P23769 (GATA2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 124.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Endothelial transcription factor GATA-2 Alternative name(s): GATA-binding protein 2 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 480 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to the consensus sequence 5'-AGATAG-3'. |
| Subunit structure | Interacts with BRD3 By similarity. |
| Subcellular location | |
| Tissue specificity | Endothelial cells. |
| Involvement in disease | Dendritic cell monocyte lymphocyte B and natural killer lymphocyte deficiency (DCML) [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. 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. 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). |
| Sequence similarities | Contains 2 GATA-type zinc fingers. |
| Sequence caution | The sequence AAA35869.1 differs from that shown. Reason: Several sequencing errors. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| Lmo2 | P25801 | 3 | EBI-2806671,EBI-3903256 | From a different organism. |
| SMAD4 | Q13485 | 2 | EBI-2806671,EBI-347263 |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: 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. | ||||||
| Isoform 2 (identifier: P23769-2) The sequence of this isoform differs from the canonical sequence as follows: 340-353: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 480 | 480 | Endothelial transcription factor GATA-2 | PRO_0000083403 | |||||
Regions | |||||||||
| Zinc finger | 295 – 319 | 25 | GATA-type 1 | ||||||
| Zinc finger | 349 – 373 | 25 | GATA-type 2 | ||||||
Natural variations | |||||||||
| Alternative sequence | 340 – 353 | 14 | Missing in isoform 2. | VSP_041126 | |||||
| Natural variant | 164 | 1 | A → T. Ref.3 Ref.4 Ref.7 Corresponds to variant rs2335052 [ dbSNP | Ensembl ]. | VAR_055004 | |||||
| Natural variant | 235 | 1 | T → N. Corresponds to variant rs35079193 [ dbSNP | Ensembl ]. | VAR_055005 | |||||
| Natural variant | 254 | 1 | P → L in DCML. Ref.8 | VAR_066405 | |||||
| Natural variant | 354 | 1 | T → M in DCML and MDS. Ref.8 Ref.10 | VAR_066406 | |||||
| Natural variant | 355 | 1 | Missing in MDS. Ref.10 | VAR_066643 | |||||
| Natural variant | 361 | 1 | R → P in LMPM. Ref.9 | VAR_066644 | |||||
| Natural variant | 373 | 1 | C → R in LMPM. Ref.9 | VAR_066645 | |||||
| Natural variant | 398 | 1 | R → W in DCML. Ref.8 | VAR_066407 | |||||
Experimental info | |||||||||
| Sequence conflict | 9 | 1 | R → G in AAA35868. Ref.1 | ||||||
| Sequence conflict | 20 – 21 | 2 | QH → HD in AAA35868. Ref.1 | ||||||
| Sequence conflict | 38 – 39 | 2 | QL → HV in AAA35868. Ref.1 | ||||||
| Sequence conflict | 69 | 1 | R → A in AAA35868. Ref.1 | ||||||
| Sequence conflict | 82 | 1 | G → S in AAA35868. Ref.1 | ||||||
Sequences
| ||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [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. 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. Gibbs R.A.Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases 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] | "Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome." Hsu A.P., Sampaio E.P., Khan J., Calvo K.R., Lemieux J.E., Patel S.Y., Frucht D.M., Vinh D.C., Auth R.D., Freeman A.F., Olivier K.N., Uzel G., Zerbe C.S., Spalding C., Pittaluga S., Raffeld M., Kuhns D.B., Ding L. Holland S.M.Blood 118:2653-2655(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS DCML LEU-254; MET-354 AND TRP-398. |
