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Aliases for PHKG2 Gene

Aliases for PHKG2 Gene

  • Phosphorylase Kinase Catalytic Subunit Gamma 2 2 3 5
  • 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 61
  • PHK-Gamma-T 3 4
  • PSK-C3 3 4
  • 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
  • Phosphorylase Kinase Gamma Subunit 2 3
  • EC 2.7.11 61
  • GSD9C 3

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 Catalytic Subunit Gamma 2) is a Protein Coding gene. Diseases associated with PHKG2 include Glycogen Storage Disease Ixc and Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency. Among its related pathways are Activation of cAMP-Dependent PKA and Glucagon signaling pathway. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHKG2 Gene

Genomics for PHKG2 Gene

Regulatory Elements for PHKG2 Gene

Enhancers for PHKG2 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
GH16G030724 0.9 Ensembl ENCODE 13.7 -23.0 -23034 1.9 ZNF621 ZNF223 YBX1 ZNF311 POLR2A ZNF600 HNF4A ZNF248 ZNF300 SUPT5H ZNF720 BCL7C ZNF785 PHKG2 RNU6-1043P SRCAP RNF40 CCDC189 ZNF629 ZNF48
GH16G030720 0.6 ENCODE 12.4 -26.3 -26308 2.5 PAF1 CTCF ZNF10 RAD21 SSRP1 POLR2A GLIS1 ZNF600 RBFOX2 PHKG2 SRCAP RNU6-1043P RNF40 CCDC189 GC16P030714 PIR52044
GH16G030633 1.8 FANTOM5 Ensembl ENCODE 3.4 -113.6 -113570 2.6 PKNOX1 CREB3L1 AGO1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 CCDC189 ZNF764 ZNF688 SRCAP ZNF785 ENSG00000239791 FBRS DCTPP1 ZNF629 RNU6-1043P
GH16G031125 2 FANTOM5 Ensembl ENCODE dbSUPER 2 +382.9 382869 10.7 CREB3L1 MLX AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 KAT8 ITGAX ZNF764 BCL7C ITGAM ZNF646 ZNF668 ENSG00000260267 ENSG00000260304 NPIPB13
GH16G030872 1.6 FANTOM5 ENCODE 1.6 +126.6 126615 5.3 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZNF720 BCL7C CCDC189 ZNF629 HSD3B7 ENSG00000260267 ZNF785 ZNF771 RNF40 ZNF747
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PHKG2 on UCSC Golden Path with GeneCards custom track

Promoters for PHKG2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000085243 401 1401 HDGF PKNOX1 CREB3L1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for PHKG2 Gene

Chromosome:
16
Start:
30,748,270 bp from pter
End:
30,761,176 bp from pter
Size:
12,907 bases
Orientation:
Plus strand

Genomic View for PHKG2 Gene

Genes around PHKG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHKG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for PHKG2 Gene

P15735:
  • HPGYGKEVD
  • GYGKEVD
  • NIVHRDLKPENILLDD
  • LSEKETR
  • YGHWVKKG
  • WACGVIL
  • GRGVSSVVRRC
  • GELFDYLTEKV
  • RDPYALR
  • FLVFDLM
  • RDLKPEN
  • QQNRAALF
  • TLLAGSPPFWHR
  • RLTAEQALQ
  • VHRDLKP
  • IVHRDLK
  • KPENILLD

Post-translational modifications for PHKG2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PHKG2 Gene

Gene Families for PHKG2 Gene

Graphical View of Domain Structure for InterPro Entry

P15735

UniProtKB/Swiss-Prot:

PHKG2_HUMAN :
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
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 IEA --
GO:0004674 protein serine/threonine kinase activity TAS,IEA 10487978
GO:0004689 phosphorylase kinase activity IEA,TAS 10487978
GO:0005515 protein binding IPI 23455922
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with PHKG2: view
genes like me logo Genes that share phenotypes with PHKG2: view

Human Phenotype Ontology for PHKG2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PHKG2 Gene

MGI Knock Outs for PHKG2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PHKG2

No data available for Transcription Factor Targets and HOMER Transcription for PHKG2 Gene

Localization for PHKG2 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 PHKG2 gene
Compartment Confidence
cytosol 5
mitochondrion 2
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,IDA --
GO:0005964 phosphorylase kinase complex TAS,IEA 10487978
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 & Interactions for PHKG2 Gene

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

Pathways by source for PHKG2 Gene

Gene Ontology (GO) - Biological Process for PHKG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0005977 glycogen metabolic process TAS 8896567
GO:0005978 glycogen biosynthetic process IEA --
GO:0005980 glycogen catabolic process TAS --
GO:0006091 generation of precursor metabolites and energy TAS 8896567
genes like me logo Genes that share ontologies with PHKG2: view

No data available for SIGNOR curated interactions for PHKG2 Gene

Drugs & Compounds for PHKG2 Gene

(1) Drugs for PHKG2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(2) Additional Compounds for PHKG2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
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

Clone Products

  • Addgene plasmids for PHKG2

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x5.6).

