This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Transcription factors with Perturb-seq knockdown data for EVC2. 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 = EVC2 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 EVC2, 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 |
|---|---|---|---|---|
| chr4:5,708,091–5,709,158 | 12 bp | At TSS Multiome | 229 | |
| chr4:5,710,664–5,711,897 | 2.6 kb | Proximal (<10kb) Multiome | 434 | |
| chr4:5,716,414–5,716,835 | 7.9 kb | Proximal (<10kb) | 12 | |
| chr4:5,752,263–5,752,750 | 43.9 kb | Distal (>10kb) Multiome | 96 | |
| chr4:5,773,961–5,774,962 | 65.9 kb | Distal (>10kb) Multiome | 167 | |
| chr4:5,887,203–5,888,961 | 180.0 kb | Distal (>10kb) Multiome | 278 | |
| chr4:5,889,712–5,890,892 | 181.7 kb | Distal (>10kb) Multiome | 239 | |
| chr4:5,892,257–5,893,532 | 184.6 kb | Distal (>10kb) Multiome | 170 | |
| chr4:5,943,556–5,944,317 | 235.3 kb | Distal (>10kb) Multiome | 79 |
Genomic view of the EVC2 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.