{"symbol":"SETD2","synonyms":["HIP-1","P231HBP","HBP231","HSPC069","KMT3A","LLS","HYPB","HIF-1","SET2"],"name":"SET domain containing 2","description":"Huntington\u0027s 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]","ncbiEntrezGeneId":29072,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/29072","proteins":[{"symbol":"SETD2_HUMAN","href":"/api/1.0/protein/SETD2_HUMAN"}],"hgncRootFamilies":[{"name":"Chromatin-modifying enzymes","href":"/api/1.0/gene_family/Chromatin-modifying+enzymes"}]}