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WHSC1

From Wikipedia, the free encyclopedia
NSD2
Identifiers
AliasesNSD2, MMSET, REIIBP, TRX5, WHS, WHSC1, Wolf-Hirschhorn syndrome candidate 1, nuclear receptor binding SET domain protein 2, KMT3G, KMT3F, RAUST
External IDsOMIM: 602952; MGI: 1276574; HomoloGene: 26175; GeneCards: NSD2; OMA:NSD2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001081102
NM_001177884
NM_175231

RefSeq (protein)

NP_001074571
NP_001171355
NP_780440

Location (UCSC)Chr 4: 1.87 – 1.98 MbChr 5: 33.98 – 34.06 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Probable histone-lysine N-methyltransferase NSD2 is an enzyme that in humans is encoded by the NSD2 gene.[5][6][7]

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.[7]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000109685Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000057406Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Stec I, Wright TJ, van Ommen GJ, de Boer PA, van Haeringen A, Moorman AF, Altherr MR, den Dunnen JT (Jan 1999). "WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma". Hum Mol Genet. 7 (7): 1071–82. doi:10.1093/hmg/7.7.1071. PMID 9618163.
  6. ^ Chesi M, Nardini E, Lim RS, Smith KD, Kuehl WM, Bergsagel PL (Nov 1998). "The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts". Blood. 92 (9): 3025–34. doi:10.1182/blood.V92.9.3025. PMID 9787135.
  7. ^ a b "NSD2 nuclear receptor binding SET domain protein 2 [ Homo sapiens (human) ]".

Further reading

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