PHKG2

PHKG2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2Y7J
Identifiers
Aliases	PHKG2, GSD9C, phosphorylase kinase catalytic subunit gamma 2
External IDs	OMIM: 172471; MGI: 1916211; HomoloGene: 47915; GeneCards: PHKG2; OMA:PHKG2 - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16p11.2 Start 30,748,293 bp[1] End 30,761,176 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 F3 Start 127,172,512 bp[2] End 127,182,479 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left testis right testis granulocyte mucosa of transverse colon right lobe of liver anterior pituitary right uterine tube right lobe of thyroid gland left lobe of thyroid gland right hemisphere of cerebellum Top expressed in seminiferous tubule spermatid spermatocyte granulocyte superior frontal gyrus primary visual cortex facial motor nucleus cerebellar cortex thymus neural layer of retina More reference expression data BioGPS n/a
Gene ontology Molecular function phosphorylase kinase activity transferase activity nucleotide binding protein kinase activity calmodulin binding kinase activity protein serine/threonine kinase activity tau-protein kinase activity enzyme binding ATP binding protein binding calmodulin-dependent protein kinase activity Cellular component phosphorylase kinase complex cytosol cellular component Biological process phosphorylation generation of precursor metabolites and energy protein phosphorylation glycogen biosynthetic process positive regulation of glycogen catabolic process glycogen metabolic process peptidyl-serine phosphorylation peptidyl-threonine phosphorylation intracellular signal transduction carbohydrate metabolic process glycogen catabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5261 68961 Ensembl ENSG00000156873 ENSMUSG00000030815 UniProt P15735 Q9DB30 RefSeq (mRNA) NM_001172432 NM_000294 NM_026888 NM_001360741 RefSeq (protein) NP_000285 NP_001165903 NP_081164 NP_001347670 Location (UCSC) Chr 16: 30.75 – 30.76 Mb Chr 7: 127.17 – 127.18 Mb PubMed search [3] [4]
Wikidata
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Phosphorylase b kinase gamma catalytic chain, testis/liver isoform is an enzyme that in humans is encoded by the PHKG2 gene.[5][6][7]

The PHKG2 gene provides instructions for making one piece, the gamma subunit, of the phosphorylase b kinase enzyme. This enzyme is made up of 16 subunits, four each of the alpha, beta, gamma, and delta subunits. (Each subunit is produced from a different gene.) The gamma subunit performs the function of phosphorylase b kinase enzyme, and the other subunits help regulate its activity. This enzyme is found in various tissues, although it is most abundant in the liver and muscles. One version of the enzyme is found in liver cells and another in muscle cells. The gamma-2 subunit produced from the PHKG2 gene is part of the enzyme found in the liver.[8]

Phosphorylase b kinase plays an important role in providing energy for cells. The main source of cellular energy is a simple sugar called glucose. Glucose is stored in muscle and liver cells in a form called glycogen. Glycogen can be broken down rapidly when glucose is needed, for instance to maintain normal levels of glucose in the blood between meals. Phosphorylase b kinase turns on (activates) another enzyme called glycogen phosphorylase b by converting it to the more active form, glycogen phosphorylase a. When active, this enzyme breaks down glycogen.[8]

References

1. GRCh38: Ensembl release 89: ENSG00000156873 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000030815 – 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. Hanks SK (Mar 1989). "Messenger ribonucleic acid encoding an apparent isoform of phosphorylase kinase catalytic subunit is abundant in the adult testis". Mol Endocrinol. 3 (1): 110–6. doi:10.1210/mend-3-1-110. PMID 2915644.
6. Whitmore SA, Apostolou S, Lane S, Nancarrow JK, Phillips HA, Richards RI, Sutherland GR, Callen DF (Aug 1994). "Isolation and characterization of transcribed sequences from a chromosome 16 hn-cDNA library and the physical mapping of genes and transcribed sequences using a high-resolution somatic cell panel of human chromosome 16". Genomics. 20 (2): 169–75. doi:10.1006/geno.1994.1150. PMID 8020963.
7. "Entrez Gene: PHKG2 phosphorylase kinase, gamma 2 (testis)".
8. "PHKG2 gene". ghr.nlm.nih.gov. Genetics home reference. Retrieved 9 October 2018. This article incorporates text from this source, which is in the public domain.

Further reading

• Hanks SK (1987). "Homology probing: identification of cDNA clones encoding members of the protein-serine kinase family". Proc. Natl. Acad. Sci. U.S.A. 84 (2): 388–92. Bibcode:1987PNAS...84..388H. doi:10.1073/pnas.84.2.388. PMC 304212. PMID 2948189.
• Søvik O, deBarsy T, Maehle B (1983). "Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance". Eur. J. Pediatr. 139 (3): 210. doi:10.1007/BF01377363. PMID 6962066. S2CID 21587211.
• Huang CY, Yuan CJ, Livanova NB, Graves DJ (1994). "Expression, purification, characterization, and deletion mutations of phosphorylase kinase gamma subunit: identification of an inhibitory domain in the gamma subunit". Mol. Cell. Biochem. 127–128: 7–18. doi:10.1007/BF01076753. PMID 7935363. S2CID 22905953.
• Maichele AJ, Burwinkel B, Maire I, et al. (1996). "Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans". Nat. Genet. 14 (3): 337–40. doi:10.1038/ng1196-337. PMID 8896567. S2CID 2663835.
• Lowe ED, Noble ME, Skamnaki VT, et al. (1998). "The crystal structure of a phosphorylase kinase peptide substrate complex: kinase substrate recognition". EMBO J. 16 (22): 6646–58. doi:10.1093/emboj/16.22.6646. PMC 1170269. PMID 9362479.
• Burwinkel B, Shiomi S, Al Zaben A, Kilimann MW (1998). "Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis". Hum. Mol. Genet. 7 (1): 149–54. doi:10.1093/hmg/7.1.149. PMID 9384616.
• Burwinkel B, Tanner MS, Kilimann MW (2000). "Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R)". J. Med. Genet. 37 (5): 376–7. doi:10.1136/jmg.37.5.376. PMC 1734590. PMID 10905889.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Burwinkel B, Rootwelt T, Kvittingen EA, et al. (2004). "Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene". Pediatr. Res. 54 (6): 834–9. doi:10.1203/01.PDR.0000088069.09275.10. PMID 12930917.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Beauchamp NJ, Dalton A, Ramaswami U, et al. (2007). "Glycogen storage disease type IX: High variability in clinical phenotype". Mol. Genet. Metab. 92 (1–2): 88–99. doi:10.1016/j.ymgme.2007.06.007. PMID 17689125.

External links

• GeneReviews/NCBI/NIH/UW entry on Phosphorylase Kinase Deficiency, Glycogen Storage Disease Type IX