Details for: GATA2

Gene ID: 2624

Symbol: GATA2

Ensembl ID: ENSG00000179348

Description: GATA binding protein 2

Associated with

  • Developmental biology
    (R-HSA-1266738)
  • Factors involved in megakaryocyte development and platelet production
    (R-HSA-983231)
  • Gene expression (transcription)
    (R-HSA-74160)
  • Generic transcription pathway
    (R-HSA-212436)
  • Hemostasis
    (R-HSA-109582)
  • Rna polymerase ii transcription
    (R-HSA-73857)
  • Runx1 regulates transcription of genes involved in differentiation of hscs
    (R-HSA-8939236)
  • Transcriptional regulation by runx1
    (R-HSA-8878171)
  • Transcriptional regulation of granulopoiesis
    (R-HSA-9616222)
  • Brown fat cell differentiation
    (GO:0050873)
  • C2h2 zinc finger domain binding
    (GO:0070742)
  • Cell differentiation in hindbrain
    (GO:0021533)
  • Cell fate commitment
    (GO:0045165)
  • Cell fate determination
    (GO:0001709)
  • Central nervous system neuron development
    (GO:0021954)
  • Chromatin binding
    (GO:0003682)
  • Cochlea development
    (GO:0090102)
  • Commitment of neuronal cell to specific neuron type in forebrain
    (GO:0021902)
  • Cytoplasm
    (GO:0005737)
  • Definitive hemopoiesis
    (GO:0060216)
  • Dna-binding transcription activator activity, rna polymerase ii-specific
    (GO:0001228)
  • Dna-binding transcription factor activity
    (GO:0003700)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Embryonic placenta development
    (GO:0001892)
  • Eosinophil fate commitment
    (GO:0035854)
  • Fat cell differentiation
    (GO:0045444)
  • Gabaergic neuron differentiation
    (GO:0097154)
  • Glandular epithelial cell maturation
    (GO:0002071)
  • Hematopoietic progenitor cell differentiation
    (GO:0002244)
  • Hematopoietic stem cell homeostasis
    (GO:0061484)
  • Homeostasis of number of cells within a tissue
    (GO:0048873)
  • Inner ear morphogenesis
    (GO:0042472)
  • Negative regulation of brown fat cell differentiation
    (GO:1903444)
  • Negative regulation of endothelial cell apoptotic process
    (GO:2000352)
  • Negative regulation of gene expression
    (GO:0010629)
  • Negative regulation of hematopoietic progenitor cell differentiation
    (GO:1901533)
  • Negative regulation of macrophage differentiation
    (GO:0045650)
  • Negative regulation of neural precursor cell proliferation
    (GO:2000178)
  • Negative regulation of neuroblast proliferation
    (GO:0007406)
  • Negative regulation of notch signaling pathway
    (GO:0045746)
  • Negative regulation of transcription by rna polymerase ii
    (GO:0000122)
  • Neuroblast proliferation
    (GO:0007405)
  • Neuron maturation
    (GO:0042551)
  • Neuron migration
    (GO:0001764)
  • Nucleoplasm
    (GO:0005654)
  • Nucleus
    (GO:0005634)
  • Phagocytosis
    (GO:0006909)
  • Positive regulation of angiogenesis
    (GO:0045766)
  • Positive regulation of blood vessel endothelial cell migration
    (GO:0043536)
  • Positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis
    (GO:1903589)
  • Positive regulation of cell migration involved in sprouting angiogenesis
    (GO:0090050)
  • Positive regulation of cytosolic calcium ion concentration
    (GO:0007204)
  • Positive regulation of erythrocyte differentiation
    (GO:0045648)
  • Positive regulation of gene expression
    (GO:0010628)
  • Positive regulation of mast cell degranulation
    (GO:0043306)
  • Positive regulation of megakaryocyte differentiation
    (GO:0045654)
  • Positive regulation of mirna transcription
    (GO:1902895)
  • Positive regulation of neuron differentiation
    (GO:0045666)
  • Positive regulation of phagocytosis
    (GO:0050766)
  • Positive regulation of phagocytosis, engulfment
    (GO:0060100)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Protein binding
    (GO:0005515)
  • Regulation of forebrain neuron differentiation
    (GO:2000977)
  • Regulation of primitive erythrocyte differentiation
    (GO:0010725)
  • Response to lipid
    (GO:0033993)
  • Rna polymerase ii-specific dna-binding transcription factor binding
    (GO:0061629)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • Semicircular canal development
    (GO:0060872)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)
  • Somatic stem cell population maintenance
    (GO:0035019)
  • Thyroid-stimulating hormone-secreting cell differentiation
    (GO:0060129)
  • Transcription by rna polymerase ii
    (GO:0006366)
  • Transcription coactivator binding
    (GO:0001223)
  • Transcription coregulator binding
    (GO:0001221)
  • Transcription regulator complex
    (GO:0005667)
  • Urogenital system development
    (GO:0001655)
  • Vascular wound healing
    (GO:0061042)
  • Ventral spinal cord interneuron differentiation
    (GO:0021514)
  • Zinc ion binding
    (GO:0008270)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 75.6050
    Cell Significance Index: -11.7600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 22.1177
    Cell Significance Index: -5.6100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 21.1935
    Cell Significance Index: -8.6100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 9.7570
    Cell Significance Index: -12.0300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 3.2287
    Cell Significance Index: 86.2100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 2.2661
    Cell Significance Index: 118.0400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.8892
    Cell Significance Index: 98.1400
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 1.7106
    Cell Significance Index: 6.5500
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.5846
    Cell Significance Index: 18.4200
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 1.3857
    Cell Significance Index: 8.6100
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 1.3199
    Cell Significance Index: 12.1600
  • Cell Name: megakaryocyte progenitor cell (CL0000553)
    Fold Change: 0.8138
    Cell Significance Index: 5.8500
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.6435
    Cell Significance Index: 3.9700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.6431
    Cell Significance Index: 79.0800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.6158
    Cell Significance Index: 111.0100
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.5404
    Cell Significance Index: 9.5500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.5314
    Cell Significance Index: 14.4700
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.5236
    Cell Significance Index: 7.5300
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 0.4785
    Cell Significance Index: 2.8300
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.4102
    Cell Significance Index: 4.6600
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.2155
    Cell Significance Index: 2.2300
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 0.1142
    Cell Significance Index: 0.6900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0856
    Cell Significance Index: 14.6200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0535
    Cell Significance Index: 33.4300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0144
    Cell Significance Index: 7.8700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.0127
    Cell Significance Index: 0.3400
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.0032
    Cell Significance Index: 0.0300
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.0023
    Cell Significance Index: 0.0200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0020
    Cell Significance Index: -0.2700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0058
    Cell Significance Index: -10.9500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0072
    Cell Significance Index: -5.3000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0079
    Cell Significance Index: -4.4600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0086
    Cell Significance Index: -13.2600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0098
    Cell Significance Index: -13.3300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0120
    Cell Significance Index: -9.0800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0131
    Cell Significance Index: -2.7600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0141
    Cell Significance Index: -10.3700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0163
    Cell Significance Index: -10.3700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0211
