ADCK2 Gene - Atypical Kinase Domain-Containing Protein 2
Comprehensive gene overview of ADCK2: function, expression, mutations, and associated diseases
Gene Information Card
| Symbol | ADCK2 |
|---|---|
| Full Name | aarF domain containing kinase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q34 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000106031 |
| UniProt ID | Q96C01 |
| OMIM ID | 614569 |
| HGNC ID | 217 |
| Aliases | CABC1, COQ8B, COQ10D2 |
Description
ADCK2 (aarF domain containing kinase 2) encodes a mitochondrial protein belonging to the atypical kinase family. It is involved in coenzyme Q10 biosynthesis and mitochondrial respiratory chain function. Mutations in ADCK2 are associated with primary coenzyme Q10 deficiency and related disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary coenzyme Q10 deficiency 2 | Impaired coenzyme Q10 biosynthesis due to ADCK2 mutations leads to mitochondrial dysfunction | ClinVar, OMIM |
| Mitochondrial encephalopathy | Defective oxidative phosphorylation secondary to CoQ10 deficiency | ClinVar, OMIM |
| Nephrotic syndrome | CoQ10 deficiency affects renal podocyte function | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 8.3 | Medium |
| Kidney | 6.1 | Low |
| Liver | 4.2 | Low |
| Brain | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| HeLa | 7.5 | Moderate expression |
| HepG2 | 5.1 | Low expression |
| K562 | 3.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.737G>A (p.Arg246His) | Missense | Rare | Reduced CoQ10 biosynthesis |
| c.1042C>T (p.Arg348Trp) | Missense | Rare | Impaired mitochondrial function |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish ADCK2 kinase activity, impairing CoQ10 synthesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion | • ATP binding |
| • protein kinase activity | • coenzyme Q biosynthetic process |
| • mitochondrial respiratory chain complex I assembly |
Pathways
• Coenzyme Q10 biosynthesis
• Mitochondrial respiratory chain
• Ubiquinone metabolism
Protein Summary
ADCK2 is a mitochondrial atypical kinase that phosphorylates proteins involved in coenzyme Q10 biosynthesis. It is essential for proper electron transport chain function and ATP production. Mutations cause primary CoQ10 deficiency, leading to multisystem disorders including encephalopathy and nephropathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADCK2 Knockout HEK293 Cell Line | EDJ-KQ10678 | Human | 90956 | Details Get a Quote |
| ADCK2 Knockout A-549 Cell Line | EDJ-KQ38209 | Human | 90956 | Details Get a Quote |
| ADCK2 Knockout HeLa Cell Line | EDJ-KQ38210 | Human | 90956 | Details Get a Quote |
| ADCK2 Knockout HCT 116 Cell Line | EDJ-KQ36907 | Human | 90956 | Details Get a Quote |
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