Gene table of GM2A : GM2 ganglioside activator

Gene-disease associations table

Disease ID	Disease name	Source of annotation with GM2A	OMIM link	Number of associated genes	genes
272750	GM2-GANGLIOSIDOSIS, AB VARIANT	OMIM, HUMSAVAR	link to OMIM	1	GM2A

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Lysosome	hsa04142	5.78

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Metabolism of lipids and lipoproteins	R-HSA-556833	3.79
Metabolism	R-HSA-1430728	2.34
Glycosphingolipid metabolism	R-HSA-1660662	7.62
Sphingolipid metabolism	R-HSA-428157	6.79

Associated GO terms for Molecular function

GO term	GO ID	GO IC
lipid transporter activity	GO:0005319	5.03
hydrolase activity	GO:0016787	1.9
substrate-specific transporter activity	GO:0022892	2.72
beta-N-acetylgalactosaminidase activity	GO:0032428	9.74
enzyme regulator activity	GO:0030234	2.85
hydrolase activity, acting on glycosyl bonds	GO:0016798	4.91
transporter activity	GO:0005215	2.57
catalytic activity	GO:0003824	1.05
beta-N-acetylhexosaminidase activity	GO:0004563	8.13
hexosaminidase activity	GO:0015929	7.03
phospholipase activator activity	GO:0016004	7.25
hydrolase activity, hydrolyzing O-glycosyl compounds	GO:0004553	5.14
sphingolipid activator protein activity	GO:0030290	9.74
molecular function regulator	GO:0098772	2.51
lipase activator activity	GO:0060229	7.1
enzyme activator activity	GO:0008047	3.56