    Cell Significance Index: -2.7100
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.0226
    Cell Significance Index: -0.3500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0226
    Cell Significance Index: -10.2700
  • Cell Name: basophil mast progenitor cell (CL0002028)
    Fold Change: -0.0237
    Cell Significance Index: -0.2000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0268
    Cell Significance Index: -7.7100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0332
    Cell Significance Index: -3.8000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0339
    Cell Significance Index: -12.1700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0546
    Cell Significance Index: -10.8400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0587
    Cell Significance Index: -6.0000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0591
    Cell Significance Index: -11.8500
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: -0.0624
    Cell Significance Index: -0.6600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0647
    Cell Significance Index: -3.2700
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: -0.0703
    Cell Significance Index: -0.4400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0729
    Cell Significance Index: -10.5900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0781
    Cell Significance Index: -8.9200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0904
    Cell Significance Index: -11.6800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1001
    Cell Significance Index: -11.6700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1008
    Cell Significance Index: -11.8900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1097
    Cell Significance Index: -11.4200
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.1134
    Cell Significance Index: -4.9300
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: -0.1319
    Cell Significance Index: -1.8300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1326
    Cell Significance Index: -10.5000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1422
    Cell Significance Index: -10.9100
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1448
    Cell Significance Index: -5.9400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1465
    Cell Significance Index: -10.9200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1705
    Cell Significance Index: -11.0000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1739
    Cell Significance Index: -8.1100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1873
    Cell Significance Index: -5.2400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1917
    Cell Significance Index: -12.8900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1933
    Cell Significance Index: -11.8800
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: -0.1943
    Cell Significance Index: -2.6600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1960
    Cell Significance Index: -6.8100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2083
    Cell Significance Index: -12.7700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2117
    Cell Significance Index: -11.8800
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.2187
    Cell Significance Index: -3.4700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2202
    Cell Significance Index: -5.6600
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.2234
    Cell Significance Index: -5.5700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2271
    Cell Significance Index: -10.6800
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.2333
    Cell Significance Index: -5.6500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2411
    Cell Significance Index: -12.6600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.2590
    Cell Significance Index: -11.7400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.2651
    Cell Significance Index: -5.5500
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2800
    Cell Significance Index: -10.2800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2833
    Cell Significance Index: -12.5300
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: -0.3050
    Cell Significance Index: -2.7800
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.3224
    Cell Significance Index: -2.7400
  • Cell Name: trophoblast giant cell (CL0002488)
    Fold Change: -0.3248
    Cell Significance Index: -2.3400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3319
    Cell Significance Index: -12.5700
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3354
    Cell Significance Index: -9.8800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.3449
    Cell Significance Index: -9.2400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3517
    Cell Significance Index: -12.3200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3569
    Cell Significance Index: -10.2300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.3628
    Cell Significance Index: -12.7500
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.3631
    Cell Significance Index: -5.0900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3632
    Cell Significance Index: -11.8900
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: -0.3669
    Cell Significance Index: -4.5100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.3707
    Cell Significance Index: -6.3500
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.3729
    Cell Significance Index: -5.3400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3764
    Cell Significance Index: -12.0600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3834
    Cell Significance Index: -12.2100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.3912
    Cell Significance Index: -11.4900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.3917
    Cell Significance Index: -10.3000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** GATA2 is a transcription factor that belongs to the GATA family, which is characterized by the presence of a C2H2 zinc finger domain. This domain allows GATA2 to bind to specific DNA sequences, thereby regulating gene expression. GATA2 is a multifunctional protein that can act as both a transcription activator and repressor, depending on the context. Its expression is widespread, with significant levels found in hematopoietic stem cells, endothelial cells, and neural cells. **Pathways and Functions:** GATA2 is involved in various biological pathways, including: 1. **Cell differentiation:** GATA2 regulates the differentiation of hematopoietic stem cells, endothelial cells, and neural cells, ensuring proper cell fate commitment and development. 2. **Gene expression:** GATA2 controls the expression of genes involved in cell differentiation, development, and homeostasis, including genes involved in angiogenesis, hematopoiesis, and neural development. 3. **Transcriptional regulation:** GATA2 interacts with other transcription factors, such as Runx1, to regulate gene expression and cell fate determination. 4. **Angiogenesis:** GATA2 promotes angiogenesis by regulating the expression of genes involved in endothelial cell migration, proliferation, and differentiation. 5. **Hematopoiesis:** GATA2 is involved in the regulation of hematopoietic stem cell differentiation, proliferation, and homeostasis. **Clinical Significance:** GATA2's involvement in various biological processes makes it a significant player in disease development. Mutations or dysregulation of GATA2 have been implicated in: 1. **Hematological malignancies:** GATA2 mutations have been associated with certain types of leukemia, such as acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL). 2. **Neurological disorders:** GATA2 dysregulation has been linked to neurodevelopmental disorders, such as autism spectrum disorder and schizophrenia. 3. **Angiogenesis-related diseases:** GATA2's role in angiogenesis makes it a potential therapeutic target for diseases related to abnormal blood vessel formation, such as cancer and cardiovascular disease. In conclusion, GATA2 is a multifaceted transcription factor that plays a critical role in various biological processes, including cell differentiation, development, and disease. Its dysregulation has been implicated in various clinical disorders, highlighting the importance of further research into the mechanisms and therapeutic potential of GATA2.

Genular Protein ID: 4041311595

Symbol: GATA2_HUMAN

Name: Endothelial transcription factor GATA-2

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 1714909

Title: Cloning of the GATA-binding protein that regulates endothelin-1 gene expression in endothelial cells.

PubMed ID: 1714909

DOI: 10.1016/s0021-9258(18)98533-9

PubMed ID: 1370462

Title: Human transcription factor GATA-2. Evidence for regulation of preproendothelin-1 gene expression in endothelial cells.

PubMed ID: 1370462

DOI: 10.1016/s0021-9258(18)48426-8

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 23887938

Title: CCAR1 promotes chromatin loading of androgen receptor (AR) transcription complex by stabilizing the association between AR and GATA2.

PubMed ID: 23887938

DOI: 10.1093/nar/gkt644

PubMed ID: 24129315

Title: Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.

PubMed ID: 24129315

DOI: 10.1074/mcp.o113.027870

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 21670465

Title: Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

PubMed ID: 21670465

DOI: 10.1182/blood-2011-05-356352

PubMed ID: 21892158

Title: Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).

PubMed ID: 21892158

DOI: 10.1038/ng.923

PubMed ID: 21892162

Title: Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.

PubMed ID: 21892162

DOI: 10.1038/ng.913

Sequence Information:

  • Length: 480
  • Mass: 50500
  • Checksum: C879CC932C355E6A
  • Sequence:
  • MEVAPEQPRW MAHPAVLNAQ HPDSHHPGLA HNYMEPAQLL PPDEVDVFFN HLDSQGNPYY 
    ANPAHARARV SYSPAHARLT GGQMCRPHLL HSPGLPWLDG GKAALSAAAA HHHNPWTVSP 
    FSKTPLHPSA AGGPGGPLSV YPGAGGGSGG GSGSSVASLT PTAAHSGSHL FGFPPTPPKE 
    VSPDPSTTGA ASPASSSAGG SAARGEDKDG VKYQVSLTES MKMESGSPLR PGLATMGTQP 
    ATHHPIPTYP SYVPAAAHDY SSGLFHPGGF LGGPASSFTP KQRSKARSCS EGRECVNCGA 
    TATPLWRRDG TGHYLCNACG LYHKMNGQNR PLIKPKRRLS AARRAGTCCA NCQTTTTTLW 
    RRNANGDPVC NACGLYYKLH NVNRPLTMKK EGIQTRNRKM SNKSKKSKKG AECFEELSKC 
    MQEKSSPFSA AALAGHMAPV GHLPPFSHSG HILPTPTPIH PSSSLSFGHP HPSSMVTAMG

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.