Gene Information |
Gene ID: | | 2548 |
Symbol: | | GAA |
Full Name: | | glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II) |
Alias: | | LYAG |
Organism: | | Homo sapiens (Human) |
Chromosome: | | 17 |
Genetic Location: | | 17q25.2-q25.3 |
Physical Location: | | 75689949-75708273 on NC_000017.9 |
Gene Type: | | protein-coding |
Orthologs: | | This gene has Mouse: 14387 ortholog(s) in other dataset(s). |
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Gene in Ethanol Study Datasets |
Gene Information | | Dataset Information | Name: | | Literature Search | Method: | | Literature search | Summary: | | We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive. |
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Gene Refseq Sequence Annotation |
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Gene Ontology (GO) Annotation |
GO ID | GO Term | Category | Evidence (PubMed) | |
GO:0005764 | lysosome | Cellular Component | IEA | |
GO:0004553 | hydrolase activity, hydrolyzing O-glycosyl compounds | Molecular Function | IEA | |
GO:0004558 | alpha-glucosidase activity | Molecular Function | IEA | |
GO:0005529 | sugar binding | Molecular Function | IC (9505277) | |
GO:0008152 | metabolic process | Biological Process | IEA | |
GO:0043181 | vacuolar sequestering | Biological Process | IMP (10931430) | |
GO:0043587 | tongue morphogenesis | Biological Process | IMP (10931430) | |
GO:0000023 | maltose metabolic process | Biological Process | IC (9505277) | |
GO:0055010 | ventricular cardiac muscle morphogenesis | Biological Process | IMP (10931430) | |
GO:0007517 | muscle development | Biological Process | IMP (7717400) | |
GO:0007040 | lysosome organization and biogenesis | Biological Process | IMP (7717400) | |
GO:0006006 | glucose metabolic process | Biological Process | IC (9505277) | |
GO:0005985 | sucrose metabolic process | Biological Process | IC (9505277) | |
GO:0005980 | glycogen catabolic process | Biological Process | IDA (9505277) | |
GO:0005975 | carbohydrate metabolic process | Biological Process | IEA | |
GO:0002086 | diaphragm contraction | Biological Process | IMP (16917947) | |
GO:0060048 | cardiac muscle contraction | Biological Process | IMP (10931430) | |
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Other Database Cross Links |
NCBI Entrez Gene: | | 2548 |
HGNC: | | 4065 |
Ensembl: | | ENSG00000171298 |
MIM: | | 606800 |
HPRD: | | 06006 |
HuGE Navigator: | | 2548 |
dbSNP: | | GAA |
GeneCard: | | GAA |
AceView: | | GAA |