NSD2
Protein-coding gene in the species Homo sapiens
Probable histone-lysine N-methyltransferase NSD2 is an enzyme that in humans is encoded by the NSD2 gene.
This gene encodes a protein that contains several domain types present in other developmental proteins: PWWP domains, an HMG box, a SET domains, several PHD-type zinc fingers and a terminal C5HCH motif. 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.
Sources and credits
This article is adapted from the Wikipedia article “NSD2”, written by its contributors and licensed under CC BY-SA 4.0. Fathomly has changed the layout, removed citation markers, navigation and maintenance notices, and adjusted punctuation. This adapted version is shared under the same license. For references, see the original article.
Images, from Wikimedia Commons:
- Ideogram human chromosome 4.svg by National Center for Biotechnology Information, U.S. National Library of Medicine, Public domain
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