protein
Adenylate kinase 2, mitochondrial
aka AK 2
Gene
AK2
Organism
Homo sapiens(9606)
Length
239 aa
Mass
26,478 Da
Adenylate kinase 2 (AK2) is a mitochondrial enzyme that catalyzes the reversible transfer of phosphate groups between ATP and AMP, playing a central role in cellular energy homeostasis and adenine nucleotide metabolism (UniProt: P54819). The protein is particularly important for regulating phosphate utilization and AMP biosynthesis pathways, and has been implicated in hematopoiesis. Mutations in AK2 cause reticular dysgenesis, a severe autosomal recessive immunodeficiency characterized by absent granulocytes and lymphocyte deficiency.
AK2 shows increased expression in post-mortem Alzheimer's disease brain tissue compared to age-matched controls, with a mean log2 fold-change of +0.41 detected via TMT-labeled proteomics across subcellular fractions (Chaparral AD proteomics). This upregulation suggests a potential compensatory metabolic response or altered energy metabolism in the AD brain. The functional relevance of elevated AK2 in AD pathology warrants further investigation, particularly given the protein's critical role in mitochondrial bioenergetics.
Generated from the curated entity record below. May contain errors — verify against source links.
Proteomics Evidence · AD
↑ Up in ADP3
not detected
P2
not detected
S2
not detected
S3
+0.409
Mean log₂FC across detected fractions: +0.4093 (1 of 4 fractions detected)
Human post-mortem AD brain vs age-matched controls, TMT-labeled, 4 subcellular fractions (P2, P3, S2, S3), DDA proteomics.
Related Publications
Browse all →Tau molecular diversity contributes to clinical heterogeneity in Alzheimer's disease.
Dujardin Simon et al.Nature medicine2020PMID 32572268Deep Multilayer Brain Proteomics Identifies Molecular Networks in Alzheimer's Disease Progression.
Bai Bing et al.Neuron2020PMID 31926610A Multi-network Approach Identifies Protein-Specific Co-expression in Asymptomatic and Symptomatic Alzheimer's Disease.
Seyfried Nicholas T et al.Cell systems2017PMID 27989508Large-scale deep multi-layer analysis of Alzheimer's disease brain reveals strong proteomic disease-related changes not observed at the RNA level.
Johnson Erik C B et al.Nature neuroscience2022PMID 35115731Organization and regulation of gene transcription.
Cramer PatrickNature2019PMID 31462772
Function
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
Disease associations
Reticular dysgenesisRDYS
A fatal form of severe combined immunodeficiency, characterized by absence of granulocytes, almost complete deficiency of lymphocytes in peripheral blood, hypoplasia of the thymus and secondary lymphoid organs, and lack of innate and adaptive humoral and cellular immunity, leading to fatal septicemia within days after birth. In bone marrow of individuals with reticular dysgenesis, myeloid differentiation is blocked at the promyelocytic stage, whereas erythro- and megakaryocytic maturation is generally normal. Inheritance is autosomal recessive.
Sources
Last updated 5/8/2026, 6:35:25 AM
