Entrez gene ID | | 29072 |
Official gene symbol | | SETD2 |
Full name | | SET domain containing 2 |
Aliases | | ,FLJ16420,FLJ22472,FLJ23184,FLJ45883,FLJ46217,HBP231,HIF-1,HSPC069,HYPB,KIAA1732,KMT3A,SET2,p231HBP, |
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] |
Location | | Chromosome: 3 Locus: 3p21.31 |
Gene position | | 47205467 - 47057898 Map Viewer |
Gene orientation | | minus |
Gene size | | 147570 bp |
Gene sequence |
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OMIM ID | | 612778 |
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