PYGM (glycogen phosphorylase, muscle associated)

2016-10-01 Affiliation

Identity

HGNC

PYGM

LOCATION

11q13.1

LOCUSID

5837

ALIAS

GSD5

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: 5837
MIM: 608455
HGNC: 9726
Ensembl: ENSG00000068976

Variants:

dbSNP: 5837
ClinVar: 5837
TCGA: ENSG00000068976
COSMIC: PYGM

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000068976	ENST00000164139	P11217
ENSG00000068976	ENST00000377432	P11217

Expression (GTEx)

500

1000

1500

2000

2500

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
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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
35022222	2022	Whole-exome sequencing detects PYGM variants in two adults with McArdle disease.	1
35022222	2022	Whole-exome sequencing detects PYGM variants in two adults with McArdle disease.	1
33924466	2021	Muscle Glycogen Phosphorylase and Its Functional Partners in Health and Disease.	23
33924466	2021	Muscle Glycogen Phosphorylase and Its Functional Partners in Health and Disease.	23
31747538	2020	The effect of muscle glycogen phosphorylase (Pygm) knockdown on zebrafish morphology.	10
32386344	2020	A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation.	2
32735634	2020	PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features.	1
31747538	2020	The effect of muscle glycogen phosphorylase (Pygm) knockdown on zebrafish morphology.	10
32386344	2020	A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation.	2
32735634	2020	PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features.	1
31324732	2019	Bioinformatics-based discovery of PYGM and TNNC2 as potential biomarkers of head and neck squamous cell carcinoma.	13
31324732	2019	Bioinformatics-based discovery of PYGM and TNNC2 as potential biomarkers of head and neck squamous cell carcinoma.	13
28120463	2018	Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia.	3
30011114	2018	Missense mutations have unexpected consequences: The McArdle disease paradigm.	8
28120463	2018	Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia.	3

Citation

Dessen P

PYGM (glycogen phosphorylase, muscle associated)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56428/pygm-(glycogen-phosphorylase-muscle-associated)