DOK5
docking protein 5
Summary
The protein encoded by this gene is a member of the DOK family of membrane proteins, which are adapter proteins involved in signal transduction. The encoded protein interacts with phosphorylated receptor tyrosine kinases to mediate neurite outgrowth and activation of the MAP kinase pathway. Unlike other DOK family proteins, this protein does not interact with RASGAP. This protein is up-regulated in patients with systemic sclerosis and is associated with fibrosis induced by insulin-like growth factor binding protein 5. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs199994464 | 20:53,171,505 | G/A | — | uncertain significance |
| rs576948131 | 20:53,173,276 | A/G | — | — |
| rs2515724575 | 20:53,205,253 | T/C | — | uncertain significance |
| rs139823032 | 20:53,208,239 | G/A | — | uncertain significance |
| rs940982323 | 20:53,208,269 | A/G | — | uncertain significance |
| rs753694334 | 20:53,208,283 | C/T | — | uncertain significance |
| rs1985984292 | 20:53,208,299 | G/A | — | uncertain significance |
| rs147632330 | 20:53,208,301 | C/T | — | uncertain significance |
| rs769217160 | 20:53,208,302 | G/A | — | uncertain significance |
| rs535416593 | 20:53,226,973 | G/A | — | uncertain significance |
| rs1482817635 | 20:53,226,998 | A/G | — | uncertain significance |
| rs746100481 | 20:53,227,048 | G/A | — | uncertain significance |
| rs1469763130 | 20:53,259,997 | C/T | — | uncertain significance |
| rs752227134 | 20:53,260,018 | C/T | — | uncertain significance |
| rs1225748579 | 20:53,260,071 | G/C | — | uncertain significance |
| rs199632735 | 20:53,260,094 | C/T | — | uncertain significance |
| rs1451000622 | 20:53,260,101 | G/C | — | uncertain significance |
| rs201718507 | 20:53,266,975 | T/G | — | uncertain significance |
| rs2023454 | 20:53,267,111 | C/G | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.