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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]
Enzymes ENZYME proteins Oxidoreductases SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0003677 [DNA binding] GO:0005515 [protein binding] GO:0006211 [5-methylcytosine catabolic process] GO:0006493 [protein O-linked glycosylation] GO:0007049 [cell cycle] GO:0008198 [ferrous iron binding] GO:0008270 [zinc ion binding] GO:0010467 [gene expression] GO:0030099 [myeloid cell differentiation] GO:0035511 [oxidative DNA demethylation] GO:0040029 [regulation of gene expression, epigenetic] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0070579 [methylcytosine dioxygenase activity] GO:0080111 [DNA demethylation] GO:0080182 [histone H3-K4 trimethylation]