Gene: HFE

3077
HFE1|HH|HLA-H|MVCD7|TFQTL2
homeostatic iron regulator
protein-coding
6p22.2
Ensembl:ENSG00000010704 MIM:613609 Vega:OTTHUMG00000016348 UniprotKB:Q30201
NG_008720.2
PubMed|SNP Mapped
ND|AD
43   
NA (AD)  NA (ND)   (Frontal_Cortex)
2.825e-1 (AD)  5.500e-1 (ND)

ANCO-SNPs

SNP ID Position Alleles Trait Variation Type
rs1800562chr6:26092913 (GRCh38.p7)G>Aalcohol dependenceSNV(Single Nucleotide Variation)

DNA Methylation

There is no related methylation information for this gene.

Gene Expression in Different Tissues

Temporal and Spatial Expressions (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes average value of the expressions.

Top Co-expressed Genes in Brain-Frontal Cortex (BA9) (GTEx v7)

Top 10 positively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
CD3020.848
TGFBR30.819
CD1090.806
CDC14A0.801
LEPROT0.8
RREB10.798
SULT1C40.797
AHNAK0.797
CYBRD10.794
ITPR20.792

Top 10 negatively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
GALNT14-0.518
ABCC12-0.48
BCL11A-0.474
KCNB2-0.472
HAS1-0.469
MRAP2-0.467
RHO-0.464
MCHR1-0.462
B3GNT4-0.457
CALHM1-0.456

Drugs/Compounds

    There is no DrugBank record for this gene !

