BCR BCR activator of RhoGEF and GTPase
Gene ID: 613, updated on 6-Oct-2024Gene type: protein coding
Also known as: ALL; CML; PHL; BCR1; D22S11; D22S662
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- Go to complete Gene record for BCR
- Go to Variation Viewer for BCR variants
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 unregulated tyrosine kinase activity of BCR-ABL1 contributes to the immortality of leukaemic cells. The BCR protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac and other kinases. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2020]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Acute lymphoid leukemia | not available |
| Chronic myelogenous leukemia, BCR-ABL1 positive | not available |
| Genome-wide association study of antibody response to smallpox vaccine. GeneReviews: Not available | |
| Many sequence variants affecting diversity of adult human height. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2012-07-10) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2012-07-10) ClinGen Genome Curation Page |
Genomic context
- Location:
- 22q11.23
- Sequence:
- Chromosome: 22; NC_000022.11 (23180509..23318037)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for BCR variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- BCR database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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