ASIC5
Chr 4acid sensing ion channel subunit family member 5
Also known as: ACCN5, BASIC, HINAC, INAC
The protein forms bile acid-gated sodium channels that control sodium transport in intestinal and bile duct epithelial cells, and may regulate electrical activity in cerebellar cells involved in motor coordination and balance. Mutations cause autosomal recessive intellectual disability with seizures and spasticity, typically presenting in early childhood. This gene shows very low constraint against loss-of-function mutations, consistent with autosomal recessive inheritance where heterozygous carriers are typically unaffected.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
122 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 | 1 | 26 | 0 | 27 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 69 | 8 | 0 | 77 |
Likely Benign | 0 | 10 | 1 | 0 | 11 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 80 | 38 | 0 | 118 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ASIC5 · 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