This gene encodes a member of the KLHL (Kelch-like) family of proteins. This protein has been identified as an autoantigen in the autoimmune disease Sjogren's syndrome and as a potential biomarker in primary biliary cirrhosis. This protein may act as a substrate adaptor of the Cullin-3 ubiquitin ligase complex to promote substrate-specific ubiquitylation. Ubiquitylation by this complex has been shown to regulate the Wnt signaling pathway as well as COPII vesicle coat size. A pseudogene has been identified on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Transcription factors with Perturb-seq knockdown data for KLHL12. 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 = KLHL12 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 KLHL12, 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 |
|---|---|---|---|---|
| chr1:202,638,017–202,638,513 | 288.9 kb | Distal (>10kb) Multiome | 19 | |
| chr1:202,643,050–202,644,080 | 283.4 kb | Distal (>10kb) Multiome | 115 | |
| chr1:202,709,842–202,710,859 | 216.8 kb | Distal (>10kb) Multiome | 255 | |
| chr1:202,806,787–202,808,806 | 118.8 kb | Distal (>10kb) Multiome | 869 | |
| chr1:202,810,279–202,811,748 | 116.4 kb | Distal (>10kb) Multiome | 933 | |
| chr1:202,818,850–202,819,302 | 108.2 kb | Distal (>10kb) Multiome | 40 | |
| chr1:202,860,760–202,862,216 | 65.6 kb | Distal (>10kb) Multiome | 695 | |
| chr1:202,888,353–202,889,540 | 38.2 kb | Distal (>10kb) Multiome | 894 | |
| chr1:202,926,591–202,927,689 | 16 bp | At TSS Multiome | 1072 | |
| chr1:202,957,716–202,958,953 | 31.1 kb | Distal (>10kb) Multiome | 787 | |
| chr1:202,966,422–202,967,948 | 40.1 kb | Distal (>10kb) Multiome | 536 | |
| chr1:203,005,211–203,007,890 | 78.4 kb | Distal (>10kb) Multiome | 874 | |
| chr1:203,026,091–203,027,571 | 99.2 kb | Distal (>10kb) Multiome | 771 | |
| chr1:203,075,525–203,076,284 | 148.8 kb | Distal (>10kb) Multiome | 165 | |
| chr1:203,117,633–203,118,111 | 190.7 kb | Distal (>10kb) Multiome | 344 | |
| chr1:203,127,495–203,128,610 | 201.1 kb | Distal (>10kb) Multiome | 317 |
Genomic view of the KLHL12 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.