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Aliases for PRKAG2 Gene

Aliases for PRKAG2 Gene

  • Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2 2 3 5
  • Protein Kinase, AMP-Activated, Gamma 2 Non-Catalytic Subunit 2 3
  • AMPK Subunit Gamma-2 3 4
  • AMPK Gamma2 2 4
  • H91620p 3 4
  • 5-AMP-Activated Protein Kinase Subunit Gamma-2 3
  • 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 Glycogen Storage Disease Of Heart, Lethal Congenital and Wolff-Parkinson-White Syndrome. Among its related pathways are RET signaling and Regulation of TP53 Activity. GO annotations related to this gene include protein kinase binding and protein kinase activator activity. An important paralog of this gene is PRKAG1.

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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G151795 1.9 FANTOM5 Ensembl ENCODE dbSUPER 28 +79.8 79804 3.3 PKNOX1 FOXA2 SIN3A KLF17 FEZF1 RAD21 YY1 ZSCAN5C SMARCC2 FOS PRKAG2 PRKAG2-AS1 LOC644090 FABP5P3 RHEB GC07M151742
GH07G151752 2.5 VISTA FANTOM5 Ensembl ENCODE dbSUPER 18.8 +120.8 120826 7.2 SIN3A ZNF2 YY1 ZNF143 FOS DEK REST KAT8 ZNF579 SSRP1 PRKAG2 LOC644090 AOC1 SMARCD3 RHEB GC07P151760 GC07M151708 PIR46081
GH07G151837 1.6 FANTOM5 Ensembl ENCODE dbSUPER 28.9 +38.4 38386 3.1 MAX YBX1 ZFHX2 ZNF366 PRDM10 EZH2 EGR2 RFX1 MTA2 RNF2 PRKAG2 PRKAG2-AS1 LOC644090 GALNTL5 LOC105375570 RNU6-604P GC07M151797 GC07M151865
GH07G151800 1.9 FANTOM5 Ensembl ENCODE dbSUPER 21.5 +70.8 70815 11.0 HDGF FOXA2 PKNOX1 ARNT ARID4B SIN3A ZNF2 YY1 FOS ZNF263 PRKAG2 LOC644090 TMUB1 LINC01003 GC07M151797
GH07G151931 1.7 FANTOM5 Ensembl ENCODE dbSUPER 23.2 -55.4 -55402 1.7 PKNOX1 SIN3A NFXL1 BMI1 RAD21 ZNF155 ZNF366 SMARCA5 ZNF654 ZNF362 PRKAG2 LOC105375570 GALNTL5 RNU6-604P LOC644090 ENSG00000244151 RHEB ENSG00000222941
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000219921 631 2401 PKNOX1 ARNT SIN3A ZNF2 YY1 ZNF121 GLIS2 ELK1 KLF7 ZNF263

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

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 4 CBS domains mediate binding to nucleotides. Of the 4 potential nucleotide-binding sites, 3 are occupied, designated as sites 1, 3, and 4 based on the CBS modules that provide the acidic residue for coordination with the 2- and 3-hydroxyl groups of the ribose of AMP. Of these, site 4 appears to be a structural site that retains a tightly held AMP molecule (AMP 3). The 2 remaining sites, 1 and 3, can bind either AMP, ADP or ATP. Site 1 (AMP, ADP or ATP 1) is the high-affinity binding site and likely accommodates AMP or ADP. Site 3 (AMP, ADP or ATP 2) is the weakest nucleotide-binding site on the gamma subunit, yet it is exquisitely sensitive to changes in nucleotide levels and this allows AMPK to respond rapidly to changes in cellular energy status. Site 3 is likely to be responsible for protection of a conserved threonine in the activation loop of the alpha catalytic subunit through conformational changes induced by binding of AMP or ADP.
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: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
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

CRISPR Products

miRNA for PRKAG2 Gene

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRKAG2 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
golgi apparatus 2
plasma membrane 1
mitochondrion 1
peroxisome 1
lysosome 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 nucleotide-activated protein kinase complex IDA 15877279
genes like me logo Genes that share ontologies with PRKAG2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PRKAG2 Gene

Pathways & Interactions for PRKAG2 Gene

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

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:0006468 protein phosphorylation IEA --
GO:0006469 negative regulation of protein kinase activity IDA 17255938
GO:0006629 lipid metabolic 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

