HFE

Gene Name		hemochromatosis
Image
Gene Ontology Annotations	Cellular Component	Early Endosome Plasma Membrane Integral Component Of Plasma Membrane Cytoplasmic Vesicle MHC Class I Protein Complex Apical Part Of Cell Basal Part Of Cell Perinuclear Region Of Cytoplasm Recycling Endosome
	Molecular Function	Antigen Binding Receptor Binding Protein Binding Peptide Antigen Binding
	Biological Process	Positive Regulation Of T Cell Mediated Cytotoxicity Antigen Processing And Presentation Of Peptide Antigen Via MHC Class I Protein Complex Assembly Cellular Iron Ion Homeostasis Immune Response Female Pregnancy Cellular Response To Iron Ion Starvation Antigen Processing And Presentation Hormone Biosynthetic Process Multicellular Organismal Iron Ion Homeostasis Iron Ion Import Into Cell
Pathways
Drugs
Diseases
GWAS		Alcohol consumption (transferrin glycosylation) ( 21665994) Blood pressure ( 21909110) Cardiovascular disease risk factors ( 21943158) Cholesterol, total ( 20686565) Diastolic blood pressure ( 21909115) Glycated hemoglobin levels ( 20858683) Hematocrit ( 19862010) Hematological parameters ( 19820697) Hematology traits ( 23263863 19853236) Hemoglobin ( 19820698 19862010) Hepcidin levels ( 21785125) Hypertension ( 21909115) Iron levels ( 21208937) Iron status biomarkers ( 21483845 21149283 19820699 19084217) LDL cholesterol ( 20686565) Mean corpuscular hemoglobin ( 23263863) Mean corpuscular volume ( 20139978 19862010) Red blood cell traits ( 23446634 20927387 23222517) Systolic blood pressure ( 21909115)
Protein-protein Interactions		3 interactors: B2M TFR2 TFRC
Entrez ID		3077
HPRD ID		01993
Ensembl ID		ENSG00000010704
Uniprot IDs		Q30201 Q6B0J5
PDB IDs		1A6Z 1C42 1DE4
Enriched GO Terms of Interacting Partners?		Iron Ion Homeostasis Transition Metal Ion Homeostasis Metal Ion Homeostasis Ion Homeostasis Iron Ion Transport Cellular Iron Ion Homeostasis Chemical Homeostasis Homeostatic Process Antigen Processing And Presentation Of Exogenous Protein Antigen Via MHC Class Ib, TAP-dependent Leukocyte Differentiation Receptor-mediated Endocytosis Cellular Metal Ion Homeostasis Cellular Cation Homeostasis Cellular Ion Homeostasis Response To Drug Cellular Chemical Homeostasis Viral Process Iron Ion Import Positive Regulation Of Bone Resorption Hemopoiesis Endocytosis Protein Refolding Cellular Homeostasis Immune System Development Regulation Of Defense Response To Virus By Virus Positive Regulation Of Tissue Remodeling Metal Ion Transport Transferrin Transport Regulation Of Bone Resorption Regulation Of Bone Remodeling Osteoclast Differentiation Cellular Response To Drug Cation Transport Response To Cadmium Ion Retina Homeostasis Antigen Processing And Presentation Of Exogenous Peptide Antigen Via MHC Class I, TAP-independent Regulation Of Tissue Remodeling T Cell Differentiation In Thymus Regulation Of Defense Response To Virus Positive Regulation Of T Cell Mediated Cytotoxicity Vesicle-mediated Transport Regulation Of T Cell Mediated Cytotoxicity Positive Regulation Of Leukocyte Mediated Cytotoxicity Positive Regulation Of T Cell Mediated Immunity Positive Regulation Of Cell Killing Regulation Of Leukocyte Mediated Cytotoxicity Antigen Processing And Presentation Of Exogenous Peptide Antigen Via MHC Class I, TAP-dependent Antigen Processing And Presentation Of Exogenous Peptide Antigen Via MHC Class I Myeloid Leukocyte Differentiation Interferon-gamma-mediated Signaling Pathway
Tagcloud ?		25th 4th 75th alt aminotransferase ast bmi c282y crp dbp fasts hispanic homa homozygosity homozygotes lymphocytes missing overnight percentiles postscreening pressures quartile quartiles saturation sbp sf transferrin ts whites