This gene encodes a protein that is a component of the dynein-2 microtubule motor protein complex that plays a role in the retrograde transport of cargo in primary cilia via the intraflagellar transport system. This gene is ubiquitously expressed and its protein, which localizes to the axoneme and Golgi apparatus, interacts directly with the cytoplasmic dynein 2 heavy chain 1 protein to form part of the multi-protein dynein-2 complex. Mutations in this gene produce defects in the dynein-2 complex which result in several types of ciliopathy including short-rib thoracic dysplasia 15 with polydactyly (SRTD15). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]
Transcription factors with Perturb-seq knockdown data for DYNC2LI1. 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 = DYNC2LI1 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 DYNC2LI1, 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 |
|---|---|---|---|---|
| chr2:43,595,554–43,596,646 | 178.0 kb | Distal (>10kb) Multiome | 954 | |
| chr2:43,636,715–43,638,161 | 136.8 kb | Distal (>10kb) Multiome | 536 | |
| chr2:43,724,902–43,725,564 | 48.8 kb | Distal (>10kb) Multiome | 329 | |
| chr2:43,773,887–43,774,528 | 35 bp | At TSS Multiome | 682 | |
| chr2:43,995,542–43,996,864 | 222.1 kb | Distal (>10kb) Multiome | 909 | |
| chr2:44,044,245–44,044,695 | 270.4 kb | Distal (>10kb) Multiome | 537 |
Genomic view of the DYNC2LI1 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.