(12) Drugs for PRKAG2 Gene - From: DrugBank and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspirin Approved, Vet_approved Pharma Channel blocker, Target, activator 1152
AICAR phosphate Pharma AMPK activator 0
Dorsomorphin Pharma AMPK inhibitor 0
GSK621 Pharma AMPK agonist 0
Imeglimin Pharma Antidiabetic agent 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(11) ApexBio Compounds for PRKAG2 Gene

Compound Action Cas Number
AICAR phosphate AMPK activator 681006-28-0
Dorsomorphin AMPK inhibitor 866405-64-3
GSK621 AMPK agonist 1346607-05-3
Imeglimin Antidiabetic agent 775351-65-0
Imeglimin hydrochloride Antidiabetic agent 775351-61-6
PT 1 AMPK activator, selective 331002-70-1
RSVA 405 140405-36-3
SAMS Peptide 125911-68-4
YLF-466D 1273323-67-3
ZLN024 723249-01-2
ZLN024 hydrochloride
genes like me logo Genes that share compounds with PRKAG2: view

Drug Products

Transcripts for PRKAG2 Gene

Unigene Clusters for PRKAG2 Gene

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

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PRKAG2 Gene



Protein tissue co-expression partners for PRKAG2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PRKAG2 Gene:

PRKAG2

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.

Evidence on tissue expression from TISSUES for PRKAG2 Gene

  • Nervous system(4.9)
  • Liver(4.2)
  • Heart(3)
  • Muscle(3)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRKAG2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with PRKAG2: view

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
chimpanzee
(Pan troglodytes)
Mammalia PRKAG2 34 35
  • 99.77 (n)
rat
(Rattus norvegicus)
Mammalia Prkag2 34
  • 92.02 (n)
mouse
(Mus musculus)
Mammalia Prkag2 34 16 35
  • 89.52 (n)
dog
(Canis familiaris)
Mammalia PRKAG2 34 35
  • 89.34 (n)
cow
(Bos Taurus)
Mammalia PRKAG2 34 35
  • 86.79 (n)
oppossum
(Monodelphis domestica)
Mammalia PRKAG2 35
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRKAG2 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves PRKAG2 34 35
  • 80.46 (n)
lizard
(Anolis carolinensis)
Reptilia PRKAG2 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prkag1 34
  • 82.11 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68503 34
zebrafish
(Danio rerio)
Actinopterygii prkag2a 35
  • 76 (a)
OneToMany
prkag2b 34 35
  • 67.24 (n)
Dr.14353 34
fruit fly
(Drosophila melanogaster)
Insecta SNF4Agamma 36 35
  • 62 (a)
worm
(Caenorhabditis elegans)
Secernentea Y111B2A.8 36
  • 55 (a)
T20F7.6 36
  • 38 (a)
aakg-1 35
  • 34 (a)
OneToMany
Y41G9A.3 36
  • 31 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SNF4 35 37
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7193 35
  • 50 (a)
OneToMany
Species where no ortholog for PRKAG2 was found in the sources mined by GeneCards:
  • 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
rs121908987 Pathogenic, Cardiomyopathy, familial hypertrophic 6 (CMH6) [MIM:600858], Wolff-Parkinson-White syndrome (WPWS) [MIM:194200] 151,576,412(-) TGTCC(A/G/T)AGCAG reference, missense
rs121908988 Pathogenic, Cardiomyopathy, familial hypertrophic 6 (CMH6) [MIM:600858] 151,568,801(-) AATCC(A/G)CAGAT reference, missense
rs121908989 Pathogenic, Cardiomyopathy, familial hypertrophic 6 (CMH6) [MIM:600858] 151,564,199(-) ATACA(A/T)TAACC reference, missense
rs121908990 Pathogenic, Wolff-Parkinson-White syndrome (WPWS) [MIM:194200] 151,560,611(-) TCCAT(C/G/T)GGCTG reference, missense
rs121908991 Pathogenic, Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740] 151,560,610(-) CCATC(A/G/T)GCTGG reference, missense

