CATSPERE
protein-codingcatsper channel auxiliary subunit epsilon, the group of Cation channels sperm associated
Gene summary
Predicted to be involved in flagellated sperm motility and sperm capacitation. Located in sperm end piece; sperm midpiece; and sperm principal piece. [provided by Alliance of Genome Resources, Jun 2026]
- C1orf101
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~186.8 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 CATSPERE variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001130957.2. 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 | 1 | 1 | ||||
| missense | 8 | 1 | 9 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 8 | 8 | ||||
| Total | 0 | 0 | 18 | 1 | 0 | 19 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001124429.1 | 22 | MANE Select | |
| Ensembl | ENSP00000355492.4 | 22 | MANE Select | |
| RefSeq | NP_001229269.1 | 15 | Standard | |
| RefSeq | NP_776168.1 | 20 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Cellular Component
- CatSper complex
- sperm principal piece
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000366534
- Coding exons
- 22
- Length
- 186801
- Individuals with no LoFs
- 125703
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 41
- Defined
- 125744
- p
- 0.000163
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.22 | 404 | 479 | 0.843 | 0.0000235 | 6233 |
| Missense (PolyPhen) | 110 | 129.41 | 0.84999 | 1802 | ||
| Synonymous | 1.44 | 142 | 165 | 0.858 | 0.00000817 | 1750 |
| Loss of Function | 2.80 | 26 | 46.6 | 0.558 | 0.00000204 | 646 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00012 | 0.00012 | rare |
| Latino/Admixed American | 0.00015 | 0.00014 | rare |
| Ashkenazi Jewish | 0.00099 | 0.00099 | rare |
| East Asian | 0.000057 | 0.000054 | rare |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.00018 | 0.00018 | rare |
| South Asian | 0.000033 | 0.000033 | rare |
| Other | 0.00016 | 0.00016 | rare |
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. {ECO:0000250|UniProtKB:P0DP43}.;
Intolerance Scores
- RVIS EVS
- 0.85
- RVIS percentile EVS
- 88.48
Essentials
- Essential (gene trap)
- N