AlphaFold predicted structure
KDM6A · O15550
Mean pLDDT
69.9/ 100
Low
1,401 residues
Confidence breakdown
- Very high(≥ 90)46%
- Confident(70–90)16%
- Low(50–70)3%
- Very low(< 50)35%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
KDM6A
Chr Xp11.3lysine demethylase 6A
- MANE:
- ENST00000611820.5
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
CAKUT
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Congenital hyperinsulinism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesCOVID-19 research
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Deafness and congenital structural abnormalities
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Fetal anomalies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Disease associations (Open Targets)
Kabuki syndrome 2
0.80Kabuki syndrome
0.75urinary bladder cancer
0.70urinary bladder carcinoma
0.62prostate adenocarcinoma
0.58hereditary disease
0.52Kabuki syndrome 1
0.49squamous cell lung carcinoma
0.48neurodevelopmental disorder
0.41bladder transitional cell carcinoma
0.38
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Lysine-specific demethylase 6A
Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code (PubMed:17713478, PubMed:17761849, PubMed:17851529). Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-27' (PubMed:17713478, PubMed:17761849, PubMed:17851529). Plays a central role in regulation of posterior development, by regulating HOX gene expression (PubMed:17851529). 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 (PubMed:17761849). Plays a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expression (By similarity)
Diseases associated with KDM6A
Curated MONDO disease pages that list KDM6A among their top associated genes.