Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PRKAG2 Gene

Aliases for PRKAG2 Gene

  • Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2 2 3
  • Protein Kinase, AMP-Activated, Gamma 2 Non-Catalytic Subunit 2 3 5
  • AMPK Subunit Gamma-2 3 4
  • AMPK Gamma2 2 4
  • H91620p 3 4
  • AAKG2 3
  • AAKG 3
  • CMH6 3
  • WPWS 3

External Ids for PRKAG2 Gene

Previous GeneCards Identifiers for PRKAG2 Gene

  • GC07M149499
  • GC07M150568
  • GC07M150645
  • GC07M150690
  • GC07M150884
  • GC07M151253
  • GC07M145065

Summaries for PRKAG2 Gene

Entrez Gene Summary for PRKAG2 Gene

  • AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family. Mutations in this gene have been associated with Wolff-Parkinson-White syndrome, familial hypertrophic cardiomyopathy, and glycogen storage disease of the heart. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2015]

GeneCards Summary for PRKAG2 Gene

PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2) is a Protein Coding gene. Diseases associated with PRKAG2 include Wolff-Parkinson-White Syndrome and Glycogen Storage Disease Of Heart, Lethal Congenital. Among its related pathways are p53 Pathway (RnD) and Glucose / Energy Metabolism. GO annotations related to this gene include protein kinase binding and protein kinase activator activity. An important paralog of this gene is PRKAG3.

UniProtKB/Swiss-Prot for PRKAG2 Gene

  • AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. Gamma non-catalytic subunit mediates binding to AMP, ADP and ATP, leading to activate or inhibit AMPK: AMP-binding results in allosteric activation of alpha catalytic subunit (PRKAA1 or PRKAA2) both by inducing phosphorylation and preventing dephosphorylation of catalytic subunits. ADP also stimulates phosphorylation, without stimulating already phosphorylated catalytic subunit. ATP promotes dephosphorylation of catalytic subunit, rendering the AMPK enzyme inactive.

Gene Wiki entry for PRKAG2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRKAG2 Gene

Genomics for PRKAG2 Gene

Regulatory Elements for PRKAG2 Gene

Enhancers for PRKAG2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PRKAG2 on UCSC Golden Path with GeneCards custom track

Promoters for PRKAG2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PRKAG2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PRKAG2 Gene

Chromosome:
7
Start:
151,556,111 bp from pter
End:
151,877,231 bp from pter
Size:
321,121 bases
Orientation:
Minus strand

Genomic View for PRKAG2 Gene

Genes around PRKAG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRKAG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRKAG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRKAG2 Gene

Proteins for PRKAG2 Gene

  • Protein details for PRKAG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UGJ0-AAKG2_HUMAN
    Recommended name:
    5-AMP-activated protein kinase subunit gamma-2
    Protein Accession:
    Q9UGJ0
    Secondary Accessions:
    • Q53Y07
    • Q6NUI0
    • Q75MP4
    • Q9NUZ9
    • Q9UDN8
    • Q9ULX8

    Protein attributes for PRKAG2 Gene

    Size:
    569 amino acids
    Molecular mass:
    63066 Da
    Quaternary structure:
    • AMPK is a heterotrimer of an alpha catalytic subunit (PRKAA1 or PRKAA2), a beta (PRKAB1 or PRKAB2) and a gamma non-catalytic subunits (PRKAG1, PRKAG2 or PRKAG3). Interacts with FNIP1 and FNIP2.
    SequenceCaution:
    • Sequence=AAH20540.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAS02032.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAA84695.1; Type=Frameshift; Positions=228, 233; Note=Frameshifts are upstream of the initiating Met of isoform B.; Evidence={ECO:0000305};

    Alternative splice isoforms for PRKAG2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRKAG2 Gene

Proteomics data for PRKAG2 Gene at MOPED

Post-translational modifications for PRKAG2 Gene

  • Phosphorylated by ULK1; leading to negatively regulate AMPK activity and suggesting the existence of a regulatory feedback loop between ULK1 and AMPK.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PRKAG2 Gene

Domains & Families for PRKAG2 Gene

Protein Domains for PRKAG2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PRKAG2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UGJ0

UniProtKB/Swiss-Prot:

