PHKG2 Gene (Protein Coding)

Phosphorylase Kinase Catalytic Subunit Gamma 2

GC16P030749
GIFtS:
45
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 i... See more...

Aliases for PHKG2 Gene

Aliases for PHKG2 Gene

  • Phosphorylase Kinase Catalytic Subunit Gamma 2 2 3 5
  • Phosphorylase B Kinase Gamma Catalytic Chain, Liver/Testis Isoform 3 4
  • 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 51
  • PHK-Gamma-T 3 4
  • PSK-C3 3 4
  • 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 51
  • GSD9C 3
  • PHKG2 5

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 Signal transduction_PKA signaling and Activation of cAMP-Dependent PKA. Gene Ontology (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 Summary 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

Additional gene information for PHKG2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PHKG2 Gene

Genomics for PHKG2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PHKG2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PHKG2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PHKG2

Top Transcription factor binding sites by QIAGEN in the PHKG2 gene promoter:
  • AP-4
  • ARP-1
  • c-Myc
  • Cdc5
  • E2F
  • E2F-1
  • Ik-2
  • Lmo2
  • Max1
  • Pax-5

Genomic Locations for PHKG2 Gene

Genomic Locations for PHKG2 Gene
chr16:30,748,293-30,761,176
(GRCh38/hg38)
Size:
12,884 bases
Orientation:
Plus strand
chr16:30,759,591-30,772,497
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for PHKG2 Gene

Proteins for PHKG2 Gene

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  • 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

Protein Expression for PHKG2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

Other Protein References for PHKG2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PHKG2 Gene

Gene Families for PHKG2 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PHKG2 Gene

InterPro:
Blocks:
  • Phosphorylase kinase family signature
ProtoNet:

Suggested Antigen Peptide Sequences for PHKG2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59667, highly similar to Phosphorylase b kinase gamma catalytic chain, testis/liver isoform (EC 2.7.11.19) (B4DEB7_HUMAN)
  • Phosphorylase kinase subunit gamma-2 (PHKG2_HUMAN)

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

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  2. CRISPR
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Molecular function for PHKG2 Gene

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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 ATP + phosphorylase b = 2 ADP + phosphorylase a.; EC=2.7.11.19;.
GENATLAS Biochemistry:
phosphorylase kinase,isoform gamma 2,testis,liver and other tissues,glycogen catabolism

Enzyme Numbers (IUBMB) for PHKG2 Gene

Phenotypes From GWAS Catalog for PHKG2 Gene

Gene Ontology (GO) - Molecular Function for PHKG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA,TAS 10487978
GO:0004689 phosphorylase kinase activity IEA,TAS 10487978
GO:0005515 protein binding IPI 23455922
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:
  • Phkg2 Phkg2<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PHKG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA,TAS --
GO:0005964 phosphorylase kinase complex IEA,TAS 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

1 BioSystems pathway for PHKG2 Gene
2 GeneGo (Thomson Reuters) pathways for PHKG2 Gene
  • Signal transduction cAMP signaling
  • Signal transduction_PKA signaling
4 Qiagen pathways for PHKG2 Gene
  • Activation of cAMP-Dependent PKA
  • Alpha-Adrenergic Signaling
  • cAMP Pathway
  • PKA Signaling

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

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  1. Drug

(1) Drugs for PHKG2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with PHKG2: view

Transcripts for PHKG2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
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mRNA/cDNA for PHKG2 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for PHKG2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PHKG2 Gene

mRNA expression in normal human tissues for PHKG2 Gene
mRNA expression by GTEx for PHKG2 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for PHKG2 Gene



Protein tissue co-expression partners for PHKG2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.5)
  • Blood(2.2)
  • Muscle(2.1)

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
Regions:
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

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 30 31
  • 99.59 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PHKG2 30 31
  • 92.94 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PHKG2 30 31
  • 91.71 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia PHKG2 31
  • 90 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Phkg2 30 17 31
  • 89.6 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia PHKG2 31
  • 72 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PHKG2 31
  • 74 (a)
 OneToOne
African clawed frog
(Xenopus laevis)
 Amphibia Xl.10436 30
Zebrafish
(Danio rerio)
 Actinopterygii phkg2 30 31
  • 68.71 (n)
 OneToOne
zgc55863 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP002647 30
  • 59.26 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta PhKgamma 30 31 32
  • 57.95 (n)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea Y50D7A.3 30 31
  • 49.15 (n)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes DUN1 31
  • 21 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 52 (a)
 OneToMany
Species where no ortholog for PHKG2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PHKG2: view image

Paralogs for PHKG2 Gene

Paralogs for PHKG2 Gene

(95) SIMAP similar genes for PHKG2 Gene using alignment to 6 proteins:

  • PHKG2_HUMAN
  • H3BN16_HUMAN
  • H3BP07_HUMAN
  • H3BTI9_HUMAN
  • H3BTW6_HUMAN
  • J3KNN3_HUMAN
genes like me logo Genes that share paralogs with PHKG2: view

Variants for PHKG2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PHKG2 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
13629 Pathogenic: Glycogen storage disease IXc 30,751,551(+) AC/A FRAMESHIFT_VARIANT
639980 Uncertain Significance: Glycogen storage disease IXc 30,756,699(+) C/A MISSENSE_VARIANT
646983 Uncertain Significance: Glycogen storage disease IXc 30,748,891(+) A/G MISSENSE_VARIANT
647411 Uncertain Significance: Glycogen storage disease IXc 30,751,237(+) G/A MISSENSE_VARIANT
662397 Uncertain Significance: Glycogen storage disease IXc 30,751,254(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PHKG2 Gene

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)

Additional Variant Information for PHKG2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PHKG2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for PHKG2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease ixc
  • gsd9c
glycogen storage disease due to liver phosphorylase kinase deficiency
  • glycogen storage disease type 9a
glycogen storage disease
  • gsd
phosphorylase kinase deficiency
  • glycogen storage disease type ix
glycogen storage disease ix
  • glycogen storage disease type 9
- 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.

Additional Disease Information for PHKG2

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 MW (Pediatric research 2003) 3 4 23
  2. Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. (PMID: 9384616) Burwinkel B … Kilimann MW (Human molecular genetics 1998) 3 4 23
  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 AJ … Kilimann MW (Nature genetics 1996) 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 SK (Molecular endocrinology (Baltimore, Md.) 1989) 2 3 4
  5. Glycogen storage disease type IX: High variability in clinical phenotype. (PMID: 17689125) Beauchamp NJ … Sharrard M (Molecular genetics and metabolism 2007) 3 23

ExternalLinks

View latest publications for PHKG2 gene in Mastermind

Products for PHKG2 Gene

  • Addgene plasmids for PHKG2
  • Signalway Proteins for PHKG2

Sources for PHKG2 Gene