BCR gene

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Breakpoint cluster region
PDB rendering based on 1k1f.
Available structures: 1k1f
Identifiers
Symbol(s) BCR; ALL; BCR/FGFR1; BCR1; CML; D22S11; D22S662; FGFR1/BCR; FLJ16453; PHL
External IDs OMIM: 151410 MGI88141 HomoloGene3192
Orthologs
Human Mouse
Entrez 613 110279
Ensembl n/a ENSMUSG00000009681
Refseq NM_004327 (mRNA)
NP_004318 (protein)
XM_898043 (mRNA)
XP_903136 (protein)
Location n/a Chr 10: 74.51 - 74.63 Mb
Pubmed search [1] [2]

The BCR gene is one of the two genes in the bcr-abl complex, which is associated with the Philadelphia chromosome.

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.[1]

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[edit] Further reading

  • Wang L, Seale J, Woodcock BE, Clark RE (2002). "e19a2-positive chronic myeloid leukaemia with BCR exon e16-deleted transcripts.". Leukemia 16 (8): 1562–3. doi:10.1038/sj.leu.2402600. PMID 12145699.