CATSPERD
protein-codingcation channel sperm associated auxiliary subunit delta, the group of Cation channels sperm associated
Gene summary
Predicted to be involved in flagellated sperm motility and sperm capacitation. Predicted to be located in plasma membrane. Predicted to be part of CatSper complex. Predicted to be active in sperm principal piece. [provided by Alliance of Genome Resources, Jul 2025]
- TMEM146
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~58.1 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 CATSPERD variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_152784.4. 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 | 2 | 3 | |||
| missense | 124 | 14 | 138 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 2 | 2 | ||||
| Total | 0 | 0 | 127 | 16 | 0 | 143 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_689997.3 | 22 | MANE Select | |
| Ensembl | ENSP00000371037.3 | 22 | MANE Select | |
| RefSeq | XP_011526187.1 | 23 | Standard | |
| RefSeq | XP_011526188.1 | 23 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Fertilization
- Reproduction
- Sperm Motility And Taxes
Biological Process
- multicellular organism development
- spermatogenesis
- flagellated sperm motility
- sperm-egg recognition
- sperm capacitation
Molecular Function
- protein binding
Cellular Component
- plasma membrane
- CatSper complex
- sperm principal piece
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000381624
- Coding exons
- 22
- Length
- 58058
- Individuals with no LoFs
- 124673
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 132
- Defined
- 124805
- p
- 0.000529
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.227 | 452 | 466 | 0.970 | 0.0000266 | 5216 |
| Missense (PolyPhen) | 139 | 156.41 | 0.88867 | 1868 | ||
| Synonymous | -1.23 | 218 | 196 | 1.11 | 0.0000130 | 1517 |
| Loss of Function | 1.97 | 29 | 43.0 | 0.675 | 0.00000192 | 511 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00052 | 0.00052 | rare |
| Latino/Admixed American | 0.00067 | 0.00067 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.0012 | 0.0012 | notable |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00058 | 0.00057 | rare |
| South Asian | 0.00036 | 0.00036 | rare |
| Other | 0.00050 | 0.00049 | 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. Required for CATSPER1 stability before intraflagellar transport and/or incorporation of the CatSper complex channel into the flagellar membrane. {ECO:0000250|UniProtKB:E9Q9F6}.;
Intolerance Scores
- RVIS EVS
- 1.9
- RVIS percentile EVS
- 97.35
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.114
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |