SETD2 (Entrez ID: 29072)

Entrez Gene ID	29072
Official Gene Symbol	SETD2 (GeneCards)
Full name	SET domain containing 2
Location	3p21.31
Other ids	Vega : OTTHUMG00000133514 MIM : 612778 HGNC : HGNC:18420 Ensembl : ENSG00000181555
Other names	LLS, HYPB, SET2, HIF-1, HIP-1, KMT3A, HBP231, HSPC069, p231HBP
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]

Variants

Found 33 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
640	29072	SETD2	3	47144882	47144882	Autism Spectrum Disorders	HiSeq 2000
5274	29072	SETD2	3	47196084	47196084	Asymptomatic	HiSeq 2000 HiSeq X Ten
25294	29072	SETD2	3	47112785	47112785	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning
31244	29072	SETD2	3	47143021	47143021	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31245	29072	SETD2	3	47103720	47103720	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31246	29072	SETD2	3	47103720	47103720	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31247	29072	SETD2	3	47103729	47103729	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31248	29072	SETD2	3	47163401	47163401	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32783	29072	SETD2	3	47165029	47165029	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32784	29072	SETD2	3	47165667	47165667	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32785	29072	SETD2	3	47164245	47164245	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32786	29072	SETD2	3	47165859	47165859	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32787	29072	SETD2	3	47103653	47103653	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32788	29072	SETD2	3	47164810	47164810	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32789	29072	SETD2	3	47164342	47164342	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32790	29072	SETD2	3	47162715	47162715	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32791	29072	SETD2	3	47161946	47161946	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32792	29072	SETD2	3	47139545	47139545	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32793	29072	SETD2	3	47058605	47058605	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32794	29072	SETD2	3	47164739	47164739	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33873	29072	SETD2	3	47164756	47164756	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33874	29072	SETD2	3	47098367	47098367	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33875	29072	SETD2	3	47162530	47162530	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33876	29072	SETD2	3	47061328	47061329	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33877	29072	SETD2	3	47163561	47163561	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33878	29072	SETD2	3	47103707	47103707	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33879	29072	SETD2	3	47162682	47162682	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33880	29072	SETD2	3	47164277	47164277	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33881	29072	SETD2	3	47163026	47163026	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33882	29072	SETD2	3	47059129	47059129	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33883	29072	SETD2	3	47165353	47165353	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34205	29072	SETD2	3	47059217	47059217	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34206	29072	SETD2	3	47164660	47164660	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel