Property Summary

NCBI Gene PubMed Count 85
PubMed Score 85.52
PubTator Score 74.28

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (8)

Disease Target Count P-value
malignant mesothelioma 3163 9.15186004302692E-8
medulloblastoma, large-cell 6234 8.0538783701888E-6
atypical teratoid / rhabdoid tumor 4369 3.32280807475398E-5
osteosarcoma 7933 5.7251828512646E-5
adult high grade glioma 2148 3.10405134312352E-4
psoriasis 6685 4.73067840592363E-4
glioblastoma 5572 0.00144678268294642
primitive neuroectodermal tumor 3031 0.00267119864508902
pancreatic ductal adenocarcinoma liver metastasis 1795 0.00292980652072846
group 4 medulloblastoma 1875 0.00354100337230253
Endometriosis 535 0.0193856939366602
ovarian cancer 8492 0.0317144957207412
Disease Target Count Z-score Confidence
Hypertrophic Cardiomyopathy 56 0.0 5.0
Disease Target Count Z-score Confidence
Cardiomyopathy 110 4.978 2.5
Glycogen storage disease 37 4.684 2.3

Expression

  Differential Expression (12)

Disease log2 FC p
malignant mesothelioma -2.600 0.000
psoriasis -1.100 0.000
osteosarcoma -1.564 0.000
atypical teratoid / rhabdoid tumor -1.600 0.000
glioblastoma -1.200 0.001
medulloblastoma, large-cell -2.600 0.000
primitive neuroectodermal tumor -1.300 0.003
pancreatic ductal adenocarcinoma liver m... -1.029 0.003
adult high grade glioma -1.400 0.000
group 4 medulloblastoma -1.200 0.004
Endometriosis -1.076 0.019
ovarian cancer 1.200 0.032

Synonym

Accession Q9UGJ0 Q53Y07 Q6NUI0 Q75MP4 Q9NUZ9 Q9UDN8 Q9ULX8 AMPK gamma2
Symbols AAKG
CMH6
WPWS
AAKG2
H91620p

Gene

PANTHER Protein Class (2)

  Ortholog (5)

Species Source
Chimp OMA EggNOG
Mouse OMA EggNOG
Dog OMA EggNOG
Opossum OMA EggNOG
Xenopus OMA EggNOG

Gene RIF (58)

PMID Text
26496977 PRKAG2 cardiac syndrome may present with eccentric distribution of LVH, involving focal mid-infero-lateral pattern in the early disease stage, and more diffuse pattern but focusing on interventricular septum in advanced cases.
23992123 Overexpression of G100S mutation in PRKAG2 causes Wolff-Parkinson-White syndrome in transgenic zebrafish.
23810891 The PRKAG2 autosomal dominant cardiac syndrome may be commonly characterized by Left Ventricular Hypertrophy, an accessory pathway, and progression to conduction disease requiring implantation of a pacemaker.
23778007 Its mutation causes AMPK signaling abnormality which leads to cardiac syndrome.
23115293 The authors found that the gene encoding the gamma2 subunit of AMP-activated protein kinase (AMPK) strongly correlated with Zaire Ebolavirus transduction in the tumor cell panel.
23034890 Single nucleotide polymorphisms in PRKAG2 is associated with drug response in breast cancer.
22897928 Data indicate that except AMPK-alpha1, expressions of the other five AMPK subunits -alpha2, -beta1, -beta2, -gamma1 and -gamma2 are significantly higher in ovarian carcinomas.
21813245 found a significant association between the -26C/T polymorphism and cognitive impairment. Moreover, this polymorphism was also related to the presence of diabetes.
21409595 These two individuals may be considered to suffer from a combination of both a classical hypertrophic cardiomyopathy (due to the two mutations in MYBPC3) and a glycogen storage cardiomyopathy (due to the mutation in PRKAG2).
21344388 Knockdown of SIRT1 by its inhibitor or siRNA results in Tat-mediated reduction of phosphorylation of AMP-activated protein kinase (AMPK) and downstream acetyl-CoA carboxylase (ACC)
More...

AA Sequence

MGSAVMDTKKKKDVSSPGGSGGKKNASQKRRSLRVHIPDLSSFAMPLLDGDLEGSGKHSSRKVDSPFGPG      1 - 70
SPSKGFFSRGPQPRPSSPMSAPVRPKTSPGSPKTVFPFSYQESPPRSPRRMSFSGIFRSSSKESSPNSNP     71 - 140
ATSPGGIRFFSRSRKTSGLSSSPSTPTQVTKQHTFPLESYKHEPERLENRIYASSSPPDTGQRFCPSSFQ    141 - 210
SPTRPPLASPTHYAPSKAAALAAALGPAEAGMLEKLEFEDEAVEDSESGVYMRFMRSHKCYDIVPTSSKL    211 - 280
VVFDTTLQVKKAFFALVANGVRAAPLWESKKQSFVGMLTITDFINILHRYYKSPMVQIYELEEHKIETWR    281 - 350
ELYLQETFKPLVNISPDASLFDAVYSLIKNKIHRLPVIDPISGNALYILTHKRILKFLQLFMSDMPKPAF    351 - 420
MKQNLDELGIGTYHNIAFIHPDTPIIKALNIFVERRISALPVVDESGKVVDIYSKFDVINLAAEKTYNNL    421 - 490
DITVTQALQHRSQYFEGVVKCNKLEILETIVDRIVRAEVHRLVVVNEADSIVGIISLSDILQALILTPAG    491 - 560
AKQKETETE                                                                 561 - 569
//

Text Mined References (93)

PMID Year Title
26496977 2015 Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutations.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23992123 2014 Overexpression of G100S mutation in PRKAG2 causes Wolff-Parkinson-White syndrome in zebrafish.
23810891 2013 Cardiac hypertrophy, accessory pathway, and conduction system disease in an adolescent: the PRKAG2 cardiac syndrome.
23778007 2013 Identification and functional analysis of a novel PRKAG2 mutation responsible for Chinese PRKAG2 cardiac syndrome reveal an important role of non-CBS domains in regulating the AMPK pathway.
23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
23222517 2012 Seventy-five genetic loci influencing the human red blood cell.
23115293 2013 AMP-activated protein kinase is required for the macropinocytic internalization of ebolavirus.
23034890 2013 Germline variation in TP53 regulatory network genes associates with breast cancer survival and treatment outcome.
22897928 2012 Over-expressions of AMPK subunits in ovarian carcinomas with significant clinical implications.
More...