The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]

Tumor type associations:

  • Bladder
  • Breast
  • Cervical
  • Colorectal
  • Endometrial
  • Esophageal
  • Gastric
  • Kidney
  • Liver
  • Lymphoma
  • Melanoma
  • Ovarian
  • Pancreatic
  • Prostate
  • Enables transcription cis-regulatory region binding
  • Enables DNA binding
  • Enables transcription coactivator activity
  • Enables protein binding
  • Methyltransferase activity
  • Located in nucleus
  • Located in nucleoplasm
  • Part of histone methyltransferase complex
  • Part of MLL3/4 complex
  • Involved_in oocyte growth
  • Chromatin organization
  • Heterochromatin assembly
  • Involved in regulation of transcription, DNA-templated
  • Involved in positive regulation of cell population proliferation
  • Kabuki syndrome 1

KMT2D localizations – Subcellular Localization Database

Gene Location