Rabbit anti-Human NSD2 Polyclonal Antibody

Uniprot Id

O96028

Target Species

Human

Target Name

NSD2

Target Full Name

Histone-lysine N-methyltransferase NSD2

Target Function

Histone methyltransferase which specifically dimethylates nucleosomal histone H3 at 'Lys-36' (H3K36me2). Also monomethylates nucleosomal histone H3 at 'Lys-36' (H3K36me) in vitro. Does not trimethylate nucleosomal histone H3 at 'Lys-36' (H3K36me3). However, specifically trimethylates histone H3 at 'Lys-36' (H3K36me3) at euchromatic regions in embryonic stem (ES) cells. By methylating histone H3 at 'Lys-36', involved in the regulation of gene transcription during various biological processes. In ES cells, associates with developmental transcription factors such as SALL1 and represses inappropriate gene transcription mediated by histone deacetylation. During heart development, associates with transcription factor NKX2-5 to repress transcription of NKX2-5 target genes. Plays an essential role in adipogenesis, by regulating expression of genes involved in pre-adipocyte differentiation. During T-cell receptor (TCR) and CD28-mediated T-cell activation, promotes the transcription of transcription factor BCL6 which is required for follicular helper T (Tfh) cell differentiation. During B-cell development, required for the generation of the B1 lineage. During B2 cell activation, may contribute to the control of isotype class switch recombination (CRS), splenic germinal center formation, and the humoral immune response. Plays a role in class switch recombination of the immunoglobulin heavy chain (IgH) locus during B-cell activation. By regulating the methylation of histone H3 at 'Lys-36' and histone H4 at 'Lys-20' at the IgH locus, involved in TP53BP1 recruitment to the IgH switch region and promotes the transcription of IgA.; Histone methyltransferase which specifically dimethylates nucleosomal histone H3 at 'Lys-36' (H3K36me2).; Histone methyltransferase which specifically dimethylates nucleosomal histone H3 at 'Lys-36' (H3K36me2). Methylation of histone H3 at 'Lys-27' is controversial. Mono-, di- or tri-methylates histone H3 at 'Lys-27' (H3K27me, H3K27me2 and H3K27me3). Does not methylate histone H3 at 'Lys-27'. May act as a transcription regulator that binds DNA and suppresses IL5 transcription through HDAC recruitment.

Target Involvement

A chromosomal aberration involving NSD2 is a cause of multiple myeloma tumors. Translocation t(4;14)(p16.3;q32.3) with IgH.; DISEASE: Note=NSD2 is located in the Wolf-Hirschhorn syndrome (WHS) critical region. WHS results from by sub-telomeric deletions in the short arm of chromosome 4. NSD2 is deleted in every case, however deletion of linked genes contributes to both the severity of the core characteristics and the presence of the additional syndromic problems.

Target Subcellular Location

Nucleus. Chromosome.; [Isoform 1]: Nucleus. Chromosome.; [Isoform 3]: Nucleus.; [Isoform 4]: Cytoplasm. Nucleus, nucleolus.

Target Protein Families

Class V-like SAM-binding methyltransferase superfamily, Histone-lysine methyltransferase family, SET2 subfamily

Target Tissue Specificity

Widely expressed. Predominantly expressed in thymus and testis.

Target Synonyms

FLJ23286; IL5 promoter REII region binding protein; KIAA1090; MGC176638; MMSET; MMSET type II; Multiple myeloma SET domain containing protein type III; Multiple myeloma SET domain protein; Multiple myeloma SET domain-containing protein; NSD 2; NSD2; NSD2_HUMAN; Nuclear receptor binding SET domain protein 2; Nuclear SET domain-containing protein 2; Probable histone-lysine N-methyltransferase NSD2; Protein trithorax-5; REIIBP; Trithorax/ash1 related protein 5; TRX5; TRX5 protein ; WHS; Whsc1; Wolf Hirschhorn syndrome candidate 1; Wolf Hirschhorn syndrome candidate 1 protein; Wolf-Hirschhorn syndrome candidate 1 protein

Target Background

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.