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PRKAG2
Identifiers
Aliases	PRKAG2, AAKG, AAKG2, CMH6, H91620p, WPWS, protein kinase AMP-activated non-catalytic subunit gamma 2
External IDs	OMIM: 602743; MGI: 1336153; HomoloGene: 136125; GeneCards: PRKAG2; OMA:PRKAG2 - orthologs
Gene location (Human) Chr. Chromosome 7 (human) Band 7q36.1 Start 151,556,124 bp End 151,877,125 bp
Gene location (Mouse) Chr. Chromosome 5 (mouse) Band 5|5 A3 Start 25,067,742 bp End 25,305,640 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right auricle cardiac muscle tissue of right atrium right coronary artery left ventricle left coronary artery popliteal artery tibial arteries gastric mucosa nucleus accumbens apex of heart Top expressed in seminiferous tubule atrium spermatid dentate gyrus of hippocampal formation granule cell tail of embryo superior frontal gyrus primary visual cortex atrioventricular valve spermatocyte subiculum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding ADP binding AMP-activated protein kinase activity protein kinase activator activity phosphorylase kinase regulator activity AMP binding cAMP-dependent protein kinase regulator activity cAMP-dependent protein kinase inhibitor activity ATP binding protein kinase binding adenyl ribonucleotide binding Cellular component cytosol nucleoplasm nucleotide-activated protein kinase complex extracellular space Biological process carnitine shuttle intracellular signal transduction sterol biosynthetic process regulation of fatty acid oxidation negative regulation of protein kinase activity regulation of glucose import lipid metabolism regulation of fatty acid biosynthetic process fatty acid metabolic process regulation of glycolytic process protein phosphorylation fatty acid biosynthetic process positive regulation of peptidyl-threonine phosphorylation regulation of fatty acid metabolic process ATP biosynthetic process glycogen metabolic process regulation of catalytic activity macroautophagy positive regulation of protein kinase activity regulation of signal transduction by p53 class mediator activation of protein kinase activity negative regulation of protein serine/threonine kinase activity regulation of macroautophagy regulation of protein serine/threonine kinase activity Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 51422 108099 Ensembl ENSG00000106617 ENSMUSG00000028944 UniProt Q9UGJ0 Q91WG5 RefSeq (mRNA) NM_001040633 NM_001304527 NM_001304531 NM_016203 NM_024429 NM_001363698 NM_001170555 NM_001170556 NM_145401 NM_001310480 RefSeq (protein) NP_001035723 NP_001291456 NP_001291460 NP_057287 NP_077747 NP_001350627 NP_001164026 NP_001164027 NP_001297409 NP_663376 Location (UCSC) Chr 7: 151.56 – 151.88 Mb Chr 5: 25.07 – 25.31 Mb PubMed search
Wikidata
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5'-AMP-activated protein kinase subunit gamma-2 is an enzyme that in humans is encoded by the PRKAG2 gene.

Function

AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family and encodes a protein with four CBS domains. Mutations in this gene have been associated with ventricular pre-excitation (Wolff–Parkinson–White syndrome), progressive conduction system disease and cardiac hypertrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.

Interactions

PRKAG2 has been shown to interact with PRKAB2 and PRKAB1.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000106617 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000028944 – 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. 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.
6. Gao G, Fernandez CS, Stapleton D, Auster AS, Widmer J, Dyck JR, Kemp BE, Witters LA (June 1996). "Non-catalytic beta- and gamma-subunit isoforms of the 5'-AMP-activated protein kinase". J Biol Chem. 271 (15): 8675–81. doi:10.1074/jbc.271.15.8675. PMID 8621499.
7. ^ "Entrez Gene: PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit".
8. ^ Cheung PC, 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 Pt 3 (3). ENGLAND: 659–69. doi:10.1042/0264-6021:3460659. ISSN 0264-6021. PMC 1220898. PMID 10698692.

