CATSPER2
Cation Channel Sperm Associated 2
Gene Information Card
| Symbol | CATSPER2 |
|---|---|
| Full Name | Cation Channel Sperm Associated 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q15.3 |
| NCBI Gene ID | 117155 ncbi.nlm.nih.gov/gene/117155 |
| Ensembl ID | ENSG00000166762 |
| UniProt ID | Q96P56 |
| OMIM ID | 607249 |
| HGNC ID | 18816 |
| Aliases | CATSPER2, CatSper2, FLJ20035 |
Description
CATSPER2 encodes a member of the cation channel sperm-associated protein family. This protein is a pore-forming subunit of the CatSper calcium channel complex, which is essential for sperm hyperactivation and male fertility. The channel is sperm-specific and localized to the flagellum, regulating calcium influx required for motility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthenozoospermia | Loss-of-function mutations impair calcium influx, reducing sperm motility and causing male infertility. | ClinVar, OMIM |
| Deafness-infertility syndrome (DIS) | Homozygous deletions encompassing CATSPER2 and adjacent genes cause syndromic hearing loss and sperm motility defects. | OMIM #611102, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected (sperm-specific, not in somatic tissues) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm cells | N/A | Expressed specifically in sperm flagellum; not in standard cell lines |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.539G>A (p.Arg180His) | Missense | Rare | Reduced channel activity; associated with asthenozoospermia |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression; pathogenic |
| Deletion of 15q15.3 (including CATSPER2) | Copy number loss | Rare | Causes deafness-infertility syndrome |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations that disrupt calcium channel function, leading to impaired sperm motility.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• CatSper signaling pathway
• Calcium signaling pathway
Protein Summary
CATSPER2 is a 7-transmembrane domain protein that forms part of the CatSper calcium channel complex. It is expressed exclusively in the sperm flagellum and is critical for calcium-dependent sperm hyperactivation and fertilization. The protein interacts with other CatSper subunits (CATSPER1, CATSPER3, CATSPER4) and auxiliary subunits to form a functional channel.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CATSPER2 Knockout HEK293 Cell Line | EDJ-KQ6933 | Human | 117155 | Details Get a Quote |
| CATSPER2 Knockout HCT 116 Cell Line | EDJ-KQ32935 | Human | 117155 | Details Get a Quote |
| CATSPER2 Knockout HeLa Cell Line | EDJ-KQ32936 | Human | 117155 | Details Get a Quote |
| CATSPER2 Knockout A-549 Cell Line | EDJ-KQ66491 | Human | 117155 | Details Get a Quote |
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