WHSC1

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

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
Orthologs
SpeciesHumanMouse
Entrez

7468

107823

Ensembl

ENSG00000109685

ENSMUSG00000057406

UniProt

O96028

Q8BVE8

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

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

  1. GRCh38: Ensembl release 89: ENSG00000109685 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000057406 - Ensembl, 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. "NSD2 nuclear receptor binding SET domain protein 2 [ Homo sapiens (human) ]".

Further reading


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