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protein

Adenylate kinase 2, mitochondrial

aka AK 2

AK2
protein:P54819disease:adad:direction:up

Gene

AK2

Organism

Homo sapiens(9606)

Length

239 aa

Mass

26,478 Da

AI summarysource-grounded · cited inline
claude-haiku-4-5-20251001

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 AD

P3

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.

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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