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Identification
HMDB Protein ID HMDBP09022
Secondary Accession Numbers
  • 14764
Name Histone-lysine N-methyltransferase NSD2
Synonyms
  1. Multiple myeloma SET domain-containing protein
  2. Nuclear SET domain-containing protein 2
  3. Protein trithorax-5
  4. Wolf-Hirschhorn syndrome candidate 1 protein
  5. MMSET
  6. NSD2
  7. WHSC1
Gene Name WHSC1
Protein Type Unknown
Biological Properties
General Function Involved in histone-lysine N-methyltransferase activity
Specific Function Histone methyltransferase with histone H3 'Lys-27' (H3K27me) methyltransferase activity. Isoform RE-IIBP may act as a transcription regulator that binds DNA and suppresses IL5 transcription through HDAC recruitment.
Pathways
  • Lysine degradation
  • Transcriptional misregulation in cancer
Reactions
S-Adenosylmethionine + L-lysine-[histone] → S-Adenosylhomocysteine + N(6)-methyl-L-lysine-[histone] details
Protein lysine + S-Adenosylmethionine → Protein N6-methyl-L-lysine + S-Adenosylhomocysteine details
S-Adenosylmethionine + Protein N6-methyl-L-lysine → S-Adenosylhomocysteine + Protein N6,N6-dimethyl-L-lysine details
S-Adenosylmethionine + Protein N6,N6-dimethyl-L-lysine → S-Adenosylhomocysteine + Protein N6,N6,N6-trimethyl-L-lysine details
GO Classification
Biological Process
anatomical structure morphogenesis
negative regulation of transcription from RNA polymerase II promoter
bone development
transcription, DNA-dependent
atrial septum primum morphogenesis
atrial septum secundum morphogenesis
membranous septum morphogenesis
Cellular Component
chromosome
cytoplasm
nucleolus
nuclear membrane
Component
organelle
membrane-bounded organelle
intracellular membrane-bounded organelle
nucleus
Function
ion binding
cation binding
metal ion binding
binding
catalytic activity
transition metal ion binding
zinc ion binding
transferase activity
protein binding
protein methyltransferase activity
protein-lysine n-methyltransferase activity
histone-lysine n-methyltransferase activity
nucleic acid binding
dna binding
transferase activity, transferring one-carbon groups
methyltransferase activity
Molecular Function
histone-lysine N-methyltransferase activity
metal ion binding
zinc ion binding
chromatin binding
DNA binding
Cellular Location
  1. Isoform 4:Cytoplasm
