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
