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{{Infobox_gene}}
{{PBB_Controls
'''Adenylate kinase 2''' is an [[enzyme]] that is encoded in humans by the ''AK2'' [[gene]].<ref name="pmid8843353">{{cite journal | vauthors = Lee Y, Kim JW, Lee IA, Kang HB, Choe YK, Lee HG, Lim JS, Kim HJ, Park C, Choe IS | title = Cloning and characterization of cDNA for human adenylate kinase 2A | journal = Biochem Mol Biol Int | volume = 39 | issue = 4 | pages = 833–42 |date=Feb 1997 | pmid = 8843353 | pmc =  | doi =  }}</ref><ref name="pmid6961883">{{cite journal | vauthors = Carritt B, King J, Welch HM | title = Gene order and localization of enzyme loci on the short arm of chromosome 1 | journal = Ann Hum Genet | volume = 46 | issue = Pt 4 | pages = 329–35 |date=Mar 1983 | pmid = 6961883 | pmc =  | doi =10.1111/j.1469-1809.1982.tb01583.x  }}</ref><ref name="entrez"/> The AK2 protein is found in the intermembrane space of the [[mitochondrion]].<ref>{{cite journal  | vauthors=Bruns GA, Regina VM |title=Adenylate kinase 2, a mitochondrial enzyme |journal=Biochem. Genet. |volume=15 |issue= 5–6 |pages= 477–86 |year= 1977 |pmid= 195572 |doi=10.1007/BF00520192  }}</ref><ref>{{cite journal  | vauthors=Köhler C, Gahm A, Noma T |title=Release of adenylate kinase 2 from the mitochondrial intermembrane space during apoptosis |journal=FEBS Lett. |volume=447 |issue= 1 |pages= 10–2 |year= 1999 |pmid= 10218571 |doi=10.1016/S0014-5793(99)00251-3|display-authors=etal}}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image = PBB_Protein_AK2_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1ak2.
| PDB = {{PDB2|1ak2}}, {{PDB2|2ak2}}, {{PDB2|2c9y}}
| Name = Adenylate kinase 2
| HGNCid = 362
| Symbol = AK2
| AltSymbols =; ADK2
| OMIM = 103020
| ECnumber = 
| Homologene = 1227
| MGIid = 87978
| GeneAtlas_image1 = PBB_GE_AK2_208967_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_AK2_205996_s_at_tn.png
| GeneAtlas_image3 = PBB_GE_AK2_212172_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0004017 |text = adenylate kinase activity}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0016301 |text = kinase activity}} {{GNF_GO|id=GO:0016740 |text = transferase activity}} {{GNF_GO|id=GO:0019206 |text = nucleoside kinase activity}}
| Component = {{GNF_GO|id=GO:0005739 |text = mitochondrion}} {{GNF_GO|id=GO:0005743 |text = mitochondrial inner membrane}}
| Process = {{GNF_GO|id=GO:0006139 |text = nucleobase, nucleoside, nucleotide and nucleic acid metabolic process}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 204
    | Hs_Ensembl = ENSG00000004455
    | Hs_RefseqProtein = NP_001616
    | Hs_RefseqmRNA = NM_001625
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 1
    | Hs_GenLoc_start = 33246173
    | Hs_GenLoc_end = 33275180
    | Hs_Uniprot = P54819
    | Mm_EntrezGene = 11637
    | Mm_Ensembl = ENSMUSG00000028792
    | Mm_RefseqmRNA = XM_988432
    | Mm_RefseqProtein = XP_993526
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 4
    | Mm_GenLoc_start = 128495528
    | Mm_GenLoc_end = 128513833
    | Mm_Uniprot = Q3THT3
  }}
}}
'''Adenylate kinase 2''', also known as '''AK2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: AK2 adenylate kinase 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=204| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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.<ref name="entrez">{{cite web | title = Entrez Gene: AK2 adenylate kinase 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=204| accessdate = }}</ref>
{{PBB_Summary
 
