This gene encodes a preproprotein that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight potential cleavage sites within the preproprotein and, depending on tissue type and the available convertases, processing may yield as many as ten biologically active peptides involved in diverse cellular functions. The encoded protein is synthesized mainly in corticotroph cells of the anterior pituitary where four cleavage sites are used; adrenocorticotrophin, essential for normal steroidogenesis and the maintenance of normal adrenal weight, and lipotropin beta are the major end products. In other tissues, including the hypothalamus, placenta, and epithelium, all cleavage sites may be used, giving rise to peptides with roles in pain and energy homeostasis, melanocyte stimulation, and immune modulation. These include several distinct melanotropins, lipotropins, and endorphins that are contained within the adrenocorticotrophin and beta-lipotropin peptides. The antimicrobial melanotropin alpha peptide exhibits antibacterial and antifungal activity. Mutations in this gene have been associated with early onset obesity, adrenal insufficiency, and red hair pigmentation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jan 2016]
Transcription factors with Perturb-seq knockdown data for POMC. 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 = POMC 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 POMC, 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 |
|---|---|---|---|---|
| chr2:24,919,504–24,920,824 | 248.4 kb | Distal (>10kb) Multiome | 431 | |
| chr2:24,971,247–24,972,384 | 196.6 kb | Distal (>10kb) Multiome HiCAR | 1032 | |
| chr2:25,041,314–25,043,455 | 126.5 kb | Distal (>10kb) Multiome | 743 | |
| chr2:25,131,383–25,132,709 | 36.2 kb | Distal (>10kb) Multiome | 162 | |
| chr2:25,160,022–25,160,255 | 8.3 kb | Proximal (<10kb) | 42 | |
| chr2:25,161,156–25,161,629 | 7.1 kb | Proximal (<10kb) Multiome | 112 | |
| chr2:25,166,106–25,166,355 | 2.2 kb | Proximal (<10kb) | 166 | |
| chr2:25,168,208–25,168,958 | 36 bp | At TSS Multiome | 225 | |
| chr2:25,215,506–25,216,577 | 47.6 kb | Distal (>10kb) Multiome | 303 | |
| chr2:25,228,812–25,229,707 | 60.5 kb | Distal (>10kb) Multiome | 332 | |
| chr2:25,250,582–25,253,280 | 83.9 kb | Distal (>10kb) Multiome | 927 | |
| chr2:25,256,230–25,257,422 | 88.2 kb | Distal (>10kb) Multiome | 198 | |
| chr2:25,259,433–25,260,091 | 91.3 kb | Distal (>10kb) Multiome | 160 | |
| chr2:25,276,533–25,277,585 | 108.8 kb | Distal (>10kb) Multiome | 258 | |
| chr2:25,314,940–25,315,608 | 146.6 kb | Distal (>10kb) Multiome | 196 | |
| chr2:25,339,832–25,342,944 | 173.9 kb | Distal (>10kb) Multiome | 921 | |
| chr2:25,361,777–25,362,353 | 193.6 kb | Distal (>10kb) Multiome | 654 | |
| chr2:25,376,446–25,377,553 | 208.4 kb | Distal (>10kb) Multiome | 758 |
Genomic view of the POMC 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.