KDM3B

Chr 5q31.2

lysine demethylase 3B

Aliases:: KIAA1082, NET22
MANE:: ENST00000314358.10

OMIM: 609373 ↗NCBI: 51780 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

KDM3B · Q7LBC6

v62025-08-01

Predicted Aligned Error matrix for KDM3B — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

58.4/ 100

Low

1,761 residues

Confidence breakdown

Very high(≥ 90)23%
Confident(70–90)21%
Low(50–70)5%
Very low(< 50)51%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood solid tumours
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Monogenic short stature
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Diets-Jongmans syndrome
0.77
hereditary disease
0.51
Neurodevelopmental delay
0.41
syndromic intellectual disability
0.40
neurodevelopmental disorder
0.37
Rare genetic epilepsy
0.34
Rare genetic intellectual disability
0.34
pilocytic astrocytoma
0.33
autism spectrum disorder
0.28
atrial fibrillation
0.27

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

Protein function (UniProt)

Lysine-specific demethylase 3B

Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code. Demethylation of Lys residue generates formaldehyde and succinate. May have tumor suppressor activity