What is SRSF2 gene?
Serine/arginine-rich splicing factor 2 (SRSF2) is a member of the SR protein family that is involved in both constitutive and alternative mRNA splicing. Mutations in SRSF2 gene are frequently reported in myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML).
What is SRSF2 mutation?
SRSF2 is a gene encoding critical spliceosomal proteins. SRSF2 mutations appear to play an important role in pathogenesis of MMOS, particularly in chronic myelomonocytic leukemia. Inhibition of splicing may be a new therapeutic approach.
Where is SRSF2 located?
SFRS2
| SRSF2 | ||
|---|---|---|
| Location (UCSC) | Chr 17: 76.73 – 76.74 Mb | Chr 11: 116.85 – 116.85 Mb |
| PubMed search | ||
| Wikidata | ||
| View/Edit Human View/Edit Mouse |
What is TET2 mutation?
TET2 is a tumor supressor and mutations of the gene are seen in myeloid malignancies and other hematological disorders. The TET family of proteins play a role in DNA modification, through the oxidation of methyl-cytosine, and in normal and malignant development.
What causes TET2 mutation?
TET2 is widely affected by mutations in myeloid neoplasms, and is one of the most commonly mutated genes in CHIP [9,32,34]. Somatic TET2 mutations are present in approximately 50% of chronic myelomonocytic leukemia (CMML; an MDS/MPN) cases, ~30% of MDS, and ~10% of AML [8].
What does TET2 mean?
Tet methylcytosine dioxygenase 2 (TET2; also known as ten-eleven translocation 2) is a gene that codes for methylcytosine dioxygenase TET2, a protein involved in epigenetic regulation of myelopoeisis (Gene 2014; PMID: 24220273).
What is the function of TET2?
Function. TET2 encodes a protein that catalyzes the conversion of the modified DNA base methylcytosine to 5-hydroxymethylcytosine. The first mechanistic reports showed tissue-specific accumulation of 5-hydroxymethylcytosine (5hmC) and the conversion of 5mC to 5hmC by TET1 in humans in 2009.
What is IDH2 mutation?
The IDH2 gene mutations involved in CN-AML are called somatic mutations; they are found only in cells that become cancerous and are not inherited. These mutations change single protein building blocks (amino acids) in the isocitrate dehydrogenase 2 enzyme.
What does TET2 gene do?
TET2 has pleiotropic roles in hematopoiesis, including stem-cell self-renewal, lineage commitment and terminal differentiation of specific lineages. The TET2 gene is highly expressed in HSCs and in progenitor cells, and is downregulated with differentiation.
What is the DNMT3A gene?
The DNMT3A gene provides instructions for making an enzyme called DNA methyltransferase 3 alpha. This enzyme is involved in DNA methylation, which is the addition of methyl groups, consisting of one carbon atom and three hydrogen atoms, to DNA molecules.