The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011]
Transcription factors with Perturb-seq knockdown data for APPL2. 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 = APPL2 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 APPL2, 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 |
|---|---|---|---|---|
| chr12:104,957,697–104,958,992 | 277.8 kb | Distal (>10kb) Multiome | 811 | |
| chr12:104,986,118–104,986,938 | 249.7 kb | Distal (>10kb) Multiome | 665 | |
| chr12:105,083,642–105,085,161 | 151.5 kb | Distal (>10kb) Multiome | 490 | |
| chr12:105,107,164–105,108,312 | 128.4 kb | Distal (>10kb) Multiome | 1033 | |
| chr12:105,235,605–105,236,419 | 25 bp | At TSS Multiome | 802 | |
| chr12:105,330,237–105,331,332 | 94.6 kb | Distal (>10kb) Multiome | 497 | |
| chr12:105,459,868–105,460,332 | 224.0 kb | Distal (>10kb) Multiome | 58 | |
| chr12:106,247,023–106,248,967 | 1012.0 kb | Distal (>10kb) Multiome HiCAR | 593 |
Genomic view of the APPL2 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.