The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Transcription factors with Perturb-seq knockdown data for CIB2. 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 = CIB2 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 CIB2, 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 |
|---|---|---|---|---|
| chr15:78,077,036–78,077,991 | 53.9 kb | Distal (>10kb) Multiome | 552 | |
| chr15:78,130,851–78,132,005 | 31 bp | At TSS Multiome | 769 | |
| chr15:78,148,893–78,150,142 | 17.8 kb | Distal (>10kb) Multiome | 746 | |
| chr15:78,264,436–78,265,112 | 133.2 kb | Distal (>10kb) Multiome | 241 | |
| chr15:78,299,130–78,299,874 | 168.1 kb | Distal (>10kb) Multiome | 798 | |
| chr15:78,303,744–78,304,214 | 172.3 kb | Distal (>10kb) Multiome | 287 | |
| chr15:78,340,100–78,340,745 | 208.7 kb | Distal (>10kb) Multiome | 194 | |
| chr15:78,348,106–78,348,824 | 216.9 kb | Distal (>10kb) Multiome | 178 |
Genomic view of the CIB2 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.