POMC
proopiomelanocortin | ACTH, CLIP, LPH, MSH, NPP, POC

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]

Developmental clusters: GC2
Biological processes 58 terms
G protein-coupled receptor binding (GO:0001664)adenylate cyclase-activating G protein-coupled receptor signaling pathway (GO:0007189)adenylate cyclase-activating G protein-coupled receptor signaling pathway (GO:0007189)antimicrobial humoral immune response mediated by antimicrobial peptide (GO:0061844)calcium-mediated signaling (GO:0019722)cell-cell signaling (GO:0007267)cell-cell signaling (GO:0007267)cellular pigmentation (GO:0033059)cellular pigmentation (GO:0033059)cytoplasm (GO:0005737)cytoplasm (GO:0005737)extracellular region (GO:0005576)extracellular region (GO:0005576)extracellular region (GO:0005576)extracellular region (GO:0005576)extracellular region (GO:0005576)generation of precursor metabolites and energy (GO:0006091)hormone activity (GO:0005179)hormone activity (GO:0005179)hormone activity (GO:0005179)hormone activity (GO:0005179)hormone activity (GO:0005179)negative regulation of appetite (GO:0032099)negative regulation of immune response (GO:0050777)negative regulation of immune response (GO:0050777)negative regulation of tumor necrosis factor production (GO:0032720)peroxisomal matrix (GO:0005782)peroxisome (GO:0005777)positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway (GO:0106071)positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway (GO:0106071)positive regulation of exocytosis (GO:0045921)positive regulation of glucocorticoid biosynthetic process (GO:0031948)positive regulation of melanin biosynthetic process (GO:0048023)positive regulation of melanin biosynthetic process (GO:0048023)positive regulation of melanin biosynthetic process (GO:0048023)positive regulation of oxytocin production (GO:0140668)positive regulation of transcription by RNA polymerase II (GO:0045944)protein binding (GO:0005515)receptor ligand activity (GO:0048018)regulation of appetite (GO:0032098)regulation of blood pressure (GO:0008217)regulation of feeding behavior (GO:0060259)regulation of feeding behavior (GO:0060259)response to melanocyte-stimulating hormone (GO:1990680)response to melanocyte-stimulating hormone (GO:1990680)secretory granule (GO:0030141)secretory granule (GO:0030141)secretory granule lumen (GO:0034774)signal transduction (GO:0007165)signal transduction (GO:0007165)signal transduction (GO:0007165)signaling receptor binding (GO:0005102)type 1 melanocortin receptor binding (GO:0070996)type 1 melanocortin receptor binding (GO:0070996)type 3 melanocortin receptor binding (GO:0031781)type 3 melanocortin receptor binding (GO:0031781)type 4 melanocortin receptor binding (GO:0031782)type 5 melanocortin receptor binding (GO:0031783)
Expression (TPM)
POMC — as a Regulated Gene

TFs regulating POMC 0 TFs

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.

Data: Effect:
TF Mean coef Binding Outlier TF→Gene link

Elements linked to POMC

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

Genome Browser

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.

chr2:24,909,504 – 25,387,553
Proximal 1 kb Distal 10 kb Multiome HiCAR ATAC-seq RNA-seq