| section_title =
=== AK2 deficiency ===
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: AK2 adenylate kinase 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=204| accessdate = }}</ref>
Adenylate Kinase 2 (AK2) deficiency in humans causes [[hematopoietic]] defects associated with [[sensorineural deafness]].<ref name="Pannicke-2009">{{cite journal |vauthors =Pannicke U, Hönig M, Hess I |title=Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2 |journal=Nat. Genet.|volume=41 |issue=1 |pages=101–105 |date=January 2009 |pmid=19043417 |doi=10.1038/ng.265 |url=|display-authors=etal}}</ref><ref name="Peyrou-2009">{{cite journal |vauthors =Lagresle-Peyrou C, Six EM, Picard C |title=Human adenylate kinase 2 deficiency causes a profound haematopoietic defect associated with sensorineural deafness |journal=Nat. Genet. |volume=41 |issue=1 |pages=106–11 |date=January 2009 |pmid=19043416 |pmc=2612090 |doi=10.1038/ng.278 |url=|display-authors=etal}}</ref>  Recticular 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.<ref name="Peyrou-2009" />
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==External links==
* {{UCSC gene info|AK2}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{cite journal  | vauthors=Lee Y, Kim JW, Lee SM |title=Cloning and expression of human adenylate kinase 2 isozymes: differential expression of adenylate kinase 1 and 2 in human muscle tissues |journal=J. Biochem. |volume=123 |issue= 1 |pages= 47–54 |year= 1998 |pmid= 9504408 |doi=  10.1093/oxfordjournals.jbchem.a021915|display-authors=etal}}
| citations =
*{{cite journal  | vauthors=Noma T, Song S, Yoon YS |title=cDNA cloning and tissue-specific expression of the gene encoding human adenylate kinase isozyme 2 |journal=Biochim. Biophys. Acta |volume=1395 |issue= 1 |pages= 34–9 |year= 1998 |pmid= 9434148 |doi=  10.1016/s0167-4781(97)00193-0|display-authors=etal}}
*{{cite journal  | author=Gregory SG, Barlow KF, McLay KE, ''et al.'' |title=The DNA sequence and biological annotation of human chromosome 1. |journal=Nature |volume=441 |issue= 7091 |pages= 315-21 |year= 2006 |pmid= 16710414 |doi= 10.1038/nature04727 }}
*{{cite journal  | vauthors=Hamada M, Sumida M, Okuda H |title=Adenosine triphosphate-adenosine-5'-monophosphate phosphotransferase from normal human liver mitochondria. Isolation, chemical properties, and immunochemical comparison with Duchenne dystrophic serum aberrant adenylate kinase |journal=J. Biol. Chem. |volume=257 |issue= 21 |pages= 13120–8 |year= 1982 |pmid= 6182143 |doi=  |display-authors=etal}}
*{{cite journal  | author=Pope SN, Lee IR |title=Yeast two-hybrid identification of prostatic proteins interacting with human sex hormone-binding globulin. |journal=J. Steroid Biochem. Mol. Biol. |volume=94 |issue= 1-3 |pages= 203-8 |year= 2005 |pmid= 15862967 |doi= 10.1016/j.jsbmb.2005.01.007 }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Köhler C, Gahm A, Noma T, ''et al.'' |title=Release of adenylate kinase 2 from the mitochondrial intermembrane space during apoptosis. |journal=FEBS Lett. |volume=447 |issue= 1 |pages= 10-2 |year= 1999 |pmid= 10218571 |doi=  }}
*{{cite journal  | author=Lee Y, Kim JW, Lee SM, ''et al.'' |title=Cloning and expression of human adenylate kinase 2 isozymes: differential expression of adenylate kinase 1 and 2 in human muscle tissues. |journal=J. Biochem. |volume=123 |issue= 1 |pages= 47-54 |year= 1998 |pmid= 9504408 |doi=  }}
*{{cite journal  | author=Noma T, Song S, Yoon YS, ''et al.'' |title=cDNA cloning and tissue-specific expression of the gene encoding human adenylate kinase isozyme 2. |journal=Biochim. Biophys. Acta |volume=1395 |issue= 1 |pages= 34-9 |year= 1998 |pmid= 9434148 |doi=  }}
*{{cite journal  | author=Lee Y, Kim JW, Lee IA, ''et al.'' |title=Cloning and characterization of cDNA for human adenylate kinase 2A. |journal=Biochem. Mol. Biol. Int. |volume=39 |issue= 4 |pages= 833-42 |year= 1997 |pmid= 8843353 |doi=  }}
*{{cite journal  | author=Carritt B, King J, Welch HM |title=Gene order and localization of enzyme loci on the short arm of chromosome 1. |journal=Ann. Hum. Genet. |volume=46 |issue= Pt 4 |pages= 329-35 |year= 1983 |pmid= 6961883 |doi=  }}
*{{cite journal  | author=Hamada M, Sumida M, Okuda H, ''et al.'' |title=Adenosine triphosphate-adenosine-5'-monophosphate phosphotransferase from normal human liver mitochondria. Isolation, chemical properties, and immunochemical comparison with Duchenne dystrophic serum aberrant adenylate kinase. |journal=J. Biol. Chem. |volume=257 |issue= 21 |pages= 13120-8 |year= 1982 |pmid= 6182143 |doi=  }}
*{{cite journal  | author=Bruns GA, Regina VM |title=Adenylate kinase 2, a mitochondrial enzyme. |journal=Biochem. Genet. |volume=15 |issue= 5-6 |pages= 477-86 |year= 1977 |pmid= 195572 |doi=  }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
{{PDB Gallery|geneid=204}}
{{WikiDoc Sources}}
{{Kinases}}
{{Enzymes}}
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[[Category:EC 2.7.4]]
 
 
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{{gene-1-stub}}

Latest revision as of 17:52, 5 November 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Adenylate kinase 2 is an enzyme that is encoded in humans by the AK2 gene.[1][2][3] The AK2 protein is found in the intermembrane space of the mitochondrion.[4][5]

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.[3]

AK2 deficiency

Adenylate Kinase 2 (AK2) deficiency in humans causes hematopoietic defects associated with sensorineural deafness.[6][7] Recticular 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.[7]

References

  1. ↑ 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. PMID 8843353.
  2. ↑ 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.
  3. ↑ 3.0 3.1 "Entrez Gene: AK2 adenylate kinase 2".
  4. ↑ Bruns GA, Regina VM (1977). "Adenylate kinase 2, a mitochondrial enzyme". Biochem. Genet. 15 (5–6): 477–86. doi:10.1007/BF00520192. PMID 195572.
  5. ↑ 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.
  6. ↑ 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.
  7. ↑ 7.0 7.1 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

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. PMID 6182143.


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