CATSPERB
Cation Channel Sperm Associated Auxiliary Subunit Beta
Gene Information Card
| Symbol | CATSPERB |
|---|---|
| Full Name | Cation Channel Sperm Associated Auxiliary Subunit Beta |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.12 |
| NCBI Gene ID | 283232 ncbi.nlm.nih.gov/gene/283232 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9BSW2 |
| OMIM ID | 611124 |
| HGNC ID | 33810 |
| Aliases | CATSPER4, CATSPERBETA |
Description
CATSPERB encodes a beta auxiliary subunit of the CATSPER calcium channel complex, which is specifically expressed in sperm and is required for calcium influx, sperm hyperactivated motility, and male fertility. The protein is located in the sperm flagellum and interacts with other CATSPER subunits to form a functional channel.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility with asthenozoospermia | Loss-of-function mutations in CATSPERB disrupt the CATSPER channel complex, impairing calcium signaling and sperm motility. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected |
| Sperm | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm cells | 0.0 | CATSPERB is specifically expressed in sperm flagellum; nTPM data not available from standard RNA-seq due to low cellular RNA content |
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 function; impairs channel assembly and calcium influx |
| c.1042C>T (p.Arg348*) | Nonsense | Rare | Loss of function; premature truncation of protein |
Mutation functional classification
Loss of Function (LOF)
Mutations in CATSPERB cause loss of CATSPER channel function, leading to defective sperm hyperactivation and male infertility.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:14797 - Sperm motility and capacitation
• REACT:14800 - CATSPER calcium channel complex
Protein Summary
CATSPERB is a 1156-amino acid auxiliary beta subunit of the CATSPER calcium channel complex. It contains a transmembrane domain and intracellular N- and C-termini. The protein is essential for proper assembly and function of the CATSPER channel in the sperm flagellum, regulating calcium entry required for hyperactivated motility and fertilization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CATSPERB Knockout HEK293 Cell Line | EDJ-KQ12739 | Human | 79820 | Details Get a Quote |
| CATSPERB Knockout HeLa Cell Line | EDJ-KQ57236 | Human | 79820 | Details Get a Quote |
| CATSPERB Knockout A-549 Cell Line | EDJ-KQ65748 | Human | 79820 | Details Get a Quote |
| CATSPERB Knockout HCT 116 Cell Line | EDJ-KQ74166 | Human | 79820 | Details Get a Quote |
