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MGP006639

UniProt Annotations

Entry Information
Gene Namehemochromatosis type 2 (juvenile)
Protein EntryRGMC_HUMAN
UniProt IDQ6ZVN8
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=a; IsoId=Q6ZVN8-1; Sequence=Displayed; Name=b; IsoId=Q6ZVN8-2; Sequence=VSP_011319; Name=c; IsoId=Q6ZVN8-3; Sequence=VSP_011320;
DiseaseHemochromatosis 2A (HFE2A) [MIM:602390]: A juvenile form of hemochromatosis, a disorder of iron metabolism with excess deposition of iron in a variety of organs leading to their failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of juvenile hemochromatosis at presentation are hypogonadism and cardiomyopathy. {ECO:0000269|PubMed:14647275, ECO:0000269|PubMed:14982867, ECO:0000269|PubMed:14982873, ECO:0000269|PubMed:15461631}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionMember 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}.
PtmAutocatalytically cleaved at low pH; the two chains remain linked via two disulfide bonds. {ECO:0000250}.
SimilarityBelongs to the repulsive guidance molecule (RGM) family. {ECO:0000305}.
Subcellular LocationCell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}.
SubunitInteracts with BMP2 and BMP4 (By similarity). Interacts with BMPR1B. Interacts with TMPRSS6. {ECO:0000250, ECO:0000269|PubMed:16604073, ECO:0000269|PubMed:19357398}.
Tissue SpecificityAdult and fetal liver, heart, and skeletal muscle. {ECO:0000269|PubMed:14647275}.
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