AAKG2_HUMAN :
  • The AMPK pseudosubstrate motif resembles the sequence around sites phosphorylated on target proteins of AMPK, except the presence of a non-phosphorylatable residue in place of Ser. In the absence of AMP this pseudosubstrate sequence may bind to the active site groove on the alpha subunit (PRKAA1 or PRKAA2), preventing phosphorylation by the upstream activating kinase STK11/LKB1.
  • Belongs to the 5-AMP-activated protein kinase gamma subunit family.
Domain:
  • The AMPK pseudosubstrate motif resembles the sequence around sites phosphorylated on target proteins of AMPK, except the presence of a non-phosphorylatable residue in place of Ser. In the absence of AMP this pseudosubstrate sequence may bind to the active site groove on the alpha subunit (PRKAA1 or PRKAA2), preventing phosphorylation by the upstream activating kinase STK11/LKB1.
  • The CBS domains mediate binding to AMP, ADP and ATP. 2 sites bind either AMP or ATP, whereas a third site contains a tightly bound AMP that does not exchange. Under physiological conditions AMPK mainly exists in its inactive form in complex with ATP, which is much more abundant than AMP.
  • Contains 4 CBS domains.
Family:
  • Belongs to the 5-AMP-activated protein kinase gamma subunit family.
genes like me logo Genes that share domains with PRKAG2: view

Function for PRKAG2 Gene

Molecular function for PRKAG2 Gene

GENATLAS Biochemistry:
protein kinase,cAMP activated,gamma 2 non catalytic subunit,involved in fatty acid and cholesterol metabolism
UniProtKB/Swiss-Prot Function:
AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. Gamma non-catalytic subunit mediates binding to AMP, ADP and ATP, leading to activate or inhibit AMPK: AMP-binding results in allosteric activation of alpha catalytic subunit (PRKAA1 or PRKAA2) both by inducing phosphorylation and preventing dephosphorylation of catalytic subunits. ADP also stimulates phosphorylation, without stimulating already phosphorylated catalytic subunit. ATP promotes dephosphorylation of catalytic subunit, rendering the AMPK enzyme inactive.

Gene Ontology (GO) - Molecular Function for PRKAG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016208 AMP binding IEA --
GO:0019901 protein kinase binding IDA 10698692
genes like me logo Genes that share ontologies with PRKAG2: view
genes like me logo Genes that share phenotypes with PRKAG2: view

Human Phenotype Ontology for PRKAG2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for PRKAG2

miRNA for PRKAG2 Gene

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for PRKAG2 Gene

Localization for PRKAG2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PRKAG2 Gene COMPARTMENTS Subcellular localization image for PRKAG2 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
golgi apparatus 2
lysosome 1
mitochondrion 1
peroxisome 1
plasma membrane 1
vacuole 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PRKAG2 Gene

Pathways & Interactions for PRKAG2 Gene

genes like me logo Genes that share pathways with PRKAG2: view

Pathways by source for PRKAG2 Gene

Gene Ontology (GO) - Biological Process for PRKAG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006110 regulation of glycolytic process IMP 15877279
GO:0006112 energy reserve metabolic process TAS --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0006468 protein phosphorylation IEA --
GO:0006633 fatty acid biosynthetic process IEA --
genes like me logo Genes that share ontologies with PRKAG2: view

No data available for SIGNOR curated interactions for PRKAG2 Gene

Drugs & Compounds for PRKAG2 Gene

(1) Drugs for PRKAG2 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspirin Approved Pharma Channel blocker, Target, activator 1059

(2) Additional Compounds for PRKAG2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PRKAG2: view

Transcripts for PRKAG2 Gene

Unigene Clusters for PRKAG2 Gene

Protein kinase, AMP-activated, gamma 2 non-catalytic subunit:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PRKAG2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^
SP1: - - - - - - - - - - -
SP2: - - - - - - - -
SP3: - - -
SP4: - - -
SP5: - -
SP6: - -
SP7: -
SP8: - - - - -
SP9:
SP10: -
SP11: -
SP12:
SP13:

ExUns: 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23a · 23b
SP1: - - -
SP2: - - -
SP3: - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for PRKAG2 Gene

GeneLoc Exon Structure for
PRKAG2
ECgene alternative splicing isoforms for
PRKAG2

Expression for PRKAG2 Gene

mRNA expression in normal human tissues for PRKAG2 Gene

mRNA differential expression in normal tissues according to GTEx for PRKAG2 Gene

This gene is overexpressed in Heart - Atrial Appendage (x5.7).

