PHKG2: Difference between revisions

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{{Infobox_gene}}
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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]].<ref name="pmid2915644">{{cite journal | author = Hanks SK | title = Messenger ribonucleic acid encoding an apparent isoform of phosphorylase kinase catalytic subunit is abundant in the adult testis | journal = Mol Endocrinol | volume = 3 | issue = 1 | pages = 110–6 |date=Mar 1989 | pmid = 2915644 | pmc =  | doi =10.1210/mend-3-1-110 }}</ref><ref name="pmid8020963">{{cite journal |vauthors=Whitmore SA, Apostolou S, Lane S, Nancarrow JK, Phillips HA, Richards RI, Sutherland GR, Callen DF | title = 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 | journal = Genomics | volume = 20 | issue = 2 | pages = 169–75 |date=Aug 1994 | pmid = 8020963 | pmc =  | doi = 10.1006/geno.1994.1150 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PHKG2 phosphorylase kinase, gamma 2 (testis)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5261| accessdate = }}</ref>
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{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Phosphorylase kinase, gamma 2 (testis)
| HGNCid = 8931
| Symbol = PHKG2
| AltSymbols =;
| OMIM = 172471
| ECnumber =
| Homologene = 47915
| MGIid = 1916211
  | Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0004672 |text = protein kinase activity}} {{GNF_GO|id=GO:0004674 |text = protein serine/threonine kinase activity}} {{GNF_GO|id=GO:0004689 |text = phosphorylase kinase activity}} {{GNF_GO|id=GO:0005516 |text = calmodulin binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0016740 |text = transferase activity}}
  | Component = {{GNF_GO|id=GO:0005575 |text = cellular_component}} {{GNF_GO|id=GO:0005964 |text = phosphorylase kinase complex}}
| Process = {{GNF_GO|id=GO:0005975 |text = carbohydrate metabolic process}} {{GNF_GO|id=GO:0005978 |text = glycogen biosynthetic process}} {{GNF_GO|id=GO:0006091 |text = generation of precursor metabolites and energy}} {{GNF_GO|id=GO:0006468 |text = protein amino acid phosphorylation}} {{GNF_GO|id=GO:0008150 |text = biological_process}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 5261
    | Hs_Ensembl =   
    | Hs_RefseqProtein = NP_000285
    | Hs_RefseqmRNA = NM_000294
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 
    | Hs_GenLoc_start = 
    | Hs_GenLoc_end = 
    | Hs_Uniprot = 
    | Mm_EntrezGene = 68961
    | Mm_Ensembl = ENSMUSG00000030815
    | Mm_RefseqmRNA = NM_026888
    | Mm_RefseqProtein = NP_081164
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 7
    | Mm_GenLoc_start = 127364552
    | Mm_GenLoc_end = 127374453
    | Mm_Uniprot = Q9DB30
  }}
}}
'''Phosphorylase kinase, gamma 2 (testis)''', also known as '''PHKG2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PHKG2 phosphorylase kinase, gamma 2 (testis)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5261| accessdate = }}</ref>


