The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
Transcription factors with Perturb-seq knockdown data for CA2. 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 = CA2 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 CA2, 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 |
|---|---|---|---|---|
| chr8:85,176,569–85,178,114 | 286.7 kb | Distal (>10kb) Multiome | 922 | |
| chr8:85,219,878–85,221,874 | 243.5 kb | Distal (>10kb) Multiome | 895 | |
| chr8:85,244,896–85,246,268 | 218.3 kb | Distal (>10kb) Multiome | 796 | |
| chr8:85,461,547–85,462,288 | 1.7 kb | Proximal (<10kb) | 154 | |
| chr8:85,463,010–85,465,876 | 193 bp | At TSS Multiome | 649 | |
| chr8:85,466,062–85,466,452 | 2.1 kb | Proximal (<10kb) | 16 | |
| chr8:85,467,833–85,468,325 | 3.8 kb | Proximal (<10kb) | 50 |
Genomic view of the CA2 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.