{"symbol":"WHSC1","synonyms":["TRX5","MMSET","WHS","NSD2","KMT3G","REIIBP","KMT3F"],"name":"Wolf-Hirschhorn syndrome candidate 1","description":"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]","ncbiEntrezGeneId":7468,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/7468","proteins":[{"symbol":"NSD2_HUMAN","href":"/api/1.0/protein/NSD2_HUMAN"}],"hgncRootFamilies":[{"name":"Zinc fingers","href":"/api/1.0/gene_family/Zinc+fingers"}]}