POMC
proopiomelanocortin
Summary
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]
Known Variants110 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs886055853 | 2:25,383,830 | T/C | — | uncertain significance |
| rs1042571 | 2:25,383,887 | G/A | downstream gene variant | benign |
| rs779850714 | 2:25,383,953 | C/T | — | uncertain significance |
| rs752878924 | 2:25,383,956 | G/A | — | likely benign |
| rs777772852 | 2:25,383,959 | C/T | — | uncertain significance |
| rs761359264 | 2:25,384,009 | G/A | — | uncertain significance |
| rs1558627536 | 2:25,384,024 | C/G | — | uncertain significance |
| rs766097368 | 2:25,384,025 | G/A | — | likely benign |
| rs1671338497 | 2:25,384,038 | C/T | — | uncertain significance |
| rs777967574 | 2:25,384,044 | T/C | — | uncertain significance |
| rs28932472 | 2:25,384,048 | G/C | missense variant | pathogenic |
| rs778888319 | 2:25,384,061 | C/T | — | likely benign |
| rs150343979 | 2:25,384,086 | A/G | — | uncertain significance |
| rs149540566 | 2:25,384,092 | T/C | — | conflicting classifications of pathogenicity |
| rs1671345551 | 2:25,384,112 | C/T | — | uncertain significance |
| rs80326661 | 2:25,384,113 | T/C | — | conflicting classifications of pathogenicity |
| rs757423347 | 2:25,384,116 | G/A | — | uncertain significance |
| rs758614198 | 2:25,384,128 | A/G | — | uncertain significance |
| rs139540760 | 2:25,384,136 | C/T | — | likely benign |
| rs202127120 | 2:25,384,138 | C/A | — | uncertain significance |
| rs781443872 | 2:25,384,152 | G/A | — | uncertain significance |
| rs2465543892 | 2:25,384,155 | C/T | — | uncertain significance |
| rs2071345 | 2:25,384,169 | G/A | — | benign |
| rs141309351 | 2:25,384,171 | C/T | — | conflicting classifications of pathogenicity |
| rs758527241 | 2:25,384,197 | C/T | — | uncertain significance |
| rs748961346 | 2:25,384,231 | C/G | — | uncertain significance |
| rs924300699 | 2:25,384,236 | G/C | — | uncertain significance |
| rs1054095367 | 2:25,384,250 | C/G | — | likely benign |
| rs1267957538 | 2:25,384,255 | C/A | — | uncertain significance |
| rs760352559 | 2:25,384,256 | G/A | — | conflicting classifications of pathogenicity |
| rs914337816 | 2:25,384,262 | G/A | — | likely benign |
| rs773522618 | 2:25,384,263 | G/A | — | uncertain significance |
| rs373721473 | 2:25,384,280 | C/A | — | uncertain significance |
| rs1402453151 | 2:25,384,312 | T/C | — | uncertain significance |
| rs45463492 | 2:25,384,320 | C/T | — | uncertain significance |
| rs756412997 | 2:25,384,321 | G/A | — | uncertain significance |
| rs201408477 | 2:25,384,324 | A/G | — | uncertain significance |
| rs201519174 | 2:25,384,325 | G/C | — | uncertain significance |
| rs374434212 | 2:25,384,327 | G/A | — | likely benign |
| rs1671363241 | 2:25,384,338 | T/C | — | uncertain significance |
| rs779829904 | 2:25,384,355 | G/A | — | uncertain significance |
| rs8192606 | 2:25,384,360 | G/C | — | conflicting classifications of pathogenicity |
| rs1671366417 | 2:25,384,365 | G/A | — | uncertain significance |
| rs997337232 | 2:25,384,371 | G/A | — | uncertain significance |
| rs34650613 | 2:25,384,408 | G/A | — | likely benign |
| rs754188016 | 2:25,384,420 | C/A | — | uncertain significance |
| rs757795459 | 2:25,384,440 | T/C | — | uncertain significance |
| rs121918111 | 2:25,384,441 | C/A | stop gained | pathogenic |
| rs1020449183 | 2:25,384,442 | G/A | — | likely benign |
