Details for: NSD2

Gene ID: 7468

Symbol: NSD2

Ensembl ID: ENSG00000109685

Description: nuclear receptor binding SET domain protein 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 96.2462
    Cell Significance Index: -45.4400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 88.8354
    Cell Significance Index: -36.0900
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 67.5388
    Cell Significance Index: -45.3200
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 38.0417
    Cell Significance Index: -36.3200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 16.2308
    Cell Significance Index: -43.4800
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 12.7659
    Cell Significance Index: -39.2100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 7.3700
    Cell Significance Index: -16.1300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 3.7414
    Cell Significance Index: 209.9500
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 2.6892
    Cell Significance Index: 40.3000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 2.5037
    Cell Significance Index: 69.9700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.4062
    Cell Significance Index: 477.5200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.2115
    Cell Significance Index: 443.6200
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 2.1172
    Cell Significance Index: 26.2600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.9352
    Cell Significance Index: 42.3800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.4645
    Cell Significance Index: 525.2800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 1.1681
    Cell Significance Index: 28.0200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.1628
    Cell Significance Index: 126.4800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.1614
    Cell Significance Index: 89.1300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.1175
    Cell Significance Index: 68.6900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.1064
    Cell Significance Index: 179.9500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.9811
    Cell Significance Index: 21.2600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.8949
    Cell Significance Index: 25.7900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.8876
    Cell Significance Index: 12.1100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.7832
    Cell Significance Index: 541.7100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.7495
    Cell Significance Index: 33.1500
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.7072
    Cell Significance Index: 8.4300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.6958
    Cell Significance Index: 26.3500
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 0.5621
    Cell Significance Index: 5.6700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.5580
    Cell Significance Index: 37.5200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.5514
    Cell Significance Index: 28.7200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.5329
    Cell Significance Index: 33.5900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.5245
    Cell Significance Index: 61.8600
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.4386
    Cell Significance Index: 6.4700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.4372
    Cell Significance Index: 12.4800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.3357
    Cell Significance Index: 8.9800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3164
    Cell Significance Index: 38.9000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2974
    Cell Significance Index: 56.5900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2622
    Cell Significance Index: 143.1700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2582
    Cell Significance Index: 46.5500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1685
    Cell Significance Index: 152.1300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1631
    Cell Significance Index: 307.0100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.1559
    Cell Significance Index: 240.0100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1390
    Cell Significance Index: 9.6200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1359
    Cell Significance Index: 13.4400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.1185
    Cell Significance Index: 161.1200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1107
    Cell Significance Index: 204.1500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1085
    Cell Significance Index: 1.8600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0982
    Cell Significance Index: 62.3700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0601
    Cell Significance Index: 1.2800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0451
    Cell Significance Index: 19.9200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0440
    Cell Significance Index: 19.9900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0157
    Cell Significance Index: 0.5500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0133
    Cell Significance Index: 0.6000
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.0158
    Cell Significance Index: -0.1700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0181
    Cell Significance Index: -0.9100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0186
    Cell Significance Index: -1.2000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0307
    Cell Significance Index: -4.2200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0361
    Cell Significance Index: -26.7100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0369
    Cell Significance Index: -27.0800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0453
    Cell Significance Index: -2.3600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0471
    Cell Significance Index: -35.6300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0603
    Cell Significance Index: -6.9100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0639
