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KDM5B

Chr 1q32.1

lysine demethylase 5B

Aliases:
RBBP2H1A, PLU-1, CT31, PPP1R98
MANE:
ENST00000367265.9
OMIM: 605393 ↗NCBI: 10765 ↗Ensembl ↗

Annotations refreshed 7 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • intellectual disability, autosomal recessive 65

    0.75

  • neurodevelopmental disorder

    0.64

  • hereditary disease

    0.54

  • neurodegenerative disease

    0.46

  • autosomal recessive non-syndromic intellectual disability

    0.37

  • intellectual disability, autosomal recessive

    0.37

  • autism spectrum disorder

    0.37

  • Neurodevelopmental abnormality

    0.27

  • Intellectual disability

    0.22

  • psoriasis

    0.19

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

Protein function (UniProt)

Lysine-specific demethylase 5B

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)

Diseases associated with KDM5B

Curated MONDO disease pages that list KDM5B among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.