| Gene Symbol |
HFE2
|
| Entrez Gene |
148738
|
| Alt Symbol |
HFE2A, HJV, JH, RGMC
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
hemochromatosis type 2 (juvenile)
|
| Other Description |
RGM domain family member C|haemojuvelin|hemochromatosis type 2 protein|hemojuvelin|repulsive guidance molecule c
|
| Swissprots |
Q6ZVN8 Q8WVJ5 Q2PQ63 B1ALI7 Q8NAH2 Q6IMF6
|
| Accessions |
ABC40718 CAI22091 CAI22092 CAI22349 CAI22350 CAN86494 CAO00462 CAX62674 CAX86829 CEF39436 EAW71407 EAW71408 EAW71409 Q6ZVN8 AA479148 AK092682 BAC03944 AK092692 BAC03947 AK096905 BAC04890 AK124273 BAC85823 AK223575 AK290831 BAF83520 AK292742 BAF85431 AK315852 BAF98743 AY372521 AAR22390 BC017926 AAH17926 BC085604 AAH85604 DB035674 HQ447765 ADQ32250 XM_005272932 XP_005272989 NM_145277 NP_660320 NM_202004 NP_973733 NM_213652 NP_998817 NM_213653 NP_998818
|
| Function |
Member of the repulsive guidance molecule (RGM) family. Involved in iron metabolism. Acts as a bone morphogenetic protein (BMP) coreceptor (By similarity). Enhancement of BMP signaling regulates hepcidin (HAMP) expression and iron metabolism (By similarity). May cooperate with hepcidin to restrict iron absorption in the gut. Could represent the cellular receptor for hepcidin. {ECO:0000250}.
|
| Subcellular Location |
Cell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}.
|
| Tissue Specificity |
Adult and fetal liver, heart, and skeletal muscle. {ECO:0000269|PubMed:14647275}.
|
