AK2

AK2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2C9Y
Identifiers
Aliases	AK2 , ADK2, AK 2, adenylate kinase 2
External IDs	OMIM: 103020; MGI: 87978; HomoloGene: 1227; GeneCards: AK2; OMA:AK2 - orthologs
EC number	2.7.4.3
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1p35.1 Start 33,007,986 bp [1] End 33,080,996 bp [1]
Gene location (Mouse) Chr. Chromosome 4 (mouse) [2] Band 4 D2.2|4 62.62 cM Start 128,885,751 bp [2] End 128,905,322 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in rectum mucosa of transverse colon epithelium of colon gastrocnemius muscle right auricle of heart left lobe of thyroid gland right lobe of thyroid gland right lobe of liver apex of heart left adrenal cortex Top expressed in right kidney jejunum brown adipose tissue duodenum crypt of lieberkuhn of small intestine proximal tubule left lobe of liver granulocyte primary oocyte white adipose tissue More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity nucleotide binding phosphotransferase activity, phosphate group as acceptor kinase activity nucleobase-containing compound kinase activity ATP binding adenylate kinase activity Cellular component sperm mitochondrial sheath mitochondrial intermembrane space sperm flagellum mitochondrion mitochondrial inner membrane extracellular exosome Biological process nucleobase-containing small molecule interconversion phosphorylation nucleobase-containing compound metabolic process ADP biosynthetic process nucleotide phosphorylation AMP metabolic process ATP metabolic process nucleoside monophosphate phosphorylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 204 11637 Ensembl ENSG00000004455 ENSMUSG00000028792 UniProt P54819 Q9WTP6 RefSeq (mRNA) NM_001199199 NM_001625 NM_013411 NM_001319139 NM_001319140 NM_001319141 NM_001319142 NM_001319143 NM_172199 NM_001033966 NM_016895 RefSeq (protein) NP_001186128 NP_001306068 NP_001306069 NP_001306070 NP_001306071 NP_001306072 NP_001616 NP_037543 NP_001029138 NP_058591 Location (UCSC) Chr 1: 33.01 – 33.08 Mb Chr 4: 128.89 – 128.91 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Adenylate kinase 2 is an enzyme that is encoded in humans by the AK2 gene. ^{[5] [6] [7]} The AK2 protein is found in the intermembrane space of the mitochondrion. ^{[8] [9]}

Function

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. Two transcript variants encoding distinct isoforms have been identified for this gene. ^[7]

AK2 deficiency

Adenylate Kinase 2 (AK2) deficiency in humans causes hematopoietic defects associated with sensorineural deafness. ^{[10] [11]} Reticular dysgenesis is an autosomal recessive form of human combined immunodeficiency. It is also characterized by an impaired lymphoid maturation and early differentiation arrest in the myeloid lineage. AK2 deficiency results in absent or a large decrease in the expression of proteins. AK2 is specifically expressed in the stria vascularis of the inner ear which indicates why individuals with an AK2 deficiency will have sensorineural deafness. ^[11]

References

1. GRCh38: Ensembl release 89: ENSG00000004455 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000028792 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Lee Y, Kim JW, Lee IA, Kang HB, Choe YK, Lee HG, Lim JS, Kim HJ, Park C, Choe IS (Feb 1997). "Cloning and characterization of cDNA for human adenylate kinase 2A". Biochem Mol Biol Int. 39 (4): 833–42. doi: 10.1080/15216549600201931 . PMID   8843353. S2CID   20344485.
6. Carritt B, King J, Welch HM (Mar 1983). "Gene order and localization of enzyme loci on the short arm of chromosome 1". Ann Hum Genet. 46 (Pt 4): 329–35. doi:10.1111/j.1469-1809.1982.tb01583.x. PMID   6961883. S2CID   30856048.
7. "Entrez Gene: AK2 adenylate kinase 2".
8. Bruns GA, Regina VM (1977). "Adenylate kinase 2, a mitochondrial enzyme". Biochem. Genet. 15 (5–6): 477–86. doi:10.1007/BF00520192. PMID   195572. S2CID   21214450.
9. Köhler C, Gahm A, Noma T, et al. (1999). "Release of adenylate kinase 2 from the mitochondrial intermembrane space during apoptosis". FEBS Lett. 447 (1): 10–2. doi: 10.1016/S0014-5793(99)00251-3 . PMID   10218571. S2CID   21280401.
10. Pannicke U, Hönig M, Hess I, et al. (January 2009). "Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2". Nat. Genet. 41 (1): 101–105. doi:10.1038/ng.265. PMID   19043417. S2CID   205347130.
11. Lagresle-Peyrou C, Six EM, Picard C, et al. (January 2009). "Human adenylate kinase 2 deficiency causes a profound haematopoietic defect associated with sensorineural deafness". Nat. Genet. 41 (1): 106–11. doi:10.1038/ng.278. PMC   2612090 . PMID   19043416.

External links

• Human AK2 genome location and AK2 gene details page in the UCSC Genome Browser .

Further reading

• Lee Y, Kim JW, Lee SM, et al. (1998). "Cloning and expression of human adenylate kinase 2 isozymes: differential expression of adenylate kinase 1 and 2 in human muscle tissues". J. Biochem. 123 (1): 47–54. doi:10.1093/oxfordjournals.jbchem.a021915. PMID   9504408.
• Noma T, Song S, Yoon YS, et al. (1998). "cDNA cloning and tissue-specific expression of the gene encoding human adenylate kinase isozyme 2". Biochim. Biophys. Acta. 1395 (1): 34–9. doi:10.1016/s0167-4781(97)00193-0. PMID   9434148.
• Hamada M, Sumida M, Okuda H, et al. (1982). "Adenosine triphosphate-adenosine-5'-monophosphate phosphotransferase from normal human liver mitochondria. Isolation, chemical properties, and immunochemical comparison with Duchenne dystrophic serum aberrant adenylate kinase". J. Biol. Chem. 257 (21): 13120–8. doi: 10.1016/S0021-9258(18)33631-7 . PMID   6182143.