CATSPER2 Chromosome 15
Cation channel sperm associated 2
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What This Gene Does
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]
Gene Info
Gene Group
"Cation channels sperm associated|CatSpermasome complex"
Locus Type
gene with protein product
Location
15q15.3
Ensembl
ENSG00000166762
Associated Conditions (1)
Infertility disorder
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141352021 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146701338 | Health Risk | Conflicting classifications of pathogenicity | Infertility disorder, Infertility disorder |