ERP44
Chr 9ADARendoplasmic reticulum protein 44
Also known as: PDIA10, TXNDC4
This protein functions as a pH-regulated chaperone in the endoplasmic reticulum, mediating thiol-dependent retention of proteins in the early secretory pathway and inhibiting calcium channel activity. Mutations cause Gillespie syndrome, spinocerebellar ataxias (types 15 and 29), and congenital nonprogressive spinocerebellar ataxia with both autosomal dominant and autosomal recessive inheritance patterns. The gene is highly constrained against loss-of-function variants (pLI = 0.99), indicating that such variants are likely to be pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
91 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 | 31 | 0 | 31 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 0 | 38 | 6 | 0 | 44 |
Likely Benign | 0 | 1 | 0 | 0 | 1 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 39 | 41 | 0 | 80 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ERP44 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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