Protein differential expression in normal tissues from HIPED for PHKG2 Gene

This gene is overexpressed in Lung (18.8) and Peripheral blood mononuclear cells (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PHKG2 Gene



Protein tissue co-expression partners for PHKG2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PHKG2 Gene:

PHKG2

SOURCE GeneReport for Unigene cluster for PHKG2 Gene:

Hs.65735

Evidence on tissue expression from TISSUES for PHKG2 Gene

  • Nervous system(4.6)
  • Liver(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PHKG2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • head
  • mouth
  • salivary gland
Thorax:
  • breast
  • esophagus
  • heart
Abdomen:
  • adrenal gland
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • liver
  • pancreas
  • small intestine
  • spleen
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with PHKG2: view

Primer 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 34 35
  • 99.59 (n)
dog
(Canis familiaris)
Mammalia PHKG2 34 35
  • 92.94 (n)
cow
(Bos Taurus)
Mammalia PHKG2 34 35
  • 91.71 (n)
oppossum
(Monodelphis domestica)
Mammalia PHKG2 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Phkg2 34 16 35
  • 89.6 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PHKG2 35
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PHKG2 35
  • 74 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.10436 34
zebrafish
(Danio rerio)
Actinopterygii phkg2 34 35
  • 68.71 (n)
zgc55863 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002647 34
  • 59.26 (n)
fruit fly
(Drosophila melanogaster)
Insecta PhKgamma 36 34 35
  • 57.95 (n)
worm
(Caenorhabditis elegans)
Secernentea Y50D7A.3 34 35
  • 49.15 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DUN1 35
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 52 (a)
OneToMany
Species where no ortholog for PHKG2 was found in the sources mined by GeneCards:
  • 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
rs137853588 Pathogenic, Glycogen storage disease 9C (GSD9C) [MIM:613027] 30,756,191(+) GTGTG(A/G)GACCC reference, missense
rs137853589 Pathogenic, Glycogen storage disease 9C (GSD9C) [MIM:613027] 30,751,594(+) CCTGG(A/T)GTTTG reference, missense
rs752961445 Glycogen storage disease 9C (GSD9C) [MIM:613027] 30,753,470(+) AGCCC(A/G)AGAAT reference, missense
rs767427889 Glycogen storage disease 9C (GSD9C) [MIM:613027] 30,756,268(+) AGGTC(A/G)ACCTG reference, missense
rs137853590 Pathogenic 30,751,140(+) TTCAT(C/T)GAGCT reference, stop-gained

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

Variant ID Type Subtype PubMed ID
esv2438502 CNV insertion 19546169
esv2714189 CNV deletion 23290073
esv2714190 CNV deletion 23290073
nsv1118349 CNV deletion 24896259
nsv469724 CNV loss 16826518
nsv833188 CNV loss 17160897
nsv9438 CNV gain 18304495

Variation tolerance for PHKG2 Gene

Residual Variation Intolerance Score: 11.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.26; 25.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PHKG2 Gene

Human Gene Mutation Database (HGMD)
PHKG2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHKG2

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

Disorders for PHKG2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for PHKG2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease ixc
  • glycogen storage disease type 9c
glycogen storage disease due to liver phosphorylase kinase deficiency
  • gsd due to liver phosphorylase kinase deficiency
phkg2-related phosphorylase kinase deficiency
  • glycogen storage disease type ixc
glycogen storage disease
  • glycogenoses
phosphorylase kinase deficiency
  • glycogen storage disease type ix
- elite association - COSMIC cancer census association via MalaCards
Search PHKG2 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for PHKG2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PHKG2
genes like me logo Genes that share disorders with PHKG2: view

No data available for Genatlas for PHKG2 Gene

Publications for PHKG2 Gene

  1. 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 22 64
  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 22 64
  3. 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 22 64
  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 64
  5. Glycogen storage disease type IX: High variability in clinical phenotype. (PMID: 17689125) Beauchamp N.J. … Sharrard M. (Mol. Genet. Metab. 2007) 3 22 64

Products for PHKG2 Gene

  • Addgene plasmids for PHKG2

Sources for PHKG2 Gene

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