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EC Number General Information Commentary Reference
Display the word mapDisplay the reaction diagram Show all sequences 2.1.1.357malfunction germline deletion of NSD2 causes Wolf-Hirschhorn syndrome, a developmental disorder characterized by craniofacial defects, growth retardation and microcephaly 753720
Display the word mapDisplay the reaction diagram Show all sequences 2.1.1.357malfunction mutations in NSD1 cause Sotos syndrome, a condition of childhood overgrowth and intellectual disability 753720
Display the word mapDisplay the reaction diagram Show all sequences 2.1.1.357malfunction NSD1 enzyme mutants are associated with Sotos syndrome, myelodysplastic syndrome and cancer. NSD2 enzyme mutants are associated with Wolf-Hirschhorn syndrome and multiple myeloma 754870
Display the word mapDisplay the reaction diagram Show all sequences 2.1.1.357malfunction specific knockout of cardiac enzyme does not lead to ventricular remodelling 754243
Display the word mapDisplay the reaction diagram Show all sequences 2.1.1.357malfunction the enzyme methylates Lys36 of histone H3 to promote the establishment of Hox gene expression by counteracting polycomb silencing 755067
Display the word mapDisplay the reaction diagram Show all sequences 2.1.1.357physiological function ASH1L is a HOX gene activator and important transcriptional regulator during development 753720
Display the word mapDisplay the reaction diagram Show all sequences 2.1.1.357physiological 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 753720
Display the word mapDisplay the reaction diagram Show all sequences 2.1.1.357physiological 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 753720
Display the word mapDisplay the reaction diagram Show all sequences 2.1.1.357physiological function the enzyme behaves as an oncogene in multiple cancers 754870
Display the word mapDisplay the reaction diagram Show all sequences 2.1.1.357physiological function the enzyme enhances nonhomologous end-joining repair of, and survival after, DNA double-strand breaks 755240
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