• Gene id: 2760

Gene Summary

• Gene Symbol: GM2A   Gene   UCSC   Ensembl
• Aliases: GM2-AP, SAP-3
• Gene name: GM2 ganglioside activator
• Alternate names: ganglioside GM2 activator, cerebroside sulfate activator protein, shingolipid activator protein 3, sphingolipid activator protein 3,
• Gene location: 5q33.1 (151253184: 151270439)     Exons: 4     NC_000005.10
• Gene summary(Entrez): 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 gangliosid
• OMIM: 613109

SNPs

rs10250822

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17293365C>A
NC_000007.14   g.17293365C>G
NC_000007.14   g.17293365C>T
NC_000007.13   g.17332989C>A
NC_000007.13   g.17332989C>G
NC_000007.13   g.17332989C>T|SEQ=[C/A/G/T]|GENE=LOC101927609

rs10247158

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17285544A>T
NC_000007.13   g.17325168A>T|SEQ=[A/T]|GENE=LOC101927609

rs10249788

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17298523C>G
NC_000007.14   g.17298523C>T
NC_000007.13   g.17338147C>G
NC_000007.13   g.17338147C>T
XR_927073.2   n.16G>C
XR_927073.2   n.16G>A|SEQ=[C/G/T]|GENE=AHR
LOC101927609   101927609

rs3757824

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17296411T>C
NC_000007.14   g.17296411T>G
NC_000007.13   g.17336035T>C
NC_000007.13   g.17336035T>G|SEQ=[T/C/G]|GENE=LOC101927609

Protein Summary

• Protein general information: P17900  
  • Name: Ganglioside GM2 activator (Cerebroside sulfate activator protein) (GM2 AP) (Sphingolipid activator protein 3) (SAP 3) [Cleaved into: Ganglioside GM2 activator isoform short]
  • Length: 193  
  • Mass: 20838
• Sequence:

  MQSLMQAPLLIALGLLLAAPAQAHLKKPSQLSSFSWDNCDEGKDPAVIRSLTLEPDPIIVPGNVTLSVMGSTSVP
  LSSPLKVDLVLEKEVAGLWIKIPCTDYIGSCTFEHFCDVLDMLIPTGEPCPEPLRTYGLPCHCPFKEGTYSLPKS
  EFVVPDLELPSWLTTGNYRIESVLSSSGKRLGCIKIAASLKGI

• Structural information:
  • Interpro: IPR028996  IPR036846  IPR003172  
  • PDB: 1G13 1PU5 1PUB 1TJJ 2AF9 2AG2 2AG4 2AG9
  • PDBsum: 1G13 1PU5 1PUB 1TJJ 2AF9 2AG2 2AG4 2AG9
  • STRING: ENSP00000349687
• Other Databases: GeneCards:  GM2A  Malacards:  GM2A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005319	lipid transporter activity	IBA	molecular function
GO:0006689	ganglioside catabolic process	IBA	biological process
GO:0009898	cytoplasmic side of plasma membrane	IBA	cellular component
GO:0006869	lipid transport	IBA	biological process
GO:0006689	ganglioside catabolic process	IEA	biological process
GO:0008047	enzyme activator activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0030290	sphingolipid activator protein activity	TAS	molecular function
GO:0035578	azurophil granule lumen	TAS	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0016004	phospholipase activator activity	IEA	molecular function
GO:0009898	cytoplasmic side of plasma membrane	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005319	lipid transporter activity	IEA	molecular function
GO:0001573	ganglioside metabolic process	IEA	biological process
GO:0050885	neuromuscular process controlling balance	IEA	biological process
GO:0050877	nervous system process	IEA	biological process
GO:0007611	learning or memory	IEA	biological process
GO:0006689	ganglioside catabolic process	IEA	biological process
GO:0004563	beta-N-acetylhexosaminidase activity	IEA	molecular function
GO:0051345	positive regulation of hydrolase activity	IEA	biological process
GO:0032428	beta-N-acetylgalactosaminidase activity	IEA	molecular function
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0019915	lipid storage	IEA	biological process
GO:0009313	oligosaccharide catabolic process	IEA	biological process
GO:0008047	enzyme activator activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome
hsa04142	Lysosome

Diseases

Associated diseases	References
Gangliosidosis	KEGG: H00426
GM2 gangliosidoses	KEGG: H00124
Important during development of acrosomal caps in the early spermatids	MIK: 29100724
GM2 gangliosidoses	KEGG:H00124
Gangliosidosis	KEGG:H00426
GM2 gangliosidoses	KEGG:H00124
Gangliosidosis	KEGG:H00426
GM2 gangliosidosis	PMID:10364519
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)