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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for SETD2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID29072
Official gene symbolSETD2
Full nameSET domain containing 2
Aliases,FLJ16420,FLJ22472,FLJ23184,FLJ45883,FLJ46217,HBP231,HIF-1,HSPC069,HYPB,KIAA1732,KMT3A,SET2,p231HBP,
Gene summaryHuntington'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]
LocationChromosome: 3   Locus: 3p21.31
Gene position47205467 - 47057898  Map Viewer
Gene orientationminus
Gene size147570 bp
Gene sequence
OMIM ID612778