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P23769

- GATA2_HUMAN

UniProt

P23769 - GATA2_HUMAN

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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

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. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
  5. RNA polymerase II distal enhancer sequence-specific DNA binding Source: Ensembl
  6. sequence-specific DNA binding transcription factor activity Source: UniProtKB
  7. transcription factor binding Source: BHF-UCL
  8. 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. commitment of neuronal cell to specific neuron type in forebrain Source: Ensembl
  7. definitive hemopoiesis Source: Ensembl
  8. embryonic placenta development Source: Ensembl
  9. eosinophil fate commitment Source: BHF-UCL
  10. GABAergic neuron differentiation Source: Ensembl
  11. homeostasis of number of cells within a tissue Source: Ensembl
  12. inner ear morphogenesis Source: Ensembl
  13. negative regulation of fat cell differentiation Source: UniProtKB
  14. negative regulation of fat cell proliferation Source: UniProtKB
  15. negative regulation of macrophage differentiation Source: Ensembl
  16. negative regulation of neural precursor cell proliferation Source: MGI
  17. negative regulation of Notch signaling pathway Source: MGI
  18. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  19. phagocytosis Source: UniProtKB-KW
  20. pituitary gland development Source: Ensembl
  21. positive regulation of angiogenesis Source: MGI
  22. positive regulation of erythrocyte differentiation Source: Ensembl
  23. positive regulation of megakaryocyte differentiation Source: Ensembl
  24. positive regulation of phagocytosis Source: UniProtKB
  25. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  26. regulation of forebrain neuron differentiation Source: Ensembl
  27. regulation of histone acetylation Source: Ensembl
  28. semicircular canal development Source: Ensembl
  29. somatic stem cell maintenance Source: Ensembl
  30. transcription, DNA-templated Source: UniProtKB
  31. urogenital system development Source: Ensembl
  32. ventral spinal cord interneuron differentiation Source: Ensembl
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiP23769.
CleanExiHS_GATA2.
ExpressionAtlasiP23769. baseline and differential.
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. 19 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.
GeneTreeiENSGT00760000119221.
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

        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 AAA35869.1 differs from that shown. Reason: Several sequencing errors.Curated

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:
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.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:
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 .
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. 19 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.
GeneTreei ENSGT00760000119221.
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

Bgeei P23769.
CleanExi HS_GATA2.
ExpressionAtlasi P23769. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 140 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