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PRKAB2
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<h2 id="related-gene-problems">Related gene problems</h2> <ul><li><a href="/facts/1q21.1_deletion_syndrome/enkeMwhh">1q21.1 deletion syndrome</a></li> <li><a href="/facts/1q21.1_duplication_syndrome/CfgmacBa">1q21.1 duplication syndrome</a></li></ul> <h2 id="interactions">Interactions</h2> <p>PRKAB2 has been shown to <a href="/facts/Protein-protein_interaction/etvm9Wmg">interact</a> with <a href="/facts/PRKAG2/YwbRmWFq">PRKAG2</a><a class="footnote-ref" id="fnref:4" href="#fn:4"><sup>4</sup></a> and <a href="/facts/PRKAG1/3u7XHcyV">PRKAG1</a>.<a class="footnote-ref" id="fnref:5" href="#fn:5"><sup>5</sup></a> </p><p>Research on the genes <a href="/facts/CHD1L/XbP6rUBe">CHD1L</a> and PRKAB2 within <a href="/facts/Lymphoblast/vvsHz4ID">lymphoblast</a> cells<a class="footnote-ref" id="fnref:6" href="#fn:6"><sup>6</sup></a> lead to the conclusion that anomalies appear with the <a href="/facts/1q21.1_deletion_syndrome/enkeMwhh">1q21.1 deletion syndrome</a>: </p> <ul><li><a href="/facts/CHD1L/XbP6rUBe">CHD1L</a> is an enzyme which is involved in untangling the <a href="/facts/Chromatid/fQ68yxMn">chromatids</a> and the DNA repair system. With 1q21.1 deletion syndrome a disturbance occurs, which leads to increased DNA breaks. The role of CHD1L is similar to that of <a href="/facts/Helicase/IemubWzR">helicase</a> with the <a href="/facts/Werner_syndrome/3dvPVJYw">Werner syndrome</a></li> <li>PRKAB2 is involved in maintaining the energy level of cells. With 1q21.1-deletion syndrome this function was attenuated.</li></ul> <h2 id="further-reading">Further reading</h2> <ul><li>Gao G, Fernandez CS, Stapleton D, et al. (1996). <a href="https://doi.org/10.1074%2Fjbc.271.15.8675">"Non-catalytic beta- and gamma-subunit isoforms of the 5'-AMP-activated protein kinase"</a>. <i>J. Biol. Chem</i>. 271 (15): 8675–81. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1074%2Fjbc.271.15.8675">10.1074/jbc.271.15.8675</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/8621499">8621499</a>.</li> <li>Woods A, Cheung PC, Smith FC, et al. (1996). <a href="https://doi.org/10.1074%2Fjbc.271.48.30517">"Characterization of AMP-activated protein kinase beta and gamma subunits. Assembly of the heterotrimeric complex in vitro"</a>. <i>J. Biol. Chem</i>. 271 (17): 10282–90. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1074%2Fjbc.271.48.30517">10.1074/jbc.271.48.30517</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/8626596">8626596</a>.</li> <li>Bonaldo MF, Lennon G, Soares MB (1997). <a href="https://doi.org/10.1101%2Fgr.6.9.791">"Normalization and subtraction: two approaches to facilitate gene discovery"</a>. <i>Genome Res</i>. 6 (9): 791–806. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1101%2Fgr.6.9.791">10.1101/gr.6.9.791</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/8889548">8889548</a>.</li> <li>Stapleton D, Woollatt E, Mitchelhill KI, et al. (1997). "AMP-activated protein kinase isoenzyme family: subunit structure and chromosomal location". <i>FEBS Lett</i>. 409 (3): 452–6. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2FS0014-5793%2897%2900569-3">10.1016/S0014-5793(97)00569-3</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/9224708">9224708</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:39329574">39329574</a>.</li> <li>Thornton C, Snowden MA, Carling D (1998). <a href="https://doi.org/10.1074%2Fjbc.273.20.12443">"Identification of a novel AMP-activated protein kinase beta subunit isoform that is highly expressed in skeletal muscle"</a>. <i>J. Biol. Chem</i>. 273 (20): 12443–50. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1074%2Fjbc.273.20.12443">10.1074/jbc.273.20.12443</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/9575201">9575201</a>.</li> <li>Cheung PC, Salt IP, Davies SP, et al. (2000). