SETD2

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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
NameSET domain containing 2
OMIM IDMIM:612778
Ensembl IDEnsembl:ENSG00000181555
HGNC IDHGNC:HGNC:18420
PHARMGKB IDPA143485612
Map Location3p21.31

GO terms in SETD2


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Term Type
Evidence Type
GO Term ID
GO Des.
CC ISS GO:0005634 nucleus
CC TAS GO:0005654 nucleoplasm
CC ISS GO:0005694 chromosome
BP IEA GO:0001525 angiogenesis
BP IEA GO:0001763 morphogenesis of a branching structure
BP IEA GO:0001843 neural tube closure
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Gene expression in normal tissue: SETD2

Gene-model tissue-cancer distribution: Bubble Plot

BOWEtissue: BOWE cancer: BOWEL model num: 0BOWELtissue: BOWEL cancer: undefined model num: 3BREAStissue: BREAS cancer: BREAST model num: 0BREASTtissue: BREAST cancer: undefined model num: 1KIDNEtissue: KIDNE cancer: KIDNEY model num: 0KIDNEYtissue: KIDNEY cancer: Renal Clear Cell Carcinoma (CCRCC) model num: 1BRAItissue: BRAI cancer: BRAIN model num: 0BRAINtissue: BRAIN cancer: Low-Grade Glioma, NOS (LGGNOS) model num: 1undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 5OTHEtissue: OTHE cancer: OTHER model num: 0OTHERtissue: OTHER cancer: Cancer of Unknown Primary (CUP) model num: 3

Gene-drug pathway distribution

Pathways in SETD2


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Database
Pathway ID
Pathway Des.
reactome R-HSA-3214841 PKMTs methylate histone lysines
reactome R-HSA-3247509 Chromatin modifying enzymes
reactome R-HSA-4839726 Chromatin organization
wikipathways WP2369 Histone Modifications
wikipathways WP2857 Mesodermal Commitment Pathway
wikipathways WP3651 Pathways Affected in Adenoid Cystic Carcinoma
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD504 Obatoclax 1
iGMDRD587 CHEMBL585951 1
iGMDRD135 Lenalidomide 1
iGMDRD531 AZD2281 1
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in SETD2

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
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