BCR - BCR activator of RhoGEF and GTPase Gene
Also Known as ALL; CML; PHL; BCR1; D22S11; D22S662
Species: Homo sapiens
About BCR
This gene has 15 transcripts (splice variants), 265 orthologues, 1 paralogue and is associated with 104 phenotypes. Ubiquitous expression in testis (RPKM 14.9), brain (RPKM 14.5) and 25 other tissues.
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]
BCR Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_004327.4 | NP_004318.3 | breakpoint cluster region protein isoform 1 |
| NM_021574.3 | NP_067585.2 | breakpoint cluster region protein isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables GTPase activator activity |
IDA
IDA: Inferred from direct assay
|
1903516 | GOA |
| enables guanyl-nucleotide exchange factor activity |
IDA
IDA: Inferred from direct assay
|
7479768 | GOA |
| enables guanyl-nucleotide exchange factor activity |
IMP
IMP: Inferred from mutant phenotype
|
23940119 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
8112292 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in activation of GTPase activity |
IDA
IDA: Inferred from direct assay
|
7479768 | GOA |
| involved in activation of GTPase activity |
IMP
IMP: Inferred from mutant phenotype
|
23940119 | GOA |
| involved in focal adhesion assembly |
IMP
IMP: Inferred from mutant phenotype
|
23940119 | GOA |
| involved in keratinocyte differentiation |
IMP
IMP: Inferred from mutant phenotype
|
23940119 | GOA |
| involved in regulation of Rho protein signal transduction |
IMP
IMP: Inferred from mutant phenotype
|
23940119 | GOA |
| involved in small GTPase-mediated signal transduction |
IMP
IMP: Inferred from mutant phenotype
|
23940119 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of protein-containing complex |
IDA
IDA: Inferred from direct assay
|
23382219 | GOA |
BCR Protein Structure
Bcr-Abl_Oligo: Bcr-Abl oncoprotein oligomerisation domain (1 - 79)
RhoGEF: RhoGEF domain (503 - 690)
PH: PH domain (720 - 865)
C2: C2 domain (913 - 983)
RhoGAP: RhoGAP domain (1068 - 1218)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1200
- 1271 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
breakpoint cluster region protein |
|
BCR Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Cross
|
BCR | P11274 | Sh2d5 | Mus musculus | Q8JZW5 | 25331951 | |
|
Cross
|
BCR | P11274 | Sh2d5 | Mus musculus | A2AM67 | 25331951 | |
|
Intra
|
BCR | P11274 | GRB2 | Homo sapiens | P62993 | 8995379 | |
|
Intra
|
BCR | P11274 | GRB2 | Homo sapiens | P62993 | 10887132 | |
|
Intra
|
BCR | P11274 | GRB2 | Homo sapiens | P62993 | 8955135 | |
|
Intra
|
BCR | P11274 | TNKS2 | Homo sapiens | Q9H2K2 | 22153077 |
BCR Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83001 | BCR Antibody (YA2746) | WB, IHC-P, IP | Human, Rat |
| HY-P83001A | BCR Antibody (YA2746)(PBS only) | WB, IHC-P, IP | Human, Rat |
| HY-P84057 | BCR Antibody (YA3754) | WB, FC, ELISA | Human |
| HY-P84057A | BCR Antibody (YA3754)(PBS only) | WB, FC, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Leukemia, Chronic Myeloid |
|
|
| Chromosome 8p11 Myeloproliferative Syndrome |
|
|
| B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality |
|
|
| Precursor T-Cell Acute Lymphoblastic Leukemia |
|
|
| Chronic Myelogenous Leukemia, Bcr-Abl1 Positive |
|
|
| Leukemia |
|
|
| Myeloid Leukemia |
|
|
| Chromosome 22q11.2 Deletion Syndrome, Distal |
|
|
| Chronic Leukemia |
|
|
| Acute Leukemia |
|
|
| Myeloproliferative Neoplasm |
|
|
| Denture Stomatitis |
|
|
| Hematologic Cancer |
|
|
| Leukemia, Acute Lymphoblastic |
|
|
| B-Lymphoblastic Leukemia/Lymphoma |
|
|
| Cryoglobulinemia, Familial Mixed |
|
|
| Agammaglobulinemia, X-Linked |
|
|
| B-Cell Lymphoma |
|
|
| Gastrointestinal Stromal Tumor |
|
|
| Leukemia, Chronic Lymphocytic |
|
|
| B-Cell Adult Acute Lymphocytic Leukemia |
|
|
| Burkitt Lymphoma |
|
|
| Chronic Myelomonocytic Leukemia |
|
|
| Lymphoma, Non-Hodgkin, Familial |
|
|
| Acute Promyelocytic Leukemia |
|
|
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
|
| Leukemia, Acute Myeloid |
|
|
| Fanconi Anemia, Complementation Group A |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | BCR | VGNC | VGNC:38420 |
| Mus musculus | BCR | MGD | MGI:88141 |
| Felis catus | BCR | VGNC | VGNC:60094 |
| Rattus norvegicus | BCR | RGD | RGD:1307993 |
| Macaca mulatta | BCR | VGNC | VGNC:97739 |
| Bos taurus | BCR | VGNC | VGNC:56808 |
| Others | BCR | NCBI |