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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.
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.
The CATSPER2 gene belongs to a family of genes called CATSPER (CatSper channels).
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.
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.
Cytogenetic Location: 15q15.3
Molecular Location on chromosome 15: base pairs 43,630,561 to 43,648,844
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 43,630,561 to base pair 43,648,844 on chromosome 15.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about CATSPER2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
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://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.