NSD2

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]

Description

Nuclear receptor binding SET domain protein 2

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm

Predicted location

Intracellular

Protein family

Cancer-related genes
Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transcription factors

Chromosome

4 (1871393 - 1982207)

Ensembl ID

ENSG00000109685  (ver. 103.38)

Orthologs

Mouse Nsd2: ENSMUSG00000057406

UniProt

O96028

neXtProt

NX_O96028

Human splice variants
Mouse splice variants

Protein structure