Entrez gene ID | | 613 |
Official gene symbol | | BCR |
Full name | | breakpoint cluster region |
Aliases | | ,ALL,BCR1,CML,D22S11,D22S662,FLJ16453,PHL, |
Gene summary | | A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: 22 Locus: 22q11|22q11.23 |
Gene position | | 23522552 - 23660224 Map Viewer |
Gene orientation | | plus |
Gene size | | 137673 bp |
Gene sequence |
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OMIM ID | | 151410 |
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