BCL9

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

What is the official name of the BCL9 gene?

The official name of this gene is “B-cell CLL/lymphoma 9.”

BCL9 is the gene's official symbol. The BCL9 gene is also known by other names, listed below.

What is the normal function of the BCL9 gene?

From Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/607):: BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008]
From UniProt (http://www.uniprot.org/uniprot/O00512):: Involved in signal transduction through the Wnt pathway. Promotes beta-catenin's transcriptional activity.; NOTE: UniProt (http://www.uniprot.org/uniprot/O00512) suggests using caution when interpreting this information.

How are changes in the BCL9 gene related to health conditions?

Genetics Home Reference provides information about 1q21.1 microdeletion, which is associated with changes in the BCL9 gene.

UniProt (http://www.uniprot.org/uniprot/O00512) provides the following information about the BCL9 gene's known or predicted involvement in human disease.

Note=A chromosomal aberration involving BCL9 is found in a patient with precusor B-cell acute lymphoblastic leukemia (ALL). Translocation t(1;14)(q21;q32). This translocation leaves the coding region intact, but may have pathogenic effects due to alterations in the expression level of BCL9. Several cases of translocations within the 3'-UTR of BCL9 have been found in B-cell malignancies.

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
	602597 (http://omim.org/entry/602597)	B-CELL CLL/LYMPHOMA 9

Where is the BCL9 gene located?

Cytogenetic Location: 1q21

Molecular Location on chromosome 1: base pairs 147,013,181 to 147,098,016

The BCL9 gene is located on the long (q) arm of chromosome 1 at position 21.

More precisely, the BCL9 gene is located from base pair 147,013,181 to base pair 147,098,016 on chromosome 1.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about BCL9?

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

OMIM - Genetic disorder catalog (http://omim.org/entry/602597)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/BCL9ID466.html)
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/607)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id=607&id_type=entrezgene)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=1008)
- UniProt (http://www.uniprot.org/uniprot/O00512)

What other names do people use for the BCL9 gene or gene products?

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding BCL9?

acute ; acute lymphoblastic leukemia ; cell ; coding region ; leukemia ; signal transduction ; transduction ; translocation

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.



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