Further reading

• Gollob MH, Green MS, Tang AS, Roberts R (2002). "PRKAG2 cardiac syndrome: familial ventricular preexcitation, conduction system disease, and cardiac hypertrophy". Curr. Opin. Cardiol. 17 (3): 229–34. doi:10.1097/00001573-200205000-00004. PMID 12015471. S2CID 33599152.
• Gollob MH (2003). "Glycogen storage disease as a unifying mechanism of disease in the PRKAG2 cardiac syndrome". Biochem. Soc. Trans. 31 (Pt 1): 228–31. doi:10.1042/BST0310228. PMID 12546691.
• Ofir M, Hochhauser E, Vidne BA, et al. (2007). "". Harefuah. 146 (10): 770–5, 813–4. PMID 17990392.
• Hofmann B, Nishanian P, Baldwin RL, et al. (1991). "HIV inhibits the early steps of lymphocyte activation, including initiation of inositol phospholipid metabolism". J. Immunol. 145 (11): 3699–705. doi:10.4049/jimmunol.145.11.3699. PMID 1978848.
• MacRae CA, Ghaisas N, Kass S, et al. (1995). "Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3" (PDF). J. Clin. Invest. 96 (3): 1216–20. doi:10.1172/JCI118154. PMC 185741. PMID 7657794.
• Hofmann B, Nishanian P, Nguyen T, et al. (1993). "Human immunodeficiency virus proteins induce the inhibitory cAMP/protein kinase A pathway in normal lymphocytes". Proc. Natl. Acad. Sci. U.S.A. 90 (14): 6676–80. Bibcode:1993PNAS...90.6676H. doi:10.1073/pnas.90.14.6676. PMC 46995. PMID 7688126.
• Hofmann B, Nishanian P, Fan J, et al. (1994). "HIV Gag p17 protein impairs proliferation of normal lymphocytes in vitro". AIDS. 8 (7): 1016–7. doi:10.1097/00002030-199407000-00025. PMID 7946090.
• Swingler S, Gallay P, Camaur D, et al. (1997). "The Nef protein of human immunodeficiency virus type 1 enhances serine phosphorylation of the viral matrix". J. Virol. 71 (6): 4372–7. doi:10.1128/JVI.71.6.4372-4377.1997. PMC 191654. PMID 9151826.
• Stapleton D, Woollatt E, Mitchelhill KI, et al. (1997). "AMP-activated protein kinase isoenzyme family: subunit structure and chromosomal location". FEBS Lett. 409 (3): 452–6. doi:10.1016/S0014-5793(97)00569-3. PMID 9224708. S2CID 39329574.
• Chen P, Mayne M, Power C, Nath A (1997). "The Tat protein of HIV-1 induces tumor necrosis factor-alpha production. Implications for HIV-1-associated neurological diseases". J. Biol. Chem. 272 (36): 22385–8. doi:10.1074/jbc.272.36.22385. PMID 9278385.
• Zidovetzki R, Wang JL, Chen P, et al. (1998). "Human immunodeficiency virus Tat protein induces interleukin 6 mRNA expression in human brain endothelial cells via protein kinase C- and cAMP-dependent protein kinase pathways". AIDS Res. Hum. Retroviruses. 14 (10): 825–33. doi:10.1089/aid.1998.14.825. PMID 9671211.
• Mayne M, Bratanich AC, Chen P, et al. (1998). "HIV-1 tat molecular diversity and induction of TNF-alpha: implications for HIV-induced neurological disease". Neuroimmunomodulation. 5 (3–4): 184–92. doi:10.1159/000026336. PMID 9730685. S2CID 19529677.
• Sanger Centre T, Washington University Genome Sequencing Cente T (1999). "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074.
• Cheung PC, Salt IP, Davies SP, et al. (2000). "Characterization of AMP-activated protein kinase gamma-subunit isoforms and their role in AMP binding". Biochem. J. 346 Pt 3 (3): 659–69. doi:10.1042/0264-6021:3460659. PMC 1220898. PMID 10698692.
• Lang T, Yu L, Tu Q, et al. (2001). "Molecular cloning, genomic organization, and mapping of PRKAG2, a heart abundant gamma2 subunit of 5'-AMP-activated protein kinase, to human chromosome 7q36". Genomics. 70 (2): 258–63. doi:10.1006/geno.2000.6376. PMID 11112354.
• Blair E, Redwood C, Ashrafian H, et al. (2001). "Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis". Hum. Mol. Genet. 10 (11): 1215–20. doi:10.1093/hmg/10.11.1215. PMID 11371514.
• Gollob MH, Green MS, Tang AS, et al. (2001). "Identification of a gene responsible for familial Wolff-Parkinson-White syndrome". N. Engl. J. Med. 344 (24): 1823–31. doi:10.1056/NEJM200106143442403. PMID 11407343.
• Hamilton SR, Stapleton D, O'Donnell JB, et al. (2001). "An activating mutation in the gamma1 subunit of the AMP-activated protein kinase". FEBS Lett. 500 (3): 163–8. doi:10.1016/S0014-5793(01)02602-3. PMID 11445078. S2CID 85248755.

External links

• GeneReviews/NCBI/NIH/UW entry on Familial Hypertrophic Cardiomyopathy Overview

• Biology

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