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==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Hanks SK |title=Messenger ribonucleic acid encoding an apparent isoform of phosphorylase kinase catalytic subunit is abundant in the adult testis. |journal=Mol. Endocrinol. |volume=3 |issue= 1 |pages= 110-6 |year= 1989 |pmid= 2915644 |doi=  }}
*{{cite journal  | author=Hanks SK |title=Homology probing: identification of cDNA clones encoding members of the protein-serine kinase family. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=84 |issue= 2 |pages= 388–92 |year= 1987 |pmid= 2948189 |doi=10.1073/pnas.84.2.388  | pmc=304212 }}
*{{cite journal  | author=Hanks SK |title=Homology probing: identification of cDNA clones encoding members of the protein-serine kinase family. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=84 |issue= 2 |pages= 388-92 |year= 1987 |pmid= 2948189 |doi=  }}
*{{cite journal  |vauthors=Søvik O, deBarsy T, Maehle B |title=Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance. |journal=Eur. J. Pediatr. |volume=139 |issue= 3 |pages= 210 |year= 1983 |pmid= 6962066 |doi=10.1007/BF01377363 }}
*{{cite journal  | author=Søvik O, deBarsy T, Maehle B |title=Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance. |journal=Eur. J. Pediatr. |volume=139 |issue= 3 |pages= 210 |year= 1983 |pmid= 6962066 |doi=  }}
*{{cite journal  |vauthors=Huang CY, Yuan CJ, Livanova NB, Graves DJ |title=Expression, purification, characterization, and deletion mutations of phosphorylase kinase gamma subunit: identification of an inhibitory domain in the gamma subunit. |journal=Mol. Cell. Biochem. |volume=127-128 |issue=  |pages= 7–18 |year= 1994 |pmid= 7935363 |doi=10.1007/BF01076753  }}
*{{cite journal  | author=Huang CY, Yuan CJ, Livanova NB, Graves DJ |title=Expression, purification, characterization, and deletion mutations of phosphorylase kinase gamma subunit: identification of an inhibitory domain in the gamma subunit. |journal=Mol. Cell. Biochem. |volume=127-128 |issue=  |pages= 7-18 |year= 1994 |pmid= 7935363 |doi=  }}
*{{cite journal   |vauthors=Maichele AJ, Burwinkel B, Maire I, etal |title=Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. |journal=Nat. Genet. |volume=14 |issue= 3 |pages= 337–40 |year= 1996 |pmid= 8896567 |doi= 10.1038/ng1196-337 }}
*{{cite journal  | author=Whitmore SA, Apostolou S, Lane S, ''et al.'' |title=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. |journal=Genomics |volume=20 |issue= 2 |pages= 169-75 |year= 1994 |pmid= 8020963 |doi= 10.1006/geno.1994.1150 }}
*{{cite journal   |vauthors=Lowe ED, Noble ME, Skamnaki VT, etal |title=The crystal structure of a phosphorylase kinase peptide substrate complex: kinase substrate recognition. |journal=EMBO J. |volume=16 |issue= 22 |pages= 6646–58 |year= 1998 |pmid= 9362479 |doi= 10.1093/emboj/16.22.6646 | pmc=1170269 }}
*{{cite journal | author=Maichele AJ, Burwinkel B, Maire I, ''et al.'' |title=Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. |journal=Nat. Genet. |volume=14 |issue= 3 |pages= 337-40 |year= 1996 |pmid= 8896567 |doi= 10.1038/ng1196-337 }}
*{{cite journal  |vauthors=Burwinkel B, Shiomi S, Al Zaben A, Kilimann MW |title=Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. |journal=Hum. Mol. Genet. |volume=7 |issue= 1 |pages= 149–54 |year= 1998 |pmid= 9384616 |doi=10.1093/hmg/7.1.149 }}
*{{cite journal | author=Lowe ED, Noble ME, Skamnaki VT, ''et al.'' |title=The crystal structure of a phosphorylase kinase peptide substrate complex: kinase substrate recognition. |journal=EMBO J. |volume=16 |issue= 22 |pages= 6646-58 |year= 1998 |pmid= 9362479 |doi= 10.1093/emboj/16.22.6646 }}
*{{cite journal  |vauthors=Burwinkel B, Tanner MS, Kilimann MW |title=Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) |journal=J. Med. Genet. |volume=37 |issue= 5 |pages= 376–7 |year= 2000 |pmid= 10905889 |doi=10.1136/jmg.37.5.376  | pmc=1734590 }}
*{{cite journal  | author=Burwinkel B, Shiomi S, Al Zaben A, Kilimann MW |title=Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. |journal=Hum. Mol. Genet. |volume=7 |issue= 1 |pages= 149-54 |year= 1998 |pmid= 9384616 |doi=  }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
*{{cite journal  | author=Burwinkel B, Tanner MS, Kilimann MW |title=Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) |journal=J. Med. Genet. |volume=37 |issue= 5 |pages= 376-7 |year= 2000 |pmid= 10905889 |doi=  }}
*{{cite journal   |vauthors=Burwinkel B, Rootwelt T, Kvittingen EA, etal |title=Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene. |journal=Pediatr. Res. |volume=54 |issue= 6 |pages= 834–9 |year= 2004 |pmid= 12930917 |doi= 10.1203/01.PDR.0000088069.09275.10 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal | author=Burwinkel B, Rootwelt T, Kvittingen EA, ''et al.'' |title=Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene. |journal=Pediatr. Res. |volume=54 |issue= 6 |pages= 834-9 |year= 2004 |pmid= 12930917 |doi= 10.1203/01.PDR.0000088069.09275.10 }}
*{{cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal   |vauthors=Beauchamp NJ, Dalton A, Ramaswami U, etal |title=Glycogen storage disease type IX: High variability in clinical phenotype. |journal=Mol. Genet. Metab. |volume=92 |issue= 1-2 |pages= 88–99 |year= 2007 |pmid= 17689125 |doi= 10.1016/j.ymgme.2007.06.007 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal | author=Beauchamp NJ, Dalton A, Ramaswami U, ''et al.'' |title=Glycogen storage disease type IX: High variability in clinical phenotype. |journal=Mol. Genet. Metab. |volume=92 |issue= 1-2 |pages= 88-99 |year= 2007 |pmid= 17689125 |doi= 10.1016/j.ymgme.2007.06.007 }}
}}
}}
{{refend}}
{{refend}}
==External links==
* [https://www.ncbi.nlm.nih.gov/books/NBK55061/  GeneReviews/NCBI/NIH/UW entry on Phosphorylase Kinase Deficiency, Glycogen Storage Disease Type IX]
{{Serine/threonine-specific protein kinases}}
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Revision as of 18:04, 7 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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

External links


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