This gene encodes a protein that binds the plus-end directed microtubule motor protein kinesin, together with the lysosomal GTPase Arl8, and is required for lysosomes to distribute away from the microtubule-organizing center. The encoded protein belongs to the multisubunit BLOC-one-related complex that regulates lysosome positioning. It binds a Salmonella effector protein called Salmonella induced filament A and is a critical host determinant in Salmonella pathogenesis. It has a domain architecture consisting of an N-terminal RPIP8, UNC-14, and NESCA (RUN) domain that binds kinesin-1 as well as the lysosomal GTPase Arl8, and a C-terminal pleckstrin homology domain that binds the Salmonella induced filament A effector protein. Naturally occurring mutations in this gene lead to abnormal localization of lysosomes, impaired autophagy flux and are associated with recessive dilated cardiomyopathy and left ventricular noncompaction. [provided by RefSeq, Feb 2017]
Transcription factors with Perturb-seq knockdown data for PLEKHM2. 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 = PLEKHM2 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 PLEKHM2, 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 |
|---|---|---|---|---|
| chr1:15,409,150–15,410,227 | 274.8 kb | Distal (>10kb) Multiome | 618 | |
| chr1:15,412,068–15,412,674 | 272.2 kb | Distal (>10kb) Multiome | 120 | |
| chr1:15,523,864–15,525,570 | 159.9 kb | Distal (>10kb) Multiome | 674 | |
| chr1:15,526,118–15,527,442 | 157.7 kb | Distal (>10kb) Multiome | 899 | |
| chr1:15,584,405–15,585,197 | 99.8 kb | Distal (>10kb) Multiome | 693 | |
| chr1:15,603,163–15,603,936 | 80.9 kb | Distal (>10kb) Multiome | 795 | |
| chr1:15,616,785–15,618,260 | 67.2 kb | Distal (>10kb) Multiome | 909 | |
| chr1:15,676,618–15,677,408 | 7.4 kb | Proximal (<10kb) Multiome | 95 | |
| chr1:15,684,180–15,684,371 | 168 bp | At TSS | 289 | |
| chr1:15,741,258–15,741,859 | 57.0 kb | Distal (>10kb) Multiome | 436 | |
| chr1:15,757,615–15,759,609 | 74.0 kb | Distal (>10kb) Multiome | 439 | |
| chr1:15,799,931–15,800,776 | 115.8 kb | Distal (>10kb) Multiome | 734 | |
| chr1:15,834,229–15,836,682 | 151.5 kb | Distal (>10kb) Multiome | 1154 | |
| chr1:15,847,036–15,848,900 | 163.1 kb | Distal (>10kb) Multiome | 817 | |
| chr1:15,849,314–15,850,241 | 165.1 kb | Distal (>10kb) Multiome | 788 | |
| chr1:15,975,319–15,976,269 | 291.3 kb | Distal (>10kb) Multiome | 788 |
Genomic view of the PLEKHM2 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.