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1220898">"Characterization of AMP-activated protein kinase gamma-subunit isoforms and their role in AMP binding"</a>. <i>Biochem. J</i>. 346 (3): 659–69. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1042%2F0264-6021%3A3460659">10.1042/0264-6021:3460659</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1220898">1220898</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/10698692">10698692</a>.</li> <li>Xu XR, Huang J, Xu ZG, et al. (2002). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC64988">"Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver"</a>. <i>Proc. Natl. Acad. Sci. U.S.A</i>. 98 (26): 15089–94. <a href="/facts/Bibcode_(identifier)/9HtdQSGB">Bibcode</a>:<a href="https://ui.adsabs.harvard.edu/abs/2001PNAS...9815089X">2001PNAS...9815089X</a>. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1073%2Fpnas.241522398">10.1073/pnas.241522398</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC64988">64988</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11752456">11752456</a>.</li> <li>Park SH, Paulsen SR, Gammon SR, et al. (2003). "Effects of thyroid state on AMP-activated protein kinase and acetyl-CoA carboxylase expression in muscle". <i>J. Appl. Physiol</i>. 93 (6): 2081–8. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1152%2Fjapplphysiol.00504.2002">10.1152/japplphysiol.00504.2002</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12433937">12433937</a>.</li> <li>Strausberg RL, Feingold EA, Grouse LH, et al. (2003). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC139241">"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences"</a>. <i>Proc. Natl. Acad. Sci. U.S.A</i>. 99 (26): 16899–903. <a href="/facts/Bibcode_(identifier)/9HtdQSGB">Bibcode</a>:<a href="https://ui.adsabs.harvard.edu/abs/2002PNAS...9916899M">2002PNAS...9916899M</a>. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1073%2Fpnas.242603899">10.1073/pnas.242603899</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC139241">139241</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12477932">12477932</a>.</li> <li>Prochazka M, Farook VS, Ossowski V, et al. (2003). <a href="https://zenodo.org/record/1229938">"Variant screening of PRKAB2, a type 2 diabetes mellitus susceptibility candidate gene on 1q in Pima Indians"</a>. <i>Mol. Cell. Probes</i>. 16 (6): 421–7. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1006%2Fmcpr.2002.0439">10.1006/mcpr.2002.0439</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12490143">12490143</a>.</li> <li>Ota T, Suzuki Y, Nishikawa T, et al. (2004). <a href="https://doi.org/10.1038%2Fng1285">"Complete sequencing and characterization of 21,243 full-length human cDNAs"</a>. <i>Nat. Genet</i>. 36 (1): 40–5. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2Fng1285">10.1038/ng1285</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/14702039">14702039</a>.</li> <li>Minokoshi Y, Alquier T, Furukawa N, et al. (2004). "AMP-kinase regulates food intake by responding to hormonal and nutrient signals in the hypothalamus". <i>Nature</i>. 428 (6982): 569–74. <a href="/facts/Bibcode_(identifier)/9HtdQSGB">Bibcode</a>:<a href="https://ui.adsabs.harvard.edu/abs/2004Natur.428..569M">2004Natur.428..569M</a>. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2Fnature02440">10.1038/nature02440</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/15058305">15058305</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:4302317">4302317</a>.</li> <li>Gerhard DS, Wagner L, Feingold EA, et al. (2004). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC528928">"The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)"</a>. <i>Genome Res</i>. 14 (10B): 2121–7. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1101%2Fgr.2596504">10.1101/gr.2596504</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC528928">528928</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/15489334">15489334</a>.</li> <li>Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1356129">"Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes"</a>. <i>Genome Res</i>. 