CAPRIN2
Chr 12caprin family member 2
Also known as: C1QDC1, EEG-1, EEG1, RNG140
CAPRIN2 encodes a protein that regulates mRNA transport and translation, promotes Wnt signaling pathway activity through LRP6 phosphorylation, and is involved in erythroblast differentiation. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities, presenting in early infancy with severe intellectual disability, seizures, and dystonic movements. The gene shows high constraint against loss-of-function variants (LOEUF 0.38), indicating intolerance to protein-truncating mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
209 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 29 | 0 | 29 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 1 | 133 | 1 | 0 | 135 |
Likely Benign | 0 | 5 | 0 | 1 | 6 |
Benign | 0 | 1 | 2 | 3 | 6 |
| Total | 1 | 139 | 35 | 4 | 179 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CAPRIN2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools