Probable Histone-Lysine N-Methyltransferase NSD2 (WHSC1) ELISA Kit for Human

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]

WHSC1: a SET domain-containing protein lysine methyltransferase that is expressed normally in early development. Catalyzes the dimethylation of H3K36; H3K36me2 is associated with regions that are transcriptionally active. Maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in about 15% of t(4;14) multiple myeloma cases. Patients with the t(4;14) chromosomal translocation comprise one of the worst prognostic subgroups of multiple myeloma. The t(4;14) translocation results in overexpression of WHSC1 and of FGFR3 due to the placement of the strong immunoglobulin H intronic Emu enhancer and 3-prime enhancer in the promoter regions of WHSC1 and FGFR3 genes, respectively. 100% of t(4;14) patients retain overexpression of WHSC1, while 30% have lost expression of FGFR3, suggesting that WHSC1 and not FGFR3 may the primary driver of the disease. Seven alternatively spliced isoforms of the human protein have been reported.

Protein type: Amino Acid Metabolism - lysine degradation; EC 2.1.1.43; Methyltransferase; Methyltransferase, protein lysine; Oncoprotein; Ubiquitin conjugating system

Chromosomal Location of Human Ortholog: 4p16.3

Cellular Component: chromosome; cytoplasm; nucleoplasm; nucleus

Molecular Function: chromatin binding; histone lysine N-methyltransferase activity (H4-K20 specific); histone-lysine N-methyltransferase activity; metal ion binding; protein binding; sequence-specific DNA binding

Biological Process: anatomical structure morphogenesis; atrial septum primum morphogenesis; atrial septum secundum morphogenesis; double-strand break repair via nonhomologous end joining; histone H3-K36 methylation; histone H4-K20 methylation; membranous septum morphogenesis; negative regulation of transcription from RNA polymerase II promoter; positive regulation of isotype switching to IgA isotypes; regulation of double-strand break repair via nonhomologous end joining; transcription, DNA-dependent

Disease: Wolf-hirschhorn Syndrome