histone-lysine N-methyltransferase NSD2 (nuclear SET domain-containing protein 2, Wolf-Hirschhorn syndrome candidate 1 protein, multiple myeloma SET domain-containing protein, protein trithorax-5, WHSC1, KIAA1090, MMSET, NSD2, TRX5)

Function: 1) histone methyltransferase 2) transcription regulator that binds DNA & suppresses IL5 transcription S-adenosyl-L-methionine + histone L-lysine S-adenosyl-L-homocysteine + histone 6-N-methyl-L-lysine Structure: 1) belongs to the histone-lysine methyltransferase family, SET2 subfamily. 2) contains 1 AWS domain - contains 1 HMG box DNA-binding domain - contains 4 PHD-type zinc fingers - contains 1 post-SET domain - contains 2 PWWP domains - contains 1 SET domain Compartment: - nucleus - isoform 4: cytoplasm Alternative splicing: named isoforms=7 Expression: widely expressed Pathology: 1) chromosomal translocation t(4;14)(p16.3;q32.3) involving WHSC1 with IgH is a cause of multiple myeloma 2) chromosomal aberration involving WHSC1 is a cause of Wolf-Hirschhorn syndrome

General

histone N-methyltransferase SET domain-containing protein zinc finger protein

Properties

SIZE: MW = 152 kD entity length = 1365 aa COMPARTMENT: cytoplasm cell nucleus MOTIF: PWWP 1 {222-286} HMG box SITE: 453-521 Zn finger PHD-type NAME: Zn finger PHD-type SITE: 667-713 EFFECTOR-BOUND: Zn+2 Zn finger PHD-type NAME: Zn finger PHD-type SITE: 714-770 EFFECTOR-BOUND: Zn+2 Zn finger PHD-type NAME: Zn finger PHD-type SITE: 831-875 EFFECTOR-BOUND: Zn+2 PWWP 2 {880-942} AWS {1011-1061} SET domain {1062-1184} post-SET domain {1187-1203} Zn finger PHD-type NAME: Zn finger PHD-type SITE: 1239-1286 EFFECTOR-BOUND: Zn+2

Database Correlations

OMIM correlations UniProt O96028 PFAM correlations ENZYME 2.1.1.43

References

UniProt :accession O96028