C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSDARG00000090714 gaa 7955 + 3:18142401-18164515 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSDART00000127796 gaa-201 18142401-18164333 protein_coding
  ENSDART00000144222 gaa-001 18154754-18164515 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; BrainHeartKidneyLiverMuscleENSDART00000127796ENSDART00000144222
Transcript ID Brain Heart Kidney Liver Muscle
ENSDART00000127796 0.375±0.32 0.752±0.54 0.340±0.04 N/A 0.185±0.00
ENSDART00000144222 0.902±0.15 1.668±0.43 0.489±0.23 0.230±0.00 N/A

Conserved Regions

Gene is not located within a conserved region.

Gene Ontology
GO IDEvidence TypeGO Description
GO:0003824 IEA catalytic activity
GO:0004553 IEA hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0005975 IEA carbohydrate metabolic process
GO:0030246 IEA carbohydrate binding

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSG00000171298 GAA glucosidase, alpha; acid protein_coding Homo_sapiens
ENSMUSG00000025579 Gaa glucosidase, alpha, acid protein_coding Mus_musculus

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