Reviewed November 2015
What is the official name of the BIN1 gene?
The official name of this gene is “bridging integrator 1.”
BIN1 is the gene's official symbol. The BIN1 gene is also known by other names, listed below.
What is the normal function of the BIN1 gene?
The BIN1 gene provides instructions for making a protein that is found in tissues throughout the body, where it interacts with a variety of other proteins. The BIN1 protein is thought to be involved in the transportation of materials from the cell surface into the cell (endocytosis) and the self-destruction of cells (apoptosis). The BIN1 protein may act as a tumor suppressor protein, which means it prevents cells from growing and dividing too rapidly or in an uncontrolled way.
Several different versions (isoforms) of the BIN1 protein are produced from the BIN1 gene. These isoforms vary by size and are active in different tissues. The BIN1 protein isoform that is expressed in muscle cells is thought to be involved in the formation of structures called transverse tubules or T tubules. These structures are found within the membrane of muscle cells, where they play a role in muscle tensing (contraction) and relaxation.
How are changes in the BIN1 gene related to health conditions?
- centronuclear myopathy - caused by mutations in the BIN1 gene
At least 10 mutations in the BIN1 gene have been found to cause centronuclear myopathy, a condition that is characterized by muscle weakness (myopathy) in the skeletal muscles, which are the muscles used for movement. Most of these mutations change single protein building blocks (amino acids) in the BIN1 protein. BIN1 gene mutations result in the production of a protein that cannot form T tubules. A shortage of T tubules in muscle fibers alters their structure, which prevents them from contracting and relaxing normally. The abnormal muscle fibers underlie the muscle weakness characteristic of centronuclear myopathy.
Where is the BIN1 gene located?
Cytogenetic Location: 2q14
Molecular Location on chromosome 2: base pairs 127,048,023 to 127,107,400
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/274))
The BIN1 gene is located on the long (q) arm of chromosome 2 at position 14.
More precisely, the BIN1 gene is located from base pair 127,048,023 to base pair 127,107,400 on chromosome 2.
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 BIN1?
You and your healthcare professional may find the following resources about BIN1 helpful.
Educational resources - Information pages
- Molecular Biology of the Cell (fourth edition, 2002): T tubules and the sarcoplasmic reticulum (http://www.ncbi.nlm.nih.gov/books/NBK26888/?rendertype=figure&id=A3072)
- Washington University, St. Louis: Neuromuscular Disease Center: Centronuclear Myopathy, Autosomal Recessive (http://neuromuscular.wustl.edu/syncm.html)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for BIN1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=274%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28BIN1%5BTIAB%5D%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/601248)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/BIN1ID794ch2q14.html)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=1052)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/274)
What other names do people use for the BIN1 gene or gene products?
- amphiphysin II
- amphiphysin-like protein
- box-dependent myc-interacting protein 1
- myc box-dependent-interacting protein 1
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 BIN1?
muscle cells ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Böhm J, Biancalana V, Malfatti E, Dondaine N, Koch C, Vasli N, Kress W, Strittmatter M, Taratuto AL, Gonorazky H, Laforêt P, Maisonobe T, Olivé M, Gonzalez-Mera L, Fardeau M, Carrière N, Clavelou P, Eymard B, Bitoun M, Rendu J, Fauré J, Weis J, Mandel JL, Romero NB, Laporte J. Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. Brain. 2014 Dec;137(Pt 12):3160-70. doi: 10.1093/brain/awu272. Epub 2014 Sep 25. (http://www.ncbi.nlm.nih.gov/pubmed/25260562?dopt=Abstract)
- OMIM: BRIDGING INTEGRATOR 1 (http://omim.org/entry/601248)
- Jungbluth H, Gautel M. Pathogenic mechanisms in centronuclear myopathies. Front Aging Neurosci. 2014 Dec 19;6:339. doi: 10.3389/fnagi.2014.00339. eCollection 2014. Review. (http://www.ncbi.nlm.nih.gov/pubmed/25566070?dopt=Abstract)
- Jungbluth H, Wallgren-Pettersson C, Laporte J. Centronuclear (myotubular) myopathy. Orphanet J Rare Dis. 2008 Sep 25;3:26. doi: 10.1186/1750-1172-3-26. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18817572?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/274)
- Nicot AS, Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C, Iwarsson E, Kingston H, Garnier JM, Biancalana V, Oldfors A, Mandel JL, Laporte J. Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet. 2007 Sep;39(9):1134-9. Epub 2007 Aug 5. (http://www.ncbi.nlm.nih.gov/pubmed/17676042?dopt=Abstract)
- Romero NB. Centronuclear myopathies: a widening concept. Neuromuscul Disord. 2010 Apr;20(4):223-8. doi: 10.1016/j.nmd.2010.01.014. Epub 2010 Feb 23. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20181480?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.