GM2A (GM2 ganglioside activator)

2017-04-01  

Identity

HGNC
LOCATION
5q33.1
LOCUSID
ALIAS
GM2-AP,SAP-3
FUSION GENES

Other Information

Locus ID:

NCBI: 2760
MIM: 613109
HGNC: 4367
Ensembl: ENSG00000196743

Variants:

dbSNP: 2760
ClinVar: 2760
TCGA: ENSG00000196743
COSMIC: GM2A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196743ENST00000357164P17900
ENSG00000196743ENST00000523004H0YBY3
ENSG00000196743ENST00000523466E5RJD0

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Glycosphingolipid metabolismREACTOMER-HSA-1660662
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
172152492007Ganglioside GM2-tetraspanin CD82 complex inhibits met and its cross-talk with integrins, providing a basis for control of cell motility through glycosynapse.51
129090212003Structural analysis of lipid complexes of GM2-activator protein.29
271572702016Neuronal sphingolipidoses: Membrane lipids and sphingolipid activator proteins regulate lysosomal sphingolipid catabolism.13
261754732015Membrane lipids regulate ganglioside GM2 catabolism and GM2 activator protein activity.12
147286892004Photoaffinity labelling of the human GM2-activator protein. Mechanistic insight into ganglioside GM2 degradation.10
154856602004An alpha-subunit loop structure is required for GM2 activator protein binding by beta-hexosaminidase A.7
270024802016Identification of ganglioside GM2 activator playing a role in cancer cell migration through proteomic analysis of breast cancer secretomes.6
258160112015Association of neonatal necrotizing enterocolitis with myeloid differentiation-2 and GM2 activator protein genetic polymorphisms.5
125765162003Effect of GM2 activator protein on the enzymatic hydrolysis of phospholipids and sphingomyelin.4

Citation

Dessen P

GM2A (GM2 ganglioside activator)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56880/gm2a