Immunogen sequence: SANGKTPSCE VNRECSVFLS KAQLSSSLQE GVMQKFNGHD ALPFIPADKL KDLTSRVFNG EPGAHDAKLR FESQEMKGIG TPPNTTPIKN GSPEIKLKIT KTYMNGKPLF ESSICGD
Highest antigen sequence identity to the following orthologs: Mouse - 91%, Rat - 91%.
Binds to an epitope located within the peptide sequence ALPFIPADKL as determined by overlapping synthetic peptides.
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.
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Protein Aliases: Histone-lysine N-methyltransferase NSD2; IL5 promoter REII region-binding protein; 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; REIIBP; trithorax/ash1-related protein 5; TRX5; WHS; Wolf-Hirschhorn syndrome candidate 1 protein
Gene Aliases: KIAA1090; MMSET; NSD2; REIIBP; TRX5; WHS; WHSC1
UniProt ID: (Human) O96028
Entrez Gene ID: (Human) 7468