PYGL Gene (Protein Coding)

Glycogen Phosphorylase L

GC14M050857
GIFtS:
49
This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Hum... See more...

Aliases for PYGL Gene

Aliases for PYGL Gene

  • Glycogen Phosphorylase L 2 3 5
  • Glycogen Phosphorylase, Liver Form 2 3 4
  • EC 2.4.1.1 4 51
  • GSD6 2 3
  • Glycogen Storage Disease Type VI 2
  • Phosphorylase, Glycogen; Liver 2
  • Phosphorylase, Glycogen, Liver 3
  • Hers Disease 2
  • PYGL 5

External Ids for PYGL Gene

Previous GeneCards Identifiers for PYGL Gene

  • GC14M048693
  • GC14M045167
  • GC14M049361
  • GC14M050441
  • GC14M051371
  • GC14M031497
  • GC14M051324

Summaries for PYGL Gene

Entrez Gene Summary for PYGL Gene

  • This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]

GeneCards Summary for PYGL Gene

PYGL (Glycogen Phosphorylase L) is a Protein Coding gene. Diseases associated with PYGL include Glycogen Storage Disease Vi and Glycogen Storage Disease. Among its related pathways are Activation of cAMP-Dependent PKA and Innate Immune System. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and drug binding. An important paralog of this gene is PYGB.

UniProtKB/Swiss-Prot Summary for PYGL Gene

  • Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties.

Additional gene information for PYGL Gene

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

Genomics for PYGL Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PYGL 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
GH14J050942 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 271.9 +0.6 582 3.8 TBP ZBTB10 CEBPA IKZF1 ELF1 ZIC2 KDM6A CEBPB SIN3A FOXA2 PYGL LOC105370492 lnc-ABHD12B-4 VCPKMT NIN MRPL57P9 ABHD12B
GH14J050892 Enhancer 0.7 ENCODE 34.2 +52.0 52045 0.2 CEBPA ZNF511 SMAD4 SAP130 RARA THRB BCL6 DRAP1 SOX5 HMG20A piR-41245-082 piR-32559-138 PYGL NIN lnc-NIN-1 HSALNG0101214 ABHD12B lnc-ABHD12B-2
GH14J050925 Enhancer 0.8 ENCODE 25.5 +17.1 17068 3.7 CEBPA IKZF1 MBD2 CEBPB ARNT ZNF395 GTF2E2 VEZF1 ZEB2 GABPA PYGL ABHD12B NIN MRPL57P9
GH14J050896 Enhancer 0.4 ENCODE 54 +46.6 46593 2.1 POU5F1 NANOG POLR2A piR-37656-084 piR-32559-139 PYGL ABHD12B NIN ENSG00000258745 lnc-ABHD12B-2
GH14J050964 Enhancer 1.1 FANTOM5 Ensembl ENCODE 16.7 -22.7 -22718 6.4 FEZF1 CEBPB FOXA2 SAP130 EP300 SIN3A RFX5 STAT3 GATA3 FOXA1 PYGL ENSG00000258711 LOC400212 piR-48389-006 TRIM9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the PYGL gene promoter:
  • C/EBPalpha
  • E47
  • En-1
  • Hlf
  • Lmo2
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • Zic3
  • ZID

Genomic Locations for PYGL Gene

Latest Assembly
chr14:50,857,891-50,944,483
(GRCh38/hg38)
Size:
86,593 bases
Orientation:
Minus strand

Previous Assembly
chr14:51,371,935-51,411,201
(GRCh37/hg19 by Entrez Gene)
Size:
39,267 bases
Orientation:
Minus strand

chr14:51,324,609-51,411,454
(GRCh37/hg19 by Ensembl)
Size:
86,846 bases
Orientation:
Minus strand

Genomic View for PYGL Gene

Genes around PYGL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PYGL Gene

Proteins for PYGL Gene

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  3. Assay products for research

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

    Protein Symbol:
    P06737-PYGL_HUMAN
    Recommended name:
    Glycogen phosphorylase, liver form
    Protein Accession:
    P06737
    Secondary Accessions:
    • A6NDQ4
    • B4DUB7
    • F5H816
    • O60567
    • O60752
    • O60913
    • Q501V9
    • Q641R5
    • Q96G82

    Protein attributes for PYGL Gene

    Size:
    847 amino acids
    Molecular mass:
    97149 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. Interacts with PPP1R3B (By similarity).

