Aliases for CATSPER2 Gene
External Ids for CATSPER2 Gene
Previous GeneCards Identifiers for CATSPER2 Gene
This gene encodes a member of a family of cation channel proteins that localize to the flagellum of spermatozoa. Defects at this locus causes male infertility. Alternatively spliced transcript variants have been observed at this locus. Readthrough transcription originates upstream of this locus in diphosphoinositol pentakisphosphate kinase 1 pseudogene 1 and is represented by GeneID:110006325. Related pseudogenes are found next to this locus on chromosome 15 and on chromosome 5. [provided by RefSeq, Mar 2017]
GeneCards Summary for CATSPER2 Gene
CATSPER2 (Cation Channel Sperm Associated 2) is a Protein Coding gene. Diseases associated with CATSPER2 include Deafness-Infertility Syndrome and Rare Genetic Deafness. Among its related pathways are Reproduction and Sweet Taste Signaling. Gene Ontology (GO) annotations related to this gene include ion channel activity and voltage-gated ion channel activity. An important paralog of this gene is SCN3A.
UniProtKB/Swiss-Prot Summary for CATSPER2 Gene
Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte.