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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]
Transporters Accessory Factors Involved in Transport MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Potential drug targets
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GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0002092 [positive regulation of receptor internalization] GO:0002262 [myeloid cell homeostasis] GO:0005102 [receptor binding] GO:0005179 [hormone activity] GO:0005507 [copper ion binding] GO:0005576 [extracellular region] GO:0005615 [extracellular space] GO:0005623 [cell] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0006879 [cellular iron ion homeostasis] GO:0006955 [immune response] GO:0007259 [JAK-STAT cascade] GO:0010039 [response to iron ion] GO:0031640 [killing of cells of other organism] GO:0032413 [negative regulation of ion transmembrane transporter activity] GO:0033619 [membrane protein proteolysis] GO:0034760 [negative regulation of iron ion transmembrane transport] GO:0042742 [defense response to bacterium] GO:0043032 [positive regulation of macrophage activation] GO:0045179 [apical cortex] GO:0045779 [negative regulation of bone resorption] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0050728 [negative regulation of inflammatory response] GO:0050832 [defense response to fungus] GO:0055072 [iron ion homeostasis] GO:0060586 [multicellular organismal iron ion homeostasis] GO:0097690 [iron channel inhibitor activity] GO:1902916 [positive regulation of protein polyubiquitination] GO:1903364 [positive regulation of cellular protein catabolic process] GO:1904039 [negative regulation of ferrous iron export] GO:1904255 [negative regulation of iron channel activity] GO:1904479 [negative regulation of intestinal absorption] GO:2000646 [positive regulation of receptor catabolic process]
Transporters Accessory Factors Involved in Transport MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Potential drug targets
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0002092 [positive regulation of receptor internalization] GO:0005102 [receptor binding] GO:0005179 [hormone activity] GO:0005576 [extracellular region] GO:0005615 [extracellular space] GO:0005623 [cell] GO:0006879 [cellular iron ion homeostasis] GO:0006955 [immune response] GO:0010039 [response to iron ion] GO:0031640 [killing of cells of other organism] GO:0032413 [negative regulation of ion transmembrane transporter activity] GO:0042742 [defense response to bacterium] GO:0060586 [multicellular organismal iron ion homeostasis] GO:0097690 [iron channel inhibitor activity] GO:1902916 [positive regulation of protein polyubiquitination] GO:1904039 [negative regulation of ferrous iron export] GO:1904255 [negative regulation of iron channel activity] GO:1904479 [negative regulation of intestinal absorption] GO:2000646 [positive regulation of receptor catabolic process]