16 (1): 55–65. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1101%2Fgr.4039406">10.1101/gr.4039406</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1356129">1356129</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/16344560">16344560</a>.</li> <li>Gregory SG, Barlow KF, McLay KE, et al. (2006). <a href="https://doi.org/10.1038%2Fnature04727">"The DNA sequence and biological annotation of human chromosome 1"</a>. <i>Nature</i>. 441 (7091): 315–21. <a href="/facts/Bibcode_(identifier)/9HtdQSGB">Bibcode</a>:<a href="https://ui.adsabs.harvard.edu/abs/2006Natur.441..315G">2006Natur.441..315G</a>. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2Fnature04727">10.1038/nature04727</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/16710414">16710414</a>.</li> <li>Ewing RM, Chu P, Elisma F, et al. (2007). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1847948">"Large-scale mapping of human protein–protein interactions by mass spectrometry"</a>. <i>Mol. Syst. Biol</i>. 3 (1): 89. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2Fmsb4100134">10.1038/msb4100134</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1847948">1847948</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/17353931">17353931</a>.</li></ul> <h2 id="references">References</h2> <ol> <li id="fn:1"><p>Stapleton D, Mitchelhill KI, Gao G, Widmer J, Michell BJ, Teh T, House CM, Fernandez CS, Cox T, Witters LA, Kemp BE (February 1996). "Mammalian AMP-activated protein kinase subfamily". J Biol Chem. 271 (2): 611–4. doi:10.1074/jbc.271.2.611. PMID 8557660. <a href="https://doi.org/10.1074%2Fjbc.271.2.611" target="_blank">https://doi.org/10.1074%2Fjbc.271.2.611</a> <a href="#fnref:1" class="footnote-back-ref">↩</a></p></li> <li id="fn:2"><p>"Entrez Gene: PRKAB2 protein kinase, AMP-activated, beta 2 non-catalytic subunit". <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5565" target="_blank">https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5565</a> <a href="#fnref:2" class="footnote-back-ref">↩</a></p></li> <li id="fn:3"><p>"Entrez Gene: PRKAB2 protein kinase, AMP-activated, beta 2 non-catalytic subunit". <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5565" target="_blank">https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5565</a> <a href="#fnref:3" class="footnote-back-ref">↩</a></p></li> <li id="fn:4"><p>Cheung, P C; Salt I P; Davies S P; Hardie D G; Carling D (March 2000). "Characterization of AMP-activated protein kinase gamma-subunit isoforms and their role in AMP binding". Biochem. J. 346 (3). ENGLAND: 659–69. doi:10.1042/0264-6021:3460659. ISSN 0264-6021. PMC 1220898. PMID 10698692. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1220898" target="_blank">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1220898</a> <a href="#fnref:4" class="footnote-back-ref">↩</a></p></li> <li id="fn:5"><p>Cheung, P C; Salt I P; Davies S P; Hardie D G; Carling D (March 2000). "Characterization of AMP-activated protein kinase gamma-subunit isoforms and their role in AMP binding". Biochem. J. 346 (3). ENGLAND: 659–69. doi:10.1042/0264-6021:3460659. ISSN 0264-6021. PMC 1220898. PMID 10698692. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1220898" target="_blank">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1220898</a> <a href="#fnref:5" class="footnote-back-ref">↩</a></p></li> <li id="fn:6"><p>Harvard C, Strong E, Mercier E, Colnaghi R, Alcantara D, Chow E, Martell S, Tyson C, Hrynchak M, McGillivray B, Hamilton S, Marles S, Mhanni A, Dawson AJ, Pavlidis P, Qiao Y, Holden JJ, Lewis SM, O'Driscoll M, Rajcan-Separovic E (2011). "Understanding the impact of 1q21.1 copy number variant". Orphanet J Rare Dis. 6: 54. doi:10.1186/1750-1172-6-54. PMC 3180300. PMID 21824431. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3180300" target="_blank">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3180300</a> <a href="#fnref:6" class="footnote-back-ref">↩</a></p></li> </ol>