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Aliases for PYGB Gene

Aliases for PYGB Gene

  • Glycogen Phosphorylase B 2 3 5
  • Glycogen Phosphorylase, Brain Form 2 3
  • Phosphorylase, Glycogen; Brain 2 3
  • EC 2.4.1.1 4 56
  • GPBB 3

External Ids for PYGB Gene

Previous GeneCards Identifiers for PYGB Gene

  • GC20P025216
  • GC20P025223
  • GC20P025176
  • GC20P025228
  • GC20P025186

Summaries for PYGB Gene

Entrez Gene Summary for PYGB Gene

  • The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. [provided by RefSeq, Jul 2008]

GeneCards Summary for PYGB Gene

PYGB (Glycogen Phosphorylase B) is a Protein Coding gene. Diseases associated with PYGB include Myocardial Infarction. Among its related pathways are Glycosaminoglycan metabolism and Innate Immune System. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and glycogen phosphorylase activity. An important paralog of this gene is PYGM.

UniProtKB/Swiss-Prot for PYGB Gene

  • Glycogen phosphorylase that regulates glycogen mobilization (PubMed:27402852). Phosphorylase is an important allosteric enzyme in carbohydrate metabolism (PubMed:3346228). Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates (PubMed:3346228). However, all known phosphorylases share catalytic and structural properties (PubMed:3346228).

Additional gene information for PYGB Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PYGB Gene

Genomics for PYGB Gene

GeneHancer (GH) Regulatory Elements for PYGB Gene

Promoters and enhancers for PYGB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I025245 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 587.4 +0.6 610 6 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 PYGB LOC105372580 ABHD12 ENTPD6 ZNF337 FAM182A FAM182B ENSG00000274507
GH20I025194 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 31.3 -51.7 -51698 3.4 MLX ZFP64 ARID4B SIN3A DMAP1 YBX1 ZBTB7B POLR2B ZNF143 SP3 ENTPD6 LOC101926889 PYGB FAM182B NINL ABHD12 ACSS1 VN1R108P VSX1 CST7
GH20I025406 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 20.5 +160.1 160144 2.5 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 POLR2B GINS1 LOC105372581 PIR61298 ABHD12 NANP PYGB ZNF337 FAM182B ZNF337-AS1
GH20I025225 Enhancer 1.3 Ensembl ENCODE dbSUPER 32.4 -21.4 -21388 2.6 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ATF7 RXRA KAT8 MEF2D ENSG00000279322 ABHD12 PYGB ENTPD6 FAM182A NINL ENSG00000202414
GH20I025222 Enhancer 1.3 Ensembl ENCODE dbSUPER 32.2 -24.7 -24658 2.6 ATF1 ARID4B SIN3A FEZF1 DMAP1 ZNF48 ETS1 TCF12 GLIS2 FOS PYGB ABHD12 ENTPD6 ENSG00000279322 ENSG00000202414
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PYGB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PYGB gene promoter:

Genomic Locations for PYGB Gene

Genomic Locations for PYGB Gene
chr20:25,248,069-25,298,014
(GRCh38/hg38)
Size:
49,946 bases
Orientation:
Plus strand
chr20:25,228,705-25,278,650
(GRCh37/hg19)

Genomic View for PYGB Gene

Genes around PYGB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PYGB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PYGB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PYGB Gene

Proteins for PYGB Gene

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

    Protein Symbol:
    P11216-PYGB_HUMAN
    Recommended name:
    Glycogen phosphorylase, brain form
    Protein Accession:
    P11216
    Secondary Accessions:
    • Q96AK1
    • Q9NPX8

    Protein attributes for PYGB Gene

    Size:
    843 amino acids
    Molecular mass:
    96696 Da
    Cofactor:
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer. Dimers associate into a tetramer to form the enzymatically active phosphorylase A.

