PAK5
p21 (RAC1) activated kinase 5
Summary
The protein encoded by this gene is a member of the PAK family of Ser/Thr protein kinases. PAK family members are known to be effectors of Rac/Cdc42 GTPases, which have been implicated in the regulation of cytoskeletal dynamics, proliferation, and cell survival signaling. This kinase contains a CDC42/Rac1 interactive binding (CRIB) motif, and has been shown to bind CDC42 in the presence of GTP. This kinase is predominantly expressed in brain. It is capable of promoting neurite outgrowth, and thus may play a role in neurite development. This kinase is associated with microtubule networks and induces microtubule stabilization. The subcellular localization of this kinase is tightly regulated during cell cycle progression. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs200458985 | 20:9,520,172 | G/C | — | uncertain significance |
| rs2516448634 | 20:9,520,222 | T/C | — | uncertain significance |
| rs2516456582 | 20:9,523,286 | C/A | — | uncertain significance |
| rs371878197 | 20:9,523,341 | C/T | — | uncertain significance |
| rs2516457050 | 20:9,523,364 | C/A | — | uncertain significance |
| rs75316826 | 20:9,525,078 | A/G | — | benign |
| rs6133723 | 20:9,546,554 | G/A | — | benign |
| rs754468025 | 20:9,546,677 | A/T | — | uncertain significance |
| rs768724288 | 20:9,546,761 | C/A | — | uncertain significance |
| rs773708187 | 20:9,546,850 | C/T | — | uncertain significance |
| rs201610769 | 20:9,546,877 | A/G | — | uncertain significance |
| rs762365457 | 20:9,546,883 | G/C | — | uncertain significance |
| rs2045679132 | 20:9,546,950 | G/A | — | uncertain significance |
| rs781698677 | 20:9,546,965 | C/T | — | uncertain significance |
| rs58486349 | 20:9,547,022 | C/T | — | uncertain significance |
| rs61729218 | 20:9,547,023 | G/A | — | benign |
| rs2516582054 | 20:9,560,797 | G/T | — | uncertain significance |
| rs140079492 | 20:9,560,814 | T/C | — | uncertain significance |
| rs767455314 | 20:9,560,898 | G/A | — | uncertain significance |
| rs1022040039 | 20:9,560,927 | C/A | — | uncertain significance |
| rs369268475 | 20:9,560,934 | C/A | — | uncertain significance |
| rs201331261 | 20:9,560,961 | T/C | — | uncertain significance |
| rs756732283 | 20:9,561,027 | T/A | — | uncertain significance |
| rs1397011664 | 20:9,561,066 | G/C | — | uncertain significance |
| rs141245476 | 20:9,561,108 | C/G | — | uncertain significance |
| rs56054068 | 20:9,561,134 | C/T | — | benign |
| rs770054494 | 20:9,561,144 | C/T | — | uncertain significance |
| rs774601283 | 20:9,561,172 | C/A | — | uncertain significance |
| rs762286985 | 20:9,561,190 | C/T | — | uncertain significance |
| rs746095667 | 20:9,561,240 | T/C | — | uncertain significance |
| rs115731613 | 20:9,561,266 | T/C | — | benign |
| rs752749714 | 20:9,561,331 | G/T | — | uncertain significance |
| rs199607339 | 20:9,561,392 | C/T | — | likely benign |
| rs201131316 | 20:9,561,423 | G/C | — | uncertain significance |
| rs142065974 | 20:9,561,435 | C/T | — | uncertain significance |
| rs758518559 | 20:9,561,571 | C/T | — | uncertain significance |
| rs2516782254 | 20:9,624,796 | G/T | — | uncertain significance |
| rs764122690 | 20:9,624,953 | C/A | — | uncertain significance |
| rs112714481 | 20:9,652,330 | A/C | — | — |
| rs2423464 | 20:9,735,106 | G/A | — | — |
| rs6056891 | 20:9,778,729 | G/A | intron variant | — |
| rs112958007 | 20:9,786,536 | T/C | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.