Mucolipins constitute a family of cation channel proteins with homology to the transient receptor potential superfamily. In mammals, the mucolipin family includes 3 members, MCOLN1 (MIM 605248), MCOLN2, and MCOLN3 (MIM 607400), that exhibit a common 6-membrane-spanning topology. Homologs of mammalian mucolipins exist in Drosophila and C. elegans. Mutations in the human MCOLN1 gene cause mucolipodosis IV (MIM 262650) (Karacsonyi et al., 2007 [PubMed 17662026]).[supplied by OMIM, Sep 2009]
Transcription factors with Perturb-seq knockdown data for MCOLN2. 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 = MCOLN2 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 MCOLN2, 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 |
|---|---|---|---|---|
| chr1:84,892,367–84,893,746 | 103.9 kb | Distal (>10kb) Multiome | 406 | |
| chr1:84,944,592–84,945,445 | 52.1 kb | Distal (>10kb) Multiome | 438 | |
| chr1:84,996,442–84,998,604 | 52 bp | At TSS Multiome | 490 | |
| chr1:85,047,243–85,049,064 | 51.1 kb | Distal (>10kb) Multiome | 533 | |
| chr1:85,061,692–85,062,785 | 65.1 kb | Distal (>10kb) Multiome | 384 | |
| chr1:85,200,160–85,202,231 | 204.6 kb | Distal (>10kb) Multiome | 895 | |
| chr1:85,224,822–85,225,910 | 228.1 kb | Distal (>10kb) Multiome | 499 | |
| chr1:85,258,924–85,260,262 | 262.6 kb | Distal (>10kb) Multiome | 782 | |
| chr1:85,275,751–85,277,437 | 279.5 kb | Distal (>10kb) Multiome | 868 |
Genomic view of the MCOLN2 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.