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Aliases for PHKG2 Gene

Aliases for PHKG2 Gene

  • Phosphorylase Kinase, Gamma 2 (Testis) 2 3
  • Phosphorylase Kinase Subunit Gamma-2 3 4
  • PHK-Gamma-LT 3 4
  • EC 2.7.11.19 4 63
  • PHK-Gamma-T 3 4
  • PSK-C3 3 4
  • GSD9C 3 6
  • Phosphorylase B Kinase Gamma Catalytic Chain, Liver/Testis Isoform 3
  • Phosphorylase B Kinase Gamma Catalytic Chain, Testis/Liver Isoform 3
  • Phosphorylase Kinase, Gamma 2 (Testis/Liver) 3
  • Serine/Threonine-Protein Kinase PHKG2 3
  • EC 2.7.11 63

External Ids for PHKG2 Gene

Previous GeneCards Identifiers for PHKG2 Gene

  • GC16P030042
  • GC16P031248
  • GC16P030756
  • GC16P030795
  • GC16P030667
  • GC16P030759
  • GC16P028322

Summaries for PHKG2 Gene

Entrez Gene Summary for PHKG2 Gene

  • Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]

GeneCards Summary for PHKG2 Gene

PHKG2 (Phosphorylase Kinase, Gamma 2 (Testis)) is a Protein Coding gene. Diseases associated with PHKG2 include glycogen storage disease ixc and phkg2-related phosphorylase kinase deficiency. Among its related pathways are Activation of cAMP-Dependent PKA and Activation of cAMP-Dependent PKA. GO annotations related to this gene include protein serine/threonine kinase activity and tau-protein kinase activity. An important paralog of this gene is PHKG1.

UniProtKB/Swiss-Prot for PHKG2 Gene

  • Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. May regulate glycogeneolysis in the testis. In vitro, phosphorylates PYGM (By similarity).

Gene Wiki entry for PHKG2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHKG2 Gene

Genomics for PHKG2 Gene

Regulatory Elements for PHKG2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PHKG2 Gene

Start:
30,748,253 bp from pter
End:
30,761,176 bp from pter
Size:
12,924 bases
Orientation:
Plus strand

Genomic View for PHKG2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PHKG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHKG2 Gene

Proteins for PHKG2 Gene

  • Protein details for PHKG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15735-PHKG2_HUMAN
    Recommended name:
    Phosphorylase b kinase gamma catalytic chain, liver/testis isoform
    Protein Accession:
    P15735
    Secondary Accessions:
    • A8K0C7
    • B4DEB7
    • E9PEU3
    • P11800

    Protein attributes for PHKG2 Gene

    Size:
    406 amino acids
    Molecular mass:
    46442 Da
    Quaternary structure:
    • Hexadecamer of 4 heterotetramers, each composed of alpha, beta, gamma, and delta subunits. Alpha (PHKA1 or PHKA2) and beta (PHKB) are regulatory subunits, gamma (PHKG1 or PHKG2) is the catalytic subunit, and delta is calmodulin.

    Three dimensional structures from OCA and Proteopedia for PHKG2 Gene

    Alternative splice isoforms for PHKG2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PHKG2 Gene

Proteomics data for PHKG2 Gene at MOPED

Post-translational modifications for PHKG2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PHKG2 Gene

Domains for PHKG2 Gene

Graphical View of Domain Structure for InterPro Entry

P15735

UniProtKB/Swiss-Prot:

PHKG2_HUMAN :
  • P15735
Domain:
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
genes like me logo Genes that share domains with PHKG2: view

Function for PHKG2 Gene

Molecular function for PHKG2 Gene

GENATLAS Biochemistry: phosphorylase kinase,isoform gamma 2,testis,liver and other tissues,glycogen catabolism
UniProtKB/Swiss-Prot CatalyticActivity: 2 ATP + phosphorylase b = 2 ADP + phosphorylase a
UniProtKB/Swiss-Prot Function: Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. May regulate glycogeneolysis in the testis. In vitro, phosphorylates PYGM (By similarity).

Enzyme Numbers (IUBMB) for PHKG2 Gene

Gene Ontology (GO) - Molecular Function for PHKG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity --
GO:0004674 protein serine/threonine kinase activity TAS 10487978
GO:0004689 phosphorylase kinase activity TAS 10487978
GO:0004713 protein tyrosine kinase activity --
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with PHKG2: view

Phenotypes for PHKG2 Gene

genes like me logo Genes that share phenotypes with PHKG2: view

Animal Model Products

CRISPR Products

miRNA for PHKG2 Gene

miRTarBase miRNAs that target PHKG2

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for PHKG2 Gene

Localization for PHKG2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PHKG2 Gene COMPARTMENTS Subcellular localization image for PHKG2 gene
Compartment Confidence
cytosol 4
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for PHKG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005829 cytosol TAS --
GO:0005964 phosphorylase kinase complex TAS 10487978
GO:0016020 membrane --
genes like me logo Genes that share ontologies with PHKG2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PHKG2 Gene

Pathways for PHKG2 Gene

genes like me logo Genes that share pathways with PHKG2: view

Pathways by source for PHKG2 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for PHKG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0005977 glycogen metabolic process TAS 8896567
GO:0005978 glycogen biosynthetic process IEA --
GO:0005980 glycogen catabolic process TAS --
GO:0006006 glucose metabolic process TAS --
genes like me logo Genes that share ontologies with PHKG2: view

Compounds for PHKG2 Gene

(2) HMDB Compounds for PHKG2 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0

(1) Novoseek inferred chemical compound relationships for PHKG2 Gene

Compound -log(P) Hits PubMed IDs
glycogen 54.6 2
genes like me logo Genes that share compounds with PHKG2: view

