This gene encodes one of members of the mucolipin cation channel proteins. Mutation studies of the highly similar protein in mice have shown that the protein is found in cochlea hair cells, and mutant mice show early-onset hearing loss and balance problems. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
Transcription factors with Perturb-seq knockdown data for MCOLN3. 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 = MCOLN3 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 MCOLN3, 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 | 155.3 kb | Distal (>10kb) Multiome | 406 | |
| chr1:84,944,592–84,945,445 | 103.4 kb | Distal (>10kb) Multiome | 438 | |
| chr1:84,996,442–84,998,604 | 51.3 kb | Distal (>10kb) Multiome | 490 | |
| chr1:85,047,243–85,049,064 | 195 bp | At TSS Multiome | 533 | |
| chr1:85,049,611–85,050,345 | 1.1 kb | Proximal (<10kb) | 156 | |
| chr1:85,054,792–85,054,968 | 6.3 kb | Proximal (<10kb) | 12 | |
| chr1:85,061,692–85,062,785 | 13.8 kb | Distal (>10kb) Multiome | 384 | |
| chr1:85,200,160–85,202,231 | 153.3 kb | Distal (>10kb) Multiome | 895 | |
| chr1:85,224,822–85,225,910 | 176.8 kb | Distal (>10kb) Multiome | 499 | |
| chr1:85,258,924–85,260,262 | 211.3 kb | Distal (>10kb) Multiome | 782 | |
| chr1:85,275,751–85,277,437 | 228.2 kb | Distal (>10kb) Multiome | 868 | |
| chr1:85,307,937–85,308,862 | 259.8 kb | Distal (>10kb) Multiome | 554 |
Genomic view of the MCOLN3 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.