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BCR
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BCR

The information on this page was automatically extracted from online scientific databases.

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What is the official name of the BCR gene?

The official name of this gene is “breakpoint cluster region.”

BCR is the gene's official symbol. The BCR gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the BCR gene?

From Entrez GeneThis link leads to a site outside Genetics Home Reference.:

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]

From UniProtThis link leads to a site outside Genetics Home Reference.:

GTPase-activating protein for RAC1 and CDC42. Promotes the exchange of RAC or CDC42-bound GDP by GTP, thereby activating them. Displays serine/threonine kinase activity.

How are changes in the BCR gene related to health conditions?

UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the BCR gene's known or predicted involvement in human disease.

Note=A chromosomal aberration involving BCR is a cause of chronic myeloid leukemia. Translocation t(9;22)(q34;q11) with ABL1. The translocation produces a BCR-ABL found also in acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL).

Entrez GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the BCR gene.
  • Leukemia, acute lymphocytic[1]This link leads to a site outside Genetics Home Reference.
  • Leukemia, chronic myeloid[2]This link leads to a site outside Genetics Home Reference.
UniProt and Entrez Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number		Main Topic
[1]613065This link leads to a site outside Genetics Home Reference.LEUKEMIA, ACUTE LYMPHOBLASTIC
[2]608232This link leads to a site outside Genetics Home Reference.LEUKEMIA, CHRONIC MYELOID
151410This link leads to a site outside Genetics Home Reference.BREAKPOINT CLUSTER REGION

Where is the BCR gene located?

Cytogenetic Location: 22q11.23

Molecular Location on chromosome 22: base pairs 23,522,551 to 23,660,223

The BCR gene is located on the long (q) arm of chromosome 22 at position 11.23.

The BCR gene is located on the long (q) arm of chromosome 22 at position 11.23.

More precisely, the BCR gene is located from base pair 23,522,551 to base pair 23,660,223 on chromosome 22.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about BCR?

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the BCR gene or gene products?

  • ALL
  • BCR1
  • CML
  • D22S11
  • D22S662
  • FLJ16453
  • PHL

See How are genetic conditions and genes named? in the Handbook.

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding BCR?

acute ; acute lymphoblastic leukemia ; acute lymphocytic leukemia ; acute myeloid leukemia ; AML ; chromosome ; chronic ; gene ; gene product ; GTP ; isoforms ; kinase ; leukemia ; myelogenous ; myeloid ; protein ; reciprocal translocation ; serine ; threonine ; threonine kinase ; transcript ; translocation

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: May 21, 2012