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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| SET domain containing 2 | MIM:612778 | Ensembl:ENSG00000181555 | HGNC:HGNC:18420 | PA143485612 | 3p21.31 |
GO terms in SETD2
| 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 |
| BP | IMP | GO:0006298 | mismatch repair |
| BP | IEA | GO:0006355 | regulation of transcription, DNA-templated |
| BP | IMP | GO:0006368 | transcription elongation from RNA polymerase II promoter |
| BP | IDA | GO:0010569 | regulation of double-strand break repair via homologous recombination |
| BP | IMP | GO:0010793 | regulation of mRNA export from nucleus |
| BP | IDA | GO:0018023 | peptidyl-lysine trimethylation |
| BP | IDA | GO:0018026 | peptidyl-lysine monomethylation |
| BP | IEA | GO:0030900 | forebrain development |
| BP | IDA | GO:0032465 | regulation of cytokinesis |
| BP | IDA | GO:0032727 | positive regulation of interferon-alpha production |
| BP | IDA | GO:0034340 | response to type I interferon |
| BP | IMP | GO:0034728 | nucleosome organization |
| BP | IEA | GO:0035441 | cell migration involved in vasculogenesis |
| BP | ISS | GO:0035987 | endodermal cell differentiation |
| BP | IEA | GO:0048332 | mesoderm morphogenesis |
| BP | IEA | GO:0048701 | embryonic cranial skeleton morphogenesis |
| BP | ISS | GO:0048863 | stem cell differentiation |
| BP | IEA | GO:0048864 | stem cell development |
| BP | IDA | GO:0051607 | defense response to virus |
| BP | IEA | GO:0060039 | pericardium development |
| BP | IEA | GO:0060669 | embryonic placenta morphogenesis |
| BP | IEA | GO:0060977 | coronary vasculature morphogenesis |
| BP | IDA | GO:0097198 | histone H3-K36 trimethylation |
| BP | IMP | GO:0097198 | histone H3-K36 trimethylation |
| BP | IDA | GO:0097676 | histone H3-K36 dimethylation |
| BP | IDA | GO:1902850 | microtubule cytoskeleton organization involved in mitosis |
| BP | IDA | GO:1905634 | regulation of protein localization to chromatin |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0016279 | protein-lysine N-methyltransferase activity |
| MF | IDA | GO:0018024 | histone-lysine N-methyltransferase activity |
| MF | IMP | GO:0018024 | histone-lysine N-methyltransferase activity |
| MF | TAS | GO:0018024 | histone-lysine N-methyltransferase activity |
| MF | IDA | GO:0043014 | alpha-tubulin binding |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IDA | GO:0046975 | histone methyltransferase activity (H3-K36 specific) |
Gene expression in normal tissue: SETD2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SETD2
| 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 |
| wikipathways | WP4018 | Pathways in clear cell renal cell carcinoma |
| wikipathways | WP4241 | Type 2 papillary renal cell carcinoma |
| kegg | hsa00310 | Lysine degradation - Homo sapiens (human) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD504 | Obatoclax | 1 |
| iGMDRD587 | CHEMBL585951 | 1 |
| iGMDRD135 | Lenalidomide | 1 |
| iGMDRD531 | AZD2281 | 1 |
| iGMDRD203 | STF-31 | 1 |
| iGMDRD387 | CHIR-99021 | 1 |
| iGMDRD776 | QL-XI-92 | 1 |
| iGMDRD371 | THR1 Inhibitor | 1 |
| iGMDRD190 | Nilotinib | 1 |
| iGMDRD179 | Shikonin | 1 |
| iGMDRD245 | FH535 | 1 |
| iGMDRD1033 | WEE1 inhibitor | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SETD2
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.