Mus musculus Gene: Gm2a
Summary
InnateDB Gene IDBG-174816.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Gm2a
Gene Name GM2 ganglioside activator protein
Synonyms AA408702; AW215435; GM2-AP; SAP-3;
Species Mus musculus
Ensembl Gene ENSMUSG00000000594
Encoded Proteins
GM2 ganglioside activator protein
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 11:55098115-55113029
Strand Forward strand
Band B1.3
Transcripts
ENSMUST00000000608 ENSMUSP00000000608
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004563 beta-N-acetylhexosaminidase activity
GO:0005319 lipid transporter activity
GO:0008047 enzyme activator activity
GO:0016004 phospholipase activator activity
GO:0032428 beta-N-acetylgalactosaminidase activity
Biological Process
GO:0001573 ganglioside metabolic process
GO:0006689 ganglioside catabolic process
GO:0006869 lipid transport
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
GO:0051345 positive regulation of hydrolase activity
Cellular Component
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005764 lysosome
GO:0005889 hydrogen:potassium-exchanging ATPase complex
GO:0009898 cytoplasmic side of plasma membrane
GO:0045179 apical cortex
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Glycosphingolipid metabolism pathway
Metabolism pathway
Sphingolipid metabolism pathway
Metabolism of lipids and lipoproteins pathway
KEGG
Lysosome pathway
INOH
PID BIOCARTA
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Sphingolipid metabolism pathway
Metabolism of lipids and lipoproteins pathway
Glycosphingolipid metabolism pathway
Metabolism pathway
KEGG
Lysosome pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q60648
TrEMBL Q5F1Z8
UniProt Splice Variant
Entrez Gene 14667
UniGene Mm.287807 Mm.475162
RefSeq NM_010299
OMIM
CCDS CCDS24707
HPRD
IMGT
MGI ID MGI:95762
MGI Symbol Gm2a
EMBL AK152256 BC004651 CH466575 CT010289 L19526 U09816 U34356 U34357 U34358 U34359
GenPept AAA21543 AAA61929 AAB06275 AAH04651 BAE31075 CAJ18497 EDL33503
RNA Seq Atlas 14667