ID Drug Name Action PubMed
C496492abrineabrine results in increased expression of HFE mRNA22595364
D000082AcetaminophenAcetaminophen results in decreased expression of HFE mRNA29067470
D000082AcetaminophenAcetaminophen affects the expression of HFE mRNA17562736
D020106AcrylamideAcrylamide results in increased expression of HFE mRNA28959563
D000393Air PollutantsAir Pollutants analog results in decreased expression of HFE mRNA21757418
D000393Air PollutantsHFE gene polymorphism affects the susceptibility to Air Pollutants20194081
D000643Ammonium ChlorideAmmonium Chloride affects the expression of HFE mRNA16483693
D018501Antirheumatic AgentsAntirheumatic Agents results in decreased expression of HFE mRNA24449571
C006632arsenic trioxideHFE protein results in decreased susceptibility to arsenic trioxide20707922
D001280AtrazineAtrazine results in decreased expression of HFE mRNA25929836
D001564Benzo(a)pyreneBenzo(a)pyrene results in increased expression of HFE mRNA19770486|2222880
D004958EstradiolEstradiol affects the expression of HFE mRNA16684588
C006780bisphenol A[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of HFE mRNA28628672
C006780bisphenol Abisphenol A affects the expression of HFE mRNA25181051
C018475butyraldehydebutyraldehyde results in decreased expression of HFE mRNA26079696
D019256Cadmium ChlorideCadmium Chloride results in increased expression of HFE mRNA21540277
C030583ceric oxideceric oxide analog results in decreased expression of HFE mRNA24821434
C012843cinnamic aldehydecinnamic aldehyde results in increased expression of HFE mRNA19524605
C018021cobaltous chloridecobaltous chloride results in decreased expression of HFE mRNA19376846
C060728cobalt oxidecobalt oxide analog results in increased expression of HFE mRNA24821434
D003300CopperCopper results in increased expression of HFE mRNA16629173
D003300CopperHFE protein affects the abundance of Copper18317567
D016572CyclosporineCyclosporine results in increased expression of HFE mRNA22147139
C010902decabromobiphenyl etherdecabromobiphenyl ether results in increased expression of HFE mRNA23914054
D003907Dexamethasone[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of HFE mRNA28628672
D002945Cisplatin[Cisplatin co-treated with jinfukang] results in increased expression of HFE mRNA27392435
D018119StavudineHFE gene SNP affects the susceptibility to [Didanosine co-treated with Stavudine]16847405
D016049DidanosineHFE gene SNP affects the susceptibility to [Didanosine co-treated with Stavudine]16847405
D004317DoxorubicinHFE protein inhibits the reaction [Doxorubicin results in increased activity of CASP3 protein]16823846
C118739entinostatentinostat results in increased expression of HFE mRNA27188386
D004997Ethinyl EstradiolEthinyl Estradiol affects the expression of HFE mRNA17555576
D004997Ethinyl EstradiolEthinyl Estradiol results in increased expression of HFE mRNA17942748
D004997Ethinyl Estradiol[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of HFE mRNA17942748
D005038EthylnitrosoureaEthylnitrosourea results in increased mutagenesis of HFE mRNA27776689
D028441F2-Isoprostanes[HFE gene mutant form co-treated with TFR2 gene mutant form] results in increased abundance of F2-Isoprostanes22383097
D028441F2-IsoprostanesHFE gene mutant form results in increased abundance of F2-Isoprostanes22383097
D005839GentamicinsGentamicins results in increased expression of HFE mRNA22061828
D005978GlutathioneGlutathione deficiency results in increased expression of HFE mRNA15345336
D017313FenretinideFenretinide results in decreased expression of HFE mRNA28973697
D006830Hydralazine[Hydralazine co-treated with Valproic Acid] results in increased expression of HFE mRNA17183730
D007213Indomethacin[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of HFE mRNA28628672
D007501IronHFE gene mutant form results in increased abundance of Iron17101320
D007501IronHFE gene mutant form results in increased uptake of Iron17101320
D007501IronHFE gene polymorphism affects the abundance of Iron16877869
D007501IronHFE gene polymorphism results in increased abundance of Iron17047092
D007501IronHFE protein affects the abundance of Iron12393473
D007501IronHFE protein affects the susceptibility to Iron16893896
D007501Iron[HFE protein binds to B2M protein binds to SLC11A2 protein] which results in decreased uptake of Iron16841247
