)Curated
    Sequence conflicti82 – 821G → S in AAA35868. (PubMed:1714909)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti164 – 1641A → T.3 Publications
    Corresponds to variant rs2335052 [ dbSNP | Ensembl ].
    VAR_055004
    Natural varianti235 – 2351T → N.
    Corresponds to variant rs35079193 [ dbSNP | Ensembl ].
    VAR_055005
    Natural varianti254 – 2541P → L in IMD21. 1 Publication
    VAR_066405
    Natural varianti354 – 3541T → M in IMD21 and MDS. 2 Publications
    VAR_066406
    Natural varianti355 – 3551Missing in MDS. 1 Publication
    VAR_066643
    Natural varianti361 – 3611R → P in LMPM. 1 Publication
    VAR_066644
    Natural varianti373 – 3731C → R in LMPM. 1 Publication
    VAR_066645
    Natural varianti398 – 3981R → W in IMD21. 1 Publication
    VAR_066407

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei340 – 35314Missing in isoform 2. 1 PublicationVSP_041126Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.3. human. [P23769-1]
    uc003ekn.3. human. [P23769-2]

    Polymorphism databases

    DMDMi229462971.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS3049.1. [P23769-1 ]
    CCDS46903.1. [P23769-2 ]
    PIRi A40815.
    A41782.
    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 ]
    UniGenei Hs.367725.

    3D structure databases

    ProteinModelPortali P23769.
    SMRi P23769. Positions 261-397.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108894. 18 interactions.
    DIPi DIP-29711N.
    IntActi P23769. 5 interactions.
    STRINGi 9606.ENSP00000345681.

    PTM databases

    PhosphoSitei P23769.

    Polymorphism databases

    DMDMi 229462971.

    Proteomic databases

    MaxQBi P23769.
    PaxDbi P23769.
    PRIDEi P23769.

    Protocols and materials databases

    DNASUi 2624.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000341105 ; ENSP00000345681 ; ENSG00000179348 . [P23769-1 ]
    ENST00000430265 ; ENSP00000400259 ; ENSG00000179348 . [P23769-2 ]
    ENST00000487848 ; ENSP00000417074 ; ENSG00000179348 . [P23769-1 ]
    GeneIDi 2624.
    KEGGi hsa:2624.
    UCSCi uc003ekm.3. human. [P23769-1 ]
    uc003ekn.3. human. [P23769-2 ]

    Organism-specific databases

    CTDi 2624.
    GeneCardsi GC03M128198.
    HGNCi HGNC:4171. GATA2.
    HPAi CAB024847.
    HPA005633.
    MIMi 137295. gene.
    614038. phenotype.
    614172. phenotype.
    614286. phenotype.
    neXtProti NX_P23769.
    Orphaneti 519. Acute myeloid leukemia.
    3226. Deafness - lymphedema - leukemia.
    228423. Monocytopenia with susceptibility to infections.
    52688. Myelodysplastic syndromes.
    PharmGKBi PA28585.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5641.
    HOGENOMi HOG000047701.
    HOVERGENi HBG051705.
    InParanoidi P23769.
    KOi K17894.
    OMAi NKKGAEC.
    OrthoDBi EOG7CCBRF.
    PhylomeDBi P23769.
    TreeFami TF315391.

    Enzyme and pathway databases

    Reactomei REACT_24970. Factors involved in megakaryocyte development and platelet production.
    SignaLinki P23769.

    Miscellaneous databases

    ChiTaRSi GATA2. human.
    GeneWikii GATA2.
    GenomeRNAii 2624.
    NextBioi 10335.
    PROi P23769.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P23769.
    Bgeei P23769.
    CleanExi HS_GATA2.
    Genevestigatori P23769.

    Family and domain databases

    Gene3Di 3.30.50.10. 2 hits.
    InterProi IPR029522. GATA-2.
    IPR016374. TF_GATA-1/2/3.
    IPR000679. Znf_GATA.
    IPR013088. Znf_NHR/GATA.
    [Graphical view ]
    PANTHERi PTHR10071:SF149. PTHR10071:SF149. 1 hit.
    Pfami PF00320. GATA. 2 hits.
    [Graphical view ]
    PIRSFi PIRSF003027. TF_GATA-1/2/3. 1 hit.
    PRINTSi PR00619. GATAZNFINGER.
    SMARTi SM00401. ZnF_GATA. 2 hits.
    [Graphical view ]
    PROSITEi PS00344. GATA_ZN_FINGER_1. 2 hits.
    PS50114. GATA_ZN_FINGER_2. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning of the GATA-binding protein that regulates endothelin-1 gene expression in endothelial cells."
      Lee M.-E., Temizer D.T., Clifford J.A., Quertermous T.
      J. Biol. Chem. 266:16188-16192(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Human transcription factor GATA-2. Evidence for regulation of preproendothelin-1 gene expression in endothelial cells."
      Dorfman D.M., Wilson D.B., Bruns G.A.P., Orkin S.H.
      J. Biol. Chem. 267:1279-1285(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Endothelial cell.
    3. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT THR-164.
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT THR-164.
      Tissue: Placenta.
    5. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
      , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT THR-164.
      Tissue: Brain and Placenta.
    8. Cited for: VARIANTS IMD21 LEU-254; MET-354 AND TRP-398.
    9. Cited for: VARIANTS LMPM PRO-361 AND ARG-373.
    10. Cited for: VARIANTS MDS MET-354 AND THR-355 DEL.

    Entry informationi

    Entry nameiGATA2_HUMAN
    AccessioniPrimary (citable) accession number: P23769
    Secondary accession number(s): D3DNB3
    , Q53YE0, Q96BH0, Q96BH8, Q9BUJ6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1991
    Last sequence update: May 5, 2009
    Last modified: October 1, 2014
    This is version 138 of the entry and version 3 of the sequence. [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
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3