Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5834
Gene name Gene Name - the full gene name approved by the HGNC.
Glycogen phosphorylase B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PYGB
Synonyms (NCBI Gene) Gene synonyms aliases
GPBB
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p11.21
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzym
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs201805961 A>G Likely-pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017293 hsa-miR-335-5p Microarray 18185580
MIRT023564 hsa-miR-1-3p Proteomics 18668040
MIRT025360 hsa-miR-34a-5p Proteomics 21566225
MIRT031538 hsa-miR-16-5p Proteomics 18668040
MIRT050597 hsa-miR-20a-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 25910212, 32296183
GO:0005576 Component Extracellular region TAS
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005737 Component Cytoplasm IDA 10638593
GO:0005980 Process Glycogen catabolic process IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
138550 9723 ENSG00000100994
Protein
UniProt ID P11216
Protein name Glycogen phosphorylase, brain form (EC 2.4.1.1)
Protein function Glycogen phosphorylase that regulates glycogen mobilization (PubMed:27402852). Phosphorylase is an important allosteric enzyme in carbohydrate metabolism (PubMed:3346228). Enzymes from different sources differ in their regulatory mechanisms and
PDB 5IKO , 5IKP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00343 Phosphorylase 113 828 Carbohydrate phosphorylase Family
Sequence
MAKPLTDSEKRKQISVRGLAGLGDVAEVRKSFNRHLHFTLVKDRNVATPRDYFFALAHTV
RDHLVGRWIRTQQHYYERDPKRIYYLSLEFYMGRTLQNTMVNLGLQNACDEAIYQLGLDL
EELEEIEEDAGLGNGGLGRLAACFLDSMATLGLAAYGYGIRYEFGIFNQKIVNGWQVEEA
DDWLRYGNPWEKARPEYMLPVHFYGRVEHTPDGVKWLDTQVVLAMPYDTPVPGYKNNTVN
TMRLWSAKAPNDFKLQDFNVGDYIEAVLDRNLAENISRVLYPNDNFFEGKELRLKQEYFV
VAATLQDIIRRFKSSKFGCRDPVRTCFETFPDKVAIQLNDTHPALSIPELMRILVDVEKV
DWDKAWEITKKTCAYTNHTVLPEALERWPVSMFEKLLPRHLEIIYAINQRHLDHVAALFP
GDVDRLRRMSVIEEGDCKRINMAHLCVIGSHAVNGVARIHSEIVKQSVFKDFYELEPEKF
QNKTNGITPRRWLLLCNPGLADTIVEKIGEEFLTDLSQLKKLLPLVSDEVFIRDVAKVKQ
ENKLKFSAFLEKEYKVKINPSSMFDVHVKRIHEYKRQLLNCLHVVTLYNRIKRDPAKAFV
PRTVMIGGKAAPGYHMAKLIIKLVTSIGDVVNHDPVVGDRLKVIFLENYRVSLAEKVIPA
ADLSQQISTAGTEASGTGNMKFMLNGALTIGTMDGANVEMAEEAGAENLFIFGLRVEDVE
ALDRKGYNAREYYDHLPELKQAVDQISSGFFSPKEPDCFKDIVNMLMHHDRFKVFADYEA
YMQCQAQVDQLYRNPKEWTKKVIRNIACSGKFSSDRTITEYAREIWGV
EPSDLQIPPPNI
PRD
Sequence length 843
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Starch and sucrose metabolism
Metabolic pathways
Necroptosis
Insulin signaling pathway
Glucagon signaling pathway
Insulin resistance
  Neutrophil degranulation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Adenocarcinoma Adenoid Cystic Carcinoma rs121913530, rs886039394, rs121913474 16762588
Unknown
Disease term Disease name Evidence References Source
Prostate cancer Prostate cancer Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 22215716
Breast Neoplasms Associate 31536495
Carcinogenesis Stimulate 33336613
Carcinoma Non Small Cell Lung Associate 33336613
Diabetes Mellitus Type 2 Associate 29188820
Glioblastoma Associate 35897773
Hypoxia Brain Associate 31536495
Insulin Resistance Associate 29188820
Myocardial Ischemia Associate 22215716
Neoplasm Metastasis Associate 31536495