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Immunogen sequence: MEFSIKQSPL SVQSVVKCIK MKQAPEILGS ANGKTPSCEV NRECSVFLSK AQLSSSLQEG VMQKFNGHDA LPFIPADKLK DLTSRVFNGE PGAHDAKLRF ESQEMKGIGT PPNTTPIKNG SPEIKLKITK TYMNGKPLFE SSICGDSAAD VSQSEENGQK PENKARRNRK RSIKYDSLLE QGLVEAALVS KISSPSDKKI PAKKESCPNT GRDKDHLLKY NVGDLVWSKV SGYPWWPCMV; Positive Samples: HeLa, HepG2, SW620, Mouse brain, Mouse spleen; Cellular Location: Chromosome, Cytoplasm, Nucleus
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; nuclear receptor binding SET domain protein 2; Nuclear SET domain-containing protein 2; probable histone-lysine N-methyltransferase NSD2; Protein trithorax-5; trithorax/ash1-related protein 5; Wolf-Hirschhorn syndrome candidate 1 protein; Wolf-Hirschhorn syndrome candidate 1 protein homolog
Gene Aliases: 5830445G22Rik; 9430010A17Rik; AW555663; C130020C13Rik; D030027O06Rik; D930023B08Rik; KIAA1090; mKIAA1090; MMSET; NSD2; REIIBP; TRX5; WHS; WHSC1; Whsc1l
UniProt ID: (Human) O96028, (Mouse) Q8BVE8
Entrez Gene ID: (Human) 7468, (Mouse) 107823
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