Property Summary

NCBI Gene PubMed Count 35
PubMed Score 149.39
PubTator Score 123.03

Knowledge Summary

Patent (20,373)

TINX Plot

  Disease (7)

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma -1.484 1.8e-05
group 3 medulloblastoma 1.100 1.6e-03

Protein-protein Interaction (3)

Gene RIF (9)

PMID Text
27103379 In this study we summarized the PHKA2 mutation spectrum in Korean glycogen storage disease type IX patients and found that the most common mutation type was gross deletion.
21911307 We found that the missense mutation p.Pro1205Leu in the PHKA2 gene is a common cause of hepatic phosphorylase-kinase deficiency in Dutch patients, suggesting a founder-effect
21857251 The present case also represents the first known reported case of liver PhK deficiency with an PHKA2 mutation and liver cirrhosis.
21131218 two novel mutations found in two GSD type IX patients with different residual enzyme activities
18950708 Results show that phosphorylase kinase (PhK) alpha subunit missense mutations or small in-frame deletions/insertions may have a direct impact on the PhK alpha functions.
17581768 Alu-mediated, large deletion-spanning introns 19-26 in PHKA2 is associated with X-linked liver glycogenosis
12876330 alpha- and beta-subunits possess amino-terminal glucoamylase-like domains and suggests that they might possess a previously overlooked amylase activity
12862311 Gene analysis was confirmed to represent a useful procedure for diagnosing x-linked liver glycogenosis, for which liver biopsy had previously been required to detect hepatic phosphorylase kinase deficiency
1872871 The alpha subunit of phosphorylase kinase is preferentially cleaved at arg748-val749 by HIV-1 protease

AA Sequence

MRSRSNSGVRLDGYARLVQQTILCYQNPVTGLLSASHEQKDAWVRDNIYSILAVWGLGMAYRKNADRDED      1 - 70
KAKAYELEQNVVKLMRGLLQCMMRQVAKVEKFKHTQSTKDSLHAKYNTATCGTVVGDDQWGHLQVDATSL     71 - 140
FLLFLAQMTASGLRIIFTLDEVAFIQNLVFYIEAAYKVADYGMWERGDKTNQGIPELNASSVGMAKAALE    141 - 210
AIDELDLFGAHGGRKSVIHVLPDEVEHCQSILFSMLPRASTSKEIDAGLLSIISFPAFAVEDVNLVNVTK    211 - 280
NEIISKLQGRYGCCRFLRDGYKTPREDPNRLHYDPAELKLFENIECEWPVFWTYFIIDGVFSGDAVQVQE    281 - 350
YREALEGILIRGKNGIRLVPELYAVPPNKVDEEYKNPHTVDRVPMGKVPHLWGQSLYILSSLLAEGFLAA    351 - 420
GEIDPLNRRFSTSVKPDVVVQVTVLAENNHIKDLLRKHGVNVQSIADIHPIQVQPGRILSHIYAKLGRNK    421 - 490
NMNLSGRPYRHIGVLGTSKLYVIRNQIFTFTPQFTDQHHFYLALDNEMIVEMLRIELAYLCTCWRMTGRP    491 - 560
TLTFPISRTMLTNDGSDIHSAVLSTIRKLEDGYFGGARVKLGNLSEFLTTSFYTYLTFLDPDCDEKLFDN    561 - 630
ASEGTFSPDSDSDLVGYLEDTCNQESQDELDHYINHLLQSTSLRSYLPPLCKNTEDRHVFSAIHSTRDIL    631 - 700
SVMAKAKGLEVPFVPMTLPTKVLSAHRKSLNLVDSPQPLLEKVPESDFQWPRDDHGDVDCEKLVEQLKDC    701 - 770
SNLQDQADILYILYVIKGPSWDTNLSGQHGVTVQNLLGELYGKAGLNQEWGLIRYISGLLRKKVEVLAEA    771 - 840
CTDLLSHQKQLTVGLPPEPREKIISAPLPPEELTKLIYEASGQDISIAVLTQEIVVYLAMYVRAQPSLFV    841 - 910
EMLRLRIGLIIQVMATELARSLNCSGEEASESLMNLSPFDMKNLLHHILSGKEFGVERSVRPIHSSTSSP    911 - 980
TISIHEVGHTGVTKTERSGINRLRSEMKQMTRRFSADEQFFSVGQAASSSAHSSKSARSSTPSSPTGTSS    981 - 1050
SDSGGHHIGWGERQGQWLRRRRLDGAINRVPVGFYQRVWKILQKCHGLSIDGYVLPSSTTREMTPHEIKF   1051 - 1120
AVHVESVLNRVPQPEYRQLLVEAIMVLTLLSDTEMTSIGGIIHVDQIVQMASQLFLQDQVSIGAMDTLEK   1121 - 1190
DQATGICHFFYDSAPSGAYGTMTYLTRAVASYLQELLPNSGCQMQ                            1191 - 1235
//

Text Mined References (42)

PMID Year Title
27103379 2016 PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations.
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23455922 2013 Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21911307 2011 Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.
21857251 2012 Glycogen storage disease type IX: novel PHKA2 missense mutation and cirrhosis.
21131218 2011 Novel mutations in PHKA2 gene in glycogen storage disease type IX patients from Hong Kong, China.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19369195 2009 Large-scale proteomics analysis of the human kinome.
18950708 2008 3D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
17689125 Glycogen storage disease type IX: High variability in clinical phenotype.
17581768 Identification of Alu-mediated, large deletion-spanning introns 19-26 in PHKA2 in a patient with X-linked liver glycogenosis (hepatic phosphorylase kinase deficiency).
16565220 2006 Phosphoproteome analysis of the human mitotic spindle.
15851553 2005 The lacrimal gland transcriptome is an unusually rich source of rare and poorly characterized gene transcripts.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15231748 2004 Functional proteomics mapping of a human signaling pathway.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14684825 2003 Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays.
12876330 2003 Glucoamylase-like domains in the alpha- and beta-subunits of phosphorylase kinase.
12862311 2003 Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10330341 1999 Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II.
9835437 1998 Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years.
9600238 1998 Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.
8733134 1996 Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).
8733133 1996 X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase.
8518797 1993 X-linked liver glycogenosis: localization and isolation of a candidate gene.
8226841 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.
7847371 1995 X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.
7711737 1995 Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.
7549948 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.
5306139 1969 X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency.
2387090 1990 Families with X-linked liver glycogenosis due to phosphorylase kinase deficiency.
2303074 1990 The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients.
1505214 1992 Regional mapping of a liver alpha-subunit gene of phosphorylase kinase (PHKA) to the distal region of human chromosome Xp.
1372435 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.