ARK2N
Chr 18arkadia (RNF111) N-terminal like PKA signaling regulator 2N
Also known as: ARKL1, C18orf25, RNF111L1
This protein functions as an AMPK substrate important for exercise capacity and skeletal muscle function, and is required for normal contraction-induced signaling. The gene is highly constrained against loss-of-function variants (pLI 0.89, LOEUF 0.39), suggesting mutations would likely cause severe disease. However, no specific disease phenotypes associated with ARK2N mutations are currently established in clinical databases.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
60 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 45 |
Likely Pathogenic | — | — | — | — | 2 |
VUS | — | — | — | — | 3 |
Likely Benign | — | — | — | — | 1 |
Benign | — | — | — | — | 0 |
| Total | — | 51 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ARK2N · 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