    Three dimensional structures from OCA and Proteopedia for PYGB Gene

neXtProt entry for PYGB Gene

Selected DME Specific Peptides for PYGB Gene

P11216:
  • TLVKDRNV
  • DTQVVLA
  • TLYNRIK
  • IPELMRI
  • YAREIWGVEP
  • EEADDWLR
  • GKELRLKQ
  • KAWEITKKT
  • IGDVVNHDP
  • VAIQLNDTHP
  • RWIRTQQHYY
  • LPVHFYGRVEH
  • DPKRIYYLSLE
  • NNTVNTMRLWSA
  • GYGIRYEFGIF
  • GRTLQNTMVNL
  • HDRFKVFADYE
  • TNGITPRRW
  • PEALERW
  • HAVNGVA
  • YDTPVPGY
  • LPRHLEIIY
  • VNTMRLWSAKAP
  • KQISVRG
  • LGNGGLGRLA
  • NISRVLYP
  • VKINPSSMFD
  • FKDFYELEP
  • LDSMATL
  • NKTNGIT
  • RTVMIGGKA
  • FSSDRTI
  • EASGTGNMK
  • IIKLVTS
  • DVDRLRRMS
  • KRIHEYKRQL
  • WLRYGNPWEKARPE
  • NGALTIGT
  • FGCRDPVRT
  • ELRLKQEYF
  • DFNVGDYI
  • NLGLQNACDEAIYQLGLD
  • IFLENYRVSLAEKVIPA

Post-translational modifications for PYGB Gene

  • Phosphorylated (PubMed:27402852). Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A (By similarity).
  • Ubiquitination at isoforms=371 and Lys521
  • Modification sites at PhosphoSitePlus

Other Protein References for PYGB Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PYGB Gene

Gene Families for PYGB Gene

HGNC:
Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PYGB Gene

Graphical View of Domain Structure for InterPro Entry

P11216

UniProtKB/Swiss-Prot:

PYGB_HUMAN :
  • Belongs to the glycogen phosphorylase family.
Family:
  • Belongs to the glycogen phosphorylase family.
genes like me logo Genes that share domains with PYGB: view

Function for PYGB Gene

Molecular function for PYGB Gene

GENATLAS Biochemistry:
phosphorylase,glycogen catabolism,brain
UniProtKB/Swiss-Prot CatalyticActivity:
((1->4)-alpha-D-glucosyl)(n) + phosphate = ((1->4)-alpha-D-glucosyl)(n-1) + alpha-D-glucose 1-phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activity of phosphorylase is controlled both by allosteric means (through the non-covalent binding of metabolites) and by covalent modification. Thus AMP allosterically activates, whereas ATP, ADP, and glucose-6-phosphate allosterically inhibit, phosphorylase B. Activated upon phosphorylation.
UniProtKB/Swiss-Prot Function:
Glycogen phosphorylase that regulates glycogen mobilization (PubMed:27402852). Phosphorylase is an important allosteric enzyme in carbohydrate metabolism (PubMed:3346228). Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates (PubMed:3346228). However, all known phosphorylases share catalytic and structural properties (PubMed:3346228).

Enzyme Numbers (IUBMB) for PYGB Gene

Phenotypes From GWAS Catalog for PYGB Gene

Gene Ontology (GO) - Molecular Function for PYGB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004645 phosphorylase activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0008184 glycogen phosphorylase activity IEA,NAS 3346228
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with PYGB: view
genes like me logo Genes that share phenotypes with PYGB: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PYGB

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PYGB Gene

Localization for PYGB 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 PYGB gene
Compartment Confidence
extracellular 5
cytosol 4
lysosome 4
plasma membrane 2
cytoskeleton 2
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PYGB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IDA 10638593
GO:0016020 membrane IDA,HDA 19946888
GO:0035578 azurophil granule lumen TAS --
GO:0070062 extracellular exosome HDA,IDA 23533145
genes like me logo Genes that share ontologies with PYGB: view

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

Pathways & Interactions for PYGB Gene

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

Pathways by source for PYGB Gene

Gene Ontology (GO) - Biological Process for PYGB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0005977 glycogen metabolic process IEA --
GO:0005980 glycogen catabolic process NAS 3346228
GO:0008152 metabolic process IEA --
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with PYGB: view

No data available for SIGNOR curated interactions for PYGB Gene

Drugs & Compounds for PYGB Gene

(15) Drugs for PYGB Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 17
Gluconolactone Approved, Experimental Pharma 0
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
Glucose 6-phosphate Experimental Pharma 0

(14) Additional Compounds for PYGB Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Glycogen
  • Animal starch
  • Glycogen
  • Liver starch
  • Lyoglycogen
  • Phytoglycogen
9005-79-2
amylose
  • (1,4-alpha-D-Glucosyl)N
  • (1,4-alpha-D-Glucosyl)N+1
  • (1,4-alpha-D-Glucosyl)N-1
  • (1,4-alpha-delta-Glucosyl)N
  • (1,4-alpha-delta-Glucosyl)N+1
9005-82-7
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with PYGB: view

Transcripts for PYGB Gene

mRNA/cDNA for PYGB Gene

Unigene Clusters for PYGB Gene

Phosphorylase, glycogen; brain:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for PYGB Gene

GeneLoc Exon Structure for
PYGB
ECgene alternative splicing isoforms for
PYGB

Expression for PYGB Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PYGB Gene

This gene is overexpressed in Salivary gland (8.1).

