Property Summary

NCBI Gene PubMed Count 35
Grant Count 41
R01 Count 33
Funding $4,359,810.13
PubMed Score 149.39
PubTator Score 123.03

Knowledge Summary

Patent (20,373)

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma -1.484 0.000
group 3 medulloblastoma 1.100 0.002

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.
More...