This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]
Transcription factors with Perturb-seq knockdown data for GJA1. 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 = GJA1 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 GJA1, 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 |
|---|---|---|---|---|
| chr6:121,334,181–121,335,319 | 101.0 kb | Distal (>10kb) Multiome | 867 | |
| chr6:121,430,562–121,431,591 | 4.1 kb | Proximal (<10kb) | 242 | |
| chr6:121,434,456–121,434,774 | 870 bp | At TSS | 29 | |
| chr6:121,435,369–121,435,844 | at TSS | At TSS | 201 | |
| chr6:121,436,542–121,436,818 | 897 bp | At TSS | 112 | |
| chr6:121,437,031–121,438,879 | 2.8 kb | Proximal (<10kb) Multiome | 450 | |
| chr6:121,439,609–121,439,763 | 4.0 kb | Proximal (<10kb) | 18 | |
| chr6:121,445,221–121,445,579 | 9.6 kb | Proximal (<10kb) | 12 | |
| chr6:121,491,310–121,492,109 | 56.0 kb | Distal (>10kb) Multiome | 109 | |
| chr6:121,579,372–121,580,181 | 144.2 kb | Distal (>10kb) Multiome | 50 | |
| chr6:121,618,730–121,619,458 | 183.5 kb | Distal (>10kb) Multiome HiCAR | 120 | |
| chr6:121,619,683–121,621,034 | 184.8 kb | Distal (>10kb) Multiome HiCAR | 184 | |
| chr6:121,823,113–121,823,886 | 387.9 kb | Distal (>10kb) Multiome HiCAR | 251 |
Genomic view of the GJA1 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.