CATSPER2

cation channel sperm associated 2

Summary

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]

Known Variants60 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2915776	15:43,922,586	T/C	—	benign
rs28366727	15:43,924,174	C/G	—	benign
rs190482876	15:43,924,349	C/T	—	likely benign
rs2085884803	15:43,924,414	T/A	—	uncertain significance
rs568471736	15:43,924,417	T/A	—	uncertain significance
rs377026307	15:43,924,466	G/A	—	uncertain significance
rs199872468	15:43,924,520	C/T	—	uncertain significance
rs139541328	15:43,924,522	G/A	—	uncertain significance
rs542033034	15:43,924,559	G/A	—	uncertain significance
rs140896505	15:43,924,590	C/T	—	benign
rs56226333	15:43,924,608	T/C	—	benign
rs2920781	15:43,924,682	G/A	—	benign
rs140242525	15:43,924,970	G/T	—	likely benign
rs2507624477	15:43,924,996	C/T	—	likely benign
rs143154095	15:43,925,092	A/T	—	benign
rs7169097	15:43,925,134	T/A	—	benign
rs199882327	15:43,925,135	T/G	—	benign
rs7167634	15:43,925,140	A/G	—	benign
rs7169112	15:43,925,147	T/G	—	benign
rs12898584	15:43,927,370	T/C	—	benign
rs374107739	15:43,927,561	T/G	—	uncertain significance
rs143143156	15:43,927,563	C/A	—	likely benign
rs148320269	15:43,927,973	C/T	—	benign
rs376522370	15:43,928,019	T/C	—	uncertain significance
rs146701338	15:43,928,340	C/G	—	conflicting classifications of pathogenicity
rs200270829	15:43,928,345	G/A	—	likely benign
rs750782349	15:43,928,356	G/C	—	uncertain significance
rs199516208	15:43,931,101	C/G	—	uncertain significance
rs539776990	15:43,931,120	T/C	—	uncertain significance
rs749767558	15:43,931,132	C/A	—	uncertain significance
rs1047098503	15:43,931,153	G/A	—	uncertain significance
rs777246065	15:43,931,183	A/G	—	uncertain significance
rs772431410	15:43,931,206	C/T	—	uncertain significance
rs11857661	15:43,931,406	G/T	—	benign
rs35740631	15:43,931,732	G/A	—	benign
rs2507661364	15:43,931,846	G/A	—	uncertain significance
rs2507661685	15:43,931,876	G/T	—	uncertain significance
rs141352021	15:43,931,884	C/T	—	conflicting classifications of pathogenicity
rs11638719	15:43,931,906	G/C	—	likely benign
rs541095848	15:43,931,953	T/C	—	uncertain significance
rs12443102	15:43,932,103	G/C	—	benign
rs2442944	15:43,932,171	A/C	—	benign
rs138398505	15:43,932,641	C/A	—	uncertain significance
rs569089602	15:43,932,701	A/G	—	likely benign
rs139097404	15:43,933,941	T/C	upstream gene variant	—
rs143907962	15:43,939,265	A/G	—	uncertain significance
rs562241915	15:43,939,284	C/T	—	likely benign
rs779736058	15:43,939,518	G/A	—	uncertain significance
rs755885533	15:43,939,591	T/C	—	likely benign
rs780754672	15:43,939,594	G/A	—	uncertain significance
rs8042868	15:43,939,642	C/T	—	benign
rs146109978	15:43,939,659	G/A	—	uncertain significance
rs2507701237	15:43,939,665	T/G	—	uncertain significance
rs747443885	15:43,940,139	G/A	—	uncertain significance
rs376157637	15:43,940,153	C/T	—	uncertain significance
rs776100141	15:43,940,191	G/C	—	uncertain significance
rs371412947	15:43,940,204	C/T	—	uncertain significance
rs1396069392	15:43,940,223	G/A	—	uncertain significance
rs777705688	15:43,940,228	T/C	—	uncertain significance
rs2470122	15:43,941,125	C/G	—	benign

Gene information from NCBI Gene. Variant classifications from ClinVar.