What does the GATA2 gene do?

Genetics and Function The GATA2 gene produces a protein called a transcription factor. Transcription factors regulate when other genes are turned on. The GATA2 transcription factor helps regu- late blood cell differentiation, the process by which blood stem cells give rise to special- ized types of blood cells.

What chromosome is GATA2 in?

chromosome 3
The human GATA2 gene is located on the long (or “q”) arm of chromosome 3 at position 21.3 (i.e. the 3q21. 3 locus) and consists of 8 exons. Two sites, termed C-ZnF and N-ZnF, of the gene code for two Zinc finger structural motifs of the GATA2 transcription factor.

What does GATA4 stand for?

GATA Binding Protein 4
GATA4 (GATA Binding Protein 4) is a Protein Coding gene. Diseases associated with GATA4 include Testicular Anomalies With Or Without Congenital Heart Disease and Atrial Septal Defect 2.

What cells express GATA2?

Wieser et al. (2000) determined that most breakpoints at chromosome 3q21 associated with myeloid leukemia are located in the presumptive GATA2 regulatory region. They found that GATA2 was overexpressed in established leukemia cell lines and in 7 of 9 leukemia patient samples showing chromosome 3q21 aberrations.

What is RUNX1 mutation?

RUNX1 is a recurrently mutated gene in sporadic myelodysplastic syndrome and leukemia. Inherited mutations in RUNX1 cause familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML). In sporadic AML, mutations in RUNX1 are usually secondary events, whereas in FPD/AML they are initiating events.

What does GATA3 stand for?

GATA3 binding protein, commonly and from here on abbreviated as GATA3, is a transcription factor of the GATA family. These nuclear proteins recognize G-A-T-A nucleotide sequences in target gene promoters and activate or repress those genes.

What protein does Gata4 produce?

Data show that the combination of GATA binding protein 4 (Gata4), T-box transcription factor 5 (Tbx5) and BRG1-associated factor 60C protein (Baf60c) is sufficient for inducing adipose tissue-derived mesenchymal stem cells (ADMSCs) to form cardiomyocytes.

What kind of protein does Gata4 gene produce?

Transcription factor GATA-4
Transcription factor GATA-4 is a protein that in humans is encoded by the GATA4 gene….GATA4.

RNA expression pattern
BioGPS More reference expression data

What is ASXL1 mutation?

ASXL1 mutations are frameshift and nonsense mutations that are supposed to result in C-terminal truncation of the protein upstream of the PHD finger (Figure 1). The functional relevance of some reported missense mutations is not clear.

How common is RUNX1?

The RUNX1/CBF β (CBFB) transcription factor complex is essential for normal hematopoiesis. The two most common chromosomal rearrangements in de novo AML are the t(8;21)(q22;q22) and inv(16)/t(16;16), found in approximately 12% and 6% of cases, respectively.

What does tumor cells positive for GATA3 mean?

Gene expression profiling has shown that GATA-3 is highly expressed in the Luminal A subtype of breast cancer. A recent study found GATA-3 to be associated with favorable breast cancer pathologic features, including negative lymph node and positive estrogen receptor (ER) status.

What does grade 3 invasive ductal carcinoma mean?

A low grade number (grade 1) usually means the cancer is slower-growing and less likely to spread. A high grade number (grade 3) means a faster-growing cancer that’s more likely to spread.

Where are zinc fingers found?

The canonical members of this class contain a binuclear zinc cluster in which two zinc ions are bound by six cysteine residues. These zinc fingers can be found in several transcription factors including the yeast Gal4 protein.

What is nfat2?

The Nuclear Factor of Activated T Cells (Nfat) Transcription Factor Nfatp (Nfatc2) Is a Repressor of Chondrogenesis – PMC. An official website of the United States government.

What does ASXL1 stand for?

ASXL Transcriptional Regulator 1
ASXL1 (ASXL Transcriptional Regulator 1) is a Protein Coding gene. Diseases associated with ASXL1 include Bohring-Opitz Syndrome and Myelodysplastic Syndrome.

Does everyone have the TP53 gene?

Everyone has two copies of the TP53 gene, which we randomly inherit from each of our parents. Mutations in one copy of the TP53 gene can increase the chance for you to develop certain types of cancer in your lifetime.

Is RUNX1 inherited?

The RUNX1 gene was previously known as AML1 or CBFA2. FPD/AML is an inherited disorder, meaning that the mutated RUNX1 gene is passed down (inherited) from an affected parent such that patients with FPD/AML are born with the abnormal gene.

What is GATA3 a marker for?

GATA3 is a useful marker in characterization not only mammary and urothelial but also for renal and germ cell tumors, mesotheliomas, and paragangliomas. The multiple specificities of GATA3 should be taken into account when using this marker to detect metastatic mammary or urothelial carcinomas.