GTR Home > Genes

BCR BCR, RhoGEF and GTPase activating protein

Also known as: ALL; CML; PHL; BCR1; D22S11; D22S662

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, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Acute lymphoid leukemia
MedGen: C0023449OMIM: 613065GeneReviews: Not available
See labs
Chronic myeloid leukemia
MedGen: C0023473OMIM: 608232GeneReviews: Not available
See labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-07-10)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-07-10)

ClinGen Genome Curation Page

Genomic context

Location:
22q11.23
Sequence:
Chromosome: 22; NC_000022.11 (23180365..23318037)
Total number of exons:
23

Links

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Support Center