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GeneE
8 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ARK2N
arkadia (RNF111) N-terminal like PKA signaling regulator 2N
Chromosome 18 · 18q21.1
NCBI Gene: 147339Ensembl: ENSG00000152242.12HGNC: HGNC:28172UniProt: Q96B23
52PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
chromatinprotein bindingtranscription corepressor activitynegative regulation of viral life cyclealcohol drinkingautosomal recessive limb-girdle muscular dystrophy type 2Lvertebral joint diseasemyofibrillar myopathy 3
✦AI Summary

ARK2N (C18ORF25) is a multifunctional regulator involved in transcription-coupled DNA repair, muscle physiology, and viral defense. Mechanistically, ARK2N functions as part of an ARK2N-CK2 complex that phosphorylates Cockayne syndrome protein B (CSB), enhancing CSB binding to stalled RNA polymerase II and promoting transcription-coupled nucleotide excision repair (TC-NER) 1. ARK2N serves as an AMPK substrate in skeletal muscle, with phosphorylation at S67 regulating exercise-induced signaling and muscle contractile function 2. Mice lacking Ark2n exhibit reduced muscle fiber size, exercise capacity, and calcium handling defects in fast-twitch fibers 3. In humans, ARK2N expression is significantly higher in power athletes and positively correlates with type IIA oxidative fast-twitch muscle fiber proportion 3. The ARK2N rs6507691 T allele predicts high expression and associates with greater fast-twitch fiber cross-sectional area in strength athletes and world-class strength competitors 3. Clinically, Ark2n knockout mice phenocopy Cockayne syndrome, indicating ARK2N's importance in DNA repair 1. Additionally, ARK2N functions in viral immunity through interaction with CK2β and shares functional homology with ARKL1 in regulating transcription 4. These findings position ARK2N as a critical regulator of skeletal muscle performance and genomic stability.

Sources cited
1
ARK2N-CK2 complex phosphorylates CSB to enhance TC-NER initiation; Ark2n-/- mice exhibit Cockayne syndrome phenotype
PMID: 38843184
2
ARK2N (C18ORF25) is an AMPK substrate phosphorylated at S67 during exercise; regulates skeletal muscle function and contractile protein phosphorylation
PMID: 35882232
3
ARK2N expression higher in power athletes; positively associated with type IIA fiber proportion; rs6507691 T allele associated with greater fast-twitch fiber area and strength athlete status
PMID: 39728465
4
C18orf25/ARKL1 binds CK2β through KSSR motif using polyserine sequences
PMID: 24216761
5
ARKL1 (ARK2N homolog) inhibits c-Jun transcriptional activity via CK2β interaction; suppresses EBV BZLF1 expression and reactivation
PMID: 31341047
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.29Weak
autosomal recessive limb-girdle muscular dystrophy type 2LOpen Targets
0.04Suggestive
vertebral joint diseaseOpen Targets
0.04Suggestive
Distal myotilinopathyOpen Targets
0.04Suggestive
myofibrillar myopathy 3Open Targets
0.04Suggestive
autosomal recessive limb-girdle muscular dystrophy type 2BOpen Targets
0.03Suggestive
autosomal recessive limb-girdle muscular dystrophy type 2GOpen Targets
0.03Suggestive
myopathy, distal, 7, adult-onset, X-linkedOpen Targets
0.03Suggestive
Distal myopathy, Nonaka typeOpen Targets
0.03Suggestive
GNE myopathyOpen Targets
0.03Suggestive
myofibrillar myopathy 11Open Targets
0.03Suggestive
inclusion body myopathy and brain white matter abnormalitiesOpen Targets
0.03Suggestive
inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3Open Targets
0.03Suggestive
myopathy, distal, 6, adult-onset, autosomal dominantOpen Targets
0.03Suggestive
device complicationOpen Targets
0.03Suggestive
Cockayne syndromeOpen Targets
0.02Suggestive
primary angle closure glaucomaOpen Targets
0.02Suggestive
ataxia telangiectasiaOpen Targets
0.01Suggestive
chronic kidney diseaseOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HERC3Shared pathway100%ARIH1Shared pathway100%ANKIB1Shared pathway100%HERC6Shared pathway100%RNF150Shared pathway100%NTAN1Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
61%
Lung
33%
Brain
32%
Ovary
27%
Liver
22%
Gene Interaction Network
Click a node to explore
ARK2NHERC3ARIH1ANKIB1HERC6RNF150NTAN1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q96B23
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.67LoF Tolerant
pLIⓘ
0.10Tolerant
Observed/Expected LoF0.44 [0.30–0.67]
RankingsWhere ARK2N stands among ~20K protein-coding genes
  • #8,528of 20,598
    Most Researched52
  • #4,912of 17,882
    Most Constrained (LOEUF)0.67
Genes detectedARK2N
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Phosphoproteomics of three exercise modalities identifies canonical signaling and C18ORF25 as an AMPK substrate regulating skeletal muscle function.
PMID: 35882232
Cell Metab · 2022
1.00
2
The ARK2N-CK2 complex initiates transcription-coupled repair through enhancing the interaction of CSB with lesion-stalled RNAPII.
PMID: 38843184
Proc Natl Acad Sci U S A · 2024
0.88
3
Toward a Multi-Trait Genetic Panel Targeting Training, Rehabilitation, and Chronic Disease Prevention: A Narrative Review.
PMID: 41300761
Genes (Basel) · 2025
0.75
4
The
PMID: 39728465
Metabolites · 2024
0.63
5
Identification of ARKL1 as a Negative Regulator of Epstein-Barr Virus Reactivation.
PMID: 31341047
J Virol · 2019
0.50