Bos taurus Gene: GM2A
Summary
InnateDB Gene IDBG-646327.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GM2A
Gene Name ganglioside GM2 activator precursor
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000021829
Encoded Proteins
GM2 ganglioside activator
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000196743:
This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:64499096-64511547
Strand Forward strand
Band
Transcripts
ENSBTAT00000029099 ENSBTAP00000029099
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004563 beta-N-acetylhexosaminidase activity
GO:0008047 enzyme activator activity
Biological Process
GO:0006689 ganglioside catabolic process
GO:0007611 learning or memory
GO:0009313 oligosaccharide catabolic process
GO:0019915 lipid storage
GO:0050877 neurological system process
GO:0050885 neuromuscular process controlling balance
Cellular Component
GO:0005739 mitochondrion
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Glycosphingolipid metabolism pathway
Sphingolipid metabolism pathway
Metabolism of lipids and lipoproteins pathway
Metabolism pathway
Glycosphingolipid metabolism pathway
Metabolism pathway
Sphingolipid metabolism pathway
Metabolism of lipids and lipoproteins pathway
KEGG
Lysosome pathway
Lysosome pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL E1BI28
UniProt Splice Variant
Entrez Gene 504524
UniGene Bt.1539
RefSeq NM_001205547
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL DAAA02020640
GenPept
RNA Seq Atlas 504524