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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 (BCR Activator Of RhoGEF And GTPase) is a Protein Coding gene. Diseases associated with BCR include Leukemia, Chronic Myeloid and Leukemia, Acute Lymphoblastic 3. Among its related pathways are Ponatinib Pathway, Pharmacokinetics/Pharmacodynamics and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include protein tyrosine kinase activity and enzyme binding. An important paralog of this gene is ABR.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0004674 | protein serine/threonine kinase activity | TAS,IEA | -- |
GO:0005085 | guanyl-nucleotide exchange factor activity | IEA,IMP | 23940119 |
GO:0005089 | Rho guanyl-nucleotide exchange factor activity | IMP | 23940119 |
GO:0005096 | GTPase activator activity | IEA,IDA | 1903516 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | IEA | -- |
GO:0014069 | postsynaptic density | ISS | -- |
GO:0016020 | membrane | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Ponatinib Pathway, Pharmacokinetics/Pharmacodynamics | ||
2 | FGFR1 mutant receptor activation | ||
3 | HIV Life Cycle |
.45
|
|
4 | G-protein signaling TC21 regulation pathway |
G-protein signaling M-RAS regulation pathway
.71
|
G-protein signaling TC21 regulation pathway
.71
|
5 | Tyrosine Kinases / Adaptors |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002692 | negative regulation of cellular extravasation | IEA | -- |
GO:0003014 | renal system process | IEA | -- |
GO:0006468 | protein phosphorylation | TAS | 1657398 |
GO:0007165 | signal transduction | TAS | 1657398 |
GO:0007264 | small GTPase mediated signal transduction | IMP | 23940119 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Dasatinib | Approved, Investigational | Pharma | Target, Inhibition, inhibitor | Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors | 324 | |
imatinib | Approved | Pharma | Target, inhibitor | Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors | 0 | |
Ponatinib | Approved, Investigational | Pharma | Target, inhibitor | Kinase Inhibitors, Fibroblast growth factor receptor (FGFR)inhibitors | 57 | |
bosutinib | Approved | Pharma | Target, inhibitor | Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors | 0 | |
Busulfan | Approved, Investigational | Pharma | 622 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
Compound | Action | Cas Number |
---|---|---|
Adaphostin | P210bcr/abl tyrosine kinase inhibitor | 241127-58-2 |
Bafetinib (INNO-406) | Bcr-Abl/Lyn tyrosine kinase inhibitor | 887650-05-7 |
Bosutinib (SKI-606) | Potent Abl/Src kinases | 380843-75-4 |
Dasatinib (BMS-354825) | Src and BCR-Abl inhibitor | 302962-49-8 |
DCC-2036 (Rebastinib) | Bcr-Abl inhibitor | 1020172-07-9 |
GNF 2 | Bcr-Abl inhibitor | 778270-11-4 |
GNF 5 | Bcr-Abl inhibitor | 778277-15-9 |
GNF-7 | 839706-07-9 | |
GZD824 | Bcr-Abl inhibitor,novel orally bioavailable | 1421783-64-3 |
Nilotinib monohydrochloride monohydrate | 923288-90-8 | |
Nilotinib(AMN-107) | Bcr-Abl kinase inhibitor,selective | 641571-10-0 |
PD 180970 | P210bcr/abl tyrosine kinase inhibitor | 287204-45-9 |
PD173955 | Dual Src/Abl kinase inhibitor, ATP-competitive, | 260415-63-2 |
Ponatinib (AP24534) | pan-BCR-ABL inhibitor,multi-kinase inhibitor | 943319-70-8 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BCR 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BCR 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BCR 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Bcr 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bcr 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | BCR 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BCR 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BCR 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bcr 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | bcr 30 31 |
|
OneToMany | |
BCR (1 of 2) 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | RhoGAP1A 31 32 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | BEM2 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708500 | Benign: not provided | 23,181,415(+) | C/T | MISSENSE_VARIANT | |
708733 | Benign: not provided | 23,283,970(+) | C/A | INTRON_VARIANT | |
710829 | Benign: not provided | 23,309,432(+) | G/A | SYNONYMOUS_VARIANT | |
717052 | Benign: not provided | 23,253,809(+) | C/T | SYNONYMOUS_VARIANT | |
717117 | Benign: not provided | 23,181,882(+) | C/T | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
leukemia, chronic myeloid |
|
|
leukemia, acute lymphoblastic 3 |
|
|
precursor t-cell acute lymphoblastic leukemia |
|
|
chromosome 22q11.2 deletion syndrome, distal |
|
|
leukemia |
|