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Malignant tissues showed weak to moderate nuclear and/or nucleolar staining. Occasional cases of malignant melanomas and colorectal cancers displayed strong positivity. The liver and renal cancers were negative.
GENE INFORMATION
Gene name
SETD2 (HGNC Symbol)
Synonyms
FLJ23184, HIF-1, HYPB, KIAA1732, KMT3A
Description
SET domain containing 2 (HGNC Symbol)
Entrez gene summary
Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 2008]
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Plasma proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations 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)