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6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ADCK2
aarF domain containing kinase 2
Chromosome 7 · 7q34
NCBI Gene: 90956Ensembl: ENSG00000133597.12HGNC: HGNC:19039UniProt: A4D1T6
26PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingregulation of ubiquinone biosynthetic processmitochondrionmembraneneurodegenerative diseaseNon-Neoplastic Bile Duct DisorderhyperparathyroidismAbnormal blistering of the skin
✦AI Summary

ADCK2 is a mitochondrial aarF domain-containing kinase that plays a critical role in coenzyme Q (CoQ) biosynthesis and cellular bioenergetics 12. Primary function: ADCK2 regulates mitochondrial CoQ precursor import and is essential for maintaining mitochondrial respiratory capacity and fatty acid β-oxidation in skeletal muscle 2. Mechanism: ADCK2 haploinsufficiency reduces CoQ biosynthesis, impairing mitochondrial energy production and metabolic capacity 1. The protein operates through non-conventional signaling pathways, including RELB-dependent NFκB signaling and superoxide regulation 3. Disease relevance: ADCK2 deficiency causes adult-onset mitochondrial myopathy characterized by muscle weakness, lipid accumulation, and reduced physical performance 2. Notably, prenatal ADCK2 haploinsufficiency causes developmental delays, with defects detectable during embryonic development and progressive muscle wasting with aging 1. Clinical significance: ADCK2 is overexpressed in non-small cell lung cancer (NSCLC), correlating with poor survival and immunotherapy resistance; ADCK2 depletion suppresses cancer cell viability through Akt-mTOR pathway inactivation 4. CoQ10 supplementation provides partial therapeutic benefit for CoQ deficiency, with greatest efficacy when initiated prenatally or during development 1.

Sources cited
1
ADCK2 haploinsufficiency causes embryonic defects, progressive muscle wasting, and reduced CoQ levels; prenatal CoQ10 supplementation mitigates these effects
PMID: 39354863
2
ADCK2 is involved in CoQ biosynthesis and mitochondrial fatty acid oxidation; haploinsufficiency causes mitochondrial myopathy with lipid accumulation
PMID: 31480808
3
ADCK2 is overexpressed in NSCLC, promoting cancer cell growth through Akt-mTOR signaling; ADCK2 depletion suppresses tumor growth
PMID: 36439873
4
ADCK2 regulates TNFα-induced HIF-1α accumulation through RELB-dependent NFκB signaling and superoxide activity
PMID: 22355351
5
ADCK family proteins regulate CoQ biosynthesis, energy production, and mitochondrial homeostasis; dysregulation links to cancers and metabolic disorders
PMID: 40565246
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.39Weak
Non-Neoplastic Bile Duct DisorderOpen Targets
0.28Weak
hyperparathyroidismOpen Targets
0.27Weak
Abnormal blistering of the skinOpen Targets
0.27Weak
non-small cell lung carcinomaOpen Targets
0.08Suggestive
melanomaOpen Targets
0.07Suggestive
attention deficit hyperactivity disorderOpen Targets
0.07Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.05Suggestive
attention deficit-hyperactivity disorder 8Open Targets
0.05Suggestive
Potocki-Lupski syndromeOpen Targets
0.05Suggestive
Tourette syndromeOpen Targets
0.05Suggestive
autismOpen Targets
0.05Suggestive
schizophrenia 15Open Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
X-linked dominant intellectual disability - epilepsy syndromeOpen Targets
0.03Suggestive
Phelan-McDermid syndromeOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
autosomal recessive limb-girdle muscular dystrophy type 2LOpen Targets
0.03Suggestive
breast neuroendocrine neoplasmOpen Targets
0.03Suggestive
myopathyOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
COQ3Protein interaction84%COQ8AProtein interaction77%COQ8BProtein interaction72%
Tissue Expression6 tissues
Brain
100%
Ovary
72%
Liver
70%
Lung
64%
Bone Marrow
55%
Heart
55%
Gene Interaction Network
Click a node to explore
ADCK2COQ3COQ8ACOQ8B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q7Z695
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.92LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.70 [0.54–0.92]
RankingsWhere ADCK2 stands among ~20K protein-coding genes
  • #12,725of 20,598
    Most Researched26
  • #8,465of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedADCK2
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Prenatal and progressive coenzyme Q
PMID: 39354863
J Cachexia Sarcopenia Muscle · 2024
1.00
2
Identification of the mitochondrial protein ADCK2 as a therapeutic oncotarget of NSCLC.
PMID: 36439873
Int J Biol Sci · 2022
0.83
3
PMID: 31480808
J Clin Med · 2019
0.67
4
Therapeutic predictors of neoadjuvant endocrine therapy response in estrogen receptor-positive breast cancer with reference to optimal gene expression profiling.
PMID: 30151737
Breast Cancer Res Treat · 2018
0.50
5
Kinome-wide functional genomics screen reveals a novel mechanism of TNFα-induced nuclear accumulation of the HIF-1α transcription factor in cancer cells.
PMID: 22355351
PLoS One · 2012
0.33