NSD2, Official Symbol NSD2provided by HGNC Official Full Name nuclear receptor binding SET domain protein 2provided by HGNC Primary source HGNC:HGNC:12766 See related Ensembl:ENSG00000109685 MIM:602952; AllianceGenome:HGNC:12766 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as WHS; TRX5; KMT3F; KMT3G; MMSET; RAUST; WHSC1; REIIBP 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] Expression Broad expression in testis (RPKM 9.1), bone marrow (RPKM 6.6) and 25 other tissues See more Orthologs mouse all