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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.
5830445G22Rik; 9430010A17Rik; AW555663; C130020C13Rik; D030027O06Rik; D930023B08Rik; Histone-lysine N-methyltransferase NSD2; histone-lysine N-methyltransferase NSD2; LOW QUALITY PROTEIN: histone-lysine N-methyltransferase NSD2; IL5 promoter REII region-binding protein; Kiaa1090; LOW QUALITY PROTEIN: histone-lysine N-methyltransferase NSD2; mKIAA1090; MMSET; multiple myeloma SET domain containing protein type III; multiple myeloma SET domain-containing protein; NSD2; nuclear receptor binding SET domain protein 2; nuclear SET domain-containing protein 2; probable histone-lysine N-methyltransferase NSD2; Protein trithorax-5; putative histone-lysine N-methyltransferase NSD2-like protein; REIIBP; RGD1565590; trithorax/ash1-related protein 5; TRX5; WHS; Whsc1; Whsc1l; Wolf-Hirschhorn syndrome candidate 1; Wolf-Hirschhorn syndrome candidate 1 (human); Wolf-Hirschhorn syndrome candidate 1 protein; Wolf-Hirschhorn syndrome candidate 1 protein homolog
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