The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009]
Transcription factors with Perturb-seq knockdown data for ATP6V0A2. 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 = ATP6V0A2 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 ATP6V0A2, 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 |
|---|---|---|---|---|
| chr12:123,436,072–123,436,895 | 275.7 kb | Distal (>10kb) Multiome | 742 | |
| chr12:123,458,045–123,458,697 | 253.9 kb | Distal (>10kb) Multiome | 925 | |
| chr12:123,533,444–123,534,540 | 178.4 kb | Distal (>10kb) Multiome | 718 | |
| chr12:123,583,890–123,585,003 | 127.9 kb | Distal (>10kb) Multiome | 928 | |
| chr12:123,601,617–123,602,401 | 110.3 kb | Distal (>10kb) Multiome | 1076 | |
| chr12:123,633,273–123,633,970 | 78.6 kb | Distal (>10kb) Multiome | 886 | |
| chr12:123,670,899–123,671,414 | 41.3 kb | Distal (>10kb) Multiome | 469 | |
| chr12:123,711,684–123,712,955 | 85 bp | At TSS Multiome | 771 | |
| chr12:123,719,176–123,720,140 | 7.3 kb | Proximal (<10kb) Multiome | 303 | |
| chr12:123,761,832–123,763,058 | 49.7 kb | Distal (>10kb) Multiome | 416 | |
| chr12:123,971,679–123,974,128 | 260.6 kb | Distal (>10kb) Multiome | 756 | |
| chr12:123,995,003–123,996,059 | 283.1 kb | Distal (>10kb) Multiome | 68 |
Genomic view of the ATP6V0A2 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.