    Three dimensional structures from OCA and Proteopedia for PYGL Gene

    Alternative splice isoforms for PYGL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PYGL Gene

Protein Expression for PYGL Gene

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

Selected DME Specific Peptides for PYGL Gene

P06737:
  • TLVKDRNV
  • DTQVVLA
  • NTMINLG
  • IPELMRI
  • EEADDWLR
  • GKELRLKQ
  • VAIQLNDTHP
  • APNDFNL
  • RWIRTQQHYY
  • NNTVNTMRLWSA
  • HDRFKVFADYE
  • HMAKMII
  • TNGITPRRW
  • KRINMAHLCI
  • PEALERW
  • HAVNGVA
  • YDTPVPGY
  • LPRHLEIIY
  • DLSEQIS
  • VNGVAKIHSDI
  • LGNGGLGRLA
  • YIQAVLDRNLAENI
  • KASKFGS
  • NISRVLYP
  • VKINPSSMFD
  • LDSMATL
  • PLTDQEKR
  • NKTNGIT
  • FSSDRTI
  • DVAALDKKGYEAKEYYEALPELKL
  • EASGTGNMK
  • RDYYFALA
  • DVDRLRRMS
  • KRIHEYKRQL
  • NGALTIGT
  • ELRLKQEYF
  • DFNVGDYI
  • NLGLQNACDEAIYQLGLD
  • IFLENYRVSLAEKVIPA

Post-translational modifications for PYGL Gene

  • Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A.
  • Ubiquitination at Lys170, Lys192, Lys364, Lys395, Lys804, and Lys811
  • Modification sites at PhosphoSitePlus

Other Protein References for PYGL Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PYGL Gene

Gene Families for PYGL Gene

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

Protein Domains for PYGL Gene

InterPro:
Blocks:
  • Glycosyl transferase, family 35
ProtoNet:

Suggested Antigen Peptide Sequences for PYGL Gene

GenScript: Design optimal peptide antigens:
  • Phosphorylase (E9PK47_HUMAN)
  • Phosphorylase (F5H816_HUMAN)
  • Glycogen phosphorylase, liver form (PYGL_HUMAN)
  • PYGL protein (Q6P1L4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P06737

UniProtKB/Swiss-Prot:

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

Function for PYGL Gene

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  6. Cell Lines for research

Molecular function for PYGL Gene

UniProtKB/Swiss-Prot Function:
Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate; Xref=Rhea:RHEA:41732, Rhea:RHEA-COMP:9584, Rhea:RHEA-COMP:9586, ChEBI:CHEBI:15444, ChEBI:CHEBI:43474, ChEBI:CHEBI:58601; EC=2.4.1.1;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activity of phosphorylase is controlled both by allosteric means (through the noncovalent binding of metabolites) and by covalent modification. Thus AMP allosterically activates, whereas ATP, ADP, and glucose-6-phosphate allosterically inhibit, phosphorylase B.
GENATLAS Biochemistry:
phosphorylase,glycogen catabolism,liver

Enzyme Numbers (IUBMB) for PYGL Gene

Phenotypes From GWAS Catalog for PYGL Gene

Gene Ontology (GO) - Molecular Function for PYGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0002060 purine nucleobase binding IDA 12204691
GO:0003824 catalytic activity IEA --
GO:0004645 phosphorylase activity IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with PYGL: view
genes like me logo Genes that share phenotypes with PYGL: view

Human Phenotype Ontology for PYGL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PYGL Gene

MGI Knock Outs for PYGL:
  • Pygl Pygl<tm1a(KOMP)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for PYGL

miRNA for PYGL Gene

miRTarBase miRNAs that target PYGL

Inhibitory RNAs for research

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

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

Localization for PYGL 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 PYGL gene
Compartment Confidence
cytosol 5
extracellular 4
plasma membrane 3
mitochondrion 2
nucleus 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for PYGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0034774 secretory granule lumen TAS --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with PYGL: view

