Description: Homo sapiens breakpoint cluster region (BCR), transcript variant 2, mRNA. RefSeq Summary (NM_021574): 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]. Transcript (Including UTRs) Position: hg19 chr22:23,595,986-23,627,388 Size: 31,403 Total Exon Count: 8 Strand: + Coding Region Position: hg19 chr22:23,603,167-23,627,388 Size: 24,222 Coding Exon Count: 7
ID:H0Y554_HUMAN DESCRIPTION: SubName: Full=Breakpoint cluster region protein; Flags: Fragment; SIMILARITY: Contains 1 DH (DBL-homology) domain. CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.
Blood Vessels Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903301]
In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
Body Height Daniel F Gudbjartsson et al. Nature genetics 2008, Many sequence variants affecting diversity of adult human height., Nature genetics.
[PubMed 18391951]
depressive disorder, major; bipolar disorder Hashimoto, R. et al. 2005, The Breakpoint Cluster Region Gene on Chromosome 22q11 is Associated with Bipolar Disorder, Biological psychiatry. 2005 May;57(10):1097-102.
[PubMed 15866548]
Our results suggest that genetic variations in the BCR gene could confer susceptibility to bipolar disorder and major depressive disorder.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on H0Y554
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0035023 regulation of Rho protein signal transduction GO:0035556 intracellular signal transduction GO:0043547 positive regulation of GTPase activity
Y00661 - Human bcr mRNA (break point cluster gene). X02596 - Human mRNA for bcr (breakpoint cluster region) gene in Philadelphia chromosome. BC066122 - Homo sapiens breakpoint cluster region, mRNA (cDNA clone IMAGE:30341883). AB209991 - Homo sapiens mRNA for BCR variant protein, clone: aj01345. AB384354 - Synthetic construct DNA, clone: pF1KSDB0005, Homo sapiens BCR gene for breakpoint cluster region protein, complete cds, without stop codon, in Flexi system. EU216070 - Homo sapiens BCR/ABL fusion protein isoform Y4 (BCR/ABL fusion) mRNA, complete cds. EU216064 - Homo sapiens BCR/ABL fusion protein isoform X7 (BCR/ABL fusion) mRNA, complete cds. EU216062 - Homo sapiens BCR/ABL fusion protein isoform X5 (BCR/ABL fusion) mRNA, complete cds. EU216059 - Homo sapiens BCR/ABL fusion protein isoform X2 (BCR/ABL fusion) mRNA, complete cds. EU216061 - Homo sapiens BCR/ABL fusion protein isoform X4 (BCR/ABL fusion) mRNA, complete cds. EU216068 - Homo sapiens BCR/ABL fusion protein isoform Y2 (BCR/ABL fusion) mRNA, complete cds. EU216067 - Homo sapiens BCR/ABL fusion protein isoform Y1 (BCR/ABL fusion) mRNA, complete cds. AM491362 - Homo sapiens partial mRNA for bcr-abl1 e6a2 chimeric protein. X14676 - Human bcr-abl mRNA fragment (clone 10b). AJ298916 - Homo sapiens partial mRNA for BCR/FGFR1 chimaeric fusion protein. HQ622706 - Homo sapiens BCR-ABL1 e8a2 variant (BCR-ABL1) mRNA, partial cds. M17542 - Human bcr/abl protein gene (product of translocation t(22q11; 9q34)), exons 1 and 2. X14677 - Human bcr-abl mRNA 5' fragment (clone 8a). X14675 - Human bcr-abl mRNA 5' fragment (clone 3c). AK303241 - Homo sapiens cDNA FLJ58654 complete cds, highly similar to Breakpoint cluster region protein (EC 2.7.11.1). AK128501 - Homo sapiens cDNA FLJ46653 fis, clone TRACH3005173. AB742170 - Homo sapiens mRNA for BCR/FGFR1 chimera protein, partial cds. AY536245 - Homo sapiens isolate BCRcml2L1I072001 breakpoint cluster region protein (BCR) mRNA, partial cds. AY536247 - Homo sapiens isolate BCRcml2k10I072001 breakpoint cluster region protein (BCR) mRNA, partial cds. AY536248 - Homo sapiens isolate BCRall115I012001 breakpoint cluster region protein (BCR) mRNA, partial cds. AY536250 - Homo sapiens isolate BCRallcl2frB012001 breakpoint cluster region protein (BCR) mRNA, partial cds. AY533677 - Homo sapiens BCR mRNA, partial cds. AY536246 - Homo sapiens isolate BCRCML2K191I072001 breakpoint cluster region protein (BCR) mRNA, partial cds. AK024483 - Homo sapiens mRNA for FLJ00077 protein, partial cds. BC169208 - Synthetic construct Homo sapiens clone IMAGE:9093269 breakpoint cluster region isoform 1 (BCR) gene, partial cds. KU234180 - Homo sapiens BCR-ABL1 fusion protein mRNA, partial cds. AB742171 - Homo sapiens mRNA for FGFR1/BCR chimera protein, partial cds. AJ298917 - Homo sapiens partial mRNA for FGFR1/BCR chimaeric fusion peptide. AB069693 - Homo sapiens mRNA for bcr/abl e8a2 fusion protein, partial cds. EU154998 - Homo sapiens BCR/ABL e8a2 fusion protein mRNA, partial cds. EU394717 - Homo sapiens BCR/ABL e8a2 fusion protein (BCR/ABL fusion) mRNA, exons 7, 8, a2 and partial cds. AY536244 - Homo sapiens isolate BCRcml2K192I072001 breakpoint cluster region protein (BCR) mRNA, partial cds. AY536249 - Homo sapiens isolate BCRcml2K23I072001 breakpoint cluster region protein (BCR) mRNA, partial cds. E00984 - Probe detection of breakpoint cluster region. M30829 - Human bcr/abl fusion protein mRNA, partial cds, clone K28. M30832 - Human bcr/abl fusion protein, partial cds, clone E3.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa05200 - Pathways in cancer hsa05220 - Chronic myeloid leukemia
BioCarta from NCI Cancer Genome Anatomy Project h_gleevecpathway - Inhibition of Cellular Proliferation by Gleevec h_integrinPathway - Integrin Signaling Pathway