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Genetics Home Reference: your guide to understanding genetic conditions
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CATSPER2

Reviewed April 2010

What is the official name of the CATSPER2 gene?

The official name of this gene is “cation channel, sperm associated 2.”

CATSPER2 is the gene's official symbol. The CATSPER2 gene is also known by other names, listed below.

What is the normal function of the CATSPER2 gene?

The CATSPER2 gene provides instructions for producing a protein that is found in the tail (flagellum) of sperm cells. The CATSPER2 protein plays a role in sperm cell movement (motility) and is required for sperm cells to push through the outside membrane of the egg cell during fertilization. The CATSPER2 protein is embedded in the membrane of the sperm tail and is necessary in order for positively charged calcium atoms (calcium cations) to enter the cell. Calcium cations are needed for a type of sperm motility called hyperactivation. Hyperactivation is characterized by vigorous movements of the sperm tail, which are required for the sperm to push through the membrane of the egg cell during fertilization.

Does the CATSPER2 gene share characteristics with other genes?

The CATSPER2 gene belongs to a family of genes called CATSPER (cation channels, sperm associated).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the CATSPER2 gene related to health conditions?

sensorineural deafness and male infertility - associated with the CATSPER2 gene

The symptoms of sensorineural deafness and male infertility are caused by a deletion of genetic material on the long (q) arm of chromosome 15. The chromosomal region that is typically deleted contains multiple genes, including the CATSPER2 gene. People with this condition have the deletion in both copies of chromosome 15 in each cell. As a result of the deletion, affected individuals are missing both copies of the CATSPER2 gene, and no CATSPER2 protein is produced. A lack of CATSPER2 protein impairs calcium entry into the sperm cell, which decreases motility and prevents hyperactivation. Lack of hyperactivation results in sperm that are unable to push through the membrane of the egg cell and achieve fertilization. These sperm abnormalities are the cause of infertility in affected males.

Where is the CATSPER2 gene located?

Cytogenetic Location: 15q15.3

Molecular Location on chromosome 15: base pairs 43,922,771 to 43,941,038

The CATSPER2 gene is located on the long (q) arm of chromosome 15 at position 15.3.

The CATSPER2 gene is located on the long (q) arm of chromosome 15 at position 15.3.

More precisely, the CATSPER2 gene is located from base pair 43,922,771 to base pair 43,941,038 on chromosome 15.

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 CATSPER2?

You and your healthcare professional may find the following resources about CATSPER2 helpful.

  • Educational resources - Information pages
    Developmental Biology (sixth edition, 2000): Action at a Distance: Mammalian Gametes (http://www.ncbi.nlm.nih.gov/books/NBK10010/?rendertype=box&id=A1381)
  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK22925/)

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=(CATSPER2%5BTIAB%5D)%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/607249)

  • Research Resources - Tools for researchers

    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/117155)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=117155)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=18810)

What other names do people use for the CATSPER2 gene or gene products?

  • cation channel sperm-associated protein 2
  • CTSR2_HUMAN
  • sperm ion channel

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 CATSPER2?

calcium ; cation ; cell ; channel ; chromosome ; deletion ; egg ; gene ; infertility ; protein ; sensorineural ; sperm

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

References

  • Avidan N, Tamary H, Dgany O, Cattan D, Pariente A, Thulliez M, Borot N, Moati L, Barthelme A, Shalmon L, Krasnov T, Ben-Asher E, Olender T, Khen M, Yaniv I, Zaizov R, Shalev H, Delaunay J, Fellous M, Lancet D, Beckmann JS. CATSPER2, a human autosomal nonsyndromic male infertility gene. Eur J Hum Genet. 2003 Jul;11(7):497-502. (http://www.ncbi.nlm.nih.gov/pubmed/12825070?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/117155)
  • OMIM: CATION CHANNEL, SPERM-ASSOCIATED, 2 (http://omim.org/entry/607249)
  • Quill TA, Sugden SA, Rossi KL, Doolittle LK, Hammer RE, Garbers DL. Hyperactivated sperm motility driven by CatSper2 is required for fertilization. Proc Natl Acad Sci U S A. 2003 Dec 9;100(25):14869-74. Epub 2003 Dec 1. (http://www.ncbi.nlm.nih.gov/pubmed/14657366?dopt=Abstract)
  • Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Lohr NJ, Mohseni M, Mojahedi F, Daneshi A, Najmabadi H, Smith RJ. Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. J Med Genet. 2007 Apr;44(4):233-40. Epub 2006 Nov 10. Erratum in: J Med Genet. 2007 Aug;44(8):544. Lohr, Naomi J [added]. (http://www.ncbi.nlm.nih.gov/pubmed/17098888?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 2010
Published: May 20, 2013