| Tbio | Hemojuvelin |
Acts as a bone morphogenetic protein (BMP) coreceptor. Through enhancement of BMP signaling regulates hepcidin (HAMP) expression and regulates iron homeostasis.
The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Two uORFs in the 5' UTR negatively regulate the expression and activity of the encoded protein. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq, Oct 2015]
The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Two uORFs in the 5' UTR negatively regulate the expression and activity of the encoded protein. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq, Oct 2015]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Hemochromatosis | 54 | 7.236 | 3.6 |
| Cholestasis | 155 | 0.0 | 0.0 |
| Hemochromatosis, type 2 | 1 | 0.0 | 0.0 |
| Liver Cirrhosis, Experimental | 769 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| Juvenile hemochromatosis | 2 |
| Disease | Target Count | P-value |
|---|---|---|
| pancreatic ductal adenocarcinoma liver metastasis | 1962 | 4.0e-03 |
| non diabetic and post-ischemic heart failure | 200 | 1.7e-02 |
| Disease | Target Count |
|---|---|
| HEMOCHROMATOSIS, TYPE 2A | 2 |
| Hemochromatosis type 1 | 9 |
| Hemochromatosis type 2 | 2 |
| Disease | log2 FC | p |
|---|---|---|
| non diabetic and post-ischemic heart fai... | 1.200 | 1.7e-02 |
| pancreatic ductal adenocarcinoma liver m... | -3.510 | 4.0e-03 |
MGEPGQSPSPRSSHGSPPTLSTLTLLLLLCGHAHSQCKILRCNAEYVSSTLSLRGGGSSGALRGGGGGGR 1 - 70 GGGVGSGGLCRALRSYALCTRRTARTCRGDLAFHSAVHGIEDLMIQHNCSRQGPTAPPPPRGPALPGAGS 71 - 140 GLPAPDPCDYEGRFSRLHGRPPGFLHCASFGDPHVRSFHHHFHTCRVQGAWPLLDNDFLFVQATSSPMAL 141 - 210 GANATATRKLTIIFKNMQECIDQKVYQAEVDNLPVAFEDGSINGGDRPGGSSLSIQTANPGNHVEIQAAY 211 - 280 IGTTIIIRQTAGQLSFSIKVAEDVAMAFSAEQDLQLCVGGCPPSQRLSRSERNRRGAITIDTARRLCKEG 281 - 350 LPVEDAYFHSCVFDVLISGDPNFTVAAQAALEDARAFLPDLEKLHLFPSDAGVPLSSATLLAPLLSGLFV 351 - 420 LWLCIQ 421 - 426 //