Transcripts for PHKG2 Gene

Unigene Clusters for PHKG2 Gene

Phosphorylase kinase, gamma 2 (testis):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PHKG2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PHKG2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b
SP1: - - -
SP2: - -
SP3: - - - - -
SP4: - -
SP5: -
SP6:
SP7: -
SP8: -

Relevant External Links for PHKG2 Gene

GeneLoc Exon Structure for
PHKG2
ECgene alternative splicing isoforms for
PHKG2

Expression for PHKG2 Gene

mRNA expression in normal human tissues for PHKG2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PHKG2 Gene

This gene is overexpressed in Testis (5.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PHKG2 Gene

SOURCE GeneReport for Unigene cluster for PHKG2 Gene Hs.65735

genes like me logo Genes that share expressions with PHKG2: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for PHKG2 Gene

Orthologs for PHKG2 Gene

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

Orthologs for PHKG2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PHKG2 35
  • 99.59 (n)
  • 99.75 (a)
PHKG2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PHKG2 35
  • 91.71 (n)
  • 96.31 (a)
PHKG2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PHKG2 35
  • 92.94 (n)
  • 96.31 (a)
PHKG2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Phkg2 35
  • 89.6 (n)
  • 94.06 (a)
Phkg2 16
Phkg2 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PHKG2 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHKG2 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PHKG2 36
  • 74 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.10436 35
zebrafish
(Danio rerio)
Actinopterygii phkg2 35
  • 68.71 (n)
  • 74.47 (a)
phkg2 36
  • 72 (a)
OneToOne
zgc55863 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002647 35
  • 59.26 (n)
  • 57.18 (a)
fruit fly
(Drosophila melanogaster)
Insecta PhKgamma 35
  • 57.95 (n)
  • 56.6 (a)
PhKgamma 36
  • 37 (a)
OneToMany
PhKgamma 37
  • 59 (a)
worm
(Caenorhabditis elegans)
Secernentea Y50D7A.3 35
  • 49.15 (n)
  • 41.55 (a)
Y50D7A.3 36
  • 33 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DUN1 36
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
OneToMany
Species with no ortholog for PHKG2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PHKG2 Gene

ENSEMBL:
Gene Tree for PHKG2 (if available)
TreeFam:
Gene Tree for PHKG2 (if available)

Paralogs for PHKG2 Gene

Paralogs for PHKG2 Gene

genes like me logo Genes that share paralogs with PHKG2: view

Variants for PHKG2 Gene

Sequence variations from dbSNP and Humsavar for PHKG2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs4889503 -- 30,748,227(+) GGCCG(C/T)GTCTG upstream-variant-2KB
rs4889504 -- 30,751,319(+) CGACC(C/T)CCCAC intron-variant, upstream-variant-2KB
rs8049887 -- 30,755,654(+) ctagg(C/T)gacag intron-variant
rs8054528 -- 30,756,019(+) TGTTG(C/T)GCAGG intron-variant
rs9319586 -- 30,751,910(+) AACAC(A/G)GTGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PHKG2 Gene

Variant ID Type Subtype PubMed ID
nsv469724 CNV Loss 16826518
nsv833188 CNV Loss 17160897
nsv905728 CNV Loss 21882294
nsv905729 CNV Loss 21882294
esv2714189 CNV Deletion 23290073
esv2714190 CNV Deletion 23290073
esv2438502 CNV Insertion 19546169
nsv9438 CNV Gain 18304495

Relevant External Links for PHKG2 Gene

HapMap Linkage Disequilibrium report
PHKG2
Human Gene Mutation Database (HGMD)
PHKG2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHKG2 Gene

Disorders for PHKG2 Gene

(1) OMIM Diseases for PHKG2 Gene (172471)

UniProtKB/Swiss-Prot

PHKG2_HUMAN
  • Glycogen storage disease 9C (GSD9C) [MIM:613027]: A metabolic disorder manifesting in infancy with hepatomegaly, growth retardation, hypotonia, liver dysfunction, and elevated plasma aminotransferases and lipids. These symptoms improve with age in most cases; however, some patients may develop hepatic fibrosis or cirrhosis. {ECO:0000269 PubMed:12930917, ECO:0000269 PubMed:8896567, ECO:0000269 PubMed:9245685}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for PHKG2 Gene

(2) Novoseek inferred disease relationships for PHKG2 Gene

Disease -log(P) Hits PubMed IDs
glycogen storage disease 82.5 5
cirrhosis 40.7 3
genes like me logo Genes that share disorders with PHKG2: view

Publications for PHKG2 Gene

  1. Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. (PMID: 8896567) Maichele A.J. … Kilimann M.W. (Nat. Genet. 1996) 3 4 23
  2. Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. (PMID: 9384616) Burwinkel B. … Kilimann M.W. (Hum. Mol. Genet. 1998) 3 4 23
  3. Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene. (PMID: 12930917) Burwinkel B. … Kilimann M.W. (Pediatr. Res. 2003) 3 4 23
  4. Messenger ribonucleic acid encoding an apparent isoform of phosphorylase kinase catalytic subunit is abundant in the adult testis. (PMID: 2915644) Hanks S.K. (Mol. Endocrinol. 1989) 2 3 4
  5. Homology probing: identification of cDNA clones encoding members of the protein-serine kinase family. (PMID: 2948189) Hanks S.K. (Proc. Natl. Acad. Sci. U.S.A. 1987) 3 4

Products for PHKG2 Gene

  • Addgene plasmids for PHKG2

Sources for PHKG2 Gene

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