PRKAG2

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 of heart 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.

Further reading

• Gollob MH, Green MS, Tang AS, Roberts R (May 2002). "PRKAG2 cardiac syndrome: familial ventricular preexcitation, conduction system disease, and cardiac hypertrophy". Current Opinion in Cardiology. 17 (3): 229–234. doi:10.1097/00001573-200205000-00004. PMID 12015471. S2CID 33599152.
• Gollob MH (February 2003). "Glycogen storage disease as a unifying mechanism of disease in the PRKAG2 cardiac syndrome". Biochemical Society Transactions. 31 (Pt 1): 228–231. doi:10.1042/BST0310228. PMID 12546691.
• Ofir M, Hochhauser E, Vidne BA, Freimark D, Arad M (October 2007). "[AMP-activated protein kinase: how a mistake in energy gauge causes glycogen storage]". Harefuah. 146 (10): 770–5, 813–4. PMID 17990392.
• Hofmann B, Nishanian P, Baldwin RL, Insixiengmay P, Nel A, Fahey JL (December 1990). "HIV inhibits the early steps of lymphocyte activation, including initiation of inositol phospholipid metabolism". Journal of Immunology. 145 (11): 3699–3705. doi:10.4049/jimmunol.145.11.3699. PMID 1978848.
• MacRae CA, Ghaisas N, Kass S, Donnelly S, Basson CT, Watkins HC, et al. (September 1995). "Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3". The Journal of Clinical Investigation. 96 (3): 1216–1220. doi:10.1172/JCI118154. PMC 185741. PMID 7657794.
• Hofmann B, Nishanian P, Nguyen T, Insixiengmay P, Fahey JL (July 1993). "Human immunodeficiency virus proteins induce the inhibitory cAMP/protein kinase A pathway in normal lymphocytes". Proceedings of the National Academy of Sciences of the United States of America. 90 (14): 6676–6680. Bibcode:1993PNAS...90.6676H. doi:10.1073/pnas.90.14.6676. PMC 46995. PMID 7688126.
• Hofmann B, Nishanian P, Fan J, Nguyen T, Fahey JL (July 1994). "HIV Gag p17 protein impairs proliferation of normal lymphocytes in vitro". AIDS. 8 (7): 1016–1017. doi:10.1097/00002030-199407000-00025. PMID 7946090.
• Swingler S, Gallay P, Camaur D, Song J, Abo A, Trono D (June 1997). "The Nef protein of human immunodeficiency virus type 1 enhances serine phosphorylation of the viral matrix". Journal of Virology. 71 (6): 4372–4377. doi:10.1128/JVI.71.6.4372-4377.1997. PMC 191654. PMID 9151826.
• Stapleton D, Woollatt E, Mitchelhill KI, Nicholl JK, Fernandez CS, Michell BJ, et al. (June 1997). "AMP-activated protein kinase isoenzyme family: subunit structure and chromosomal location". FEBS Letters. 409 (3): 452–456. Bibcode:1997FEBSL.409..452S. doi:10.1016/S0014-5793(97)00569-3. PMID 9224708. S2CID 39329574.
• Chen P, Mayne M, Power C, Nath A (September 1997). "The Tat protein of HIV-1 induces tumor necrosis factor-alpha production. Implications for HIV-1-associated neurological diseases". The Journal of Biological Chemistry. 272 (36): 22385–22388. doi:10.1074/jbc.272.36.22385. PMID 9278385.
• Zidovetzki R, Wang JL, Chen P, Jeyaseelan R, Hofman F (July 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 Research and Human Retroviruses. 14 (10): 825–833. doi:10.1089/aid.1998.14.825. PMID 9671211.
• Mayne M, Bratanich AC, Chen P, Rana F, Nath A, Power C (1998). "HIV-1 tat molecular diversity and induction of TNF-alpha: implications for HIV-induced neurological disease". Neuroimmunomodulation. 5 (3–4): 184–192. doi:10.1159/000026336. PMID 9730685. S2CID 19529677.
• Sanger Centre T, Washington University Genome Sequencing Cente T (November 1998). "Toward a complete human genome sequence". Genome Research. 8 (11): 1097–1108. doi:10.1101/gr.8.11.1097. PMID 9847074.
• Cheung PC, Salt IP, Davies SP, Hardie DG, Carling D (March 2000). "Characterization of AMP-activated protein kinase gamma-subunit isoforms and their role in AMP binding". The Biochemical Journal. 346 Pt 3 (Pt 3): 659–669. doi:10.1042/0264-6021:3460659. PMC 1220898. PMID 10698692.
• Lang T, Yu L, Tu Q, Jiang J, Chen Z, Xin Y, et al. (December 2000). "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): 258–263. doi:10.1006/geno.2000.6376. PMID 11112354.
• Blair E, Redwood C, Ashrafian H, Oliveira M, Broxholme J, Kerr B, et al. (May 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". Human Molecular Genetics. 10 (11): 1215–1220. doi:10.1093/hmg/10.11.1215. PMID 11371514.
• Gollob MH, Green MS, Tang AS, Gollob T, Karibe A, Ali Hassan AS, et al. (June 2001). "Identification of a gene responsible for familial Wolff-Parkinson-White syndrome". The New England Journal of Medicine. 344 (24): 1823–1831. doi:10.1056/NEJM200106143442403. PMID 11407343.
• Hamilton SR, Stapleton D, O'Donnell JB, Kung JT, Dalal SR, Kemp BE, et al. (July 2001). "An activating mutation in the gamma1 subunit of the AMP-activated protein kinase". FEBS Letters. 500 (3): 163–168. Bibcode:2001FEBSL.500..163H. doi:10.1016/S0014-5793(01)02602-3. PMID 11445078. S2CID 85248755.

External links

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