| [9] | "Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)." Ostergaard P., Simpson M.A., Connell F.C., Steward C.G., Brice G., Woollard W.J., Dafou D., Kilo T., Smithson S., Lunt P., Murday V.A., Hodgson S., Keenan R., Pilz D.T., Martinez-Corral I., Makinen T., Mortimer P.S., Jeffery S., Trembath R.C., Mansour S. Nat. Genet. 43:929-931(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LMPM PRO-361 AND ARG-373. |
| [10] | "Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia." Hahn C.N., Chong C.E., Carmichael C.L., Wilkins E.J., Brautigan P.J., Li X.C., Babic M., Lin M., Carmagnac A., Lee Y.K., Kok C.H., Gagliardi L., Friend K.L., Ekert P.G., Butcher C.M., Brown A.L., Lewis I.D., To L.B. Scott H.S.Nat. Genet. 43:1012-1017(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MDS MET-354 AND THR-355 DEL. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | 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. |
| IPI | IPI00012900. IPI00794907. |
| PIR | A40815. A41782. |
| RefSeq | NP_001139133.1. NM_001145661.1. NP_001139134.1. NM_001145662.1. NP_116027.2. NM_032638.4. |
| UniGene | Hs.367725. |
3D structure databases | |
| ProteinModelPortal | P23769. |
| ModBase | Search... |
Protein-protein interaction databases | |
| DIP | DIP-29711N. |
| IntAct | P23769. 5 interactions. |
| STRING | 9606.ENSP00000345681. |
PTM databases | |
| PhosphoSite | P23769. |
Polymorphism databases | |
| DMDM | 229462971. |
Proteomic databases | |
| PaxDb | P23769. |
| PRIDE | P23769. |
Protocols and materials databases | |
| DNASU | 2624. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000341105; ENSP00000345681; ENSG00000179348. ENST00000430265; ENSP00000400259; ENSG00000179348. ENST00000487848; ENSP00000417074; ENSG00000179348. |
| GeneID | 2624. |
| KEGG | hsa:2624. |
| UCSC | uc003ekm.3. human. uc003ekn.3. human. |
Organism-specific databases | |
| CTD | 2624. |
| GeneCards | GC03M128198. |
| HGNC | HGNC:4171. GATA2. |
| HPA | CAB024847. HPA005633. |
| MIM | 137295. gene. 614038. phenotype. 614172. phenotype. 614286. phenotype. |
| neXtProt | NX_P23769. |
| Orphanet | 519. Acute myeloid leukemia. 3226. Deafness - lymphedema - leukemia. 228423. Monocytopenia with susceptibility to infections. 52688. Myelodysplastic syndromes. |
| PharmGKB | PA28585. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG5641. |
| HOGENOM | HOG000047701. |
| HOVERGEN | HBG051705. |
| InParanoid | P23769. |
| KO | K09182. |
| OMA | LAAMGTQ. |
| OrthoDB | EOG4S1T85. |
Enzyme and pathway databases | |
| Pathway_Interaction_DB | hif1_tfpathway. HIF-1-alpha transcription factor network. ar_tf_pathway. Regulation of Androgen receptor activity. hdac_classi_pathway. Signaling events mediated by HDAC Class I. hdac_classii_pathway. Signaling events mediated by HDAC Class II. |
| Reactome | REACT_604. Hemostasis. |
Gene expression databases | |
| ArrayExpress | P23769. |
| Bgee | P23769. |
| CleanEx | HS_GATA2. |
| Genevestigator | P23769. |
| GermOnline | ENSG00000179348. Homo sapiens. |
Family and domain databases | |
| Gene3D | 3.30.50.10. 2 hits. |
| InterPro | IPR016374. TF_GATA-1/2/3. IPR000679. Znf_GATA. IPR013088. Znf_NHR/GATA. [Graphical view] |
| Pfam | PF00320. GATA. 2 hits. [Graphical view] |
| PIRSF | PIRSF003027. TF_GATA-1/2/3. 1 hit. |
| PRINTS | PR00619. GATAZNFINGER. |
| SMART | SM00401. ZnF_GATA. 2 hits. [Graphical view] |
| PROSITE | PS00344. GATA_ZN_FINGER_1. 2 hits. PS50114. GATA_ZN_FINGER_2. 2 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | GATA2. human. |
| GenomeRNAi | 2624. |
| NextBio | 10335. |
| SOURCE | Search... |
Entry information
| Entry name | GATA2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P23769 Secondary accession number(s): D3DNB3 Q9BUJ6 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 3 Human chromosome 3: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
