PRKAG2

PRKAG2
Identifiers
Aliases	PRKAG2, AAKG, AAKG2, CMH6, H91620p, WPWS, protein kinase AMP-activated non-catalytic subunit gamma 2
External IDs	MGI: 1336153 HomoloGene: 136125 GeneCards: PRKAG2
Genetically Related Diseases
bipolar disorder, kidney disease[1]
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 Cellular component • cytosol • nucleoplasm • extracellular fluid • nucleotide-activated protein kinase complex 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 metabolic process • 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 • cell cycle arrest • 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 Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
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_001170555 NM_001170556 NM_145401 NM_001310480
RefSeq (protein)	NP_001035723.1 NP_001291456.1 NP_001291460.1 NP_057287.2 NP_077747.1	NP_001164027.1 NP_663376.2
Location (UCSC)	Chr 7: 151.56 – 151.88 Mb	Chr 5: 24.86 – 25.1 Mb
PubMed search	[2]	[3]
Wikidata

View/Edit Human

View/Edit Mouse

5'-AMP-activated protein kinase subunit gamma-2 is an enzyme that in humans is encoded by the PRKAG2 gene.^[4][5][6]

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.^[6]

Interactions

PRKAG2 has been shown to interact with PRKAB2^[7] and PRKAB1.^[7]

References

1. "Diseases that are genetically associated with PRKAG2 view/edit references on wikidata".
2. "Human PubMed Reference:".
3. "Mouse PubMed Reference:".
4. 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.
5. 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.
6. "Entrez Gene: PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit".
7. 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. ENGLAND. 346 Pt 3: 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.
• 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). "[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, et al. (1991). "HIV inhibits the early steps of lymphocyte activation, including initiation of inositol phospholipid metabolism.". J. Immunol. 145 (11): 3699–705. 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.". 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. 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. 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.
• 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.
• "Toward a complete human genome sequence.". Genome Res. 8 (11): 1097–108. 1999. 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: 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.

External links

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