The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for CLCN7. 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 = CLCN7 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 CLCN7, 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 |
|---|---|---|---|---|
| chr16:1,300,823–1,301,358 | 174.0 kb | Distal (>10kb) Multiome | 419 | |
| chr16:1,308,686–1,309,923 | 165.8 kb | Distal (>10kb) Multiome | 953 | |
| chr16:1,331,603–1,332,817 | 143.0 kb | Distal (>10kb) Multiome | 492 | |
| chr16:1,333,312–1,334,056 | 141.4 kb | Distal (>10kb) Multiome | 271 | |
| chr16:1,342,604–1,343,805 | 131.8 kb | Distal (>10kb) Multiome | 560 | |
| chr16:1,351,418–1,352,242 | 123.1 kb | Distal (>10kb) Multiome | 733 | |
| chr16:1,378,844–1,380,439 | 95.3 kb | Distal (>10kb) Multiome | 782 | |
| chr16:1,408,010–1,408,819 | 66.7 kb | Distal (>10kb) Multiome | 546 | |
| chr16:1,413,643–1,415,278 | 60.2 kb | Distal (>10kb) Multiome | 661 | |
| chr16:1,420,269–1,421,402 | 54.1 kb | Distal (>10kb) Multiome | 897 | |
| chr16:1,474,566–1,475,411 | 57 bp | At TSS Multiome | 915 | |
| chr16:1,492,797–1,493,962 | 18.3 kb | Distal (>10kb) Multiome | 710 | |
| chr16:1,610,035–1,611,264 | 135.6 kb | Distal (>10kb) Multiome | 745 | |
| chr16:1,611,870–1,612,834 | 137.2 kb | Distal (>10kb) Multiome | 718 | |
| chr16:1,677,899–1,679,024 | 203.2 kb | Distal (>10kb) Multiome | 709 | |
| chr16:1,705,380–1,706,702 | 231.1 kb | Distal (>10kb) Multiome | 933 | |
| chr16:1,763,511–1,764,353 | 289.0 kb | Distal (>10kb) Multiome | 261 | |
| chr16:1,770,847–1,771,973 | 296.6 kb | Distal (>10kb) Multiome | 485 | |
| chr16:1,772,565–1,774,049 | 298.4 kb | Distal (>10kb) Multiome | 956 |
Genomic view of the CLCN7 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.