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

Pathways & Interactions for PYGL Gene

PathCards logo

SuperPathways for PYGL Gene

SuperPathway Contained pathways
1 Activation of cAMP-Dependent PKA
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
Activation of PKA through GPCR
.71
PKA Signaling
.56
2 Galactose metabolism
Galactose metabolism
.38
Starch and sucrose metabolism
.31
Glycogen metabolism
.01
3 Innate Immune System
Immune System
.61
Innate Immune System
.61
Neutrophil degranulation
.38
4 Metabolism
Metabolic pathways
.40
Metabolism
.40
5 Glucose metabolism
Glucose metabolism
.40
Glycogen breakdown (glycogenolysis)
.01
genes like me logo Genes that share pathways with PYGL: view

Pathways by source for PYGL Gene

2 BioSystems pathways for PYGL Gene
2 GeneGo (Thomson Reuters) pathways for PYGL Gene
  • Galactose metabolism
  • Glycogen metabolism
4 Qiagen pathways for PYGL Gene
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • cAMP Pathway
  • PKA Signaling

SIGNOR curated interactions for PYGL Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PYGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0005977 glycogen metabolic process IMP 10980448
GO:0005980 glycogen catabolic process TAS --
GO:0006015 5-phosphoribose 1-diphosphate biosynthetic process IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with PYGL: view

Drugs & Compounds for PYGL Gene

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  1. Drug products for research

(14) Drugs for PYGL Gene - From: PharmGKB, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dexamethasone Approved, Investigational, Vet_approved Pharma Anti-inflammatory glucocorticoid 3084
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1874
Gluconolactone Approved, Experimental Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
Pyridoxal Phosphate Approved, Investigational Nutra 17

(4) Additional Compounds for PYGL Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
purine
  • Purine base
  • 1H-Purine
  • 6H-Imidazo[4,5-D]pyrimidine
  • 7-Methyltheophylline
  • 7H-Imidazo(4,5-D)pyrimidine
 120-73-0
genes like me logo Genes that share compounds with PYGL: view

Transcripts for PYGL Gene

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mRNA/cDNA for PYGL Gene

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

Inhibitory RNAs for research

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

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

No ASD Table

Relevant External Links for PYGL Gene

GeneLoc Exon Structure for
PYGL

Expression for PYGL Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for PYGL Gene
mRNA expression by BioGPS for PYGL GenemRNA expression by GTEx for PYGL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Whole Blood (x23.3).

Protein differential expression in normal tissues from HIPED for PYGL Gene

This gene is overexpressed in Liver, secretome (25.0) and Retina (9.6).

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



Protein tissue co-expression partners for PYGL Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PYGL

SOURCE GeneReport for Unigene cluster for PYGL Gene:

Hs.282417

Evidence on tissue expression from TISSUES for PYGL Gene

  • Liver(4.7)
  • Blood(4.6)
  • Nervous system(4.5)
  • Skin(4.5)
  • Heart(3.5)
  • Intestine(2.8)
  • Eye(2.3)
  • Spleen(2.3)
  • Pancreas(2.3)
  • Bone marrow(2.3)
  • Muscle(2.2)
  • Gall bladder(2.2)
  • Adrenal gland(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
Abdomen:
  • adrenal gland
  • liver
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with PYGL: view

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

Orthologs for PYGL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PYGL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia PYGL 30 31
  • 99.65 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PYGL 30 31
  • 91.61 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PYGL 30 31
  • 90.86 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia PYGL 31
  • 90 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia PYGL 31
  • 89 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Pygl 30 17 31
  • 88.78 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Pygl 30
  • 88.51 (n)
Chicken
(Gallus gallus)
 Aves PYGL 30 31
  • 79.68 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PYGL 31
  • 71 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia pygl 30
  • 77.65 (n)
Zebrafish
(Danio rerio)
 Actinopterygii pygl 31
  • 65 (a)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta GlyP 31 32
  • 66 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea T22F3.3 31
  • 60 (a)
 OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F10065g 30
  • 56.27 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes GPH1 30 31
  • 55.7 (n)
 OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AFR547W 30
  • 55.67 (n)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT3G29320 30
  • 54.82 (n)
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.321 30
Soybean
(Glycine max)
 eudicotyledons Gma.7010 30
Rice
(Oryza sativa)
 Liliopsida Os.11216 30
Wheat
(Triticum aestivum)
 Liliopsida Ta.1279 30
Corn
(Zea mays)
 Liliopsida Zm.13152 30
Bread mold
(Neurospora crassa)
 Ascomycetes NCU07027 30
  • 56.47 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 56 (a)
 OneToMany
Species where no ortholog for PYGL was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • 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 Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PYGL Gene

