KDM5B

Chr 1

lysine demethylase 5B

Also known as: CT31, JARID1B, MRT65, PLU-1, PLU1, PPP1R98, PUT1, RBBP2H1A

NCBI Gene: 10765 ENSG00000117139 UniProt: Q9UGL1

This gene encodes a histone demethylase that specifically removes methyl groups from lysine 4 of histone H3, playing a central role in transcriptional regulation and chromatin modification. Biallelic mutations cause autosomal recessive intellectual developmental disorder. The gene is highly constrained against loss-of-function variants in the general population, indicating that functional copies are essential for normal development.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a lysine-specific histone demethylase that belongs to the jumonji/ARID domain-containing family of histone demethylases. The encoded protein is capable of demethylating tri-, di- and monomethylated lysine 4 of histone H3. This protein plays a role in the transcriptional repression or certain tumor suppressor genes and is upregulated in certain cancer cells. This protein may also play a role in genome stability and DNA repair. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, autosomal recessive 65

Clinical highlights

Gene-disease validity (ClinGen)

intellectual disability · ARModerateconsider for supplementary testing

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.57

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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