NP_001120680.1
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
133,481 Da
NCBI Official Full Name
methylcytosine dioxygenase TET2 isoform a
NCBI Official Synonym Full Names
tet methylcytosine dioxygenase 2
NCBI Protein Information
methylcytosine dioxygenase TET2
UniProt Protein Name
Methylcytosine dioxygenase TET2
UniProt Synonym Gene Names
UniProt Entry Name
TET2_HUMAN
NCBI Summary for TET2
The protein encoded by this gene is a methylcytosine dioxygenase that catalyzes the conversion of methylcytosine to 5-hydroxymethylcytosine. The encoded protein is involved in myelopoiesis, and defects in this gene have been associated with several myeloproliferative disorders. Two variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
UniProt Comments for TET2
TET2: Catalyzes the conversion of methylcytosine (5mC) to 5- hydroxymethylcytosine (hmC). Plays an important role in myelopoiesis. The clear function of 5-hydroxymethylcytosine (hmC) is still unclear but it may influence chromatin structure and recruit specific factors or may constitute an intermediate component in cytosine demethylation. TET2 is frequently mutated in myeloproliferative disorders (MPD). These constitute a heterogeneous group of disorders, also known as myeloproliferative diseases or myeloproliferative neoplasms (MPN), characterized by cellular proliferation of one or more hematologic cell lines in the peripheral blood, distinct from acute leukemia. Included diseases are: essential thrombocythemia, polycythemia vera, primary myelofibrosis (chronic idiopathic myelofibrosis). Bone marrow samples from patients display uniformly low levels of hmC in genomic DNA compared to bone marrow samples from healthy controls as well as hypomethylation relative to controls at the majority of differentially methylated CpG sites. Defects in TET2 are a cause of polycythemia vera (PV). A myeloproliferative disorder characterized by abnormal proliferation of all hematopoietic bone marrow elements, erythroid hyperplasia, an absolute increase in total blood volume, but also by myeloid leukocytosis, thrombocytosis and splenomegaly. TET2 is frequently mutated in systemic mastocytosis; also known as systemic mast cell disease. A condition with features in common with myeloproliferative diseases. It is a clonal disorder of the mast cell and its precursor cells. The clinical symptoms and signs of systemic mastocytosis are due to accumulation of clonally derived mast cells in different tissues, including bone marrow, skin, the gastrointestinal tract, the liver, and the spleen. Defects in TET2 are a cause of myelodysplastic syndrome (MDS). 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. Myelodysplastic syndromes are considered a premalignant condition in a subgroup of patients that often progresses to acute myeloid leukemia (AML). Bone marrow samples from patients display uniformly low levels of hmC in genomic DNA compared to bone marrow samples from healthy controls as well as hypomethylation relative to controls at the majority of differentially methylated CpG sites. Belongs to the TET family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Oxidoreductase; Tumor suppressor; EC 1.14.11.n2
Chromosomal Location of Human Ortholog: 4q24
Molecular Function: DNA binding; ferrous iron binding; protein binding; zinc ion binding
Biological Process: 5-methylcytosine catabolic process; cell cycle; cytosine metabolic process; hemoglobin metabolic process; kidney development; myeloid cell differentiation; myeloid progenitor cell differentiation; positive regulation of transcription from RNA polymerase II promoter; post-embryonic development; protein amino acid O-linked glycosylation; response to organic cyclic substance; spleen development
Disease: Myelodysplastic Syndrome
Research Articles on TET2
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated withanti-TET2 antibody
Pathways associated with anti-TET2 antibody
Diseases associated with anti-TET2 antibody
Organs/Tissues associated with anti-TET2 antibody
|