KDM2B

Chr 12AD

lysine demethylase 2B

Also known as: CXXC2, FBXL10, Fbl10, JHDM1B, NEDCRO, PCCX2

NCBI Gene: 84678 ENSG00000089094 UniProt: Q8NHM5 OMIM: 609078

This histone demethylase removes methyl groups from lysine-4 and lysine-36 residues of histone H3, regulating gene transcription and ribosomal RNA expression. Mutations cause autosomal dominant neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities. The gene is highly constrained against loss-of-function variants, indicating that even single pathogenic variants can cause disease.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalitiesMIM #621474

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.18

LOEUF· LoF intol.

LOF

Mechanism· predicted