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Gene : BCR Homo sapiens

Name  ? BCR activator of RhoGEF and GTPase Cytological Location  22q11.23
Brief Description  BCR, RhoGEF and GTPase activating protein
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 protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
  • synonyms:
  • PHL,
  • HGNC:1014,
  • OTTHUMG00000150655,
  • D22S662,
  • ALL,
  • D22S11,
  • CML,
  • BCR1,
  • NM_004327,
  • CML,
  • BCR,
  • D22S662,
  • D22S11,
  • PHL,
  • uc002zww.4,
  • BCR, RhoGEF and GTPase activating protein,
  • ALL,
  • breakpoint cluster region,
  • BCR1
  • identifiers:
  • 613,
  • ENSG00000186716,
  • BCR

Genome feature

Region: gene ? Length: 137673  
Location: 22:23180365-23318037 Cyto location: 22q11.23


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Disease

2 Diseases

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2011 SN Ps

5 Cross References

20 Data Sets

6 Homologues

0 Located Features

90 Rna Seq Results