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