ADHDgene Database

Gene Report

Basic Info

Approved Symbol	PYGM
Approved Name	phosphorylase, glycogen, muscle
Previous Name	phosphorylase, glycogen; muscle
Name Alias	McArdle syndrome, "glycogen storage disease type V"
Location	11q12-q13.2
Position	chr11:64513861-64528187, -
External Links	HGNC: 9726 Entrez Gene: 5837 Ensembl: ENSG00000068976 UCSC: uc001oax.3
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
11q	chr11:53700000-135006516	2 (1/1/0)

Gene related GO terms (count: 9)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0000166	nucleotide binding	Molecular Function		73
GO:0005829	cytosol	Cellular Component		447
GO:0005975	carbohydrate metabolic process	Biological Process		50
GO:0005977	glycogen metabolic process	Biological Process	TAS[9633816]	6
GO:0005980	glycogen catabolic process	Biological Process		3
GO:0006006	glucose metabolic process	Biological Process		19
GO:0030170	pyridoxal phosphate binding	Molecular Function		12
GO:0008184	glycogen phosphorylase activity	Molecular Function		1
GO:0044281	small molecule metabolic process	Biological Process		248

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04910	Insulin signaling pathway	29	Insulin binding to its receptor results in the tyrosine phos...... Insulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the regulatory subunit of phosphoinositide 3-kinase (PI3K). PI3K activates 3-phosphoinositide-dependent protein kinase 1 (PDK1), which activates Akt, a serine kinase. Akt in turn deactivates glycogen synthase kinase 3 (GSK-3), leading to activation of glycogen synthase (GYS) and thus glycogen synthesis. Activation of Akt also results in the translocation of GLUT4 vesicles from their intracellular pool to the plasma membrane, where they allow uptake of glucose into the cell. Akt also leads to mTOR-mediated activation of protein synthesis by eIF4 and p70S6K. The translocation of GLUT4 protein is also elicited through the CAP/Cbl/TC10 pathway, once Cbl is phosphorylated by INSR. More...
hsa00500	Starch and sucrose metabolism	26

Genes shared at least 5 GO terms with PYGM (count: 1)

Gene Symbol	Pathway Count	Pathway List
PHKG2	6	cytosol; carbohydrate metabolic process; glycogen metabolic process; glycogen catabolic process; glucose metabolic process; small molecule metabolic process;

Genes shared at least 2 KEGG pathways with PYGM (count: 2)

Gene Symbol	Pathway Count	Pathway List
HK1	2	Insulin signaling pathway; Starch and sucrose metabolism;
HKDC1	2	Insulin signaling pathway; Starch and sucrose metabolism;

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Region: chr11:64513861..64528187 View in gBrowse