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NSD2 nuclear receptor binding SET domain protein 2

Also known as: WHS; TRX5; KMT3F; KMT3G; MMSET; WHSC1; REIIBP

Summary

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]

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-09-05)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-09-05)

ClinGen Genome Curation Page

Genomic context

Location:
4p16.3
Sequence:
Chromosome: 4; NC_000004.12 (1871357..1982207)
Total number of exons:
29

Links

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