ARK2N

Chr 18

arkadia (RNF111) N-terminal like PKA signaling regulator 2N

Also known as: ARKL1, C18orf25, RNF111L1

NCBI Gene: 147339 ENSG00000152242 UniProt: Q96B23

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.

ResearchSummary from RefSeq, UniProt

Enables transcription corepressor activity. Involved in negative regulation of viral life cycle. Is active in chromatin. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.39

LOEUF

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Mechanism

Some data sources returned errors (1)

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