PHKA2

PHKA2
Identifiers
Aliases	PHKA2 , GSD9A, PHK, PYK, PYKL, XLG, XLG2, phosphorylase kinase regulatory subunit alpha 2
External IDs	OMIM: 300798 MGI: 97577 HomoloGene: 246 GeneCards: PHKA2
Gene location (Human) Chr. X chromosome (human) [1] Band Xp22.13 Start 18,892,298 bp [1] End 18,984,114 bp [1]
Gene location (Mouse) Chr. X chromosome (mouse) [2] Band X F4|X 73.95 cM Start 159,285,162 bp [2] End 159,381,874 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver right uterine tube body of pancreas pituitary gland anterior pituitary left lobe of thyroid gland right lobe of thyroid gland left ventricle Right adrenal gland pancreatic ductal cell Top expressed in brown adipose tissue subcutaneous adipose tissue white adipose tissue right ventricle internal carotid artery external carotid artery motor neuron Paneth cell mammary gland superior frontal gyrus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function catalytic activity calmodulin binding phosphorylase kinase activity protein binding Cellular component cytosol plasma membrane membrane phosphorylase kinase complex Biological process glycogen metabolic process protein phosphorylation generation of precursor metabolites and energy carbohydrate metabolic process glycogen catabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5256 110094 Ensembl ENSG00000044446 ENSMUSG00000031295 UniProt P46019 Q8BWJ3 RefSeq (mRNA) NM_000292 NM_001177878 NM_001177879 NM_172783 NM_001358966 NM_001358968 RefSeq (protein) NP_000283 NP_001171349 NP_001171350 NP_766371 NP_001345895 NP_001345897 Location (UCSC) Chr X: 18.89 – 18.98 Mb Chr X: 159.29 – 159.38 Mb PubMed search [3] [4]
Wikidata
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Phosphorylase b kinase regulatory subunit alpha, liver isoform is an enzyme that in humans is encoded by the PHKA2 gene. ^{[5] [6]}

References

1. GRCh38: Ensembl release 89: ENSG00000044446 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000031295 - 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. Willems P (Sep 1990). "Families with X-linked liver glycogenosis due to phosphorylase kinase deficiency". Clin Genet. 38 (1): 80. doi:10.1111/j.1399-0004.1990.tb03552.x. PMID   2387090. S2CID   86685815.
6. "Entrez Gene: PHKA2 phosphorylase kinase, alpha 2 (liver)".

Further reading

• Davidson JJ, Ozçelik T, Hamacher C, et al. (1992). "cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis". Proc. Natl. Acad. Sci. U.S.A. 89 (6): 2096–100. Bibcode:1992PNAS...89.2096D. doi: 10.1073/pnas.89.6.2096 . PMC   48603 . PMID   1372435.
• Wauters JG, Bossuyt PJ, Davidson J, et al. (1992). "Regional mapping of a liver alpha-subunit gene of phosphorylase kinase (PHKA) to the distal region of human chromosome Xp". Cytogenet. Cell Genet. 60 (3–4): 194–6. doi:10.1159/000133334. PMID   1505214.
• Daube H, Billich A, Mann K, Schramm HJ (1991). "Cleavage of phosphorylase kinase and calcium-free calmodulin by HIV-1 protease". Biochem. Biophys. Res. Commun. 178 (3): 892–8. doi:10.1016/0006-291X(91)90975-D. PMID   1872871.
• Willems PJ, Gerver WJ, Berger R, Fernandes J (1990). "The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients". Eur. J. Pediatr. 149 (4): 268–71. doi:10.1007/BF02106291. PMID   2303074. S2CID   7838940.
• Huijing F, Fernandes J (1969). "X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency". Am. J. Hum. Genet. 21 (3): 275–84. PMC   1706412 . PMID   5306139.
• Hirono H, Hayasaka K, Sato W, et al. (1995). "Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency". Biochem. Mol. Biol. Int. 36 (3): 505–11. PMID   7549948.
• Hendrickx J, Coucke P, Dams E, et al. (1995). "Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease". Hum. Mol. Genet. 4 (1): 77–83. doi:10.1093/hmg/4.1.77. PMID   7711737.
• van den Berg IE, van Beurden EA, Malingré HE, et al. (1995). "X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit". Am. J. Hum. Genet. 56 (2): 381–7. PMC   1801119 . PMID   7847371.
• Wüllrich A, Hamacher C, Schneider A, Kilimann MW (1993). "The multiphosphorylation domain of the phosphorylase kinase alpha M and alpha L subunits is a hotspot of differential mRNA processing and of molecular evolution". J. Biol. Chem. 268 (31): 23208–14. doi: 10.1016/S0021-9258(19)49449-0 . PMID   8226841.
• Hendrickx J, Coucke P, Bossuyt P, et al. (1993). "X-linked liver glycogenosis: localization and isolation of a candidate gene". Hum. Mol. Genet. 2 (5): 583–9. doi:10.1093/hmg/2.5.583. PMID   8518797.
• Hendrickx J, Dams E, Coucke P, et al. (1997). "X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase". Hum. Mol. Genet. 5 (5): 649–52. doi: 10.1093/hmg/5.5.649 . PMID   8733133.
• Burwinkel B, Shin YS, Bakker HD, et al. (1997). "Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2)". Hum. Mol. Genet. 5 (5): 653–8. doi: 10.1093/hmg/5.5.653 . PMID   8733134.
• Burwinkel B, Amat L, Gray RG, et al. (1998). "Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene". Hum. Genet. 102 (4): 423–9. doi:10.1007/s004390050715. PMID   9600238. S2CID   12630510.
• Hendrickx J, Bosshard NU, Willems P, Gitzelmann R (1999). "Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years". Eur. J. Pediatr. 157 (11): 919–23. doi:10.1007/s004310050967. PMID   9835437. S2CID   30403612.
• Hendrickx J, Lee P, Keating JP, et al. (1999). "Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II". Am. J. Hum. Genet. 64 (6): 1541–9. doi:10.1086/302399. PMC   1377897 . PMID   10330341.
• 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.
• Ban K, Sugiyama K, Goto K, et al. (2004). "Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency". Tohoku J. Exp. Med. 200 (1): 47–53. doi: 10.1620/tjem.200.47 . PMID   12862311.
• Pallen MJ (2004). "Glucoamylase-like domains in the alpha- and beta-subunits of phosphorylase kinase". Protein Sci. 12 (8): 1804–7. doi:10.1110/ps.0371103. PMC   2323967 . PMID   12876330.
• Johnson JM, Castle J, Garrett-Engele P, et al. (2004). "Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays". Science. 302 (5653): 2141–4. doi:10.1126/science.1090100. PMID   14684825. S2CID   10007258.

External links

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