Protein differential expression in normal tissues from HIPED for PRKAG2 Gene

This gene is overexpressed in Bone (8.2), Frontal cortex (7.3), Peripheral blood mononuclear cells (6.7), and Prostate (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PRKAG2 Gene



SOURCE GeneReport for Unigene cluster for PRKAG2 Gene Hs.647072

mRNA Expression by UniProt/SwissProt for PRKAG2 Gene

Q9UGJ0-AAKG2_HUMAN
Tissue specificity: Isoform B is ubiquitously expressed except in liver and thymus. The highest level is detected in heart with abundant expression in placenta and testis.
genes like me logo Genes that share expression patterns with PRKAG2: view

Protein tissue co-expression partners for PRKAG2 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for PRKAG2 Gene

Orthologs for PRKAG2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PRKAG2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PRKAG2 35
  • 86.79 (n)
  • 89.62 (a)
PRKAG2 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRKAG2 35
  • 89.34 (n)
  • 92.79 (a)
PRKAG2 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prkag2 35
  • 89.52 (n)
  • 93.99 (a)
Prkag2 16
Prkag2 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PRKAG2 35
  • 99.77 (n)
  • 100 (a)
PRKAG2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prkag2 35
  • 92.02 (n)
  • 98.47 (a)
oppossum
(Monodelphis domestica)
Mammalia PRKAG2 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRKAG2 36
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves PRKAG2 35
  • 80.46 (n)
  • 85.44 (a)
PRKAG2 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRKAG2 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prkag1 35
  • 82.11 (n)
  • 91.77 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68503 35
zebrafish
(Danio rerio)
Actinopterygii Dr.14353 35
prkag2b 35
  • 67.24 (n)
  • 70.15 (a)
prkag2a 36
  • 76 (a)
OneToMany
prkag2b 36
  • 69 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta SNF4Agamma 37
  • 62 (a)
SNF4Agamma 36
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T20F7.6 37
  • 38 (a)
Y111B2A.8 37
  • 55 (a)
Y41G9A.3 37
  • 31 (a)
aakg-1 36
  • 34 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SNF4 36
  • 34 (a)
OneToMany
SNF4 38
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7193 36
  • 50 (a)
OneToMany
Species with no ortholog for PRKAG2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PRKAG2 Gene

ENSEMBL:
Gene Tree for PRKAG2 (if available)
TreeFam:
Gene Tree for PRKAG2 (if available)

Paralogs for PRKAG2 Gene

Paralogs for PRKAG2 Gene

(3) SIMAP similar genes for PRKAG2 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with PRKAG2: view

Variants for PRKAG2 Gene

Sequence variations from dbSNP and Humsavar for PRKAG2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_013264 Cardiomyopathy, familial hypertrophic 6 (CMH6)
VAR_013264 Wolff-Parkinson-White syndrome (WPWS)
VAR_013266 Cardiomyopathy, familial hypertrophic 6 (CMH6)
rs28938173 Cardiomyopathy, familial hypertrophic 6 (CMH6) 151,568,750(-) ACTTA(A/C)CCACA reference, missense
VAR_013268 Cardiomyopathy, familial hypertrophic 6 (CMH6)

