This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recessive spastic paraplegia 54. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Transcription factors with Perturb-seq knockdown data for DDHD2. 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 = DDHD2 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 DDHD2, 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 |
|---|---|---|---|---|
| chr8:37,965,216–37,966,371 | 265.9 kb | Distal (>10kb) Multiome | 177 | |
| chr8:38,015,136–38,015,926 | 216.1 kb | Distal (>10kb) Multiome | 59 | |
| chr8:38,029,913–38,031,249 | 201.1 kb | Distal (>10kb) Multiome | 948 | |
| chr8:38,066,984–38,067,582 | 164.4 kb | Distal (>10kb) Multiome | 414 | |
| chr8:38,070,928–38,072,232 | 159.9 kb | Distal (>10kb) Multiome | 282 | |
| chr8:38,104,797–38,106,255 | 125.9 kb | Distal (>10kb) Multiome | 954 | |
| chr8:38,108,727–38,109,662 | 122.5 kb | Distal (>10kb) Multiome | 83 | |
| chr8:38,175,948–38,177,501 | 54.9 kb | Distal (>10kb) Multiome | 870 | |
| chr8:38,230,935–38,232,445 | 2 bp | At TSS Multiome | 904 | |
| chr8:38,268,159–38,269,673 | 37.7 kb | Distal (>10kb) Multiome | 795 | |
| chr8:38,381,367–38,383,496 | 150.8 kb | Distal (>10kb) Multiome | 956 | |
| chr8:38,385,791–38,387,334 | 154.9 kb | Distal (>10kb) Multiome | 816 | |
| chr8:38,440,285–38,442,102 | 209.3 kb | Distal (>10kb) Multiome | 293 | |
| chr8:38,442,374–38,442,980 | 211.0 kb | Distal (>10kb) Multiome | 254 | |
| chr8:38,467,549–38,469,321 | 237.1 kb | Distal (>10kb) Multiome | 775 | |
| chr8:38,471,859–38,472,443 | 240.6 kb | Distal (>10kb) Multiome | 84 | |
| chr8:38,512,281–38,512,945 | 281.0 kb | Distal (>10kb) Multiome | 187 | |
| chr8:38,513,847–38,514,352 | 282.5 kb | Distal (>10kb) Multiome | 185 | |
| chr8:38,530,520–38,531,118 | 299.4 kb | Distal (>10kb) Multiome | 174 |
Genomic view of the DDHD2 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.