PHKG2

From Wikipedia, the free encyclopedia

Phosphorylase kinase, gamma 2 (testis)

Identifiers

External IDs

OMIM: 172471 MGI: 1916211 HomoloGene: 47915

Gene ontology
Molecular Function:	• nucleotide binding • protein kinase activity • protein serine/threonine kinase activity • phosphorylase kinase activity • calmodulin binding • ATP binding • transferase activity
Cellular Component:	• cellular_component • phosphorylase kinase complex
Biological Process:	• carbohydrate metabolic process • glycogen biosynthetic process • generation of precursor metabolites and energy • protein amino acid phosphorylation • biological_process

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_000294 (mRNA)
NP_000285 (protein)

NM_026888 (mRNA)
NP_081164 (protein)

Location

n/a

Chr 7: 127.36 - 127.37 Mb

Pubmed search

[1]

[2]

Phosphorylase kinase, gamma 2 (testis), also known as PHKG2, is a human gene.^[1]

[edit] References

^ Entrez Gene: PHKG2 phosphorylase kinase, gamma 2 (testis).

[edit] Further reading

Hanks SK (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. PMID 2915644.
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. 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. 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. PMID 7935363.
Whitmore SA, Apostolou S, Lane S, et al. (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.
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. 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. 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. 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. 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. 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.