ADK

Chr 10q22.2

adenosine kinase

Aliases:: AK
MANE:: ENST00000539909.6

OMIM: 102750 ↗NCBI: 132 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

ADK · P55263

v62025-08-01

Predicted Aligned Error matrix for ADK — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.3/ 100

Very high

362 residues

Confidence breakdown

Very high(≥ 90)87%
Confident(70–90)8%
Low(50–70)1%
Very low(< 50)5%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Cholestasis
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Neonatal cholestasis
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

adenosine kinase deficiency
0.78
autosomal recessive non-syndromic intellectual disability
0.37
neurodegenerative disease
0.32
arthropathy
0.30
Alzheimer disease
0.28
ovarian dysfunction
0.27
diabetic retinopathy
0.26
essential hypertension
0.26
adolescent idiopathic scoliosis
0.26
liver disorder
0.26

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Adenosine kinase

Adenosine kinase that mediates the phosphorylation of the purine nucleoside adenosine at the 5' position in an ATP-dependent manner: catalyzes phosphorylation of both unmodified and modified adenosines (PubMed:21963049, PubMed:40840445, PubMed:6246102, PubMed:8577746, PubMed:9070863). Plays a key role in the detoxification of modified adenosines containing N(6)-methylated adenine (m6A) post-transcriptional modification (PubMed:40840445). Modified nucleosides are derived from the degradation of RNAs (mRNAs, rRNAs and tRNAs) and possess intrinsic cytotoxicity and must be cleared to prevent metabolic dysfunction (PubMed:40840445). Catalyzes the phosphorylation of the free cytosolic methylated adenosine nucleotides N(6)-methyladenosine (m6A), N(6),N(6)-dimethyladenosine (m6,6A) and N(6)-isopentenyladenosine (i6A) into adenosine monophosphate (AMP) intermediates that are further detoxified by MAPDA/ADAL (PubMed:40840445)