This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate. The encoded protein is localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity. Single nucleotide polymorphisms in this gene are associated with Kawasaki disease.[provided by RefSeq, Sep 2009]
Transcription factors with Perturb-seq knockdown data for ITPKC. 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 = ITPKC 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 ITPKC, 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 |
|---|---|---|---|---|
| chr19:40,420,702–40,421,699 | 296.0 kb | Distal (>10kb) Multiome | 966 | |
| chr19:40,424,783–40,426,631 | 291.1 kb | Distal (>10kb) Multiome | 954 | |
| chr19:40,433,505–40,434,546 | 283.1 kb | Distal (>10kb) Multiome | 791 | |
| chr19:40,442,698–40,445,144 | 273.9 kb | Distal (>10kb) Multiome | 994 | |
| chr19:40,465,326–40,466,635 | 251.2 kb | Distal (>10kb) Multiome | 815 | |
| chr19:40,487,850–40,488,306 | 229.0 kb | Distal (>10kb) Multiome | 193 | |
| chr19:40,519,457–40,519,993 | 197.4 kb | Distal (>10kb) Multiome | 222 | |
| chr19:40,528,978–40,529,879 | 187.8 kb | Distal (>10kb) Multiome | 601 | |
| chr19:40,529,987–40,530,863 | 186.5 kb | Distal (>10kb) Multiome | 384 | |
| chr19:40,549,036–40,549,555 | 167.7 kb | Distal (>10kb) Multiome | 372 | |
| chr19:40,570,181–40,571,253 | 146.4 kb | Distal (>10kb) Multiome | 598 | |
| chr19:40,576,133–40,577,495 | 140.3 kb | Distal (>10kb) Multiome | 616 | |
| chr19:40,596,828–40,597,429 | 120.0 kb | Distal (>10kb) Multiome | 354 | |
| chr19:40,598,094–40,598,871 | 118.6 kb | Distal (>10kb) Multiome | 606 | |
| chr19:40,603,345–40,604,624 | 113.0 kb | Distal (>10kb) Multiome | 889 | |
| chr19:40,604,983–40,606,597 | 111.4 kb | Distal (>10kb) Multiome | 708 | |
| chr19:40,609,543–40,610,691 | 107.0 kb | Distal (>10kb) Multiome | 519 | |
| chr19:40,612,884–40,615,179 | 103.4 kb | Distal (>10kb) Multiome | 595 | |
| chr19:40,623,557–40,624,516 | 93.1 kb | Distal (>10kb) Multiome | 454 | |
| chr19:40,634,333–40,634,959 | 82.5 kb | Distal (>10kb) Multiome | 629 | |
| chr19:40,662,838–40,663,654 | 54.0 kb | Distal (>10kb) Multiome | 856 | |
| chr19:40,689,888–40,691,759 | 26.3 kb | Distal (>10kb) Multiome | 691 | |
| chr19:40,714,822–40,715,454 | 2.0 kb | Proximal (<10kb) Multiome | 531 | |
| chr19:40,715,579–40,715,967 | 1.1 kb | Proximal (<10kb) | 620 | |
| chr19:40,716,605–40,717,875 | 67 bp | At TSS Multiome | 772 | |
| chr19:40,750,206–40,751,874 | 33.7 kb | Distal (>10kb) Multiome | 989 | |
| chr19:40,777,237–40,779,173 | 61.2 kb | Distal (>10kb) Multiome | 901 | |
| chr19:40,798,002–40,799,843 | 81.9 kb | Distal (>10kb) Multiome | 936 | |
| chr19:40,806,580–40,807,205 | 89.9 kb | Distal (>10kb) Multiome | 496 | |
| chr19:40,810,733–40,811,261 | 93.9 kb | Distal (>10kb) Multiome | 115 |
Genomic view of the ITPKC 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.