CATSPER3
Cation Channel Sperm Associated 3
Gene Information Card
| Symbol | CATSPER3 |
|---|---|
| Full Name | Cation Channel Sperm Associated 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 347732 ncbi.nlm.nih.gov/gene/347732 |
| Ensembl ID | ENSG00000164171 |
| UniProt ID | Q86XQ3 |
| OMIM ID | 609120 |
| HGNC ID | 20817 |
| Aliases | CATSPER3, CatSper3, FLJ23556 |
Description
CATSPER3 (Cation Channel Sperm Associated 3) encodes a pore-forming subunit of the sperm-specific calcium channel CatSper, essential for sperm hyperactivation and male fertility. The protein is localized to the principal piece of the sperm flagellum and mediates calcium influx required for motility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility with asthenozoospermia | Loss-of-function mutations in CATSPER3 disrupt CatSper channel activity, impairing sperm hyperactivation and motility | ClinVar, OMIM |
| Spermatogenic failure 9 | Homozygous or compound heterozygous variants in CATSPER3 cause autosomal recessive spermatogenic failure | OMIM #615841 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.8 | High |
| Fallopian tube | 0.2 | Not detected |
| Prostate | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm cells | N/A | High expression in mature sperm flagellum |
| Testicular germ cells | N/A | Expressed in spermatids and spermatozoa |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.539G>A (p.Arg180His) | Missense | Rare | Loss of channel function |
| c.1042C>T (p.Arg348*) | Nonsense | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported CATSPER3 mutations are loss-of-function, leading to impaired calcium influx and sperm motility defects.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CATSPER3.
Dominant Negative (DN)
No dominant-negative effects have been described; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• CatSper signaling pathway
• Calcium signaling pathway (sperm-specific)
Protein Summary
CATSPER3 is a 686-amino acid transmembrane protein with six helical domains, forming a calcium-selective pore. It assembles with other CatSper subunits (CATSPER1, 2, 4) to constitute the functional channel. The protein is essential for sperm hyperactivated motility and fertilization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CATSPER3 Knockout HEK293 Cell Line | EDJ-KQ12737 | Human | 347732 | Details Get a Quote |
| CATSPER3 Knockout A-549 Cell Line | EDJ-KQ41839 | Human | 347732 | Details Get a Quote |
| CATSPER3 Knockout HCT 116 Cell Line | EDJ-KQ41840 | Human | 347732 | Details Get a Quote |
| CATSPER3 Knockout HeLa Cell Line | EDJ-KQ59825 | Human | 347732 | Details Get a Quote |
