This gene encodes a member of the EF-hand super family of calcium binding proteins, which are involved in a variety of cellular processes including mitosis, synaptic transmission, and cytoskeletal rearrangement. The protein encoded by this gene is composed of an N-terminal disordered region, proline-rich elements, two EF-hands, and a C-terminal coiled-coil domain. This protein has been shown to associate with the mitochondrial inner membrane, and in HeLa cells, acts as a novel mitochondrial calcium ion sensor for mitochondrial flash activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
Transcription factors with Perturb-seq knockdown data for EFHD1. 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 = EFHD1 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 EFHD1, 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 |
|---|---|---|---|---|
| chr2:232,366,715–232,368,180 | 238.3 kb | Distal (>10kb) Multiome | 141 | |
| chr2:232,404,400–232,405,216 | 201.3 kb | Distal (>10kb) Multiome | 92 | |
| chr2:232,420,461–232,421,549 | 185.1 kb | Distal (>10kb) Multiome | 314 | |
| chr2:232,423,141–232,423,928 | 182.5 kb | Distal (>10kb) Multiome | 59 | |
| chr2:232,487,095–232,488,614 | 118.1 kb | Distal (>10kb) Multiome | 195 | |
| chr2:232,502,853–232,503,842 | 102.8 kb | Distal (>10kb) Multiome | 267 | |
| chr2:232,521,933–232,522,564 | 83.8 kb | Distal (>10kb) Multiome | 295 | |
| chr2:232,523,649–232,524,530 | 81.8 kb | Distal (>10kb) Multiome | 409 | |
| chr2:232,550,181–232,551,341 | 55.4 kb | Distal (>10kb) Multiome | 1139 | |
| chr2:232,605,843–232,606,606 | 119 bp | At TSS Multiome | 604 | |
| chr2:232,611,720–232,611,892 | 5.7 kb | Proximal (<10kb) | 334 | |
| chr2:232,633,106–232,634,804 | 27.5 kb | Distal (>10kb) Multiome | 747 | |
| chr2:232,696,754–232,698,213 | 91.2 kb | Distal (>10kb) Multiome | 927 | |
| chr2:232,875,994–232,877,248 | 270.5 kb | Distal (>10kb) Multiome | 488 | |
| chr2:232,927,461–232,929,198 | 322.2 kb | Distal (>10kb) Multiome | 215 |
Genomic view of the EFHD1 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.