CATSPERE

Chr 1

catsper channel auxiliary subunit epsilon

Also known as: C10orf101, C1orf101

NCBI Gene: 257044ENSG00000179397UniProt: Q5SY80OMIM: 617510

The protein is an auxiliary component of the CatSper complex that enables sperm hyperactivation and motility essential for fertilization. Mutations cause male infertility with defective sperm motility, inherited in an autosomal recessive pattern. This gene shows very low constraint against loss-of-function variants, consistent with its male fertility-specific role.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 0.77
Clinical Summary— CATSPERE
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
94 unique Pathogenic / Likely Pathogenic· 27 VUS of 150 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.77LOEUF
pLI 0.000
Z-score 2.80
OE 0.56 (0.41–0.77)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.22Z-score
OE missense 0.84 (0.78–0.92)
404 obs / 479.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.56 (0.41–0.77)
0≤0.351.4
Missense OE0.84 (0.78–0.92)
0≤0.61.4
Synonymous OE0.86
0≤1.21.6
LoF obs/exp: 26 / 46.6Missense obs/exp: 404 / 479.2Syn Z: 1.44
DN
0.6452th %ile
GOF
0.3887th %ile
LOF
0.3259th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

150 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic87
Likely Pathogenic7
VUS27
Likely Benign3
87
Pathogenic
7
Likely Pathogenic
27
VUS
3
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
87
0
87
Likely Pathogenic
0
0
7
0
7
VUS
0
14
13
0
27
Likely Benign
0
2
1
0
3
Benign
0
0
0
0
0
Total0161080124

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CATSPERE · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients