LIMK2
LIM domain kinase 2
Summary
There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. The protein encoded by this gene is phosphorylated and activated by ROCK, a downstream effector of Rho, and the encoded protein, in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. It is thought that this pathway contributes to Rho-induced reorganization of the actin cytoskeleton. At least three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants54 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs148900540 | 22:31,621,713 | T/A | — | uncertain significance |
| rs1413964832 | 22:31,621,715 | T/A | — | uncertain significance |
| rs752846979 | 22:31,621,720 | A/G | — | uncertain significance |
| rs758586443 | 22:31,621,736 | G/A | — | uncertain significance |
| rs2518303008 | 22:31,621,795 | T/C | — | uncertain significance |
| rs1201980587 | 22:31,621,801 | T/G | — | uncertain significance |
| rs4820955 | 22:31,622,539 | T/A | — | — |
| rs761938809 | 22:31,644,739 | T/G | — | uncertain significance |
| rs11703927 | 22:31,644,964 | G/A | regulatory region variant | — |
| rs2106294 | 22:31,645,759 | C/T | regulatory region variant | — |
| rs55638065 | 22:31,655,196 | G/A | — | benign |
| rs2518349466 | 22:31,656,027 | C/G | — | uncertain significance |
| rs2518349557 | 22:31,656,050 | G/A | — | uncertain significance |
| rs200312431 | 22:31,658,175 | C/T | — | uncertain significance |
| rs369493707 | 22:31,658,202 | G/A | — | uncertain significance |
| rs777504070 | 22:31,658,665 | C/T | — | uncertain significance |
| rs201919044 | 22:31,658,677 | C/T | — | uncertain significance |
| rs749866123 | 22:31,658,678 | G/A | — | likely benign |
| rs140409562 | 22:31,658,716 | G/A | — | likely benign |
| rs755482329 | 22:31,658,767 | C/T | — | uncertain significance |
| rs739427 | 22:31,659,101 | G/C | intron variant | — |
| rs763014809 | 22:31,661,981 | C/T | — | uncertain significance |
| rs149963749 | 22:31,661,997 | G/A | — | uncertain significance |
| rs769771373 | 22:31,662,008 | C/T | — | uncertain significance |
| rs374529513 | 22:31,662,024 | G/A | — | uncertain significance |
| rs142176216 | 22:31,662,051 | T/A | — | uncertain significance |
| rs187649083 | 22:31,662,081 | A/T | — | uncertain significance |
| rs1341351770 | 22:31,663,027 | G/A | — | uncertain significance |
| rs2229874 | 22:31,663,775 | G/A | missense variant | — |
| rs1402237296 | 22:31,663,807 | A/C | — | uncertain significance |
| rs114531016 | 22:31,663,875 | G/A | — | benign |
| rs35422808 | 22:31,663,885 | C/T | — | uncertain significance |
| rs147975203 | 22:31,663,886 | G/A | — | uncertain significance |
| rs138454239 | 22:31,664,175 | G/A | — | uncertain significance |
| rs13056815 | 22:31,668,250 | G/C | — | — |
| rs780736822 | 22:31,668,558 | A/C | — | uncertain significance |
| rs1356597041 | 22:31,671,141 | T/C | — | uncertain significance |
| rs1440445912 | 22:31,671,149 | G/A | — | uncertain significance |
| rs765588748 | 22:31,671,182 | C/G | — | uncertain significance |
| rs59315359 | 22:31,672,676 | G/C | — | — |
| rs765059313 | 22:31,672,777 | C/A | — | uncertain significance |
| rs374368003 | 22:31,672,783 | C/G | — | uncertain significance |
| rs1260525367 | 22:31,672,804 | C/T | — | uncertain significance |
| rs200610273 | 22:31,672,933 | A/G | — | uncertain significance |
| rs145329401 | 22:31,672,965 | A/G | — | uncertain significance |
| rs777635163 | 22:31,672,971 | G/A | — | uncertain significance |
| rs1246088708 | 22:31,672,990 | T/G | — | uncertain significance |
| rs140604561 | 22:31,673,047 | A/T | — | uncertain significance |
| rs1054411543 | 22:31,673,079 | G/C | — | uncertain significance |
| rs554853322 | 22:31,673,119 | A/G | — | uncertain significance |
| rs2518389126 | 22:31,674,335 | G/C | — | uncertain significance |
| rs2518389261 | 22:31,674,384 | C/T | — | uncertain significance |
| rs2073859 | 22:31,674,553 | G/A | downstream gene variant | — |
| rs4141404 | 22:31,675,185 | A/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.