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Gene : BCR Homo sapiens

Name  ? BCR activator of RhoGEF and GTPase Cytological Location  22q11.23
Brief Description  BCR activator of RhoGEF and GTPase
Description  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]
  • synonyms:
  • CML,
  • D22S662,
  • D22S11,
  • ALL,
  • OTTHUMG00000150655,
  • NM_004327,
  • BCR, RhoGEF and GTPase activating protein,
  • HGNC:1014,
  • PHL,
  • PHL,
  • ALL,
  • CML,
  • BCR,
  • breakpoint cluster region,
  • D22S11,
  • D22S662,
  • BCR1,
  • BCR1,
  • uc002zww.4
  • identifiers:
  • 613,
  • ENSG00000186716,
  • BCR

Genome feature

Region: gene ? Length: 137529  
Location: 22:23180509-23318037 Cyto location: 22q11.23


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Proteins

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SNPs

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Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

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Expression

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Other

3740 SNPs

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results