XB-FEAT-988823

nsd2

This is the community wiki page for the gene nsd2 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase

nomenclature changes

11NOV 2016

Human symbol has changed for genepage ID: 988823 From whsc1 to NSD2

undated change: Human symbol has changed for genepage ID: 988823 from Wolf-Hirschhorn syndrome candidate 1 to nuclear receptor binding SET domain protein 2

summary from NCBI

   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]