CATSPER2 cation channel sperm associated 2
Gene ID: 117155, updated on 4-Jan-2025Gene type: protein coding
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- Go to complete Gene record for CATSPER2
- Go to Variation Viewer for CATSPER2 variants
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]
Associated conditions
Genomic context
- Location:
- 15q15.3
- Sequence:
- Chromosome: 15; NC_000015.10 (43628503..43648884, complement)
- Total number of exons:
- 14
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for CATSPER2 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CATSPER2 database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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