D007501Iron[HFE protein binds to TFR2 protein] which affects the susceptibility to Iron16893896
D007501IronHFE protein inhibits the reaction [TFRC protein results in increased uptake of Iron]10085150
D007501IronHFE protein results in decreased uptake of Iron16823846|1684124
D007501IronTNF gene SNP promotes the reaction [HFE protein mutant form results in increased uptake of Iron]16793930
D007501Iron[HFE gene mutant form co-treated with TFR2 gene mutant form] results in increased abundance of Iron22383097
D007501IronHFE protein affects the abundance of Iron18317567
D007501IronHFE protein affects the metabolism of Iron17194590
D0150561-Methyl-3-isobutylxanthine[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of HFE mRNA28628672
D007545IsoproterenolIsoproterenol results in increased expression of HFE mRNA20003209
C544151jinfukang[Cisplatin co-treated with jinfukang] results in increased expression of HFE mRNA27392435
C544151jinfukangjinfukang results in increased expression of HFE mRNA27392435
D007854LeadHFE gene polymorphism affects the susceptibility to Lead19165391|2596350
D007854LeadHFE protein polymorphism results in increased susceptibility to Lead20478760
D007854LeadHFE gene polymorphism affects the susceptibility to Lead20659343
C008261lead acetatelead acetate results in decreased expression of HFE mRNA21829687
D008054Lipid Peroxides[HFE gene mutant form co-treated with TFR2 gene mutant form] results in increased abundance of Lipid Peroxides22383097
D058185Magnetite Nanoparticles[Succimer co-treated with Magnetite Nanoparticles] results in decreased expression of HFE mRNA26378955
D008345ManganeseHFE protein affects the abundance of Manganese18317567
C025340manganese chlorideHFE gene mutant form inhibits the reaction [manganese chloride results in decreased activity of SOD1 protein]25874029
C025340manganese chlorideHFE gene mutant form results in decreased susceptibility to manganese chloride25874029
D037742Nanotubes, Carbon"Nanotubes, Carbon results in decreased expression of HFE mRNA"25554681
C051752nefazodonenefazodone results in increased expression of HFE mRNA24136188
D010634PhenobarbitalPhenobarbital results in increased expression of HFE mRNA19162173
C006253pirinixic acidpirinixic acid results in increased expression of HFE mRNA19162173
D011285Pregnenolone CarbonitrilePregnenolone Carbonitrile results in increased expression of HFE mRNA19162173
C045950propiconazolepropiconazole results in increased expression of HFE mRNA21278054
C005556propionaldehydepropionaldehyde results in decreased expression of HFE mRNA26079696
D012822Silicon DioxideSilicon Dioxide results in increased expression of HFE mRNA23221170
D012834SilverSilver results in increased expression of HFE mRNA27131904
D012906SmokeSmoke results in decreased expression of HFE mRNA21095227
C017947sodium arsenitesodium arsenite results in increased expression of HFE mRNA22714537
D053260SootHFE gene polymorphism affects the susceptibility to Soot20194081
D004113Succimer[Succimer co-treated with Magnetite Nanoparticles] results in decreased expression of HFE mRNA26378955
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin affects the expression of HFE mRNA21570461
D013749Tetrachlorodibenzodioxin[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of HFE mRNA17942748
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin promotes the reaction [AHR protein binds to HFE gene]28213091
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin results in decreased expression of HFE mRNA28213091
D013853ThioacetamideThioacetamide results in decreased expression of HFE mRNA23411599
C483909torcetrapibtorcetrapib results in increased expression of HFE mRNA23228038
C032910triadimefontriadimefon results in increased expression of HFE mRNA16730040
D014635Valproic Acid[Hydralazine co-treated with Valproic Acid] results in increased expression of HFE mRNA17183730
D001335Vehicle EmissionsHFE gene polymorphism affects the susceptibility to Vehicle Emissions20194081
D001335Vehicle EmissionsVehicle Emissions results in increased methylation of HFE gene25560391
D015032ZincHFE protein affects the abundance of Zinc18317567
C017803zinc protoporphyrinHFE gene polymorphism affects the abundance of zinc protoporphyrin25963508