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



Protein tissue co-expression partners for PYGB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PYGB Gene:

PYGB

SOURCE GeneReport for Unigene cluster for PYGB Gene:

Hs.368157

Evidence on tissue expression from TISSUES for PYGB Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Lung(4.7)
  • Skin(4.7)
  • Blood(4.6)
  • Intestine(4.4)
  • Heart(4.2)
  • Muscle(3.2)
  • Eye(2.9)
  • Gall bladder(2.4)
  • Adrenal gland(2.3)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with PYGB: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PYGB Gene

Orthologs for PYGB Gene

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

Orthologs for PYGB Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
Mammalia PYGB 34
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PYGB 33
  • 96.65 (n)
oppossum
(Monodelphis domestica)
Mammalia PYGB 34
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PYGB 33 34
  • 89.92 (n)
cow
(Bos Taurus)
Mammalia PYGB 33 34
  • 89.68 (n)
mouse
(Mus musculus)
Mammalia Pygb 33 16 34
  • 88.61 (n)
rat
(Rattus norvegicus)
Mammalia Pygb 33
  • 88.53 (n)
chicken
(Gallus gallus)
Aves PYGB 33 34
  • 82.68 (n)
lizard
(Anolis carolinensis)
Reptilia PYGB 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pygm 33
  • 77.74 (n)
Str.6167 33
African clawed frog
(Xenopus laevis)
Amphibia pygm-prov 33
zebrafish
(Danio rerio)
Actinopterygii pygb 33 34
  • 76.63 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4316 33
fruit fly
(Drosophila melanogaster)
Insecta GlyP 35 34
  • 72 (a)
worm
(Caenorhabditis elegans)
Secernentea T22F3.3 34
  • 64 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPH1 34
  • 45 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 62 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4721 33
Species where no ortholog for PYGB 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)
  • 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 PYGB Gene

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

Paralogs for PYGB Gene

Paralogs for PYGB Gene

(2) SIMAP similar genes for PYGB Gene using alignment to 2 proteins:

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

Variants for PYGB Gene

Sequence variations from dbSNP and Humsavar for PYGB Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000004955 -- 25,254,634(+) AAAA/AAA/AAAAA intron_variant
rs1000008499 -- 25,251,253(+) A/G intron_variant
rs1000079877 -- 25,249,916(+) C/A intron_variant
rs1000137671 -- 25,265,007(+) T/C intron_variant
rs1000231445 -- 25,292,326(+) C/T intron_variant

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

Variant ID Type Subtype PubMed ID
dgv4290n100 CNV gain 25217958
dgv779e214 CNV gain 21293372
esv3645581 CNV loss 21293372
esv3645582 CNV loss 21293372
esv3645583 CNV gain 21293372
nsv522873 CNV gain 19592680
nsv585746 CNV gain 21841781
nsv828708 CNV gain 20364138
nsv833948 CNV loss 17160897
nsv953009 CNV deletion 24416366

Variation tolerance for PYGB Gene

Residual Variation Intolerance Score: 10.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.72; 91.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PYGB Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PYGB Gene

MalaCards: The human disease database

(1) MalaCards diseases for PYGB Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myocardial infarction
  • myocardial infarction, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search PYGB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PYGB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PYGB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PYGB Gene

Publications for PYGB Gene

  1. Insights into Brain Glycogen Metabolism: THE STRUCTURE OF HUMAN BRAIN GLYCOGEN PHOSPHORYLASE. (PMID: 27402852) Mathieu C … Rodrigues-Lima F (The Journal of biological chemistry 2016) 3 4 58
  2. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 44 58
  3. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 44 58
  4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 44 58
  5. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PMID: 19204726) Chapuis J … Lambert JC (Molecular psychiatry 2009) 3 44 58

Products for PYGB Gene

Sources for PYGB Gene

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