ADK (Adenosine Kinase) Gene
A key regulator of adenosine metabolism and cellular energy homeostasis
Gene Information Card
| Symbol | ADK |
|---|---|
| Full Name | Adenosine Kinase |
| Gene Type | Protein coding |
| Chromosomal Location | 10q22.2 |
| NCBI Gene ID | 132 ncbi.nlm.nih.gov/gene/132 |
| Ensembl ID | ENSG00000117407 |
| UniProt ID | P55263 |
| OMIM ID | 102750 |
| HGNC ID | 257 |
| Aliases | AK, MGC4723, MGC5560 |
Description
The ADK gene encodes adenosine kinase, a key enzyme in the purine salvage pathway that catalyzes the phosphorylation of adenosine to adenosine monophosphate (AMP). This reaction regulates intracellular and extracellular adenosine concentrations, influencing cellular energy metabolism, neurotransmission, and inflammation. ADK is expressed in multiple tissues and is implicated in various disorders including epilepsy, intellectual disability, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypermethioninemia due to adenosine kinase deficiency | Loss-of-function mutations in ADK impair adenosine phosphorylation, leading to accumulation of methionine and S-adenosylmethionine, causing neurological symptoms. | OMIM #614300 |
| Epilepsy, early-onset, with or without developmental delay | ADK deficiency disrupts adenosine homeostasis, reducing inhibitory neuromodulation and increasing seizure susceptibility. | ClinVar, PMID: 26917587 |
| Hepatocellular carcinoma | ADK overexpression promotes tumor growth by supporting nucleotide synthesis and reducing extracellular adenosine-mediated immune suppression. | COSMIC, PMID: 25636800 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 18.5 | High |
| Brain | 12.3 | Medium |
| Kidney | 10.1 | Medium |
| Heart | 8.7 | Medium |
| Lung | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| SH-SY5Y | 11.8 | Neuroblastoma cell line |
| HEK293 | 9.5 | Embryonic kidney cell line |
| A549 | 7.3 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.592C>T (p.Arg198Trp) | Missense | Rare | Loss of enzyme activity; associated with hypermethioninemia |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein; severe neurological phenotype |
| c.1030G>A (p.Gly344Ser) | Missense | Rare | Reduced catalytic activity; epilepsy |
Mutation functional classification
Loss of Function (LOF)
Most ADK mutations are loss-of-function, reducing or abolishing adenosine kinase activity, leading to adenosine accumulation and metabolic disturbances.
Gain of Function (GOF)
Not reported in germline; somatic gain-of-function may occur in cancers via overexpression or amplification.
Dominant Negative (DN)
Not described for ADK; recessive inheritance pattern predominates.
View complete mutation data：
Gene Ontology (GO)
| • adenosine kinase activity (GO:0004001) | • ATP binding (GO:0005524) |
| • AMP biosynthetic process (GO:0006167) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) |
Pathways
• Purine metabolism (KEGG: hsa00230)
• Adenosine and adenine nucleotide metabolism (Reactome: R-HSA-74217)
Protein Summary
Adenosine kinase is a 345-amino acid cytosolic enzyme that catalyzes the transfer of the gamma-phosphate from ATP to adenosine, forming AMP. It exists as a monomer and is highly conserved across species. The protein contains an ATP-binding domain and a catalytic core. Its activity is critical for maintaining low intracellular adenosine levels and for recycling purines. Structural studies reveal a two-domain architecture with a deep active-site cleft.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADK Knockout HEK293 Cell Line | EDJ-KQ3783 | Human | 132 | Details Get a Quote |
| NADK2 Knockout HEK293 Cell Line | EDJ-KQ9321 | Human | 133686 | Details Get a Quote |
| NADK Knockout HEK293 Cell Line | EDJ-KQ14363 | Human | 65220 | Details Get a Quote |
| NADK2 Knockout A-549 Cell Line | EDJ-KQ35946 | Human | 133686 | Details Get a Quote |
| NADK2 Knockout HeLa Cell Line | EDJ-KQ35948 | Human | 133686 | Details Get a Quote |
| NADK Knockout A-549 Cell Line | EDJ-KQ44494 | Human | 65220 | Details Get a Quote |
| NADK Knockout HCT 116 Cell Line | EDJ-KQ44495 | Human | 65220 | Details Get a Quote |
| NADK Knockout HeLa Cell Line | EDJ-KQ44496 | Human | 65220 | Details Get a Quote |
| ADK Knockout A-549 Cell Line | EDJ-KQ25879 | Human | 132 | Details Get a Quote |
| ADK Knockout HCT 116 Cell Line | EDJ-KQ25880 | Human | 132 | Details Get a Quote |
| ADK Knockout HeLa Cell Line | EDJ-KQ25881 | Human | 132 | Details Get a Quote |
| NADK2 Knockout HCT 116 Cell Line | EDJ-KQ34703 | Human | 133686 | Details Get a Quote |
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