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

Variant ID Type Subtype PubMed ID
dgv1127e201 CNV deletion 23290073
dgv1128e201 CNV deletion 23290073
dgv1129e201 CNV deletion 23290073
dgv11728n54 CNV loss 21841781
dgv1337e214 CNV loss 21293372
dgv3695n106 OTHER inversion 24896259
dgv3994e59 CNV tandem duplication 20981092
dgv437n21 CNV loss 19592680
esv1001094 CNV deletion 20482838
esv1048498 CNV insertion 17803354
esv2080091 CNV deletion 18987734
esv2153242 CNV deletion 18987734
esv2661087 CNV deletion 23128226
esv2665751 CNV deletion 23128226
esv2677515 CNV deletion 23128226
esv2735403 CNV deletion 23290073
esv2735404 CNV deletion 23290073
esv2735407 CNV deletion 23290073
esv2735409 CNV deletion 23290073
esv2735410 CNV deletion 23290073
esv2735411 CNV deletion 23290073
esv2735412 CNV deletion 23290073
esv2735413 CNV deletion 23290073
esv2735414 CNV deletion 23290073
esv2735415 CNV deletion 23290073
esv2735416 CNV deletion 23290073
esv2735418 CNV deletion 23290073
esv2735419 CNV deletion 23290073
esv2735420 CNV deletion 23290073
esv2735425 CNV deletion 23290073
esv2735426 CNV deletion 23290073
esv2735427 CNV deletion 23290073
esv2735429 CNV deletion 23290073
esv275366 CNV loss 21479260
esv3352592 CNV duplication 20981092
esv34045 CNV loss 18971310
esv3407966 CNV duplication 20981092
esv3440890 CNV duplication 20981092
esv3448439 CNV duplication 20981092
esv3542661 CNV deletion 23714750
esv3542665 CNV deletion 23714750
esv3542667 CNV deletion 23714750
esv3615484 CNV loss 21293372
esv3615486 CNV gain 21293372
esv3615488 CNV loss 21293372
esv3615489 CNV loss 21293372
esv3615490 CNV loss 21293372
esv3615491 CNV loss 21293372
esv3891236 CNV gain 25118596
esv3891238 CNV loss 25118596
esv4058 CNV loss 18987735
esv4521 CNV loss 18987735
nsv1027917 CNV loss 25217958
nsv1067934 OTHER inversion 25765185
nsv1109924 CNV deletion 24896259
nsv1117770 CNV deletion 24896259
nsv1120923 CNV deletion 24896259
nsv1121391 CNV deletion 24896259
nsv1129790 CNV tandem duplication 24896259
nsv1142505 CNV tandem duplication 24896259
nsv1151906 OTHER inversion 26484159
nsv1153040 CNV deletion 26484159
nsv1153657 CNV duplication 26484159
nsv365974 CNV deletion 16902084
nsv366572 CNV insertion 16902084
nsv366635 CNV deletion 16902084
nsv465218 CNV loss 19166990
nsv465219 CNV loss 19166990
nsv465220 CNV loss 19166990
nsv465221 CNV loss 19166990
nsv465222 CNV loss 19166990
nsv470398 CNV loss 18288195
nsv472734 CNV novel sequence insertion 20440878
nsv473751 CNV novel sequence insertion 20440878
nsv476101 CNV novel sequence insertion 20440878
nsv479198 CNV novel sequence insertion 20440878
nsv520072 CNV loss 19592680
nsv609039 CNV loss 21841781
nsv609040 CNV loss 21841781
nsv609041 CNV gain 21841781
nsv609042 CNV loss 21841781
nsv609043 CNV loss 21841781
nsv831189 CNV gain 17160897
nsv831190 CNV gain 17160897
nsv958428 CNV deletion 24416366

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRKAG2

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

Disorders for PRKAG2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
glycogen storage disease of heart, lethal congenital
  • lethal congenital glycogen storage disease of the heart
wolff-parkinson-white syndrome
  • anomalous a-v excitation
cardiomyopathy, hypertrophic 6
  • hypertrophic cardiomyopathy 6
familial hypertrophic cardiomyopathy with wolff-parkinson-white syndrome, prkag2-related
danon disease
  • antopol disease
- 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, ECO:0000269 PubMed:14722619}. 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. 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 22 46 64
  2. New loci associated with kidney function and chronic kidney disease. (PMID: 20383146) KAPttgen A. … Fox C.S. (Nat. Genet. 2010) 3 22 46 64
  3. Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. (PMID: 20031618) Kaski J.P. … Elliott P.M. (Circ Cardiovasc Genet 2009) 3 22 46 64
  4. Shared genetic causes of cardiac hypertrophy in children and adults. (PMID: 18403758) Morita H. … Seidman C.E. (N. Engl. J. Med. 2008) 3 22 46 64
  5. 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 22 64

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