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Genetics Home Reference: your guide to understanding genetic conditions
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ANO gene family

Reviewed April 2014

What are the ANO genes?

Genes in the ANO gene family provide instructions for making proteins called anoctamins. These proteins are found in the outer membrane that surrounds cells or in the membranes of various structures called organelles inside cells. The function of all anoctamins has not been fully explored, but most anoctamins form chloride channels that, when opened by the presence of calcium, allow charged chlorine atoms (chloride ions) to flow in or out of the cell or organelle. In addition to chloride, anoctamins can sometimes transport other ions, including potassium and calcium. Because anoctamins are opened by calcium, they are known as calcium-activated chloride channels, although the mechanism for this activation is unclear.

In addition to being opened by calcium, anoctamins can be opened if the cell becomes too big. The release of chloride ions triggers the release of water from the cell, decreasing cell volume.

Anoctamins are mainly found in cells that line the surfaces of the body (epithelial cells), including cells that line the airways and intestines. They are also found in nerve cells and muscle cells. Anoctamins are involved in releasing water from cells, cell-to-cell communication, and muscle tensing (contraction).

Mutations in ANO genes are generally associated with impaired function of the cells in which they are found. For example, mutations in the ANO5 gene, which is primarily found in muscle cells, lead to a condition called limb-girdle muscular dystrophy type 2L. This condition is characterized by muscle weakness and wasting (atrophy), particularly in the shoulders, hips, thighs, and upper arms.

Which genes are included in the ANO gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides an index of gene families (http://www.genenames.org/cgi-bin/genefamilies/) and their member genes.

Genetics Home Reference summarizes the normal function and health implications of this member of the ANO gene family: ANO5.

What conditions are related to genes in the ANO gene family?

Genetics Home Reference includes these conditions related to genes in the ANO gene family:

  • gnathodiaphyseal dysplasia
  • limb-girdle muscular dystrophy
  • Miyoshi myopathy

Where can I find additional information about the ANO gene family?

You may find the following resources about the ANO gene family helpful.

  • Sanger Institute: Pfam (http://pfam.sanger.ac.uk/family/PF04547) (The Wellcome Trust)

What glossary definitions help with understanding the ANO gene family?

atrophy ; calcium ; cell ; chloride ; chloride channels ; contraction ; epithelial ; gene ; ions ; muscle cells ; muscular dystrophy ; organelle ; potassium ; wasting

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

References

These sources were used to develop the Genetics Home Reference summary for the ANO gene family.

  • Tian Y, Schreiber R, Kunzelmann K. Anoctamins are a family of Ca2+-activated Cl- channels. J Cell Sci. 2012 Nov 1;125(Pt 21):4991-8. doi: 10.1242/jcs.109553. Epub 2012 Sep 3. (http://www.ncbi.nlm.nih.gov/pubmed/22946059?dopt=Abstract)
  • Duran C, Qu Z, Osunkoya AO, Cui Y, Hartzell HC. ANOs 3-7 in the anoctamin/Tmem16 Cl- channel family are intracellular proteins. Am J Physiol Cell Physiol. 2012 Feb 1;302(3):C482-93. doi: 10.1152/ajpcell.00140.2011. Epub 2011 Nov 9. (http://www.ncbi.nlm.nih.gov/pubmed/22075693?dopt=Abstract)
  • Scudieri P, Sondo E, Ferrera L, Galietta LJ. The anoctamin family: TMEM16A and TMEM16B as calcium-activated chloride channels. Exp Physiol. 2012 Feb;97(2):177-83. doi: 10.1113/expphysiol.2011.058198. Epub 2011 Oct 7. (http://www.ncbi.nlm.nih.gov/pubmed/21984732?dopt=Abstract)
  • Kunzelmann K, Tian Y, Martins JR, Faria D, Kongsuphol P, Ousingsawat J, Thevenod F, Roussa E, Rock J, Schreiber R. Anoctamins. Pflugers Arch. 2011 Aug;462(2):195-208. doi: 10.1007/s00424-011-0975-9. Epub 2011 May 21. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21607626?dopt=Abstract)
  • Kunzelmann K, Schreiber R, Kmit A, Jantarajit W, Martins JR, Faria D, Kongsuphol P, Ousingsawat J, Tian Y. Expression and function of epithelial anoctamins. Exp Physiol. 2012 Feb;97(2):184-92. doi: 10.1113/expphysiol.2011.058206. Epub 2011 Sep 9. (http://www.ncbi.nlm.nih.gov/pubmed/21908539?dopt=Abstract)
  • Milenkovic VM, Brockmann M, Stöhr H, Weber BH, Strauss O. Evolution and functional divergence of the anoctamin family of membrane proteins. BMC Evol Biol. 2010 Oct 21;10:319. doi: 10.1186/1471-2148-10-319. (http://www.ncbi.nlm.nih.gov/pubmed/20964844?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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: April 2014
Published: May 18, 2015