AK2

Chr 1p35.1

adenylate kinase 2

MANE:: ENST00000672715.1

OMIM: 103020 ↗NCBI: 204 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

AK2 · P54819

v62025-08-01

Predicted Aligned Error matrix for AK2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.3/ 100

Very high

239 residues

Confidence breakdown

Very high(≥ 90)83%
Confident(70–90)9%
Low(50–70)3%
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)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders

Disease associations (Open Targets)

reticular dysgenesis
0.80
neurodegenerative disease
0.51
severe combined immunodeficiency
0.51
hereditary disease
0.19
neoplasm
0.10
glioma
0.08
central nervous system cancer
0.08
hepatocellular carcinoma
0.08
lung carcinoma
0.08
lung cancer
0.08

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

Protein function (UniProt)

Adenylate kinase 2, mitochondrial

Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism. Adenylate kinase activity is critical for regulation of the phosphate utilization and the AMP de novo biosynthesis pathways. Plays a key role in hematopoiesis