KLHL2

Chr 4

kelch like family member 2

Also known as: ABP-KELCH, MAV, MAYVEN

NCBI Gene: 11275 ENSG00000109466 UniProt: O95198

KLHL2 encodes a substrate-specific adapter protein for E3 ubiquitin ligase complexes that targets specific proteins including WNK kinases for proteasomal degradation and promotes actin cytoskeleton reorganization and oligodendrocyte precursor cell projection growth. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability and developmental delay. This gene is highly constrained against loss-of-function variants in the general population.

ResearchSummary from RefSeq, UniProt

Enables actin binding activity; identical protein binding activity; and ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process and protein ubiquitination. Located in actin cytoskeleton. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

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.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.18

LOEUF· LoF intol.

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Mechanism

Some data sources returned errors (1)

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