PHKG2

Phosphorylase kinase, gamma 2 (testis)
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2Y7J​
Identifiers
Symbols	PHKG2 ; GSD9C
External IDs	OMIM: 172471 MGI: 1916211 HomoloGene: 47915 ChEMBL: 2349 GeneCards: PHKG2 Gene
EC number	2.7.11.19
Gene ontology Molecular function • protein serine/threonine kinase activity • phosphorylase kinase activity • calmodulin binding • ATP binding • enzyme binding • tau-protein kinase activity Cellular component • cellular_component • cytosol • phosphorylase kinase complex Biological process • carbohydrate metabolic process • glycogen metabolic process • glycogen biosynthetic process • glycogen catabolic process • glucose metabolic process • generation of precursor metabolites and energy • protein phosphorylation • small molecule metabolic process • positive regulation of glycogen catabolic process Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	5261	68961
Ensembl	ENSG00000156873	ENSMUSG00000030815
UniProt	P15735	Q9DB30
RefSeq (mRNA)	NM_000294	NM_026888
RefSeq (protein)	NP_000285	NP_081164
Location (UCSC)	Chr 16: 30.75 – 30.76 Mb	Chr 7: 127.57 – 127.58 Mb
PubMed search

Phosphorylase b kinase gamma catalytic chain, testis/liver isoform is an enzyme that in humans is encoded by the PHKG2 gene.^[1][2][3]

References

1. 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.
2. 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.
3. "Entrez Gene: PHKG2 phosphorylase kinase, gamma 2 (testis)".

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. 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.
• 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.
• 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.
• 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. 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