NSD2
Summary: This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| nuclear receptor binding SET domain protein 2 | MIM:602952 | Ensembl:ENSG00000109685 | HGNC:HGNC:12766 | PA37369 | 4p16.3 |
GO terms in NSD2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IEA | GO:0003682 | chromatin binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | TAS | GO:0018024 | histone-lysine N-methyltransferase activity |
| MF | TAS | GO:0042799 | histone methyltransferase activity (H4-K20 specific) |
| MF | IEA | GO:0043565 | sequence-specific DNA binding |
| MF | IEA | GO:0046872 | metal ion binding |
| BP | IEA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0003149 | membranous septum morphogenesis |
| BP | IEA | GO:0003289 | atrial septum primum morphogenesis |
| BP | IEA | GO:0003290 | atrial septum secundum morphogenesis |
| BP | TAS | GO:0006303 | double-strand break repair via nonhomologous end joining |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | TAS | GO:0009653 | anatomical structure morphogenesis |
| BP | IEA | GO:0010452 | histone H3-K36 methylation |
| BP | IEA | GO:0034770 | histone H4-K20 methylation |
| BP | IEA | GO:0048298 | positive regulation of isotype switching to IgA isotypes |
| BP | IEA | GO:0060348 | bone development |
| BP | IEA | GO:0070201 | regulation of establishment of protein localization |
| BP | IEA | GO:2001032 | regulation of double-strand break repair via nonhomologous end joining |
| CC | IDA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0005694 | chromosome |
| CC | IEA | GO:0005737 | cytoplasm |
Gene expression in normal tissue: NSD2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in NSD2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-3214841 | PKMTs methylate histone lysines |
| reactome | R-HSA-3247509 | Chromatin modifying enzymes |
| reactome | R-HSA-4839726 | Chromatin organization |
| reactome | R-HSA-5693532 | DNA Double-Strand Break Repair |
| reactome | R-HSA-5693538 | Homology Directed Repair |
| reactome | R-HSA-5693565 | Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks |
| reactome | R-HSA-5693567 | HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) |
| reactome | R-HSA-5693571 | Nonhomologous End-Joining (NHEJ) |
| reactome | R-HSA-5693606 | DNA Double Strand Break Response |
| reactome | R-HSA-5693607 | Processing of DNA double-strand break ends |
| reactome | R-HSA-69473 | G2/M DNA damage checkpoint |
| reactome | R-HSA-69481 | G2/M Checkpoints |
| reactome | R-HSA-69620 | Cell Cycle Checkpoints |
| reactome | R-HSA-73894 | DNA Repair |
| kegg | hsa00310 | Lysine degradation - Homo sapiens (human) |
| kegg | hsa05202 | Transcriptional misregulation in cancer - Homo sapiens (human) |
| netpath | Pathway_AndrogenReceptor | AndrogenReceptor |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD883 | CIL55A | 3 |
| iGMDRD154 | NSC23766 | 3 |
| iGMDRD945 | ML214 | 5 |
| iGMDRD123 | Isoevodiamine | 3 |
| iGMDRD314 | Tanespimycin | 2 |
| iGMDRD701 | NVP-AUY922 | 3 |
| iGMDRD405 | PIK-75 | 3 |
| iGMDRD560 | MK-2206 | 2 |
| iGMDRD512 | nutlin 3 | 4 |
| iGMDRD584 | VER 155008 | 2 |
| iGMDRD84 | Lovastatin acid | 2 |
| iGMDRD246 | NPC26 | 5 |
| iGMDRD366 | PI-103 | 3 |
| iGMDRD662 | JQ-1 | 3 |
| iGMDRD329 | Merck60 | 7 |
| iGMDRD872 | BRD7137 | 2 |
| iGMDRD882 | CIL41 | 2 |
| iGMDRD286 | Nsc 632839 | 3 |
| iGMDRD434 | BMS-536924 | 2 |
| iGMDRD705 | Nakiterpiosin | 3 |
| iGMDRD105 | Triptolide | 1 |
| iGMDRD121 | GMX1778 | 1 |
| iGMDRD251 | ML162 | 4 |
| iGMDRD280 | CYTOCHALASIN B | 1 |
| iGMDRD394 | BX-795 | 2 |
| iGMDRD466 | Chaetocin | 3 |
| iGMDRD297 | Austocystin D | 2 |
| iGMDRD61 | Kinetin riboside | 1 |
| iGMDRD152 | 179324-69-7 | 4 |
| iGMDRD193 | Fqi1 | 3 |
| iGMDRD316 | N9-Isopropyl-olomoucine | 3 |
| iGMDRD446 | LY 2183240 | 2 |
| iGMDRD64 | Parbendazole | 3 |
| iGMDRD60 | Quinoclamine | 7 |
| iGMDRD562 | Navitoclax | 6 |
| iGMDRD506 | Fedratinib | 6 |
| iGMDRD577 | BIX01294 | 6 |
| iGMDRD887 | Compound 23 citrate | 3 |
| iGMDRD188 | Piperlongumine | 2 |
| iGMDRD100 | Zebularine | 2 |
| iGMDRD885 | Compound 110 | 2 |
| iGMDRD255 | SB225002 | 6 |
| iGMDRD138 | PX 12 | 5 |
| iGMDRD474 | Avrainvillamide | 4 |
| iGMDRD513 | BML-259 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in NSD2
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