protein
Lysine-specific demethylase 5B
Gene
KDM5B
Organism
Homo sapiens(9606)
Length
1544 aa
Mass
175,658 Da
KDM5B (Lysine-specific demethylase 5B) is a histone demethylase that catalyzes removal of methyl groups from lysine-4 of histone H3, a critical modification in histone code regulation (UniProt: Q9UGL1). The enzyme processes trimethylated, dimethylated, and monomethylated forms of this residue and functions as a transcriptional corepressor for genes including FOXG1B and PAX9.
KDM5B plays context-dependent roles in cell proliferation and tumorigenesis. In breast cancer, it promotes cell growth by repressing tumor suppressors such as BRCA1 and HOXA5, while in melanoma it may function as a tumor suppressor. The protein also regulates circadian biology by repressing CLOCK-BMAL1-mediated activation of the clock component PER2 (UniProt: Q9UGL1).
KDM5B is associated with intellectual developmental disorder, autosomal recessive 65 (MRT65), characterized by moderate to severe intellectual disability, developmental delay, and facial dysmorphism with camptodactyly in some patients (UniProt: Q9UGL1). This disease association is consistent with the protein's role in chromatin regulation during neurodevelopment (SFARI Cat 1).
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
High confidence — strong genetic evidence from multiple studies
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
Histone demethylase that demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code (PubMed:24952722, PubMed:27214403, PubMed:28262558). Does not demethylate histone H3 'Lys-9' or H3 'Lys-27'. Demethylates trimethylated, dimethylated and monomethylated H3 'Lys-4'. Acts as a transcriptional corepressor for FOXG1B and PAX9. Favors the proliferation of breast cancer cells by repressing tumor suppressor genes such as BRCA1 and HOXA5 (PubMed:24952722). In contrast, may act as a tumor suppressor for melanoma. Represses the CLOCK-BMAL1 heterodimer-mediated transcriptional activation of the core clock component PER2 (By similarity)
Disease associations
Intellectual developmental disorder, autosomal recessive 65MRT65
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT65 patients have moderate to severe intellectual disability, developmental delay, and facial dysmorphism. Camptodactyly is present in some patients.
Sources
Last updated 5/6/2026, 5:25:33 AM