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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. PYGM, phosphorylase, glycogen, muscle
Sequence ID:NM_001164716
NM_005609
RefSeqGene ID:NG_013018
Entrez Gene ID:5837
Ensembl ID:ENSG00000068976

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
MCARDLE DISEASE 

Cytogenetic Location (from UniGene)

Cytogenetic Location:11q12-q13.2Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:11: 64514127 - 64527370

 Exon Info From UCSC:
NM_001164716
NM_005609

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
8992108Full LengthBC126392phosphorylase, glycogen, muscle
40146545Full LengthBC130514phosphorylase, glycogen, muscle

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_005600  

Protein Infomation

RefSeq
mRNAProteinSwissProtEnzymePfam
NM_001164716 NP_001158188      
NM_005609 NP_005600 P11217 EC 2.4.1.1 Phosphorylase

Related Sequences

 
mRNAGenPeptSwissProtEnzyme
M16013 AAA36216 P11217 EC 2.4.1.1
AF066859 AAC17451 P11217 EC 2.4.1.1
BC126392 AAI26393 P11217 EC 2.4.1.1
BC130514 AAI30515 P11217 EC 2.4.1.1
HQ258678 ADR83429    
AK314474 BAG37079 B2RB32  
AK056607 BAG51762 P11217 EC 2.4.1.1
AK299376 BAG61366 B4DRQ4  
AK299461 BAG61428 B4DRW6  
X03031 CAA26834 P11217 EC 2.4.1.1

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens PYGM NP_005600 M.musculus Pygm 19309 Gene Info NP_035354 97
R.norvegicus Pygm 24701   NP_036770 97
A.gambiae AgaP_AGAP007939 1278016   XP_317541 73
D.melanogaster GlyP 33386   NP_001027219 73
C.elegans T22F3.3 178777   NP_504007 69
A.thaliana PHS2 823850   NP_190281 49

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)