    Cell Significance Index: -36.0100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0841
    Cell Significance Index: -52.5400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0891
    Cell Significance Index: -15.2100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0989
    Cell Significance Index: -2.6400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0997
    Cell Significance Index: -14.4900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1102
    Cell Significance Index: -5.1400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1282
    Cell Significance Index: -36.9000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1692
    Cell Significance Index: -17.2800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1739
    Cell Significance Index: -5.5700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2110
    Cell Significance Index: -44.4500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2111
    Cell Significance Index: -27.2700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2206
    Cell Significance Index: -25.7100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2383
    Cell Significance Index: -11.2000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2388
    Cell Significance Index: -12.5400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2570
    Cell Significance Index: -26.7600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.2655
    Cell Significance Index: -34.0400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2780
    Cell Significance Index: -20.7200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2958
    Cell Significance Index: -10.2800
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.3877
    Cell Significance Index: -4.8400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.4052
    Cell Significance Index: -28.6600
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.4170
    Cell Significance Index: -8.8500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.4332
    Cell Significance Index: -11.3900
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.4976
    Cell Significance Index: -9.8400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4984
    Cell Significance Index: -39.4700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.5431
    Cell Significance Index: -17.7800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.5548
    Cell Significance Index: -14.2600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.5558
    Cell Significance Index: -17.7000
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.5705
    Cell Significance Index: -7.2000
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.5795
    Cell Significance Index: -18.3300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.5916
    Cell Significance Index: -36.2700
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.5982
    Cell Significance Index: -12.0100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.6262
    Cell Significance Index: -10.4800
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.6967
    Cell Significance Index: -10.0200
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.7402
    Cell Significance Index: -18.9100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.7524
    Cell Significance Index: -10.7800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.7906
    Cell Significance Index: -21.5200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.8131
    Cell Significance Index: -20.3300
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.8192
    Cell Significance Index: -17.7000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Histone Modulation:** NSD2 possesses histone-lysine N-methyltransferase activity, enabling it to modify histone proteins, which in turn, affects chromatin structure and gene expression. 2. **DNA Repair:** NSD2 is involved in the regulation of DNA double-strand break repair via nonhomologous end joining (NHEJ) and homology-directed repair (HDR). 3. **Transcriptional Regulation:** NSD2 interacts with RNA polymerase II, negatively regulating transcription and influencing isotype switching to IgA isotypes. 4. **Cellular Development:** NSD2 is expressed in cardiac muscle cells, germ cells, and GABAergic cortical interneurons, suggesting its role in developmental processes. **Pathways and Functions:** 1. **Chromatin Remodeling:** NSD2's histone-modifying activity influences chromatin organization, chromatin remodeling, and chromatin binding. 2. **DNA Damage Response:** NSD2's involvement in DNA double-strand break repair pathways, including NHEJ and HDR, highlights its role in maintaining genomic stability. 3. **Transcriptional Regulation:** NSD2's interaction with RNA polymerase II and its negative regulatory effects on transcription demonstrate its capacity to modulate gene expression. 4. **Cellular Signaling:** NSD2's recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double-strand breaks indicate its role in cellular signaling cascades. **Clinical Significance:** 1. **Cancer:** NSD2's involvement in histone modification and DNA repair pathways suggests its potential role in cancer development and progression. 2. **Neurological Disorders:** NSD2's expression in GABAergic cortical interneurons and its involvement in transcriptional regulation imply its potential involvement in neurological disorders, such as epilepsy and schizophrenia. 3. **Cardiac Disease:** NSD2's expression in cardiac muscle cells and its role in cellular development suggest its potential involvement in cardiac disease, such as hypertrophic cardiomyopathy. 4. **Germline Mutations:** NSD2's involvement in DNA repair pathways and its potential role in genomic instability highlight the importance of germline mutations in its function and disease susceptibility. In conclusion, NSD2's complex role in regulating gene expression, DNA repair, and cellular development underscores its significance in various cellular processes. Further research is necessary to fully elucidate the functional implications of NSD2 in different diseases and to explore its therapeutic potential.