Gene Properties
Chromosome Location 4
Locus 4p16.3
SNPs WHSC1
Gene Sequence
>4098 bp
ATGGAATTTAGCATCAAGCAGAGTCCCCTTTCTGTTCAGAGTGTTGTAAAGTGCATAAAG
ATGAAGCAGGCACCAGAAATCCTCGGCAGTGCCAACGGGAAGACTCCGAGCTGCGAGGTG
AACCGCGAGTGTTCTGTGTTCCTCAGCAAAGCCCAGCTCTCCAGTAGCCTGCAGGAGGGG
GTCATGCAGAAGTTTAACGGCCACGACGCCCTGCCCTTTATTCCAGCCGACAAGCTGAAA
GATCTTACTTCCCGGGTGTTTAATGGAGAACCCGGCGCACACGATGCCAAACTGCGTTTT
GAGTCCCAGGAAATGAAAGGGATTGGGACACCCCCTAACACTACCCCTATCAAAAATGGC
TCTCCAGAAATTAAGCTGAAAATCACCAAAACATACATGAATGGGAAGCCTCTCTTTGAA
TCTTCCATTTGTGGTGACAGTGCTGCTGATGTGTCTCAGTCAGAAGAAAATGGACAAAAA
CCAGAAAACAAGGCGAGAAGGAACAGGAAGAGGAGCATAAAATATGACTCCTTGCTGGAG
CAGGGCCTTGTCGAAGCAGCTCTTGTGTCTAAGATCTCAAGTCCTTCAGATAAAAAGATT
CCAGCTAAGAAAGAGTCTTGTCCAAACACTGGAAGAGACAAAGACCACCTGTTGAAATAC
AACGTTGGTGATTTGGTGTGGTCCAAAGTGTCGGGTTACCCTTGGTGGCCTTGCATGGTT
TCTGCAGATCCACTCCTTCACAGCTATACCAAACTTAAAGGTCAGAAAAAGAGTGCACGC
CAGTATCACGTACAGTTCTTTGGTGACGCCCCAGAAAGAGCTTGGATATTTGAGAAGAGC
CTCGTAGCTTTTGAAGGAGAAGGACAGTTTGAAAAATTATGCCAGGAAAGTGCCAAGCAG
GCACCCACGAAAGCTGAGAAAATTAAGCTATTGAAACCAATTTCAGGGAAATTGAGGGCC
CAGTGGGAAATGGGCATTGTTCAAGCAGAAGAAGCTGCAAGCATGTCAGTGGAGGAGCGG
AAAGCCAAGTTCACCTTTCTCTATGTGGGGGACCAGCTTCATCTCAACCCTCAAGTAGCC
AAGGAGGCTGGCATTGCTGCAGAGTCTTTGGGAGAAATGGCAGAATCCTCAGGAGTCAGT
GAAGAAGCTGCTGAAAACCCCAAGTCTGTGAGAGAAGAGTGCATTCCCATGAAGAGAAGG
CGGAGGGCCAAACTGTGTAGCTCTGCAGAGACCCTGGAGAGTCACCCCGACATAGGGAAG
AGTACTCCTCAAAAGACGGCAGAGGCTGACCCCAGAAGAGGAGTAGGGTCTCCTCCTGGG
AGGAAGAAGACCACAGTCTCCATGCCACGAAGCAGGAAGGGAGATGCAGCATCCCAGTTT
TTGGTCTTCTGTCAAAAACACAGGGATGAGGTGGTAGCTGAGCACCCAGATGCTTCAGGT
GAGGAGATTGAAGAGCTGCTCAGGTCACAGTGGAGTCTGCTGAGTGAGAAGCAGAGAGCA
CGCTACAACACCAAGTTTGCCCTGGTGGCCCCTGTCCAGGCTGAAGAAGACTCTGGTAAT
GTAAATGGGAAAAAAAGAAACCACACAAAGAGGATACAGGACCCTACAGAAGATGCTGAA
GCTGAGGACACACCCAGGAAAAGACTCAGGACGGACAAGCACAGTCTTCGGAAGAGAGAC
ACAATCACTGACAAAACGGCCAGAACAAGCTCTTACAAGGCCATGGAGGCAGCCTCCTCG
CTCAAGAGCCAGGCAGCAACGAAAAATCTGTCTGATGCATGTAAACCACTGAAGAAGCGA
AATCGGGCTTCCACGGCAGCATCTTCAGCTCTTGGGTTTAGCAAAAGTTCATCTCCTTCT
GCATCCTTAACTGAGAATGAGGTCTCGGACAGCCCGGGAGACGAGCCCTCGGAGTCCCCA
TACGAAAGTGCAGACGAAACACAAACTGAAGTATCTGTCTCATCCAAAAAGTCTGAGCGA
GGAGTGACTGCCAAAAAGGAGTATGTGTGCCAGCTGTGTGAGAAGCCGGGCAGCCTCCTG
CTCTGTGAAGGACCCTGCTGCGGAGCTTTCCACCTCGCCTGCCTTGGGCTTTCCCGGAGG
CCAGAAGGGAGGTTCACCTGCAGCGAGTGTGCCTCAGGGATTCACTCATGTTTCGTGTGT
