KLHL2
kelch like family member 2
Summary
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]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs777198786 | 4:166,141,099 | G/T | — | uncertain significance |
| rs148132541 | 4:166,141,137 | C/T | — | likely benign |
| rs12500138 | 4:166,147,712 | C/T | intron variant | — |
| rs541393030 | 4:166,149,984 | A/C | — | uncertain significance |
| rs3817246 | 4:166,159,326 | G/A | regulatory region variant | — |
| rs751516499 | 4:166,160,029 | A/T | — | uncertain significance |
| rs144504878 | 4:166,184,452 | G/A | — | uncertain significance |
| rs7699872 | 4:166,195,670 | T/G | — | — |
| rs767265035 | 4:166,218,836 | C/T | — | uncertain significance |
| rs2477712239 | 4:166,220,668 | G/A | — | uncertain significance |
| rs751575614 | 4:166,220,690 | G/A | — | uncertain significance |
| rs752912453 | 4:166,220,771 | T/A | — | uncertain significance |
| rs138582348 | 4:166,220,778 | C/G | — | likely benign |
| rs1745674714 | 4:166,226,833 | G/A | — | uncertain significance |
| rs1746087624 | 4:166,231,801 | A/G | — | uncertain significance |
| rs151235861 | 4:166,231,874 | C/T | synonymous variant | Likely benign |
| rs374005034 | 4:166,232,642 | A/G | — | uncertain significance |
| rs369927960 | 4:166,234,461 | G/C | — | uncertain significance |
| rs1165455734 | 4:166,235,224 | T/A | — | uncertain significance |
| rs1014371638 | 4:166,235,258 | G/A | — | uncertain significance |
| rs144649567 | 4:166,235,273 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.