HAMP
hepcidin antimicrobial peptide
Summary
The product encoded by this gene is involved in the maintenance of iron homeostasis, and it is necessary for the regulation of iron storage in macrophages, and for intestinal iron absorption. The preproprotein is post-translationally cleaved into mature peptides of 20, 22 and 25 amino acids, and these active peptides are rich in cysteines, which form intramolecular bonds that stabilize their beta-sheet structures. These peptides exhibit antimicrobial activity against bacteria and fungi. Mutations in this gene cause hemochromatosis type 2B, also known as juvenile hemochromatosis, a disease caused by severe iron overload that results in cardiomyopathy, cirrhosis, and endocrine failure. [provided by RefSeq, Oct 2014]
Known Variants72 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10421768 | 19:35,772,899 | A/G | downstream gene variant | benign |
| rs142126068 | 19:35,773,328 | C/T | — | conflicting classifications of pathogenicity |
| rs367646034 | 19:35,773,409 | C/T | — | benign |
| rs886054342 | 19:35,773,414 | G/C | — | uncertain significance |
| rs944843686 | 19:35,773,456 | G/A | — | pathogenic |
| rs149146279 | 19:35,773,480 | G/A | — | uncertain significance |
| rs764107355 | 19:35,773,482 | T/C | — | likely pathogenic |
| rs2513556604 | 19:35,773,489 | G/A | — | likely benign |
| rs1229883420 | 19:35,773,501 | C/T | — | likely benign |
| rs201371612 | 19:35,773,507 | C/G | — | likely benign |
| rs768305190 | 19:35,773,516 | C/A | — | likely benign |
| rs373178250 | 19:35,773,522 | C/G | — | likely benign |
| rs747626500 | 19:35,773,525 | C/T | — | likely benign |
| rs990022453 | 19:35,773,528 | C/T | — | likely benign |
| rs145846674 | 19:35,773,534 | C/T | — | likely benign |
| rs760576032 | 19:35,773,541 | C/T | — | likely benign |
| rs1410171516 | 19:35,773,543 | G/C | — | likely benign |
| rs770745939 | 19:35,773,545 | C/T | — | uncertain significance |
| rs776364235 | 19:35,773,546 | C/T | — | likely benign |
| rs1189336239 | 19:35,773,552 | C/T | — | likely benign |
| rs780585862 | 19:35,773,578 | C/T | — | likely benign |
| rs754172113 | 19:35,773,580 | C/A | — | likely benign |
| rs2513556830 | 19:35,773,581 | A/G | — | likely benign |
| rs2066309429 | 19:35,773,582 | G/A | — | likely benign |
| rs2513556834 | 19:35,773,587 | C/G | — | likely benign |
| rs55863037 | 19:35,775,395 | G/A | — | benign |
| rs7251432 | 19:35,775,441 | A/G | — | benign |
| rs2293689 | 19:35,775,626 | C/T | — | benign |
| rs769458797 | 19:35,775,675 | C/A | — | likely benign |
| rs888559115 | 19:35,775,676 | C/G | — | likely benign |
| rs2513558529 | 19:35,775,678 | T/A | — | likely benign |
| rs2513558530 | 19:35,775,680 | C/T | — | likely benign |
| rs761907472 | 19:35,775,691 | G/A | — | conflicting classifications of pathogenicity |
| rs146776859 | 19:35,775,693 | C/T | — | conflicting classifications of pathogenicity |
| rs2066318612 | 19:35,775,697 | A/C | — | likely benign |
| rs2066318628 | 19:35,775,698 | C/A | — | uncertain significance |
| rs761276428 | 19:35,775,700 | A/G | — | likely benign |
| rs140722547 | 19:35,775,701 | C/A | — | uncertain significance |
| rs2513558553 | 19:35,775,703 | T/C | — | likely benign |
| rs2066318734 | 19:35,775,709 | G/A | — | likely benign |
| rs2066318789 | 19:35,775,715 | A/G | — | likely benign |
| rs2513558609 | 19:35,775,739 | G/A | — | likely benign |
| rs2513558617 | 19:35,775,742 | C/T | — | likely benign |
| rs375386964 | 19:35,775,757 | C/T | — | uncertain significance |
| rs201587159 | 19:35,775,758 | G/A | — | conflicting classifications of pathogenicity |
| rs576979244 | 19:35,775,763 | A/C | — | benign |
| rs769666853 | 19:35,775,766 | G/A | — | likely benign |
| rs2513558660 | 19:35,775,767 | A/G | — | likely benign |
| rs2066319138 | 19:35,775,770 | C/T | — | likely benign |
| rs780533179 | 19:35,775,825 | C/G | — | likely benign |
| rs745845982 | 19:35,775,826 | C/T | — | likely benign |
| rs2513558772 | 19:35,775,827 | C/T | — | likely benign |
| rs1362280095 | 19:35,775,831 | C/T | — | likely benign |
| rs1568466083 | 19:35,775,834 | C/T | — | likely benign |
| rs749023682 | 19:35,775,845 | T/C | — | uncertain significance |
| rs755244240 | 19:35,775,853 | A/G | — | uncertain significance |
| rs104894695 | 19:35,775,856 | C/T | stop gained | pathogenic |
| rs768566070 | 19:35,775,857 | G/A | — | uncertain significance |
| rs779021719 | 19:35,775,865 | C/G | — | uncertain significance |
| rs2066319871 | 19:35,775,866 | G/C | — | pathogenic |
| rs753934178 | 19:35,775,879 | C/T | — | conflicting classifications of pathogenicity |
| rs2513558859 | 19:35,775,882 | C/T | — | likely benign |
| rs2513558879 | 19:35,775,897 | C/T | — | likely benign |
| rs1374259518 | 19:35,775,898 | T/C | — | uncertain significance |
| rs760104316 | 19:35,775,900 | C/T | — | likely benign |
| rs104894696 | 19:35,775,902 | G/A | missense variant | risk factor |
| rs763369315 | 19:35,775,906 | C/T | synonymous variant | likely benign |
| rs863224779 | 19:35,775,908 | G/A | — | uncertain significance |
| rs200488037 | 19:35,775,913 | C/T | — | likely pathogenic |
| rs1344639816 | 19:35,775,918 | A/C | — | likely benign |
| rs150121265 | 19:35,775,942 | G/A | — | conflicting classifications of pathogenicity |
| rs570714594 | 19:35,776,481 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.