KDM6B

Chr 17p13.1

lysine demethylase 6B

Aliases:: KIAA0346
MANE:: ENST00000448097.7

OMIM: 611577 ↗NCBI: 23135 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

KDM6B · O15054

v62025-08-01

Predicted Aligned Error matrix for KDM6B — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

57.3/ 100

Low

1,643 residues

Confidence breakdown

Very high(≥ 90)29%
Confident(70–90)7%
Low(50–70)5%
Very low(< 50)59%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
0.80
hereditary disease
0.53
syndromic intellectual disability
0.37
autosomal recessive non-syndromic intellectual disability
0.37
Neurodevelopmental abnormality
0.33
Neurodevelopmental delay
0.27
Intellectual disability
0.27
autism spectrum disorder
0.26
Abnormality of the skeletal system
0.26
arthropathy
0.18

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Lysine-specific demethylase 6B

Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code (PubMed:17713478, PubMed:17825402, PubMed:17851529, PubMed:18003914). Demethylates trimethylated and dimethylated H3 'Lys-27' (PubMed:17713478, PubMed:17825402, PubMed:17851529, PubMed:18003914). Plays a central role in regulation of posterior development, by regulating HOX gene expression (PubMed:17851529). Involved in inflammatory response by participating in macrophage differentiation in case of inflammation by regulating gene expression and macrophage differentiation (PubMed:17825402). Plays a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expression by acting as a link between T-box factors and the SMARCA4-containing SWI/SNF remodeling complex (By similarity)