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]
Transcription factors with Perturb-seq knockdown data for GM2A. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = GM2A upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of GM2A, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr5:151,002,371–151,003,402 | 250.3 kb | Distal (>10kb) Multiome | 132 | |
| chr5:151,020,249–151,021,200 | 232.6 kb | Distal (>10kb) Multiome | 522 | |
| chr5:151,080,524–151,081,640 | 172.2 kb | Distal (>10kb) Multiome | 916 | |
| chr5:151,157,085–151,158,664 | 95.4 kb | Distal (>10kb) Multiome | 760 | |
| chr5:151,223,077–151,224,282 | 29.2 kb | Distal (>10kb) Multiome | 662 | |
| chr5:151,252,199–151,253,942 | 224 bp | At TSS Multiome | 746 | |
| chr5:151,348,447–151,349,638 | 95.8 kb | Distal (>10kb) Multiome | 138 | |
| chr5:151,405,271–151,406,618 | 152.4 kb | Distal (>10kb) Multiome | 175 | |
| chr5:151,447,360–151,448,441 | 194.4 kb | Distal (>10kb) Multiome | 900 | |
| chr5:151,496,053–151,496,694 | 243.1 kb | Distal (>10kb) Multiome | 64 | |
| chr5:151,500,606–151,501,090 | 247.7 kb | Distal (>10kb) Multiome | 332 |
Genomic view of the GM2A locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.