Basic information

Full name
GM2 ganglioside activator
Ensembl
ENSG00000196743.9
Summary
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]

Protein product

  • ENST00000357164.4 Primary ENSP00000349687.3 (0 phosphosite)
Phosphosites on the primary protein product
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Tumor and normal comparison

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Signed p-values
Data type
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
RNA1.6e-8-2.5e-29--0.0370.01-0.01--0.49-
protein-0.57--4.1e-30-1.3e-3-1.6e-50.38-0.320.29-0.974.0e-6

* P-values are from Wilcoxon rank sum test and can be clicked to show the box plots. Positive values mean higher abundance in tumor. BRCA and GBM do not have normal samples.

mRNA expression at gene level
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC99.51010.51111.51212.51313.51414.515log2(RSEM+1)tumornormal
Protein expression
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC22.52323.52424.52525.52626.52727.52828.52929.5log2(MS1 intensity)tumornormal

* Mild outlier: filled circle; Extreme outlier: empty circle.

Phenotype and mutation association

Manhattan plot summarizing associations of phenotypes and mutations across all cohorts and omics data types

BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC0246810121416182022240-2-4-6-8-10-12-14-16-18-20-22-24Pan-cancer01020304050607080901001100-10-20-30-40-50-60-70-80-90-100-110proteinRNASCNVclinicalpathwaycell typegenomicmutation-log10 of P-value

* Data points of significant associations above and below the dotted lines can be hovered to show the phenotype.

Associations of the protein abundance of GM2A with phenotypes and mutations

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Signed p-values
Phenotype
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
xcell: Macrophage M21.8e-160.0520.11.3e-37.9e-50.120.0542.7e-60.141.3e-30.014
xcell: Macrophage1.1e-120.0379.5e-30.0181.4e-30.314.5e-30.0010.160.170.017
xcell: microenvironment score2.3e-112.5e-30.0151.3e-40.0060.40.0891.3e-3-0.530.0870.024
xcell: immune score2.8e-110.130.325.3e-45.3e-30.0789.6e-38.1e-40.580.244.1e-3
ESTIMATE: ESTIMATEScore1.1e-104.1e-30.0681.5e-43.5e-30.250.180.0410.910.134.6e-3
HALLMARK_COMPLEMENT4.4e-90.070.0546.5e-42.8e-30.0170.0910.230.930.460.021
ESTIMATE: ImmuneScore5.1e-90.0590.43.4e-46.9e-30.190.0340.0220.810.47.7e-3
HALLMARK_COAGULATION1.3e-82.6e-40.0190.0680.042.9e-30.40.058-0.690.0490.41
ESTIMATE: StromalScore2.4e-81.1e-30.0316.3e-42.6e-30.440.690.072-0.560.120.065
xcell: Mast cell6.1e-80.180.280.320.350.0240.0156.3e-40.610.110.011
Showing 1 to 10 of 256 rows

* P-values could be from test for Spearman correlation, Wilcoxon rank sum test, Jonckheere-Terpstra trend test or Cox regression depending on the data type. P-values for individual cohorts can be clicked to show the data plots. The matrix icons in each row can be clicked to show a heatmap summary of associations across all cohorts and omics. The rows in the table can be expanded to show results from other omics.

Cis-association

Associations between omics data of GM2A

BRCA0.460.250.10proteinmRNASCNVmethylationCCRCC0.260.11-0.050.040.380.23proteinmRNASCNVmethylationCOAD0.300.160.36proteinmRNASCNVmethylationGBM0.530.050.020.07-0.07-0.13proteinmRNASCNVmethylationHNSCC0.78-0.060.22-0.170.480.02proteinmRNASCNVmethylationLSCC0.720.040.230.060.46-0.01proteinmRNASCNVmethylationLUAD0.410.040.12-0.130.210.05proteinmRNASCNVmethylationOV0.480.180.29proteinmRNASCNVmethylationPDAC0.31-0.060.10-0.27-0.000.00proteinmRNASCNVmethylationUCEC0.49-0.050.210.160.120.07proteinmRNASCNVmethylation

* The numbers are Spearman correlation coefficients and can be clicked to show the scatter plots. The color and size of the circles correlate with the coefficients.

Trans-association

Associations of the protein abundance of GM2A and the protein abundance of other genes

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Signed p-values
Gene
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
No matching records found

* P-values are from test for Spearman correlation. P-values for individual cohorts can be clicked to show the data plots. The matrix icons in each row can be clicked to show a heatmap summary of associations across all cohorts and omics. The rows in the table can be expanded to show results from other omics.

Gene set enrichment analysis

Submit genes and the common logarithm of the p-values of their association with to WebGestalt.