AAAGAGAGCAAGACAGATGTTAAGCGCTGTGTGGTAACTCAGTGTGGAAAATTTTACCAT
GAGGCTTGTGTGAAAAAATACCCTCTGACTGTATTTGAGAGCCGAGGTTTCCGCTGCCCC
CTCCACAGCTGTGTGAGCTGCCATGCTTCCAACCCTTCAAACCCAAGGCCGTCAAAAGGT
AAAATGATGCGGTGTGTCCGCTGCCCCGTTGCCTATCACAGCGGGGATGCTTGTCTGGCA
GCAGGATGCTCAGTGATCGCCTCCAACAGCATCATCTGCACTGCCCACTTCACTGCTCGG
AAGGGGAAGCGACACCACGCCCACGTCAACGTGAGCTGGTGCTTCGTGTGCTCCAAAGGG
GGGAGCCTTCTGTGCTGTGAGTCCTGCCCAGCGGCCTTCCACCCTGACTGCCTGAACATC
GAGATGCCTGACGGCAGCTGGTTCTGCAATGACTGCAGGGCTGGGAAGAAGCTGCACTTC
CAGGATATCATTTGGGTGAAACTTGGGAACTACAGATGGTGGCCGGCAGAAGTTTGCCAT
CCCAAAAATGTTCCCCCAAATATTCAGAAAATGAAGCACGAGATTGGAGAATTCCCTGTG
TTTTTCTTTGGGTCTAAAGATTATTACTGGACGCATCAGGCGCGAGTGTTCCCGTACATG
GAGGGGGACCGGGGCAGCCGCTACCAGGGGGTCAGAGGGATCGGAAGAGTCTTCAAAAAC
GCACTGCAAGAAGCTGAAGCTCGTTTTCGTGAAATTAAGCTTCAGAGGGAAGCCCGAGAA
ACACAGGAGAGCGAGCGCAAGCCCCCACCATACAAGCACATCAAGGTGAATAAGCCTTAC
GGGAAAGTCCAGATCTACACAGCGGATATTTCAGAAATCCCTAAGTGCAACTGCAAGCCC
ACAGATGAGAATCCTTGTGGCTTTGATTCGGAGTGTCTGAACAGGATGCTGATGTTTGAG
TGCCACCCGCAGGTGTGTCCCGCGGGCGAGTTCTGCCAGAACCAGTGCTTCACCAAGCGC
CAGTACCCAGAGACCAAGATCATCAAGACAGATGGCAAAGGGTGGGGCCTGGTCGCCAAG
AGGGACATCAGAAAGGGAGAATTTGTTAACGAGTACGTTGGGGAGCTGATCGACGAGGAG
GAGTGCATGGCGAGAATCAAGCACGCACACGAGAACGACATCACCCACTTCTACATGCTC
ACTATAGACAAGGACCGTATAATAGACGCTGGCCCCAAAGGAAACTACTCTCGATTTATG
AATCACAGCTGCCAGCCCAACTGTGAGACCCTCAAGTGGACAGTGAATGGGGACACTCGT
GTGGGCCTGTTTGCCGTCTGTGACATTCCTGCAGGGACGGAGCTGACTTTTAACTACAAC
CTCGATTGTCTGGGCAATGAAAAAACGGTCTGCCGGTGTGGAGCCTCCAATTGCAGTGGA
TTCCTCGGGGATAGACCAAAGACCTCGACGACCCTTTCATCAGAGGAAAAGGGCAAAAAG
ACCAAGAAGAAAACGAGGCGGCGCAGAGCAAAAGGGGAAGGGAAGAGGCAGTCAGAGGAC
GAGTGCTTCCGCTGCGGTGATGGCGGGCAGCTGGTGCTGTGTGACCGCAAGTTCTGCACC
AAGGCCTACCACCTGTCCTGCCTGGGCCTTGGCAAGCGGCCCTTCGGGAAGTGGGAATGT
CCTTGGCATCATTGTGACGTGTGTGGCAAACCTTCGACTTCATTTTGCCACCTCTGCCCC
AATTCGTTCTGTAAGGAGCACCAGGACGGGACAGCCTTCAGCTGCACCCCGGACGGGCGG
TCCTACTGCTGTGAGCATGACTTAGGGGCGGCATCGGTCAGAAGCACCAAGACTGAGAAG
CCCCCCCCAGAGCCAGGGAAGCCGAAGGGGAAGAGGCGGCGGCGGAGGGGCTGGCGGAGA
GTCACAGAGGGCAAATAG
Protein Properties
Number of Residues 1365
Molecular Weight 152257.02
Theoretical pI 8.685
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Probable histone-lysine N-methyltransferase NSD2
MEFSIKQSPLSVQSVVKCIKMKQAPEILGSANGKTPSCEVNRECSVFLSKAQLSSSLQEG
VMQKFNGHDALPFIPADKLKDLTSRVFNGEPGAHDAKLRFESQEMKGIGTPPNTTPIKNG
SPEIKLKITKTYMNGKPLFESSICGDSAADVSQSEENGQKPENKARRNRKRSIKYDSLLE
