This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]

Tumor type associations:

  • Bladder
  • Breast
  • Cervical
  • Colorectal
  • Endometrial
  • Esophageal
  • Gastric
  • Kidney
  • Liver
  • Pancreatic
  • Prostate
  • In utero embryonic development
  • Neural tube closure
  • Heart morphogenesis
  • Respiratory system process
  • Chromatin organization
  • Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding
  • Enables protein binding
  • Oxidoreductase activity
  • Enables chromatin DNA binding
  • Enables histone demethylase activity
  • Located in nucleus
  • Located in nucleoplasm
  • Part of histone methyltransferase complex
  • Part of MLL3/4 complex
  • Kabuki syndrome 2

KDM6A localizations – Subcellular Localization Database

Gene Location