PYGL (glycogen phosphorylase L)

2014-11-01 Affiliation

Identity

HGNC

PYGL

LOCATION

14q22.1

LOCUSID

5836

ALIAS

GSD6

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000100504	ENST00000216392	P06737
ENSG00000100504	ENST00000532462	E9PK47
ENSG00000100504	ENST00000544180	P06737

Expression (GTEx)

100

150

200

250

300

350

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Starch and sucrose metabolism	KEGG	ko00500
Insulin signaling pathway	KEGG	ko04910
Starch and sucrose metabolism	KEGG	hsa00500
Insulin signaling pathway	KEGG	hsa04910
Metabolic pathways	KEGG	hsa01100
Glucagon signaling pathway	KEGG	hsa04922
Glucagon signaling pathway	KEGG	ko04922
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Metabolism	REACTOME	R-HSA-1430728
Metabolism of carbohydrates	REACTOME	R-HSA-71387
Glucose metabolism	REACTOME	R-HSA-70326
Glycogen breakdown (glycogenolysis)	REACTOME	R-HSA-70221
Insulin resistance	KEGG	hsa04931
Neutrophil degranulation	REACTOME	R-HSA-6798695

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA446155	Precursor Cell Lymphoblastic Leukemia-Lymphoma	Disease	ClinicalAnnotation	associated	PD	23007406
PA448492	asparaginase	Chemical	ClinicalAnnotation	associated	PD	23007406
PA449247	dexamethasone	Chemical	ClinicalAnnotation	associated	PD	23007406
PA450428	methotrexate	Chemical	ClinicalAnnotation	associated	PD	23007406

References

Pubmed ID	Year	Title	Citations
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
20800603	2010	Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.	12
15223230	2004	Intermittent and recurrent hepatomegaly due to glycogen storage in a patient with type 1 diabetes: genetic analysis of the liver glycogen phosphorylase gene (PYGL).	8
15223230	2004	Intermittent and recurrent hepatomegaly due to glycogen storage in a patient with type 1 diabetes: genetic analysis of the liver glycogen phosphorylase gene (PYGL).	8
17705025	2007	High frequency of missense mutations in glycogen storage disease type VI.	6
32268899	2020	Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports.	0

Citation

Dessen P

PYGL (glycogen phosphorylase L)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72429/pygl