The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. This gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. Mutations in this gene have been associated with Cole-Carpenter syndrome, a disorder affecting bone formation, resulting in craniofacial malformations and bones that break easily. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Transcription factors with Perturb-seq knockdown data for SEC24D. 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 = SEC24D 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 SEC24D, 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 |
|---|---|---|---|---|
| chr4:118,591,329–118,592,247 | 244.4 kb | Distal (>10kb) Multiome | 545 | |
| chr4:118,684,929–118,685,940 | 150.7 kb | Distal (>10kb) Multiome | 728 | |
| chr4:118,834,995–118,836,932 | 48 bp | At TSS Multiome | 861 | |
| chr4:118,850,099–118,850,712 | 14.2 kb | Distal (>10kb) Multiome HiCAR | 189 | |
| chr4:118,888,513–118,889,224 | 52.8 kb | Distal (>10kb) Multiome HiCAR | 392 |
Genomic view of the SEC24D 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.