The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
Transcription factors with Perturb-seq knockdown data for INPP5E. 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 = INPP5E 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 INPP5E, 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 |
|---|---|---|---|---|
| chr9:136,245,219–136,246,310 | 194.0 kb | Distal (>10kb) Multiome | 608 | |
| chr9:136,267,002–136,267,928 | 172.5 kb | Distal (>10kb) Multiome | 459 | |
| chr9:136,327,140–136,327,919 | 112.3 kb | Distal (>10kb) Multiome | 310 | |
| chr9:136,342,464–136,343,245 | 96.9 kb | Distal (>10kb) Multiome | 326 | |
| chr9:136,362,899–136,364,677 | 76.5 kb | Distal (>10kb) Multiome | 969 | |
| chr9:136,399,639–136,400,642 | 39.6 kb | Distal (>10kb) Multiome | 776 | |
| chr9:136,410,307–136,410,943 | 29.2 kb | Distal (>10kb) Multiome | 740 | |
| chr9:136,438,826–136,440,227 | 4 bp | At TSS Multiome | 608 | |
| chr9:136,482,405–136,485,297 | 43.5 kb | Distal (>10kb) Multiome | 938 | |
| chr9:136,545,392–136,547,129 | 106.3 kb | Distal (>10kb) Multiome | 710 | |
| chr9:136,572,053–136,572,865 | 132.5 kb | Distal (>10kb) Multiome | 239 | |
| chr9:136,587,135–136,588,835 | 148.5 kb | Distal (>10kb) Multiome | 453 | |
| chr9:136,626,479–136,627,366 | 187.1 kb | Distal (>10kb) Multiome | 451 | |
| chr9:136,665,223–136,666,507 | 226.0 kb | Distal (>10kb) Multiome | 409 | |
| chr9:136,686,875–136,688,079 | 247.6 kb | Distal (>10kb) Multiome | 610 | |
| chr9:136,711,795–136,713,743 | 272.6 kb | Distal (>10kb) Multiome | 459 | |
| chr9:136,727,616–136,729,079 | 288.4 kb | Distal (>10kb) Multiome | 1013 |
Genomic view of the INPP5E 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.