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Aliases for PRKAG2 Gene

Aliases for PRKAG2 Gene

  • Protein Kinase, AMP-Activated, Gamma 2 Non-Catalytic Subunit 2 3
  • AMPK Subunit Gamma-2 3 4
  • AMPK Gamma2 2 4
  • H91620p 3 4
  • CMH6 3 6
  • WPWS 3 6
  • 5-AMP-Activated Protein Kinase Subunit Gamma-2 3
  • Hypothetical Protein 3
  • AAKG2 3
  • AAKG 3

External Ids for PRKAG2 Gene

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, Gamma 2 Non-Catalytic Subunit) is a Protein Coding gene. Diseases associated with PRKAG2 include glycogen storage disease of heart, lethal congenital and cardiomyopathy, familial hypertrophic 6. Among its related pathways are Signaling by GPCR and Insulin receptor signalling cascade. GO annotations related to this gene include protein kinase binding and cAMP-dependent protein kinase regulator 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

Genomic Location for PRKAG2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PRKAG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRKAG2 Gene

Regulatory Elements 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 for PRKAG2 Gene

Protein Domains for PRKAG2 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

AAKG2_HUMAN
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:
    • Q9UGJ0
  • 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:
    • Q9UGJ0
  • Contains 4 CBS domains.:
    • Q9UGJ0
Family:
  • Belongs to the 5-AMP-activated protein kinase gamma subunit family.:
    • Q9UGJ0
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:0004679 AMP-activated protein kinase activity IEA --
GO:0004862 cAMP-dependent protein kinase inhibitor activity IDA 17255938
GO:0005524 ATP binding IDA 15877279
GO:0008603 cAMP-dependent protein kinase regulator activity IMP 15877279
GO:0008607 phosphorylase kinase regulator activity IMP 15877279
genes like me logo Genes that share ontologies with PRKAG2: view

Phenotypes for PRKAG2 Gene

GenomeRNAi human phenotypes for PRKAG2:
genes like me logo Genes that share phenotypes with PRKAG2: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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 4
nucleus 4
lysosome 1
mitochondrion 1
peroxisome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PRKAG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol TAS --
GO:0031588 AMP-activated protein kinase complex IDA 15877279
genes like me logo Genes that share ontologies with PRKAG2: view

Pathways for PRKAG2 Gene

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

Pathways by source for PRKAG2 Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for PRKAG2 Gene
1 Tocris pathway for PRKAG2 Gene
1 Cell Signaling Technology pathway for PRKAG2 Gene

Gene Ontology (GO) - Biological Process for PRKAG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005977 glycogen metabolic process IMP 11827995
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 --
genes like me logo Genes that share ontologies with PRKAG2: view

Compounds for PRKAG2 Gene

(2) Novoseek inferred chemical compound relationships for PRKAG2 Gene

Compound -log(P) Hits PubMed IDs
glycogen 72.2 18
sodium 0 1
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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Heart - Atrial Appendage (5.7).

Integrated Proteomics: protein expression 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 expressions with PRKAG2: view

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
chimpanzee
(Pan troglodytes)
Mammalia PRKAG2 36
  • 99.77 (n)
  • 100 (a)
PRKAG2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PRKAG2 36
  • 86.79 (n)
  • 89.62 (a)
PRKAG2 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRKAG2 36
  • 89.34 (n)
  • 92.79 (a)
PRKAG2 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prkag2 36
  • 89.52 (n)
  • 93.99 (a)
Prkag2 16
Prkag2 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PRKAG2 37
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRKAG2 37
  • 62 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prkag2 36
  • 92.02 (n)
  • 98.47 (a)
chicken
(Gallus gallus)
Aves PRKAG2 36
  • 80.46 (n)
  • 85.44 (a)
PRKAG2 37
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRKAG2 37
  • 91 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68503 36
tropical clawed frog
(Silurana tropicalis)
Amphibia prkag1 36
  • 82.11 (n)
  • 91.77 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.14353 36
prkag2a 37
  • 76 (a)
OneToMany
prkag2b 36
  • 67.24 (n)
  • 70.15 (a)
prkag2b 37
  • 69 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta SNF4Agamma 37
  • 19 (a)
OneToMany
SNF4Agamma 38
  • 62 (a)
worm
(Caenorhabditis elegans)
Secernentea aakg-1 37
  • 34 (a)
OneToMany
Y41G9A.3 38
  • 31 (a)
Y111B2A.8 38
  • 55 (a)
T20F7.6 38
  • 38 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SNF4 37
  • 34 (a)
OneToMany
SNF4 39
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7193 37
  • 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

Selected 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 MAF
rs7429 -- 151,556,140(+) AGGAT(C/T)TATTT utr-variant-3-prime
rs8961 -- 151,557,089(+) CCTAT(C/T)GTTAA utr-variant-3-prime
rs15161 -- 151,857,089(+) CTAAG(A/G)CCCAN intron-variant
rs15162 -- 151,856,947(+) GNNAA(C/T)GGTGA intron-variant
rs15164 -- 151,856,919(+) AACGG(A/G)GCAGA intron-variant

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

Relevant External Links for PRKAG2 Gene

HapMap Linkage Disequilibrium report
PRKAG2
Human Gene Mutation Database (HGMD)
PRKAG2

Disorders for PRKAG2 Gene

(3) OMIM Diseases for PRKAG2 Gene (602743)

UniProtKB/Swiss-Prot

AAKG2_HUMAN
  • 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.
  • 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.

(14) Novoseek inferred disease relationships for PRKAG2 Gene

Disease -log(P) Hits PubMed IDs
wolff-parkinson-white syndrome 88.6 19
ventricular pre-excitation 86.9 6
danon disease 84.7 2
glycogen storage disease 83.4 11
cardiac hypertrophy 77.3 16

Relevant External Links for PRKAG2

Genetic Association Database (GAD)
PRKAG2
Human Genome Epidemiology (HuGE) Navigator
PRKAG2
genes like me logo Genes that share disorders with PRKAG2: view

Publications for PRKAG2 Gene

  1. Molecular cloning, genomic organization, and mapping of PRKAG2, a heart abundant gamma-2 subunit of 5'-AMP-activated protein kinase, to human chromosome 7q36. (PMID: 11112354) Lang T.M. … Zhao S. (Genomics 2000) 3 4 23
  2. Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. (PMID: 11371514) Blair E. … Watkins H. (Hum. Mol. Genet. 2001) 3 4 23
  3. Identification of a gene responsible for familial Wolff-Parkinson- White syndrome. (PMID: 11407343) Gollob M.H. … Roberts R. (N. Engl. J. Med. 2001) 3 4 23
  4. Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy. (PMID: 11748095) Gollob M.H. … Roberts R. (Circulation 2001) 3 4 23
  5. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. (PMID: 11827995) Arad M. … Seidman C.E. (J. Clin. Invest. 2002) 3 4 23

Products for PRKAG2 Gene

  • antibodies-online proteins for PRKAG2
  • antibodies-online antibodies for PRKAG2
  • antibodies-online kits for PRKAG2

Sources for PRKAG2 Gene

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