This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
Transcription factors with Perturb-seq knockdown data for PICALM. 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 = PICALM 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 PICALM, 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 |
|---|---|---|---|---|
| chr11:85,809,696–85,811,885 | 257.9 kb | Distal (>10kb) Multiome | 535 | |
| chr11:85,854,605–85,855,812 | 214.0 kb | Distal (>10kb) Multiome | 948 | |
| chr11:86,052,796–86,053,429 | 16.0 kb | Distal (>10kb) Multiome | 169 | |
| chr11:86,068,044–86,070,093 | 128 bp | At TSS Multiome | 1026 | |
| chr11:86,151,187–86,151,901 | 82.4 kb | Distal (>10kb) Multiome | 356 | |
| chr11:86,172,744–86,173,502 | 103.9 kb | Distal (>10kb) Multiome HiCAR | 240 | |
| chr11:86,244,135–86,246,099 | 175.9 kb | Distal (>10kb) Multiome | 959 | |
| chr11:86,302,015–86,302,729 | 233.2 kb | Distal (>10kb) Multiome | 873 |
Genomic view of the PICALM 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.