PYGL (glycogen phosphorylase L)

2014-11-01  

Identity

HGNC
LOCATION
14q22.1
LOCUSID
ALIAS
GSD6
FUSION GENES

Other Information

Locus ID:

NCBI: 5836
MIM: 613741
HGNC: 9725
Ensembl: ENSG00000100504

Variants:

dbSNP: 5836
ClinVar: 5836
TCGA: ENSG00000100504
COSMIC: PYGL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100504ENST00000216392P06737
ENSG00000100504ENST00000532462E9PK47
ENSG00000100504ENST00000544180P06737

Expression (GTEx)

0
50
100
150
200
250
300
350

Pathways

PathwaySourceExternal ID
Starch and sucrose metabolismKEGGko00500
Insulin signaling pathwayKEGGko04910
Starch and sucrose metabolismKEGGhsa00500
Insulin signaling pathwayKEGGhsa04910
Metabolic pathwaysKEGGhsa01100
Glucagon signaling pathwayKEGGhsa04922
Glucagon signaling pathwayKEGGko04922
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glucose metabolismREACTOMER-HSA-70326
Glycogen breakdown (glycogenolysis)REACTOMER-HSA-70221
Insulin resistanceKEGGhsa04931
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA446155Precursor Cell Lymphoblastic Leukemia-LymphomaDiseaseClinicalAnnotationassociatedPD23007406
PA448492asparaginaseChemicalClinicalAnnotationassociatedPD23007406
PA449247dexamethasoneChemicalClinicalAnnotationassociatedPD23007406
PA450428methotrexateChemicalClinicalAnnotationassociatedPD23007406

References

Pubmed IDYearTitleCitations
350374702022Identification of PYGL as a key prognostic gene of glioma by integrated bioinformatics analysis.2
356118512022miR-155-5p regulates hypoxia-induced pulmonary artery smooth muscle cell function by targeting PYGL.6
350374702022Identification of PYGL as a key prognostic gene of glioma by integrated bioinformatics analysis.2
356118512022miR-155-5p regulates hypoxia-induced pulmonary artery smooth muscle cell function by targeting PYGL.6
338796912021Glycogen storage disease type VI with a novel PYGL mutation: Two case reports and literature review.5
345163622021Long noncoding RNA KCNMB2-AS1 promotes the development of esophageal cancer by modulating the miR-3194-3p/PYGL axis.8
346753312021Human hair follicles operate an internal Cori cycle and modulate their growth via glycogen phosphorylase.9
338796912021Glycogen storage disease type VI with a novel PYGL mutation: Two case reports and literature review.5
345163622021Long noncoding RNA KCNMB2-AS1 promotes the development of esophageal cancer by modulating the miR-3194-3p/PYGL axis.8
346753312021Human hair follicles operate an internal Cori cycle and modulate their growth via glycogen phosphorylase.9
321262442020The vitamin B6-regulated enzymes PYGL and G6PD fuel NADPH oxidases to promote skin inflammation.15
322688992020Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports.9
328921772020Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review.6
321262442020The vitamin B6-regulated enzymes PYGL and G6PD fuel NADPH oxidases to promote skin inflammation.15
322688992020Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports.9

Citation

Dessen P

PYGL (glycogen phosphorylase L)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72429/pygl-(glycogen-phosphorylase-l)