QGLVEAALVSKISSPSDKKIPAKKESCPNTGRDKDHLLKYNVGDLVWSKVSGYPWWPCMV
SADPLLHSYTKLKGQKKSARQYHVQFFGDAPERAWIFEKSLVAFEGEGQFEKLCQESAKQ
APTKAEKIKLLKPISGKLRAQWEMGIVQAEEAASMSVEERKAKFTFLYVGDQLHLNPQVA
KEAGIAAESLGEMAESSGVSEEAAENPKSVREECIPMKRRRRAKLCSSAETLESHPDIGK
STPQKTAEADPRRGVGSPPGRKKTTVSMPRSRKGDAASQFLVFCQKHRDEVVAEHPDASG
EEIEELLRSQWSLLSEKQRARYNTKFALVAPVQAEEDSGNVNGKKRNHTKRIQDPTEDAE
AEDTPRKRLRTDKHSLRKRDTITDKTARTSSYKAMEAASSLKSQAATKNLSDACKPLKKR
NRASTAASSALGFSKSSSPSASLTENEVSDSPGDEPSESPYESADETQTEVSVSSKKSER
GVTAKKEYVCQLCEKPGSLLLCEGPCCGAFHLACLGLSRRPEGRFTCSECASGIHSCFVC
KESKTDVKRCVVTQCGKFYHEACVKKYPLTVFESRGFRCPLHSCVSCHASNPSNPRPSKG
KMMRCVRCPVAYHSGDACLAAGCSVIASNSIICTAHFTARKGKRHHAHVNVSWCFVCSKG
GSLLCCESCPAAFHPDCLNIEMPDGSWFCNDCRAGKKLHFQDIIWVKLGNYRWWPAEVCH
PKNVPPNIQKMKHEIGEFPVFFFGSKDYYWTHQARVFPYMEGDRGSRYQGVRGIGRVFKN
ALQEAEARFREIKLQREARETQESERKPPPYKHIKVNKPYGKVQIYTADISEIPKCNCKP
TDENPCGFDSECLNRMLMFECHPQVCPAGEFCQNQCFTKRQYPETKIIKTDGKGWGLVAK
RDIRKGEFVNEYVGELIDEEECMARIKHAHENDITHFYMLTIDKDRIIDAGPKGNYSRFM
NHSCQPNCETLKWTVNGDTRVGLFAVCDIPAGTELTFNYNLDCLGNEKTVCRCGASNCSG
FLGDRPKTSTTLSSEEKGKKTKKKTRRRRAKGEGKRQSEDECFRCGDGGQLVLCDRKFCT
KAYHLSCLGLGKRPFGKWECPWHHCDVCGKPSTSFCHLCPNSFCKEHQDGTAFSCTPDGR
SYCCEHDLGAASVRSTKTEKPPPEPGKPKGKRRRRRGWRRVTEGK
GenBank ID Protein 109633019
UniProtKB/Swiss-Prot ID O96028
UniProtKB/Swiss-Prot Entry Name NSD2_HUMAN
PDB IDs Not Available
GenBank Gene ID NM_001042424.2
GeneCard ID WHSC1
GenAtlas ID WHSC1
HGNC ID HGNC:12766
References
General References
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  12. Chesi M, Nardini E, Lim RS, Smith KD, Kuehl WM, Bergsagel PL: The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts. Blood. 1998 Nov 1;92(9):3025-34. [PubMed:9787135 ]
  13. Stec I, Wright TJ, van Ommen GJ, de Boer PA, van Haeringen A, Moorman AF, Altherr MR, den Dunnen JT: 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. Hum Mol Genet. 1998 Jul;7(7):1071-82. [PubMed:9618163 ]
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  19. Intini D, Fabris S, Storlazzi T, Otsuki T, Ciceri G, Verdelli D, Lombardi L, Rocchi M, Neri A: Identification of a novel IGH-MMSET fusion transcript in a human myeloma cell line with the t(4;14)(p16.3;q32) chromosomal translocation. Br J Haematol. 2004 Aug;126(3):437-9. [PubMed:15257719 ]
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