Aliases for KDM6A Gene
- Lysine (K)-Specific Demethylase 6A 2 3
- UTX 3 4 6
- Histone Demethylase UTX 3 4
- KABUK2 3 6
- BA386N14.2 (Ubiquitously Transcribed X Chromosome Tetratricopeptide Repeat Protein (UTX)) 3
- Ubiquitously-Transcribed X Chromosome Tetratricopeptide Repeat Protein 4
- Ubiquitously Transcribed Tetratricopeptide Repeat Protein X-Linked 3
- Ubiquitously Transcribed Tetratricopeptide Repeat, X Chromosome 2
External Ids for KDM6A Gene
Previous Symbols for KDM6A Gene
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]
GeneCards Summary for KDM6A Gene
KDM6A (Lysine (K)-Specific Demethylase 6A) is a Protein Coding gene. Diseases associated with KDM6A include kabuki syndrome 2 and kdm6a-related kabuki syndrome. Among its related pathways are Transcriptional misregulation in cancer. GO annotations related to this gene include RNA polymerase II core promoter proximal region sequence-specific DNA binding and histone demethylase activity (H3-K27 specific). An important paralog of this gene is UTY.
UniProtKB/Swiss-Prot for KDM6A Gene
Histone demethylase that specifically demethylates Lys-27 of histone H3, thereby playing a central role in histone code. Demethylates trimethylated and dimethylated but not monomethylated H3 Lys-27. Plays a central role in regulation of posterior development, by regulating HOX gene expression. Demethylation of Lys-27 of histone H3 is concomitant with methylation of Lys-4 of histone H3, and regulates the recruitment of the PRC1 complex and monoubiquitination of histone H2A.