Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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5834 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Glycogen phosphorylase B |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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PYGB |
SynonymsGene synonyms aliases
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GPBB |
ChromosomeChromosome number
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20 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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20p11.21 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs201805961 |
A>G |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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 |
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Sequence |
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Sequence length |
843 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Myocardial ischemia |
Myocardial Ischemia |
|
16214533 |
Salivary gland neoplasm |
Salivary Gland Neoplasms |
|
16762588 |
Malignant neoplasm of salivary gland |
Malignant neoplasm of salivary gland |
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16762588 |
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