This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for ANKH. 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 = ANKH 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 ANKH, 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 |
|---|---|---|---|---|
| chr5:14,581,121–14,582,834 | 290.0 kb | Distal (>10kb) Multiome | 552 | |
| chr5:14,663,826–14,665,619 | 207.2 kb | Distal (>10kb) Multiome | 997 | |
| chr5:14,727,409–14,729,005 | 143.2 kb | Distal (>10kb) Multiome HiCAR | 628 | |
| chr5:14,871,212–14,873,334 | 132 bp | At TSS Multiome | 600 | |
| chr5:15,026,636–15,027,684 | 155.4 kb | Distal (>10kb) Multiome | 218 |
Genomic view of the ANKH 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.