GO/Pathway

GO ID GO Term Qualifier Evidence PubMed
GO:0005102signaling receptor binding-IPI10638746  24904118  
GO:0005515protein binding-IPI15880641  15965644  20618438  
GO:0030881beta-2-microglobulin binding-IPI9465039  9546397  9990067  
GO:0039706co-receptor binding-IPI22728873  
GO:0042605peptide antigen bindingNOTIDA9546397  
GO:0042605peptide antigen bindingNOTIKR8696333  
GO:0046703natural killer cell lectin-like receptor binding-IBA21873635  
GO:1990459transferrin receptor binding-IPI9465039  9546397  9990067  18353247  22728873  
GO ID GO Term Qualifier Evidence PubMed
GO:0001913T cell mediated cytotoxicity-IBA21873635  
GO:0002474antigen processing and presentation of peptide antigen via MHC class INOTIKR8696333  
GO:0002626negative regulation of T cell antigen processing and presentation-IEA-  
GO:0002725negative regulation of T cell cytokine production-IGI24643698  
GO:0006879cellular iron ion homeostasis-TAS10638746  
GO:0006953acute-phase response-IEA-  
GO:0006955immune response-IBA21873635  
GO:0007565female pregnancy-IEA-  
GO:0010039response to iron ion-IMP21173098  
GO:0010106cellular response to iron ion starvation-IEA-  
GO:0010628positive regulation of gene expression-ISS-  
GO:0010862positive regulation of pathway-restricted SMAD protein phosphorylation-IDA24904118  
GO:0019882antigen processing and presentationNOTIC9546397  
GO:0030101natural killer cell activation-IBA21873635  
GO:0030509BMP signaling pathway-IDA24904118  
GO:0032092positive regulation of protein binding-IGI18353247  
GO:0032435negative regulation of proteasomal ubiquitin-dependent protein catabolic process-IC24904118  
GO:0033572transferrin transport-TAS-  
GO:0042267natural killer cell mediated cytotoxicity-IBA21873635  
GO:0042271susceptibility to natural killer cell mediated cytotoxicity-IBA21873635  
GO:0042446hormone biosynthetic process-IEA-  
GO:0048260positive regulation of receptor-mediated endocytosis-IGI18353247  
GO:0055072iron ion homeostasis-IC18353247  
GO:0055072iron ion homeostasis-IMP21173098  
GO:0060586multicellular organismal iron ion homeostasis-IEA-  
GO:0065003protein-containing complex assembly-TAS10638746  
GO:0071281cellular response to iron ion-IGI18353247  
GO:0090277positive regulation of peptide hormone secretion-IMP21173098  
GO:0097421liver regeneration-IEA-  
GO:0098711iron ion import across plasma membrane-IDA10085150  
GO:1900121negative regulation of receptor binding-IDA9465039  
GO:1900122positive regulation of receptor binding-IGI18353247  
GO:1900390regulation of iron ion import-IGI18353247  
GO:1904283negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I-IGI24643698  
GO:1904434positive regulation of ferrous iron binding-IGI18353247  
GO:1904437positive regulation of transferrin receptor binding-IGI18353247  
GO:1990641response to iron ion starvation-IEA-  
GO:2000008regulation of protein localization to cell surface-IMP12704209  
GO:2000059negative regulation of ubiquitin-dependent protein catabolic process-IDA24904118  
GO:2000272negative regulation of signaling receptor activity-IDA9465039  
GO:2000273positive regulation of signaling receptor activity-IGI18353247  
GO:2001186negative regulation of CD8-positive, alpha-beta T cell activation-IGI24643698  
GO ID GO Term Qualifier Evidence PubMed
GO:0005615extracellular space-IDA21173098  
GO:0005769early endosome-IDA15880641  
GO:0005886plasma membrane-IBA21873635  
GO:0005886plasma membrane-TAS-  
GO:0005887integral component of plasma membrane-TAS10638746  
GO:0009897external side of plasma membrane-IDA24904118  
GO:0031410cytoplasmic vesicle-IDA12704209  15880641  
GO:0042612MHC class I protein complexNOTIDA9546397  
GO:0042612MHC class I protein complexNOTIKR8696333  
GO:0045177apical part of cell-IDA15880641  
GO:0045178basal part of cell-IDA15880641  
GO:0048471perinuclear region of cytoplasm-IDA9990067  15880641  
GO:0055037recycling endosome-IDA15880641  
GO:1990357terminal web-IEA-  
GO:1990712HFE-transferrin receptor complex-IDA9465039  9546397  9990067  12704209  22728873  
KEGG ID KEGG Term
Reactome ID Reactome Term Evidence
R-HSA-382551Transport of small moleculesTAS
R-HSA-917937Iron uptake and transportTAS
R-HSA-917977Transferrin endocytosis and recyclingTAS

