KLHL2
Chr 4kelch like family member 2
Also known as: ABP-KELCH, MAV, MAYVEN
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
ClinVar Variant Classifications
108 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 43 | 0 | 43 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 33 | 7 | 0 | 40 |
Likely Benign | 0 | 2 | 0 | 5 | 7 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 35 | 53 | 5 | 93 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
KLHL2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools