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MT000019

UniProt Annotations

Entry Information

Gene Name	adenylate kinase 2
Protein Entry	KAD2_HUMAN
UniProt ID	P54819
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=6; Name=1; Synonyms=AK2A, AK2isoA; IsoId=P54819-1; Sequence=Displayed; Name=2; Synonyms=AK2B, AK2isoB; IsoId=P54819-2; Sequence=VSP_002790; Name=3; Synonyms=AK2C; IsoId=P54819-3; Sequence=VSP_002791; Name=4; Synonyms=AK2D; IsoId=P54819-4; Sequence=VSP_002792, VSP_002793, VSP_002794; Name=5; IsoId=P54819-5; Sequence=VSP_036503, VSP_002790; Note=No experimental confirmation available.; Name=6; IsoId=P54819-6; Sequence=VSP_002792; Note=No experimental confirmation available.;
Catalytic Activity	ATP + AMP = 2 ADP. {ECO:0000255\|HAMAP- Rule:MF_03168}.
Disease	Reticular dysgenesis (RDYS) [MIM:267500]: 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. {ECO:0000269\|PubMed:19043416, ECO:0000269\|PubMed:19043417}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Domain	Consists of three domains, a large central CORE domain and two small peripheral domains, NMPbind and LID, which undergo movements during catalysis. The LID domain closes over the site of phosphoryl transfer upon ATP binding. Assembling and dissambling the active center during each catalytic cycle provides an effective means to prevent ATP hydrolysis.
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. {ECO:0000255\|HAMAP- Rule:MF_03168, ECO:0000269\|PubMed:19043416}.
Similarity	Belongs to the adenylate kinase family. AK2 subfamily. {ECO:0000255\|HAMAP-Rule:MF_03168}.
Subcellular Location	Mitochondrion intermembrane space.
Subunit	Monomer. {ECO:0000255\|HAMAP-Rule:MF_03168}.
Tissue Specificity	Present in most tissues. Present at high level in heart, liver and kidney, and at low level in brain, skeletal muscle and skin. Present in thrombocytes but not in erythrocytes, which lack mitochondria. Present in all nucleated cell populations from blood, while AK1 is mostly absent. In spleen and lymph nodes, mononuclear cells lack AK1, whereas AK2 is readily detectable. These results indicate that leukocytes may be susceptible to defects caused by the lack of AK2, as they do not express AK1 in sufficient amounts to compensate for the AK2 functional deficits (at protein level). {ECO:0000269\|PubMed:19043417}.