AAC52061.1
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
21,636 Da
NCBI Official Full Name
adenylate kinase 2
NCBI Official Synonym Full Names
adenylate kinase 2
NCBI Official Synonym Symbols
NCBI Protein Information
adenylate kinase 2, mitochondrial
UniProt Protein Name
Adenylate kinase 2, mitochondrial
UniProt Synonym Protein Names
ATP-AMP transphosphorylase 2
UniProt Synonym Gene Names
NCBI Summary for AK2
Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010]
UniProt Comments for AK2
AK2: Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. This small ubiquitous enzyme involved in energy metabolism and nucleotide synthesis that is essential for maintenance and cell growth. Plays a key role in hematopoiesis. Defects in AK2 are the cause of reticular dysgenesis (RDYS); also known as aleukocytosis. RDYS is the most severe form of inborn severe combined immunodeficiencies (SCID) and is characterized by absence of granulocytes and 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 immune functions, 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.In addition, affected newborns have bilateral sensorineural deafness. Defects may be due to its absence in leukocytes and inner ear, in which its absence can not be compensated by AK1. Belongs to the adenylate kinase family. AK2 subfamily. 6 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 2.7.4.3; Kinase, other; Mitochondrial; Nucleotide Metabolism - purine
Chromosomal Location of Human Ortholog: 1p35.1
Cellular Component: mitochondrial intermembrane space
Molecular Function: adenylate kinase activity
Biological Process: nucleobase, nucleoside and nucleotide interconversion
Disease: Reticular Dysgenesis
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Products associated with anti-AK2 antibody
Pathways associated with anti-AK2 antibody
Diseases associated with anti-AK2 antibody
Organs/Tissues associated with anti-AK2 antibody
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