PCID2
Chr 13PCI domain containing 2
The protein encoded by this gene is a component of the TREX-2 complex that regulates mRNA export from the nucleus and stabilizes BRCA2 protein, while also controlling B-cell survival through regulation of cell-cycle checkpoint proteins. Mutations cause autosomal recessive primary immunodeficiency with defective B-cell differentiation and increased susceptibility to infections. This gene is not highly constrained against loss-of-function variants, consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
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
250 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 | 114 | 0 | 114 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 1 | 72 | 10 | 0 | 83 |
Likely Benign | 1 | 9 | 0 | 1 | 11 |
Benign | 0 | 1 | 1 | 3 | 5 |
| Total | 2 | 82 | 128 | 4 | 216 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PCID2 · 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