Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2760
MIM: 613109
HGNC: 4367
Ensembl: ENSG00000196743
Variants:
dbSNP: 2760
ClinVar: 2760
TCGA: ENSG00000196743
COSMIC: GM2A
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000196743 | ENST00000357164 | P17900 |
| ENSG00000196743 | ENST00000523004 | H0YBY3 |
| ENSG00000196743 | ENST00000523466 | E5RJD0 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33819415 | 2021 | Two patients from Turkey with a novel variant in the GM2A gene and review of the literature. | 4 |
| 33819415 | 2021 | Two patients from Turkey with a novel variant in the GM2A gene and review of the literature. | 4 |
| 31578452 | 2019 | GM2-GM3 gangliosides ratio is dependent on GRP94 through down-regulation of GM2-AP cofactor in brain metastasis cells. | 3 |
| 31578452 | 2019 | GM2-GM3 gangliosides ratio is dependent on GRP94 through down-regulation of GM2-AP cofactor in brain metastasis cells. | 3 |
| 27002480 | 2016 | Identification of ganglioside GM2 activator playing a role in cancer cell migration through proteomic analysis of breast cancer secretomes. | 16 |
| 27157270 | 2016 | Neuronal sphingolipidoses: Membrane lipids and sphingolipid activator proteins regulate lysosomal sphingolipid catabolism. | 20 |
| 27402091 | 2016 | GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review. | 13 |
| 27002480 | 2016 | Identification of ganglioside GM2 activator playing a role in cancer cell migration through proteomic analysis of breast cancer secretomes. | 16 |
| 27157270 | 2016 | Neuronal sphingolipidoses: Membrane lipids and sphingolipid activator proteins regulate lysosomal sphingolipid catabolism. | 20 |
| 27402091 | 2016 | GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review. | 13 |
| 25816011 | 2015 | Association of neonatal necrotizing enterocolitis with myeloid differentiation-2 and GM2 activator protein genetic polymorphisms. | 10 |
| 26175473 | 2015 | Membrane lipids regulate ganglioside GM2 catabolism and GM2 activator protein activity. | 17 |
| 25816011 | 2015 | Association of neonatal necrotizing enterocolitis with myeloid differentiation-2 and GM2 activator protein genetic polymorphisms. | 10 |
| 26175473 | 2015 | Membrane lipids regulate ganglioside GM2 catabolism and GM2 activator protein activity. | 17 |
| 23483939 | 2013 | In cellulo examination of a beta-alpha hybrid construct of beta-hexosaminidase A subunits, reported to interact with the GM2 activator protein and hydrolyze GM2 ganglioside. | 6 |
Citation
Dessen P
GM2A (GM2 ganglioside activator)
Atlas Genet Cytogenet Oncol Haematol. 2017-04-01
Online version: http://atlasgeneticsoncology.org/gene/56880/gm2a-(gm2-ganglioside-activator)
