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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
nuclear receptor binding SET domain protein 2MIM:602952Ensembl:ENSG00000109685HGNC:HGNC:12766PA373694p16.3

GO terms in NSD2


Term TypeEvidence TypeGO Term IDGO Des.
MFISAGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFISMGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFNASGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFIEAGO:0003682chromatin binding
MFIPIGO:0005515protein binding
MFTASGO:0018024histone-lysine N-methyltransferase activity
MFTASGO:0042799histone methyltransferase activity (H4-K20 specific)
MFIEAGO:0043565sequence-specific DNA binding
MFIEAGO:0046872metal ion binding
BPIEAGO:0000122negative regulation of transcription by RNA polymerase II
BPIEAGO:0003149membranous septum morphogenesis
BPIEAGO:0003289atrial septum primum morphogenesis
BPIEAGO:0003290atrial septum secundum morphogenesis
BPTASGO:0006303double-strand break repair via nonhomologous end joining
BPIEAGO:0006351transcription, DNA-templated
BPTASGO:0009653anatomical structure morphogenesis
BPIEAGO:0010452histone H3-K36 methylation
BPIEAGO:0034770histone H4-K20 methylation
BPIEAGO:0048298positive regulation of isotype switching to IgA isotypes
BPIEAGO:0060348bone development
BPIEAGO:0070201regulation of establishment of protein localization
BPIEAGO:2001032regulation of double-strand break repair via nonhomologous end joining
CCIDAGO:0005634nucleus
CCTASGO:0005654nucleoplasm
CCIEAGO:0005694chromosome
CCIEAGO:0005737cytoplasm

Gene expression in normal tissue: NSD2

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in NSD2


DatabasePathway IDPathway Des.
reactomeR-HSA-1640170Cell Cycle
reactomeR-HSA-3214841PKMTs methylate histone lysines
reactomeR-HSA-3247509Chromatin modifying enzymes
reactomeR-HSA-4839726Chromatin organization
reactomeR-HSA-5693532DNA Double-Strand Break Repair
reactomeR-HSA-5693538Homology Directed Repair
reactomeR-HSA-5693565Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
reactomeR-HSA-5693567HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)
reactomeR-HSA-5693571Nonhomologous End-Joining (NHEJ)
reactomeR-HSA-5693606DNA Double Strand Break Response
reactomeR-HSA-5693607Processing of DNA double-strand break ends
reactomeR-HSA-69473G2/M DNA damage checkpoint
reactomeR-HSA-69481G2/M Checkpoints
reactomeR-HSA-69620Cell Cycle Checkpoints
reactomeR-HSA-73894DNA Repair
kegghsa00310Lysine degradation - Homo sapiens (human)
kegghsa05202Transcriptional misregulation in cancer - Homo sapiens (human)
netpathPathway_AndrogenReceptorAndrogenReceptor

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD883CIL55A3
iGMDRD154NSC237663
iGMDRD945ML2145
iGMDRD123Isoevodiamine3
iGMDRD314Tanespimycin2
iGMDRD701NVP-AUY9223
iGMDRD405PIK-753
iGMDRD560MK-22062
iGMDRD512nutlin 34
iGMDRD584VER 1550082
iGMDRD84Lovastatin acid2
iGMDRD246NPC265
iGMDRD366PI-1033
iGMDRD662JQ-13
iGMDRD329Merck607
iGMDRD872BRD71372
iGMDRD882CIL412
iGMDRD286Nsc 6328393
iGMDRD434BMS-5369242
iGMDRD705Nakiterpiosin3
iGMDRD105Triptolide1
iGMDRD121GMX17781
iGMDRD251ML1624
iGMDRD280CYTOCHALASIN B1
iGMDRD394BX-7952
iGMDRD466Chaetocin3
iGMDRD297Austocystin D2
iGMDRD61Kinetin riboside1
iGMDRD152179324-69-74
iGMDRD193Fqi13
iGMDRD316N9-Isopropyl-olomoucine3
iGMDRD446LY 21832402
iGMDRD64Parbendazole3
iGMDRD60Quinoclamine7
iGMDRD562Navitoclax6
iGMDRD506Fedratinib6
iGMDRD577BIX012946
iGMDRD887Compound 23 citrate3
iGMDRD188Piperlongumine2
iGMDRD100Zebularine2
iGMDRD885Compound 1102
iGMDRD255SB2250026
iGMDRD138PX 125
iGMDRD474Avrainvillamide4
iGMDRD513BML-2591

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in NSD2

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