This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for PITX2. 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 = PITX2 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 PITX2, 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 |
|---|---|---|---|---|
| chr4:110,411,354–110,412,301 | 207.0 kb | Distal (>10kb) Multiome | 372 | |
| chr4:110,609,129–110,609,424 | 9.4 kb | Proximal (<10kb) | 111 | |
| chr4:110,613,796–110,614,882 | 4.5 kb | Proximal (<10kb) Multiome | 225 | |
| chr4:110,615,006–110,616,645 | 3.0 kb | Proximal (<10kb) Multiome | 226 | |
| chr4:110,617,892–110,620,263 | 824 bp | At TSS Multiome | 335 | |
| chr4:110,620,638–110,627,477 | 4.3 kb | Proximal (<10kb) Multiome | 562 | |
| chr4:110,628,237–110,630,191 | 9.4 kb | Proximal (<10kb) | 196 | |
| chr4:110,630,610–110,633,369 | 12.0 kb | Distal (>10kb) Multiome | 525 | |
| chr4:110,633,694–110,634,390 | 4.4 kb | Proximal (<10kb) | 85 | |
| chr4:110,636,247–110,638,157 | 7.0 kb | Proximal (<10kb) | 428 | |
| chr4:110,639,185–110,639,765 | 9.9 kb | Proximal (<10kb) | 111 | |
| chr4:110,641,211–110,641,759 | 8.7 kb | Proximal (<10kb) | 68 | |
| chr4:110,793,382–110,794,932 | 175.6 kb | Distal (>10kb) Multiome | 287 | |
| chr4:111,795,408–111,796,556 | 1177.1 kb | Distal (>10kb) Multiome HiCAR | 207 |
Genomic view of the PITX2 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.