Interactions (STRING v10.5, Interaction Score >= 0.400)

Publications (Co-occurrence of gene symbol strings and ANCO-Dependence terms)

PMID Title (Year) Author Journal
22422567Clinical cofactors and hepatic fibrosis in hereditary hemochromatosis: the role of diabetes mellitus. (2012 Sep)Wood MJHepatology
11257277A prospective study of coronary heart disease and the hemochromatosis gene (HFE) C282Y mutation: the Atherosclerosis Risk in Communities (ARIC) study. (2001 Feb 15)Rasmussen MLAtherosclerosis
20640879HFE gene mutations increase the risk of coronary heart disease in women. (2010 Sep)Pardo Silva MCEur J Epidemiol
12948285Heterozygosity for the Cys282Tyr mutation in the HFE gene and the risk of colorectal cancer (Netherlands). (2003 Aug)van der A DLCancer Causes Control
11886425Haemochromatosis mutations and ferritin in myocardial infarction: a case-control study. (2002 Mar)Claeys DEur J Clin Invest
12364722Mutations in the hemochromatosis gene (HFE) and stroke. (2002 Oct)Njajou OTStroke
22510500Hepatitis C, porphyria cutanea tarda and liver iron: an update. (2012 Jul)Ryan Caballes FLiver Int
23646229Lymphocyte subsets in alcoholic liver disease. (2013 Feb 27)Matos LCWorld J Hepatol
15990686Hemochromatosis-causing mutations C282Y and H63D are not risk factors for atherothrombotic cerebral infarction. (2005 Jul)Hruskovicova HMed Sci Monit
15139402[Hemochromatosis: the most common of rare diseases]. (2004 Mar)Thielen VRev Med Liege
20478760HFE H63D polymorphism as a modifier of the effect of cumulative lead exposure on pulse pressure: the Normative Aging Study. (2010 Sep)Zhang AEnviron Health Perspect
24988074The effect of the hemochromatosis (HFE) genotype on lead load and iron metabolism among lead smelter workers. (2014)Fan GPLoS One
11855561Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency. (2002 Feb)Egger NGDig Dis Sci
10491369Heterozygosity for a hereditary hemochromatosis gene is associated with cardiovascular death in women. (1999 Sep 21)Roest MCirculation
20101754Hemochromatosis in Italy in the last 30 years: role of genetic and acquired factors. (2010 Feb)Fracanzani ALHepatology
23681825Heme-related gene expression signatures of meat intakes in lung cancer tissues. (2014 Jul)Lam TKMol Carcinog
27170390Pathogenesis, Diagnosis and Treatment of Hemochromatosis. (2016)Zoller HDig Dis
11505030Effects of alcohol consumption on indices of iron stores and of iron stores on alcohol intake markers. (2001 Jul)Whitfield JBAlcohol Clin Exp Res
20957336CYP1A2*1F and GSTM1 alleles are associated with susceptibility to porphyria cutanea tarda. (2011 Mar-Apr)Wickliffe JKMol Med
12957297Hemochromatosis and alcoholic liver disease. (2003 Jun)Fletcher LMAlcohol
22732356Liver hepcidin mRNA expression is inappropriately low in alcoholic patients compared with healthy controls. (2012 Oct)Costa-Matos LEur J Gastroenterol Hepatol
10068114Premalignant lesions and hepatocellular carcinoma in a non-cirrhotic alcoholic patient with iron overload and normal transferrin saturation. (1999 Feb)Blanc JFJ Hepatol
18657084Behavioral, biochemical, and genetic analysis of iron metabolism in high-intensity blood donors. (2008 Oct)Mast AETransfusion
20107990Effects of C282Y, H63D, and S65C HFE gene mutations, diet, and life-style factors on iron status in a general Mediterranean population from Tarragona, Spain. (2010 Aug)Aranda NAnn Hematol
26474245The role of genetic factors in patients with hepatocellular carcinoma and iron overload - a prospective series of 234 patients. (2016 May)Funakoshi NLiver Int
17687451Evidence of genetic effects on blood lead concentration. (2007 Aug)Whitfield JBEnviron Health Perspect
26121922Cumulative lead exposure is associated with reduced olfactory recognition performance in elderly men: The Normative Aging Study. (2015 Jul)Grashow RNeurotoxicology
23990522Diabetes in first-degree family members: a predictor of type 2 diabetes in 159 nonscreening Alabama hemochromatosis probands with HFE C282Y homozygosity. (2014)Barton JCDiabetes Care
14675248Absence of hemochromatosis associated Cys282Tyr HFE gene mutation and low frequency of hemochromatosis phenotype in nonalcoholic chronic liver disease patients in India. (2004 Jan)Thakur VJ Gastroenterol Hepatol
23281741Cancer risk in HFE C282Y homozygotes: results from the HUNT 2 study. (2013 Feb)Asberg AScand J Gastroenterol
14966054Haemochromatosis gene mutations and risk of coronary heart disease: a west of Scotland coronary prevention study (WOSCOPS) substudy. (2004 Mar)Gunn IRHeart
24068123Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients. (2013 Jul-Aug)Vieira FMAn Bras Dermatol
12170286[Hereditary hemochromatosis]. (2001 Jan-Mar)Dantas WRev Gastroenterol Peru
11084432[Premalignant lesions and hepatocellular carcinoma on non cirrhotic liver overloaded with iron]. (2000 Oct)Attia AGastroenterol Clin Biol
25822977Effect of C282Y genotype on self-reported musculoskeletal complications in hereditary hemochromatosis. (2015)Camacho APLoS One
17639389The relationship between iron overload and clinical characteristics in a Spanish cohort of 100 C282Y homozygous hemochromatosis patients. (2007 Nov)Altes AAnn Hematol
19948245Associations among behavior-related susceptibility factors in porphyria cutanea tarda. (2010 Mar)Jalil SClin Gastroenterol Hepatol
18661088Association between iron overload and osteoporosis in patients with hereditary hemochromatosis. (2009 Apr)Valenti LOsteoporos Int
25654085HFE genotyping in patients with elevated serum iron indices and liver diseases. (2015)Evangelista ASBiomed Res Int
22469802Iron biomarkers in plasma, HFE genotypes, and the risk for colorectal cancer in a prospective setting. (2012 Mar)Ekblom KDis Colon Rectum
19034258Hereditary hemochromatosis. (2008 Dec)Fix OKMinerva Med
15121519Association between hemochromatosis genotype and lead exposure among elderly men: the normative aging study. (2004 May)Wright ROEnviron Health Perspect
26840933[Porphyria cutanea tarda: the benefit of additional diagnostics]. (2016)Vossen ARNed Tijdschr Geneeskd