WHSC1

Gene Information
  • Official Symbol: NSD2
  • Official Name: nuclear receptor binding SET domain protein 2
  • Aliases and Previous Symbols: N/A
  • Entrez ID: 7468
  • UniProt: O96028
  • Interactions: BioGRID
  • PubMed articles: Open PubMed
  • OMIM: Open OMIM
Function Summary
  • Entrez 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].
  • UniProt Summary: Histone methyltransferase with histone H3 'Lys-27' (H3K27me) methyltransferase activity. Isoform 2 may act as a transcription regulator that binds DNA and suppresses IL5 transcription through HDAC recruitment. {ECO:0000269|PubMed:11152655, ECO:0000269|PubMed:16115125, ECO:0000269|PubMed:18172012}.

Pfam Domains GO Terms


CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Essentiality in NALM6
  • Essentiality Rank: 9704
  • Expression level (log2 read counts): 8.79

Expression Distribution

  • Last modified: 2026/01/07 22:37
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