| rs779649508 | 2:25,384,444 | G/T | — | uncertain significance |
| rs754983656 | 2:25,384,455 | G/C | — | uncertain significance |
| rs746125905 | 2:25,384,465 | T/G | — | uncertain significance |
| rs980248951 | 2:25,384,469 | G/A | — | likely benign |
| rs531289142 | 2:25,384,470 | C/T | — | uncertain significance |
| rs550376110 | 2:25,384,471 | T/C | — | uncertain significance |
| rs28930368 | 2:25,384,472 | G/A | — | benign |
| rs180767274 | 2:25,384,474 | T/C | — | uncertain significance |
| rs201517327 | 2:25,384,482 | T/C | — | uncertain significance |
| rs2465546831 | 2:25,384,483 | T/G | — | uncertain significance |
| rs199636726 | 2:25,384,493 | G/T | — | conflicting classifications of pathogenicity |
| rs202042867 | 2:25,384,499 | G/C | — | uncertain significance |
| rs781244602 | 2:25,384,503 | C/T | — | pathogenic |
| rs748145117 | 2:25,384,504 | A/C | — | uncertain significance |
| rs755926365 | 2:25,384,510 | A/C | — | uncertain significance |
| rs1173071382 | 2:25,384,520 | G/T | — | likely benign |
| rs1671387302 | 2:25,384,533 | G/T | — | uncertain significance |
| rs762336368 | 2:25,384,556 | G/C | — | uncertain significance |
| rs765522434 | 2:25,384,568 | C/T | — | likely benign |
| rs752644128 | 2:25,384,578 | G/A | — | uncertain significance |
| rs917202708 | 2:25,384,585 | C/T | — | uncertain significance |
| rs28932470 | 2:25,384,596 | T/C | — | conflicting classifications of pathogenicity |
| rs121918112 | 2:25,384,603 | T/A | stop gained | pathogenic |
| rs1404045621 | 2:25,384,607 | G/A | — | likely benign |
| rs773664098 | 2:25,384,610 | C/G | — | likely benign |
| rs763349234 | 2:25,384,611 | C/T | — | uncertain significance |
| rs1329806966 | 2:25,384,613 | G/T | — | likely benign |
| rs1461001186 | 2:25,384,616 | G/A | — | likely benign |
| rs1309309854 | 2:25,384,618 | A/G | — | uncertain significance |
| rs1553400259 | 2:25,384,623 | T/G | — | pathogenic |
| rs577904857 | 2:25,384,640 | G/A | — | likely benign |
| rs6713396 | 2:25,384,705 | T/C | — | benign |
| rs6713532 | 2:25,384,833 | T/C | downstream gene variant | benign |
| rs12473543 | 2:25,387,181 | T/G | intron variant | benign |
| rs778322412 | 2:25,387,506 | G/A | — | likely benign |
| rs774861632 | 2:25,387,517 | T/C | — | uncertain significance |
| rs142715775 | 2:25,387,525 | C/T | — | conflicting classifications of pathogenicity |
| rs200370644 | 2:25,387,526 | G/A | — | uncertain significance |
| rs763531551 | 2:25,387,530 | T/A | — | uncertain significance |
| rs1276202170 | 2:25,387,542 | A/G | — | uncertain significance |
| rs1573254045 | 2:25,387,558 | G/T | — | pathogenic |
| rs143923583 | 2:25,387,568 | C/T | — | uncertain significance |
| rs866305615 | 2:25,387,569 | G/A | — | uncertain significance |
| rs757720012 | 2:25,387,587 | G/A | — | likely pathogenic |
| rs139750421 | 2:25,387,616 | G/A | — | uncertain significance |
| rs761386423 | 2:25,387,620 | G/A | — | uncertain significance |
| rs8192605 | 2:25,387,624 | A/G | — | conflicting classifications of pathogenicity |
| rs773178150 | 2:25,387,630 | C/T | — | likely benign |
| rs766183863 | 2:25,387,631 | G/A | — | uncertain significance |
| rs752925315 | 2:25,387,638 | G/A | — | uncertain significance |
| rs753856820 | 2:25,387,652 | G/T | 5 prime UTR variant | pathogenic |
Showing 100 of 110 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.