• Gene id: 7468

Gene Summary

• Gene Symbol: NSD2   Gene   UCSC   Ensembl
• Aliases: KMT3F, KMT3G, MMSET, REIIBP, TRX5, WHS, WHSC1
• Gene name: nuclear receptor binding SET domain protein 2
• Alternate names: histone-lysine N-methyltransferase NSD2, IL5 promoter REII region-binding protein, Wolf-Hirschhorn syndrome candidate 1, multiple myeloma SET domain containing protein type III, nuclear SET domain-containing protein 2, probable histone-lysine N-methyltransfera,
• Gene location: 4p16.3 (1871392: 1982206)     Exons: 5     NC_000004.12
• Gene summary(Entrez): 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 mal
• OMIM: 602952

Protein Summary

• Protein general information: O96028  
  • Name: Histone lysine N methyltransferase NSD2 (EC 2.1.1.356) (Multiple myeloma SET domain containing protein) (MMSET) (Nuclear SET domain containing protein 2) (Protein trithorax 5) (Wolf Hirschhorn syndrome candidate 1 protein)
  • Length: 1365  
  • Mass: 152258
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MEFSIKQSPLSVQSVVKCIKMKQAPEILGSANGKTPSCEVNRECSVFLSKAQLSSSLQEGVMQKFNGHDALPFIP
  ADKLKDLTSRVFNGEPGAHDAKLRFESQEMKGIGTPPNTTPIKNGSPEIKLKITKTYMNGKPLFESSICGDSAAD
  VSQSEENGQKPENKARRNRKRSIKYDSLLEQGLVEAALVSKISSPSDKKIPAKKESCPNTGRDKDHLLKYNVGDL
  VWSKVSGYPWWPCMVSADPLLHSYTKLKGQKKSARQYHVQFFGDAPERAWIFEKSLVAFEGEGQFEKLCQESAKQ
  APTKAEKIKLLKPISGKLRAQWEMGIVQAEEAASMSVEERKAKFTFLYVGDQLHLNPQVAKEAGIAAESLGEMAE
  SSGVSEEAAENPKSVREECIPMKRRRRAKLCSSAETLESHPDIGKSTPQKTAEADPRRGVGSPPGRKKTTVSMPR
  SRKGDAASQFLVFCQKHRDEVVAEHPDASGEEIEELLRSQWSLLSEKQRARYNTKFALVAPVQAEEDSGNVNGKK
  RNHTKRIQDPTEDAEAEDTPRKRLRTDKHSLRKRDTITDKTARTSSYKAMEAASSLKSQAATKNLSDACKPLKKR
  NRASTAASSALGFSKSSSPSASLTENEVSDSPGDEPSESPYESADETQTEVSVSSKKSERGVTAKKEYVCQLCEK
  PGSLLLCEGPCCGAFHLACLGLSRRPEGRFTCSECASGIHSCFVCKESKTDVKRCVVTQCGKFYHEACVKKYPLT
  VFESRGFRCPLHSCVSCHASNPSNPRPSKGKMMRCVRCPVAYHSGDACLAAGCSVIASNSIICTAHFTARKGKRH
  HAHVNVSWCFVCSKGGSLLCCESCPAAFHPDCLNIEMPDGSWFCNDCRAGKKLHFQDIIWVKLGNYRWWPAEVCH
  PKNVPPNIQKMKHEIGEFPVFFFGSKDYYWTHQARVFPYMEGDRGSRYQGVRGIGRVFKNALQEAEARFREIKLQ
  REARETQESERKPPPYKHIKVNKPYGKVQIYTADISEIPKCNCKPTDENPCGFDSECLNRMLMFECHPQVCPAGE
  FCQNQCFTKRQYPETKIIKTDGKGWGLVAKRDIRKGEFVNEYVGELIDEEECMARIKHAHENDITHFYMLTIDKD
  RIIDAGPKGNYSRFMNHSCQPNCETLKWTVNGDTRVGLFAVCDIPAGTELTFNYNLDCLGNEKTVCRCGASNCSG
  FLGDRPKTSTTLSSEEKGKKTKKKTRRRRAKGEGKRQSEDECFRCGDGGQLVLCDRKFCTKAYHLSCLGLGKRPF
  GKWECPWHHCDVCGKPSTSFCHLCPNSFCKEHQDGTAFSCTPDGRSYCCEHDLGAASVRSTKTEKPPPEPGKPKG
  KRRRRRGWRRVTEGK

• Structural information:
  • Protein Domains: (222..28-)
    (/note="PWWP-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00162-)
    (880..94-)
    (/note="PWWP-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00162-)
    (1011..106-)
    (/note="AWS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00562-)
    (-)
  • Interpro: IPR006560  IPR041306  IPR009071  IPR036910  IPR003616   IPR000313  IPR001214  IPR019786  IPR011011  IPR001965  IPR019787  IPR001841  IPR013083  
  • Prosite: PS51215 PS50118 PS50868 PS50812 PS50280 PS01359 PS50016
  • PDB: 5LSU 5VC8 6UE6
  • PDBsum: 5LSU 5VC8 6UE6
  • DIP: 57224
  • STRING: ENSP00000372351
• Other Databases: GeneCards:  NSD2  Malacards:  NSD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0046975	histone methyltransferase activity (H3-K36 specific)	IBA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000785	chromatin	IBA	cellular component
GO:0018024	histone-lysine N-methyltransferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006325	chromatin organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006303	double-strand break repair via nonhomologous end joining	TAS	biological process
GO:0042799	histone methyltransferase activity (H4-K20 specific)	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2001032	regulation of double-strand break repair via nonhomologous end joining	IEA	biological process
GO:0070201	regulation of establishment of protein localization	IEA	biological process
GO:0060348	bone development	IEA	biological process
GO:0010452	histone H3-K36 methylation	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003290	atrial septum secundum morphogenesis	IEA	biological process
GO:0003149	membranous septum morphogenesis	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048298	positive regulation of isotype switching to IgA isotypes	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0034770	histone H4-K20 methylation	IEA	biological process
GO:0018024	histone-lysine N-methyltransferase activity	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0003289	atrial septum primum morphogenesis	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05202	Transcriptional misregulation in cancer
hsa00310	Lysine degradation

Diseases

Associated diseases	References
Multiple myeloma	KEGG:H00010
4p deletion syndrome	KEGG:H01773
Multiple myeloma	KEGG:H00010
4p deletion syndrome	KEGG:H01773
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq