NSD2

NSD2
Identifiers
Aliases	NSD2, MMSET, REIIBP, TRX5, WHS, WHSC1, Wolf-Hirschhorn syndrome candidate 1, nuclear receptor binding SET domain protein 2, KMT3G, KMT3F, RAUST
External IDs	OMIM: 602952; MGI: 1276574; HomoloGene: 26175; GeneCards: NSD2; OMA:NSD2 - orthologs
Gene location (Human)
Chr.	Chromosome 4 (human)
End	1,982,207 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	34,055,319 bp
RNA expression pattern
	Top expressed in
	ventricular zone; ; ganglionic eminence; ; sural nerve; ; right testis; ; left testis; ; secondary oocyte; ; bone marrow cells; ; male germ cell; ; stromal cell of endometrium; ; sperm;
	Top expressed in
	hand; ; superior cervical ganglion; ; otic vesicle; ; ventricular zone; ; tail of embryo; ; yolk sac; ; lateral septal nucleus; ; ganglionic eminence; ; genital tubercle; ; lateral geniculate nucleus;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	methyltransferase activity; transferase activity; sequence-specific DNA binding; DNA binding; histone methyltransferase activity (H4-K20 specific); chromatin binding; metal ion binding; protein binding; histone-lysine N-methyltransferase activity; DNA-binding transcription factor activity, RNA polymerase II-specific; histone methyltransferase activity (H3-K36 specific);
Cellular component	cytoplasm; nucleoplasm; chromosome; nucleus; chromatin;
Biological process	regulation of transcription, DNA-templated; regulation of double-strand break repair via nonhomologous end joining; membranous septum morphogenesis; anatomical structure morphogenesis; negative regulation of transcription by RNA polymerase II; transcription, DNA-templated; histone H3-K36 methylation; atrial septum secundum morphogenesis; methylation; atrial septum primum morphogenesis; regulation of establishment of protein localization; positive regulation of isotype switching to IgA isotypes; histone H4-K20 methylation; bone development; double-strand break repair via nonhomologous end joining; chromatin organization;
	Sources:Amigo / QuickGO
Orthologs
	7468
	107823
	ENSG00000109685
	ENSMUSG00000057406
	O96028
	Q8BVE8
NM_001042424; NM_007331; NM_014919; NM_133330; NM_133331;
	NM_133332; NM_133333; NM_133334; NM_133335; NM_133336
	NM_001081102; NM_001177884; NM_175231
NP_001035889; NP_015627; NP_579877; NP_579878; NP_579889;
	NP_579890
	NP_001074571; NP_001171355; NP_780440
	Wikidata
View/Edit Human	View/Edit Mouse

Probable histone-lysine N-methyltransferase NSD2 is an enzyme that in humans is encoded by the NSD2 gene.

This gene encodes a protein that contains several domain types present in other developmental proteins: PWWP domains, an HMG box, a SET domains, several PHD-type zinc fingers and a terminal C5HCH motif. 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.