Property Summary

NCBI Gene PubMed Count 22
PubMed Score 8.65
PubTator Score 14.56

Knowledge Summary

Patent (3,208)

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma -2.421 0.000
lung adenocarcinoma 1.300 0.000

Synonym

Accession P15735 A8K0C7 B4DEB7 E9PEU3 P11800 PHK-gamma-LT
Symbols GSD9C

Gene

PDB

2Y7J  

  TechDev Info (1)

Gary Johnson Kinome profile via MIB/MS Technology

 Collection (1)

MLP Assay (1)

AID Type Active / Inconclusive / Inactive Description
1982 other 0 / 0 / 0 Kinase inhibition selectivity assay for compound SID-48409448

Gene RIF (3)

PMID Text
24389071 These cases add to the current knowledge of clinical variability in patients with PHKG2 mutations. Long term studies, involving follow-up of these patients into adulthood, are needed
24326380 Patients with PHKG2 mutations have a severe hepatic phenotype within the heterogeneous GSD IX disorder. A defect in PHKG2 should be considered in patients with suspected glycogenosis associated with significant liver fibrosis and cirrhosis.
17689125 PHKG2 mutations are associated with Glycogen storage disease type IX

AA Sequence

MTLDVGPEDELPDWAAAKEFYQKYDPKDVIGRGVSSVVRRCVHRATGHEFAVKIMEVTAERLSPEQLEEV      1 - 70
REATRRETHILRQVAGHPHIITLIDSYESSSFMFLVFDLMRKGELFDYLTEKVALSEKETRSIMRSLLEA     71 - 140
VSFLHANNIVHRDLKPENILLDDNMQIRLSDFGFSCHLEPGEKLRELCGTPGYLAPEILKCSMDETHPGY    141 - 210
GKEVDLWACGVILFTLLAGSPPFWHRRQILMLRMIMEGQYQFSSPEWDDRSSTVKDLISRLLQVDPEARL    211 - 280
TAEQALQHPFFERCEGSQPWNLTPRQRFRVAVWTVLAAGRVALSTHRVRPLTKNALLRDPYALRSVRHLI    281 - 350
DNCAFRLYGHWVKKGEQQNRAALFQHRPPGPFPIMGPEEEGDSAAITEDEAVLVLG                  351 - 406
//

Text Mined References (27)

PMID Year Title
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
24389071 2014 Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
24326380 2014 Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.
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.
21269460 2011 Initial characterization of the human central proteome.
17689125 Glycogen storage disease type IX: High variability in clinical phenotype.
17344846 2007 Patterns of somatic mutation in human cancer genomes.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
More...