2.1.1.357: [histone H3]-lysine36 N-dimethyltransferase
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For detailed information about [histone H3]-lysine36 N-dimethyltransferase, go to the full flat file.
Reaction
2 S-adenosyl-L-methionine + = 2 S-adenosyl-L-homocysteine +
Synonyms
Ash1L, EC 2.1.1.43, H3K36 KMTase, H3K36 methyltransferase, H3K36-specific methyltransferase, histone H3 lysine 36 methyltransferase, KMT3B, KMT3C, Metnase, MMSET, NSD1, NSD2, NSD3, nuclear receptor SET domain containing protein 2, nuclear receptor-binding SET domain protein 2, SET, SETD2, SETMAR, Smyd2, Whsc1, WHSC1L1
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General Information
General Information on EC 2.1.1.357 - [histone H3]-lysine36 N-dimethyltransferase
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malfunction
physiological function
germline deletion of NSD2 causes Wolf-Hirschhorn syndrome, a developmental disorder characterized by craniofacial defects, growth retardation and microcephaly
malfunction
mutations in NSD1 cause Sotos syndrome, a condition of childhood overgrowth and intellectual disability
malfunction
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NSD1 enzyme mutants are associated with Sotos syndrome, myelodysplastic syndrome and cancer. NSD2 enzyme mutants are associated with Wolf-Hirschhorn syndrome and multiple myeloma
malfunction
specific knockout of cardiac enzyme does not lead to ventricular remodelling
malfunction
the enzyme methylates Lys36 of histone H3 to promote the establishment of Hox gene expression by counteracting polycomb silencing
ASH1L is a HOX gene activator and important transcriptional regulator during development
physiological function
NSD2 is an important developmental regulator and oncogene. ASH1L is a HOX gene activator and important transcriptional regulator during development. SMYD2 promotes cancer cell proliferation in head and neck squamous cell carcinoma and esophageal squamous-cell carcinoma. SETMAR protein is linked to cancer via its role in DNA repair. The tumor suppressor SETD3 is implicated in DNA replication and repair due to its interaction with proliferating cell nuclear antigen
physiological function
NSD2 is an important developmental regulator and oncogene. SMYD2 promotes cancer cell proliferation in head and neck squamous cell carcinoma and esophageal squamous-cell carcinoma. SETMAR protein is linked to cancer via its role in DNA repair. The tumor suppressor SETD3 is implicated in DNA replication and repair due to its interaction with proliferating cell nuclear antigen
physiological function
the enzyme enhances nonhomologous end-joining repair of, and survival after, DNA double-strand breaks
physiological function
the enzyme promotes ventricular remodelling mediated by the regulation of demethylation of [histone H3]-L-lysine36