Genular Protein ID: 547293036

Symbol: NSD2_HUMAN

Name: Histone-lysine N-methyltransferase NSD2

UniProtKB Accession Codes:

O96028 A2A2T2 A2A2T3 A2A2T4 A7MCZ1 D3DVQ2 O96031 Q4VBY8 Q672J1 Q6IS00 Q86V01 Q9BZB4 Q9UI92 Q9UPR2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 3 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 8 CTD 1 ChEBI 27 ChEMBL 1 ChiTaRS 1 DIP 1 DNASU 1 DisGeNET 1 EC 1 EMBL 55 EMDB 2 Ensembl 12 ExpressionAtlas 1 GO 24 Gene3D 4 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 23 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 12 PDBsum 12 PRO 1 PROSITE 7 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 9 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 8 Pumba 1 RNAct 1 Reactome 5 RefSeq 13 Rhea 6 SIGNOR 1 SMART 7 SMR 1 STRING 1 SUPFAM 4 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9787135

Title: The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts.

PubMed ID: 9787135

PubMed ID: 9618163

Title: WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma.

PubMed ID: 9618163

DOI: 10.1093/hmg/7.7.1071

PubMed ID: 11152655

Title: A unique mRNA initiated within a middle intron of WHSC1/MMSET encodes a DNA binding protein that suppresses human IL-5 transcription.

PubMed ID: 11152655

DOI: 10.1165/ajrcmb.24.1.4224

PubMed ID: 15677557

Title: Overexpression of transcripts originating from the MMSET locus characterizes all t(4;14)(p16;q32)-positive multiple myeloma patients.

PubMed ID: 15677557

DOI: 10.1182/blood-2004-09-3704

PubMed ID: 10470851

Title: Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

PubMed ID: 10470851

DOI: 10.1093/dnares/6.3.197

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10945609

Title: Detection of t(4;14)(p16.3;q32) chromosomal translocation in multiple myeloma by reverse transcription-polymerase chain reaction analysis of IGH-MMSET fusion transcripts.

PubMed ID: 10945609

PubMed ID: 11337357

Title: Translocation T(4;14)(p16.3;q32) is a recurrent genetic lesion in primary amyloidosis.

PubMed ID: 11337357

DOI: 10.1016/s0002-9440(10)64115-6

PubMed ID: 12433679

Title: A subset of multiple myeloma harboring the t(4;14)(p16;q32) translocation lacks FGFR3 expression but maintains an IGH/MMSET fusion transcript.

PubMed ID: 12433679

DOI: 10.1182/blood-2002-09-2801

PubMed ID: 15257719

Title: Identification of a novel IGH-MMSET fusion transcript in a human myeloma cell line with the t(4;14)(p16.3;q32) chromosomal translocation.

PubMed ID: 15257719

DOI: 10.1111/j.1365-2141.2004.05048.x

PubMed ID: 16115125

Title: Identification of ID-1 as a potential target gene of MMSET in multiple myeloma.

PubMed ID: 16115125

DOI: 10.1111/j.1365-2141.2005.05664.x

PubMed ID: 16197452

Title: Transcription repression activity is associated with the type I isoform of the MMSET gene involved in t(4;14) in multiple myeloma.

PubMed ID: 16197452

DOI: 10.1111/j.1365-2141.2005.05741.x

PubMed ID: 15734578

Title: The etiology of Wolf-Hirschhorn syndrome.

PubMed ID: 15734578

DOI: 10.1016/j.tig.2005.01.008

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 18172012

Title: Multiple-myeloma-related WHSC1/MMSET isoform RE-IIBP is a histone methyltransferase with transcriptional repression activity.

PubMed ID: 18172012

DOI: 10.1128/mcb.02130-07

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19808676

Title: The target of the NSD family of histone lysine methyltransferases depends on the nature of the substrate.

PubMed ID: 19808676

DOI: 10.1074/jbc.m109.034462

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 22099308

Title: NSD2 links dimethylation of histone H3 at lysine 36 to oncogenic programming.

PubMed ID: 22099308

DOI: 10.1016/j.molcel.2011.08.042

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24129315

Title: Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.

PubMed ID: 24129315

DOI: 10.1074/mcp.o113.027870

PubMed ID: 29760529

Title: De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features.

PubMed ID: 29760529

DOI: 10.1038/s10038-018-0464-5

PubMed ID: 29728617

Title: Depletion of Nsd2-mediated histone H3K36 methylation impairs adipose tissue development and function.

PubMed ID: 29728617

DOI: 10.1038/s41467-018-04127-6

PubMed ID: 27571355

Title: Structure of the Epigenetic Oncogene MMSET and Inhibition by N-Alkyl Sinefungin Derivatives.

