| Tbio | Hepcidin |
Has strong antimicrobial activity against E.coli ML35P N.cinerea and weaker against S.epidermidis, S.aureus and group b streptococcus bacteria. Active against the fungus C.albicans. No activity against P.aeruginosa (PubMed:11113131, PubMed:11034317).
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]
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]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Hemochromatosis | 54 | 7.397 | 3.7 |
| Anemia | 365 | 7.063 | 3.5 |
| Biliary atresia | 12 | 0.0 | 0.0 |
| HEMOCHROMATOSIS, TYPE 2B | 1 | 0.0 | 0.0 |
| Hepatolenticular Degeneration | 24 | 0.0 | 0.0 |
| Iron Overload | 5 | 0.0 | 0.0 |
| Kidney Failure, Chronic | 46 | 0.0 | 0.0 |
| Kidney Neoplasms | 37 | 0.0 | 0.0 |
| beta-Thalassemia | 10 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| Alcoholic Intoxication, Chronic | 289 |
| Juvenile hemochromatosis | 2 |
| Disease | Target Count | P-value |
|---|---|---|
| cystic fibrosis | 1696 | 3.2e-04 |
| atypical teratoid / rhabdoid tumor | 5112 | 9.7e-04 |
| glioblastoma | 5792 | 2.5e-03 |
| medulloblastoma, large-cell | 6241 | 4.7e-03 |
| primitive neuroectodermal tumor | 3035 | 1.1e-02 |
| group 4 medulloblastoma | 1855 | 3.5e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| nutritional deficiency disease | 9 | 6.144 | 3.1 |
| Thalassemia | 53 | 5.387 | 2.7 |
| Kidney disease | 430 | 4.43 | 2.2 |
| Liver disease | 237 | 4.375 | 2.2 |
| Hepatitis C | 94 | 4.195 | 2.1 |
| Aceruloplasminemia | 16 | 4.024 | 2.0 |
| Siderosis | 9 | 3.517 | 1.8 |
| Malaria | 160 | 3.466 | 1.7 |
| Cancer | 2499 | 3.403 | 1.7 |
| Fatty liver disease | 103 | 3.393 | 1.7 |
| Atransferrinemia | 8 | 3.361 | 1.7 |
| Obesity | 678 | 3.192 | 1.6 |
| Porphyria cutanea tarda | 12 | 3.1 | 1.6 |
| Disease | Target Count |
|---|---|
| Beta thalassemia | 16 |
| HEMOCHROMATOSIS, TYPE 2A | 2 |
| Hemochromatosis type 1 | 9 |
| Hemochromatosis type 2 | 2 |
| Disease | log2 FC | p |
|---|---|---|
| atypical teratoid / rhabdoid tumor | -1.700 | 9.7e-04 |
| cystic fibrosis | -2.100 | 3.2e-04 |
| glioblastoma | 2.700 | 2.5e-03 |
| group 4 medulloblastoma | -1.100 | 3.5e-02 |
| medulloblastoma, large-cell | -1.700 | 4.7e-03 |
| primitive neuroectodermal tumor | -1.500 | 1.1e-02 |
