Gene content    
WHSC1 ( by HUGO)
Wolf-Hirschhorn Syndrome Candidate 1
Oncogene
Wolf-Hirschhorn Syndrome Candidate 1
Nuclear SET Domain-Containing Protein 2
MMSET
NSD2
TRX5
EC 2.1.1.43
REIIBP
WHS
Histone-Lysine N-Methyltransferase NSD2
IL5 Promoter REII Region-Binding Protein
Multiple Myeloma SET Domain Containing Protein Type III
Probable Histone-Lysine N-Methyltransferase NSD2
Trithorax/Ash1-Related Protein 5
KIAA1090
Multiple Myeloma SET Domain-Containing Protein
Protein Trithorax-5
Wolf-Hirschhorn Syndrome Candidate 1 Protein
NCBI: 4p16.3    Ensembl: 4p16.3
NSD2_HUMANSize: 1365 amino acidsMass: 152258 Da

  • Tissue specificity: Widely expressed [IMAGE] Pathway & Disease-focused RT2 Profiler PCR Arrays including WHSC1: Epigenetic Chromatin Modification Enzymes in human mouse rat Ubiquitin Ligases in human mouse rat Primer Products: [IMAGE] OriGene qSTAR qPCR primer pairs in human
  • 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
                          
    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
  • Catalytic activity:
    S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone]
  • Similarity:
    Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily
                          
    Contains 1 AWS domain
                          
    Contains 1 HMG box DNA-binding domain
                          
    Contains 4 PHD-type zinc fingers
                          
    Contains 1 post-SET domain
                          
    Con
  • Protein Domain/Family    
    Source ID Domain Name Type
    InterProIPR000313PWWP_domPWWPDomain
    IPR001214SET_domNuclear protein SETDomain
    IPR001841Znf_RINGZinc finger, RING-typeDomain
    IPR001965Znf_PHDZinc finger, PHD-typeDomain
    IPR003616Post-SET_domSET-related regionDomain
    IPR006560AWSAWSDomain
    IPR009071HMG_box_domHigh mobility group boxDomain
    IPR011011Znf_FYVE_PHDZinc finger, FYVE/PHD-typeDomain
    BlocksIPB001214Nuclear protein SETNuclear protein SET
    IPB003616SET-related regionSET-related region

    Gene Ontology    
    Type Term Evidence Source Pub
    Biological Process anatomical structure morphogenesis TAS GOA 9618163
    Molecular Function protein binding IPI GOA 19481544

    Disorder & Mutation    
    Source Disease
    SWISS-PROTNote=A chromosomal aberration involving WHSC1 is a cause of multiple myeloma tumors. Translocation t(4;14)(p16.3;q32.3) with IgH
    SWISS-PROTNote=WHSC1 is located in the Wolf-Hirschhorn syndrome (WHS) critical region. WHS results from by sub-telomeric deletions in the short arm of chromosome 4. WHSC1 is deleted in every case, however deletion of linked genes contributes to both the severity of the core characteristics and the presence of the additional syndromic problems

    WHSC1 cross reference    
    PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene