Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5837
Gene name Gene Name - the full gene name approved by the HGNC.	Glycogen phosphorylase, muscle associated
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PYGM
Synonyms (NCBI Gene) Gene synonyms aliases	GSD5
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q13.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage dise

Show/Hide all(90)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61736659	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs114073621	G>A	Pathogenic	Coding sequence variant, stop gained
rs114468011	T>C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs116135678	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs116180923	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs116315896	C>T	Pathogenic, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs116987552	G>A	Pathogenic	Coding sequence variant, stop gained
rs119103251	C>T	Pathogenic	Coding sequence variant, missense variant
rs119103252	T>G	Pathogenic	Coding sequence variant, missense variant
rs119103253	C>T	Pathogenic	Coding sequence variant, missense variant
rs119103254	A>G	Pathogenic	Coding sequence variant, missense variant
rs119103255	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs119103256	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs119103257	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs119103259	C>T	Likely-pathogenic	Coding sequence variant, synonymous variant
rs119103260	A>C,G	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant
rs139726186	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs141959242	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs142054672	T>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs143401208	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs144081869	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs200357590	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201711087	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs267606993	T>A,C,G	Pathogenic, likely-pathogenic	Missense variant, initiator codon variant
rs368602234	->G	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs370247862	G>A	Pathogenic	Missense variant, coding sequence variant, intron variant
rs377225525	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs397514631	T>C	Pathogenic	Missense variant, coding sequence variant
rs398124208	C>G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs398124209	G>C	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs527236146	G>T	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs527236147	AAG>-	Pathogenic-likely-pathogenic	Coding sequence variant, inframe deletion
rs558267822	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs568496266	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs747513238	A>C	Likely-pathogenic	Splice donor variant
rs749560316	C>G,T	Likely-pathogenic	Splice donor variant
rs750857876	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs752622662	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs752848974	C>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs752851284	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs753181427	C>A,G	Likely-pathogenic	Splice donor variant
rs755117847	CA>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs757681143	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs759657964	C>T	Likely-pathogenic	Splice donor variant
rs764313717	T>C	Pathogenic, conflicting-interpretations-of-pathogenicity	Intron variant
rs767739769	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs768604948	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs769172044	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs769960481	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs770037766	->CTTGGTCT	Pathogenic	Coding sequence variant, frameshift variant
rs771427957	C>T	Pathogenic	Splice donor variant
rs772194378	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs780246932	C>A,G,T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs780656375	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs786200874	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs786204723	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs886041476	->G	Pathogenic	Frameshift variant, coding sequence variant
rs926661627	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057516259	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516329	CAGGTAGTAGA>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1057516349	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516468	A>C	Likely-pathogenic	Splice donor variant
rs1057516598	C>T	Likely-pathogenic	Splice acceptor variant
rs1057516612	CTCC>TCA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516629	A>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1057517067	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517145	G>C	Likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs1057517361	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057517400	TTGC>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1057517442	C>G	Likely-pathogenic	Splice donor variant
rs1064797157	T>A	Likely-pathogenic	Splice acceptor variant
rs1085307918	C>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1085308021	C>T	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1131691807	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1163710370	C>A	Likely-pathogenic	Splice acceptor variant
rs1212333772	T>C	Likely-pathogenic	Splice acceptor variant
rs1325298827	AGT>-,AGTAGT	Pathogenic, uncertain-significance	Coding sequence variant, inframe insertion, inframe deletion
rs1474863903	C>T	Pathogenic	Intron variant
rs1489442842	->A	Likely-pathogenic	Splice donor variant
rs1555136208	C>T	Likely-pathogenic	Splice donor variant
rs1555136390	->A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1555136459	C>A	Likely-pathogenic	Coding sequence variant, intron variant, stop gained
rs1555136540	AA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1555136752	GC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1565538121	CGTTGCCCAGCCCC>-	Uncertain-significance, pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1592408302	GG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1592409631	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1592409633	GAG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1592410003	T>A	Pathogenic	Coding sequence variant, stop gained
rs1592412131	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT017225	hsa-miR-335-5p	Microarray	18185580

Show/Hide all(23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004645	Function	1,4-alpha-oligoglucan phosphorylase activity	IEA
GO:0005515	Function	Protein binding	IPI	24722188, 25416956, 31515488, 32296183, 33961781, 36217029
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0005977	Process	Glycogen metabolic process	IEA
GO:0005977	Process	Glycogen metabolic process	TAS	9633816
GO:0005980	Process	Glycogen catabolic process	IBA
GO:0005980	Process	Glycogen catabolic process	IDA	1150650
GO:0005980	Process	Glycogen catabolic process	IEA
GO:0005980	Process	Glycogen catabolic process	IMP	8316268
GO:0008184	Function	Glycogen phosphorylase activity	IBA
GO:0008184	Function	Glycogen phosphorylase activity	IDA	1150650
GO:0008184	Function	Glycogen phosphorylase activity	IEA
GO:0008184	Function	Glycogen phosphorylase activity	IMP	8316268
GO:0008184	Function	Glycogen phosphorylase activity	TAS	9633816
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0030170	Function	Pyridoxal phosphate binding	IBA
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
608455	9726	ENSG00000068976

Protein

UniProt ID

P11217

Protein name

Glycogen phosphorylase, muscle form (EC 2.4.1.1) (Myophosphorylase)

Protein function

Allosteric enzyme that catalyzes the rate-limiting step in glycogen catabolism, the phosphorolytic cleavage of glycogen to produce glucose-1-phosphate, and plays a central role in maintaining cellular and organismal glucose homeostasis. {ECO:000

PDB

1Z8D

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00343	Phosphorylase	113 → 828	Carbohydrate phosphorylase	Family

Sequence

MSRPLSDQEKRKQISVRGLAGVENVTELKKNFNRHLHFTLVKDRNVATPRDYYFALAHTV
RDHLVGRWIRTQQHYYEKDPKRIYYLSLEFYMGRTLQNTMVNLALENACDEATYQLGLDM
EELEEIEEDAGLGNGGLGRLAACFLDSMATLGLAAYGYGIRYEFGIFNQKISGGWQMEEA
DDWLRYGNPWEKARPEFTLPVHFYGHVEHTSQGAKWVDTQVVLAMPYDTPVPGYRNNVVN
TMRLWSAKAPNDFNLKDFNVGGYIQAVLDRNLAENISRVLYPNDNFFEGKELRLKQEYFV
VAATLQDIIRRFKSSKFGCRDPVRTNFDAFPDKVAIQLNDTHPSLAIPELMRILVDLERM
DWDKAWDVTVRTCAYTNHTVLPEALERWPVHLLETLLPRHLQIIYEINQRFLNRVAAAFP
GDVDRLRRMSLVEEGAVKRINMAHLCIAGSHAVNGVARIHSEILKKTIFKDFYELEPHKF
QNKTNGITPRRWLVLCNPGLAEVIAERIGEDFISDLDQLRKLLSFVDDEAFIRDVAKVKQ
ENKLKFAAYLEREYKVHINPNSLFDIQVKRIHEYKRQLLNCLHVITLYNRIKREPNKFFV
PRTVMIGGKAAPGYHMAKMIIRLVTAIGDVVNHDPAVGDRLRVIFLENYRVSLAEKVIPA
ADLSEQISTAGTEASGTGNMKFMLNGALTIGTMDGANVEMAEEAGEENFFIFGMRVEDVD
KLDQRGYNAQEYYDRIPELRQVIEQLSSGFFSPKQPDLFKDIVNMLMHHDRFKVFADYED
YIKCQEKVSALYKNPREWTRMVIRNIATSGKFSSDRTIAQYAREIWGVEPSRQRLPAPDE
AI

Sequence length

842

Interactions

View interactions

	KEGG		Reactome
	Starch and sucrose metabolism Metabolic pathways Necroptosis Insulin signaling pathway Glucagon signaling pathway Insulin resistance		Glycogen breakdown (glycogenolysis)

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Glycogen Storage Disease	Glycogen storage disease, type V	rs1057517067, rs116987552, rs750857876, rs752851284, rs119103259, rs1212333772, rs1262967083, rs143670942, rs267606993, rs1057516598, rs119103251, rs1555136459, rs1057516329, rs119103260, rs1592408302 View all (72 more)	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Myopathy	myopathy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acute Kidney Injury	Associate	30900170
Camptocormia	Associate	39375813
Down Syndrome	Associate	15716609
Dysferlinopathy	Associate	39350328
Glycogen Storage Disease Type V	Associate	10063833, 10362816, 10382911, 10450796, 20957198, 22234204, 25045239, 25741863, 26913921, 27899787, 28925366, 28967462, 29143597, 29371640, 29391358 View all (16 more)
Multiple Endocrine Neoplasia Type 1	Associate	11549605
Muscle Weakness	Associate	29143597, 39375813
Muscular Diseases	Associate	39375813
Myopathy with Lactic Acidosis Hereditary	Associate	29143597
Pituitary Neoplasms	Associate	10389976
Rhabdomyolysis	Associate	30900170, 32978841
Squamous Cell Carcinoma of Head and Neck	Inhibit	31324732
Vitelliform Macular Dystrophy	Associate	7977378

PYGM (glycogen phosphorylase, muscle associated)