ENSEMBL:
Gene Tree for PYGL (if available)
TreeFam:
Gene Tree for PYGL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PYGL: view image

Paralogs for PYGL Gene

Paralogs for PYGL Gene

(2) SIMAP similar genes for PYGL Gene using alignment to 3 proteins:

  • PYGL_HUMAN
  • E9PK47_HUMAN
  • Q6P1L4_HUMAN
genes like me logo Genes that share paralogs with PYGL: view

Variants for PYGL Gene

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  1. SNP Genotyping and Copy Number Assays for research

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

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
841485 Uncertain Significance: Glycogen storage disease, type VI 50,914,765(-) T/C
NM_002863.5(PYGL):c.1454A>G (p.Asn485Ser) 		MISSENSE
842004 Uncertain Significance: Glycogen storage disease, type VI 50,920,951(-) C/A
NM_002863.5(PYGL):c.772+5G>T 		INTRON
844532 Pathogenic: Glycogen storage disease, type VI 50,917,046(-) C/CAAGG
NM_002863.5(PYGL):c.911_914dup (p.Leu305fs) 		FRAMESHIFT
849156 Pathogenic: Glycogen storage disease, type VI 50,913,028(-) C/A
NM_002863.5(PYGL):c.1620+1G>T 		SPLICE_DONOR
870860 Likely Pathogenic: not provided 50,911,728(-) AC/A
NM_002863.5(PYGL):c.1969+1del 		SPLICE_DONOR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PYGL Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv1083n106 CNV deletion 24896259
dgv637e212 CNV loss 25503493
esv2748710 CNV deletion 23290073
esv3245718 CNV deletion 24192839
esv33577 CNV gain 17666407
esv3551546 CNV deletion 23714750
esv3581193 CNV loss 25503493
esv3634494 CNV loss 21293372
esv3892542 CNV loss 25118596
esv4830 CNV loss 18987735
esv7846 CNV loss 19470904
nsv820614 CNV deletion 20802225
nsv826950 CNV gain+loss 20364138
nsv826951 CNV gain 20364138
nsv832794 CNV gain 17160897
nsv952837 CNV duplication 24416366

Variation tolerance for PYGL Gene

Residual Variation Intolerance Score: 12.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.48; 77.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PYGL Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for PYGL Gene

MalaCards: The human disease database

(8) MalaCards diseases for PYGL Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
glycogen storage disease vi
  • gsd6
glycogen storage disease
  • glycogenoses
hypoglycemia
  • hypoglycaemia
glycogen storage disease ix
  • glycogen storage disease type 9
glycogen storage disease ixa
  • glycogen storage disease type 9a
- elite association - COSMIC cancer census association via MalaCards
Search PYGL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PYGL_HUMAN
  • Glycogen storage disease 6 (GSD6) [MIM:232700]: A metabolic disorder characterized by mild to moderate hypoglycemia, mild ketosis, growth retardation, and prominent hepatomegaly. Heart and skeletal muscle are not affected. {ECO:0000269 PubMed:9529348}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for PYGL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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No data available for Genatlas for PYGL Gene

Publications for PYGL Gene

  1. Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI. (PMID: 9536091) Chang S … Biesecker LG (Human molecular genetics 1998) 3 4 23 74
  2. Intermittent and recurrent hepatomegaly due to glycogen storage in a patient with type 1 diabetes: genetic analysis of the liver glycogen phosphorylase gene (PYGL). (PMID: 15223230) Tomihira M … Nunoi K (Diabetes research and clinical practice 2004) 3 23 41
  3. Structure-activity analysis of the purine binding site of human liver glycogen phosphorylase. (PMID: 12204691) Ekstrom JL … Rath VL (Chemistry & biology 2002) 3 4 23
  4. Human liver glycogen phosphorylase inhibitors bind at a new allosteric site. (PMID: 10980448) Rath VL … Hoover DJ (Chemistry & biology 2000) 3 4 23
  5. Activation of human liver glycogen phosphorylase by alteration of the secondary structure and packing of the catalytic core. (PMID: 10949035) Rath VL … Pandit J (Molecular cell 2000) 3 4 23

ExternalLinks

View latest publications for PYGL gene in Mastermind

Products for PYGL Gene

  • Addgene plasmids for PYGL

Sources for PYGL Gene