ID:KAD2_HUMAN DESCRIPTION: RecName: Full=Adenylate kinase 2, mitochondrial; Short=AK 2; EC=2.7.4.3; AltName: Full=ATP-AMP transphosphorylase 2; FUNCTION: 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. CATALYTIC ACTIVITY: ATP + AMP = 2 ADP. SUBUNIT: Monomer (By similarity). SUBCELLULAR LOCATION: Mitochondrion intermembrane space. 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). DISEASE: Defects in AK2 are the cause of reticular dysgenesis (RDYS) [MIM:267500]; 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. SIMILARITY: Belongs to the adenylate kinase family. AK2 subfamily.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P54819
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AK023758 - Homo sapiens cDNA FLJ13696 fis, clone PLACE2000140. U54645 - Human adenylate kinase 2B (adk2b) gene, complete cds. JD255085 - Sequence 236109 from Patent EP1572962. JD093537 - Sequence 74561 from Patent EP1572962. JD347965 - Sequence 328989 from Patent EP1572962. JD259899 - Sequence 240923 from Patent EP1572962. JD082752 - Sequence 63776 from Patent EP1572962. JD181811 - Sequence 162835 from Patent EP1572962. JD088136 - Sequence 69160 from Patent EP1572962. JD466019 - Sequence 447043 from Patent EP1572962. BC026705 - Homo sapiens adenylate kinase 2, mRNA (cDNA clone IMAGE:5140193). BC090040 - Homo sapiens adenylate kinase 2, mRNA (cDNA clone MGC:111025 IMAGE:6471696), complete cds. AB005622 - Homo sapiens AK2B mRNA for adenylate kinase isozyme 2, complete cds. JD308510 - Sequence 289534 from Patent EP1572962. JD088158 - Sequence 69182 from Patent EP1572962. JD368305 - Sequence 349329 from Patent EP1572962. JD402898 - Sequence 383922 from Patent EP1572962. JD382957 - Sequence 363981 from Patent EP1572962. JD322186 - Sequence 303210 from Patent EP1572962. JD345043 - Sequence 326067 from Patent EP1572962. JD101175 - Sequence 82199 from Patent EP1572962. JD342864 - Sequence 323888 from Patent EP1572962. JD060338 - Sequence 41362 from Patent EP1572962. JD047085 - Sequence 28109 from Patent EP1572962. AK296863 - Homo sapiens cDNA FLJ61131 complete cds, highly similar to Adenylate kinase isoenzyme 2, mitochondrial (EC 2.7.4.3). JD242118 - Sequence 223142 from Patent EP1572962. JD491093 - Sequence 472117 from Patent EP1572962. JD227305 - Sequence 208329 from Patent EP1572962. JD227306 - Sequence 208330 from Patent EP1572962. JD382208 - Sequence 363232 from Patent EP1572962. AK307731 - Homo sapiens cDNA, FLJ97679. AK297036 - Homo sapiens cDNA FLJ55097 complete cds, highly similar to Adenylate kinase isoenzyme 2, mitochondrial (EC 2.7.4.3). JD182837 - Sequence 163861 from Patent EP1572962. JD545732 - Sequence 526756 from Patent EP1572962. JD077061 - Sequence 58085 from Patent EP1572962. JD277790 - Sequence 258814 from Patent EP1572962. JD330210 - Sequence 311234 from Patent EP1572962. JD212811 - Sequence 193835 from Patent EP1572962. AK291676 - Homo sapiens cDNA FLJ78347 complete cds, highly similar to Homo sapiens adenylate kinase 2 (AK2), transcript variant AK2A, mRNA. U84371 - Human adenylate kinase 2A (AK2A) mRNA, complete cds. HM005633 - Homo sapiens clone HTL-S-220n testis secretory sperm-binding protein Li 220n mRNA, complete cds. AB005621 - Homo sapiens AK2A mRNA for adenylate kinase isozyme 2, complete cds. BC009405 - Homo sapiens adenylate kinase 2, mRNA (cDNA clone MGC:15301 IMAGE:4304794), complete cds. BC070127 - Homo sapiens adenylate kinase 2, mRNA (cDNA clone MGC:88106 IMAGE:6663039), complete cds. AY080899 - Homo sapiens adenylate kinase 2 variant AK2C (AK2) mRNA, complete cds, alternatively spliced. U39945 - Human adenylate kinase 2 (adk2) mRNA, complete cds. AK295105 - Homo sapiens cDNA FLJ59886 complete cds, highly similar to Adenylate kinase isoenzyme 2, mitochondrial (EC 2.7.4.3). KJ890650 - Synthetic construct Homo sapiens clone ccsbBroadEn_00044 AK2 gene, encodes complete protein. KJ905139 - Synthetic construct Homo sapiens clone ccsbBroadEn_14536 AK2 gene, encodes complete protein. KR710389 - Synthetic construct Homo sapiens clone CCSBHm_00012127 AK2 (AK2) mRNA, encodes complete protein. KR710390 - Synthetic construct Homo sapiens clone CCSBHm_00012128 AK2 (AK2) mRNA, encodes complete protein. KR710391 - Synthetic construct Homo sapiens clone CCSBHm_00012129 AK2 (AK2) mRNA, encodes complete protein. AB451267 - Homo sapiens AK2 mRNA for adenylate kinase 2 isoform b, complete cds, clone: FLJ08090AAAN. AB451394 - Homo sapiens AK2 mRNA for adenylate kinase 2 isoform b, partial cds, clone: FLJ08090AAAF. AY080900 - Homo sapiens adenylate kinase 2 variant AK2D (AK2) mRNA, complete cds, alternatively spliced. JD426078 - Sequence 407102 from Patent EP1572962. JD533333 - Sequence 514357 from Patent EP1572962.
Biochemical and Signaling Pathways
BioCyc Knowledge Library PWY-7219 - adenosine ribonucleotides de novo biosynthesis PWY-841 - purine nucleotides de novo biosynthesis PWY66-409 - superpathway of purine nucleotide salvage
Reactome (by CSHL, EBI, and GO)
Protein P54819 (Reactome details) participates in the following event(s):
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