PubMed ID: 27571355

DOI: 10.1021/acschembio.6b00308

PubMed ID: 29892088

Title: De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype.

PubMed ID: 29892088

DOI: 10.1038/s41436-018-0014-8

PubMed ID: 33941880

Title: Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.

PubMed ID: 33941880

DOI: 10.1038/s41436-021-01158-1

Sequence Information:

  • Length: 1365
  • Mass: 152258
  • Checksum: 7B3128E1FA893AAA
  • Sequence:
    • MEFSIKQSPL SVQSVVKCIK MKQAPEILGS ANGKTPSCEV NRECSVFLSK AQLSSSLQEG 
VMQKFNGHDA LPFIPADKLK DLTSRVFNGE PGAHDAKLRF ESQEMKGIGT PPNTTPIKNG 
SPEIKLKITK TYMNGKPLFE SSICGDSAAD VSQSEENGQK PENKARRNRK RSIKYDSLLE 
QGLVEAALVS KISSPSDKKI PAKKESCPNT GRDKDHLLKY NVGDLVWSKV SGYPWWPCMV 
SADPLLHSYT KLKGQKKSAR QYHVQFFGDA PERAWIFEKS LVAFEGEGQF EKLCQESAKQ 
APTKAEKIKL LKPISGKLRA QWEMGIVQAE EAASMSVEER KAKFTFLYVG DQLHLNPQVA 
KEAGIAAESL GEMAESSGVS EEAAENPKSV REECIPMKRR RRAKLCSSAE TLESHPDIGK 
STPQKTAEAD PRRGVGSPPG RKKTTVSMPR SRKGDAASQF LVFCQKHRDE VVAEHPDASG 
EEIEELLRSQ WSLLSEKQRA RYNTKFALVA PVQAEEDSGN VNGKKRNHTK RIQDPTEDAE 
AEDTPRKRLR TDKHSLRKRD TITDKTARTS SYKAMEAASS LKSQAATKNL SDACKPLKKR 
NRASTAASSA LGFSKSSSPS ASLTENEVSD SPGDEPSESP YESADETQTE VSVSSKKSER 
GVTAKKEYVC QLCEKPGSLL LCEGPCCGAF HLACLGLSRR PEGRFTCSEC ASGIHSCFVC 
KESKTDVKRC VVTQCGKFYH EACVKKYPLT VFESRGFRCP LHSCVSCHAS NPSNPRPSKG 
KMMRCVRCPV AYHSGDACLA AGCSVIASNS IICTAHFTAR KGKRHHAHVN VSWCFVCSKG 
GSLLCCESCP AAFHPDCLNI EMPDGSWFCN DCRAGKKLHF QDIIWVKLGN YRWWPAEVCH 
PKNVPPNIQK MKHEIGEFPV FFFGSKDYYW THQARVFPYM EGDRGSRYQG VRGIGRVFKN 
ALQEAEARFR EIKLQREARE TQESERKPPP YKHIKVNKPY GKVQIYTADI SEIPKCNCKP 
TDENPCGFDS ECLNRMLMFE CHPQVCPAGE FCQNQCFTKR QYPETKIIKT DGKGWGLVAK 
RDIRKGEFVN EYVGELIDEE ECMARIKHAH ENDITHFYML TIDKDRIIDA GPKGNYSRFM 
NHSCQPNCET LKWTVNGDTR VGLFAVCDIP AGTELTFNYN LDCLGNEKTV CRCGASNCSG 
FLGDRPKTST TLSSEEKGKK TKKKTRRRRA KGEGKRQSED ECFRCGDGGQ LVLCDRKFCT 
KAYHLSCLGL GKRPFGKWEC PWHHCDVCGK PSTSFCHLCP NSFCKEHQDG TAFSCTPDGR 
SYCCEHDLGA ASVRSTKTEK PPPEPGKPKG KRRRRRGWRR VTEGK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.