Structural Variations from Database of Genomic Variants (DGV) for PRKAG2 Gene

Variant ID Type Subtype PubMed ID
nsv831189 CNV Gain 17160897
nsv831190 CNV Gain 17160897
esv2735403 CNV Deletion 23290073
esv2153242 CNV Deletion 18987734
esv2665751 CNV Deletion 23128226
esv2735404 CNV Deletion 23290073
dgv1175e201 CNV Deletion 23290073
esv2735407 CNV Deletion 23290073
nsv465218 CNV Loss 19166990
nsv889490 CNV Loss 21882294
nsv465219 CNV Loss 19166990
nsv520072 CNV Loss 19592680
nsv470398 CNV Loss 18288195
nsv889491 CNV Loss 21882294
esv2735409 CNV Deletion 23290073
esv2735410 CNV Deletion 23290073
esv275366 CNV Loss 21479260
esv2735411 CNV Deletion 23290073
esv2735412 CNV Deletion 23290073
esv2080091 CNV Deletion 18987734
esv34045 CNV Loss 18971310
nsv465220 CNV Loss 19166990
nsv465221 CNV Loss 19166990
esv2735413 CNV Deletion 23290073
esv4521 CNV Deletion 18987735
esv2735414 CNV Deletion 23290073
esv1001094 CNV Deletion 20482838
esv259533 OTHER Complex 20981092
esv259998 OTHER Complex 20981092
nsv366572 CNV Insertion 16902084
esv1048498 CNV Insertion 17803354
dgv437n21 CNV Loss 19592680
esv2661087 CNV Deletion 23128226
nsv889492 CNV Loss 21882294
esv2735415 CNV Deletion 23290073
esv2735416 CNV Deletion 23290073
esv2735418 CNV Deletion 23290073
esv2677515 CNV Deletion 23128226
nsv465222 CNV Loss 19166990
nsv889493 CNV Loss 21882294
esv2735419 CNV Deletion 23290073
esv4058 CNV Deletion 18987735
esv2735420 CNV Deletion 23290073
dgv1176e201 CNV Deletion 23290073
nsv365974 CNV Loss 16902084
dgv1177e201 CNV Deletion 23290073
esv2735425 CNV Deletion 23290073
esv2735426 CNV Deletion 23290073
nsv366635 CNV Loss 16902084
nsv889494 CNV Gain 21882294
esv2735427 CNV Deletion 23290073
esv2735429 CNV Deletion 23290073

Variation tolerance for PRKAG2 Gene

Residual Variation Intolerance Score: 41.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.82; 58.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRKAG2 Gene

Human Gene Mutation Database (HGMD)
PRKAG2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRKAG2 Gene

Disorders for PRKAG2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for PRKAG2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
wolff-parkinson-white syndrome
  • anomalous a-v excitation
glycogen storage disease of heart, lethal congenital
  • lethal congenital glycogen storage disease of the heart
cardiomyopathy, hypertrophic 6
  • cardiomyopathy, familial hypertrophic 6
fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
  • fatal congenital hypertrophic cardiomyopathy due to gsd
familial hypertrophic cardiomyopathy with wolff-parkinson-white syndrome, prkag2-related
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AAKG2_HUMAN
  • Cardiomyopathy, familial hypertrophic 6 (CMH6) [MIM:600858]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH6 patients present Wolff-Parkinson-White ventricular preexcitation, enlarged myocytes without myofiber disarray, and glycogen-containing cytosolic vacuoles within cardiomyocytes. {ECO:0000269 PubMed:11371514, ECO:0000269 PubMed:11827995}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]: Rare disease which leads to death within a few weeks to a few months after birth, through heart failure and respiratory compromise. {ECO:0000269 PubMed:15877279}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]: A supernormal conduction disorder characterized by the presence of one or several accessory atrioventricular connections, which can lead to episodes of sporadic tachycardia. {ECO:0000269 PubMed:11407343, ECO:0000269 PubMed:11748095}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PRKAG2

Genetic Association Database (GAD)
PRKAG2
Human Genome Epidemiology (HuGE) Navigator
PRKAG2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRKAG2
genes like me logo Genes that share disorders with PRKAG2: view

No data available for Genatlas for PRKAG2 Gene

Publications for PRKAG2 Gene

  1. Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. (PMID: 15877279) Burwinkel B. … Kilimann M.W. (Am. J. Hum. Genet. 2005) 3 4 23 67
  2. Activation of cardiac hypertrophic signaling pathways in a transgenic mouse with the human PRKAG2 Thr400Asn mutation. (PMID: 20005292) Banerjee S.K. … Ahmad F. (Biochim. Biophys. Acta 2010) 3 23
  3. Identification of two novel variants in PRKAG2 gene in Tunisian type 2 diabetic patients with family history of cardiovascular disease. (PMID: 20022652) Nouira S. … Abdelhak S. (Diabetes Res. Clin. Pract. 2010) 3 23
  4. New loci associated with kidney function and chronic kidney disease. (PMID: 20383146) KAPttgen A. … Fox C.S. (Nat. Genet. 2010) 3 23
  5. Molecular analysis of PRKAG2, LAMP2, and NKX2-5 genes in a cohort of 125 patients with accessory atrioventricular connection. (PMID: 19533775) Esposito G. … Dallapiccola B. (Am. J. Med. Genet. A 2009) 3 23

Products for PRKAG2 Gene

Sources for PRKAG2 Gene

Content