CATSPERZ
protein-codingcatsper channel auxiliary subunit zeta, the group of Cation channels sperm associated
Gene summary
Predicted to be involved in flagellated sperm motility; male meiotic nuclear division; and sperm capacitation. Located in cytoplasm; sperm midpiece; and sperm principal piece. [provided by Alliance of Genome Resources, Jun 2026]
- C11orf20
- TEX40
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~4.4 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to CATSPERZ variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001039496.2. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 34 | 4 | 38 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 35 | 4 | 0 | 39 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001034585.1 | 5 | MANE Select | |
| Ensembl | ENSP00000491717.1 | 5 | MANE Select | |
| Ensembl | ENSP00000443917.1 | 4 | Standard | |
| Ensembl | ENSP00000752258.1 | 3 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- male meiotic nuclear division
- spermatogenesis
- flagellated sperm motility
- sperm capacitation
Cellular Component
- cytoplasm
- CatSper complex
- sperm principal piece
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000328404
- Coding exons
- 5
- Length
- 4380
- Individuals with no LoFs
- 113681
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 1
- Defined
- 113682
- p
- 0.00000440
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.516 | 93 | 108 | 0.860 | 0.00000506 | 1269 |
| Missense (PolyPhen) | 12 | 19.018 | 0.63098 | 237 | ||
| Synonymous | 1.77 | 31 | 46.3 | 0.669 | 0.00000216 | 363 |
| Loss of Function | 1.54 | 4 | 8.99 | 0.445 | 4.47e-7 | 102 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.0000098 | 0.0000098 | rare |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for a distribution of the CatSper complex in linear quadrilateral nanodomains along the flagellum, maximizing fertilization inside the mammalian female reproductive tract. {ECO:0000250|UniProtKB:Q9CQP8}.;