BMX
BMX non-receptor tyrosine kinase
Summary
This gene encodes a non-receptor tyrosine kinase belonging to the Tec kinase family. The protein contains a PH-like domain, which mediates membrane targeting by binding to phosphatidylinositol 3,4,5-triphosphate (PIP3), and a SH2 domain that binds to tyrosine-phosphorylated proteins and functions in signal transduction. The protein is implicated in several signal transduction pathways including the Stat pathway, and regulates differentiation and tumorigenicity of several types of cancer cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs141827642 | X:15,529,580 | T/A | — | benign |
| rs372642389 | X:15,534,252 | C/T | — | uncertain significance |
| rs149800709 | X:15,534,291 | G/T | — | uncertain significance |
| rs2147108820 | X:15,534,334 | G/A | — | uncertain significance |
| rs753509328 | X:15,536,070 | C/T | — | uncertain significance |
| rs1450025000 | X:15,536,078 | G/A | — | uncertain significance |
| rs781573176 | X:15,540,500 | A/G | — | likely benign |
| rs147917241 | X:15,540,593 | G/C | — | likely benign |
| rs199940605 | X:15,540,598 | G/A | — | uncertain significance |
| rs139052738 | X:15,540,599 | C/T | — | benign |
| rs35697037 | X:15,542,116 | G/A | intron variant | — |
| rs60768809 | X:15,547,161 | T/C | intron variant | — |
| rs761589929 | X:15,548,115 | T/G | — | uncertain significance |
| rs2519616221 | X:15,555,276 | A/G | — | likely benign |
| rs542606045 | X:15,560,118 | C/G | — | uncertain significance |
| rs753620703 | X:15,560,209 | A/T | — | uncertain significance |
| rs145482201 | X:15,560,312 | C/T | — | benign |
| rs370079442 | X:15,560,327 | C/A | — | likely benign |
| rs144206884 | X:15,564,960 | G/A | — | uncertain significance |
| rs199628215 | X:15,567,954 | G/C | — | benign |
| rs773960824 | X:15,568,029 | T/C | — | uncertain significance |
| rs776820082 | X:15,568,064 | C/T | — | uncertain significance |
| rs1189561826 | X:15,568,118 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.