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HFE Gene

protein-coding   GIFtS: 60
GCID: GC06P026087

Hemochromatosis

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
hemochromatosis1 2     HH2
HLA-H2 3 5     Hereditary Hemochromatosis Protein2
High Fe1 2     Hereditary Hemochromatosis Protein HLA-H2
HFE12 5     MHC Class I-Like Protein HFE2
MVCD72 5     HLAH3
TFQTL22 5     

External Ids:    HGNC: 48861   Entrez Gene: 30772   Ensembl: ENSG000000107047   OMIM: 6136095   UniProtKB: Q302013   

Export aliases for HFE gene to outside databases

Previous GC identifers: GC06P026130 GC06P026195 GC06P026030


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HFE Gene:
The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates
with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by
regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary
haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine
alternatively spliced variants have been described for this gene. Additional variants have been found but their
full-length nature has not been determined. (provided by RefSeq, Jul 2008)

GeneCards Summary for HFE Gene:
HFE (hemochromatosis) is a protein-coding gene. Diseases associated with HFE include hemochromatosis, and hfe-associated hereditary hemochromatosis. GO annotations related to this gene include peptide antigen binding and receptor binding. An important paralog of this gene is HLA-F.

UniProtKB/Swiss-Prot: HFE_HUMAN, Q30201
Function: Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin

Gene Wiki entry for HFE Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HFE gene promoter:
         C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHFE promoter sequence
   Search Chromatin IP Primers for HFE

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HFE


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p22.2   HGNC cytogenetic band: 6p21.3

HFE Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HFE gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P026087:  view genomic region     (about GC identifiers)

Start:
26,087,509 bp from pter      End:
26,098,571 bp from pter
Size:
11,063 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: HFE_HUMAN, Q30201 (See protein sequence)
Recommended Name: Hereditary hemochromatosis protein precursor  
Size: 348 amino acids; 40108 Da
Subunit: Binds TFR through the extracellular domain in a pH-dependent manner
3 PDB 3D structures from and Proteopedia for HFE:
1A6Z (3D)        1C42 (3D)        1DE4 (3D)    
Secondary accessions: B2CKL0 O75929 O75930 O75931 Q17RT0 Q96KU5 Q96KU6 Q96KU7 Q96KU8 Q9HC64
Q9HC68 Q9HC70 Q9HC83
Alternative splicing: 11 isoforms:  Q30201-1   Q30201-2   Q30201-3   Q30201-4   Q30201-5   Q30201-6   Q30201-7   Q30201-8   
Q30201-9   Q30201-10   Q30201-11   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HFE: NX_Q30201

Explore proteomics data for HFE at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn110, Asn130, Asn234
  • Modification sites at PhosphoSitePlus

  • See HFE Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (9 alternative transcripts): 
    NP_000401.1  NP_620572.1  NP_620573.1  NP_620575.1  NP_620576.1  NP_620577.1  NP_620578.1  NP_620579.1  
    NP_620580.1  

    ENSEMBL proteins: 
     ENSP00000380217   ENSP00000312342   ENSP00000315936   ENSP00000259699   ENSP00000313776  
     ENSP00000417404   ENSP00000419725   ENSP00000337819   ENSP00000420802   ENSP00000420559  
     ENSP00000311698   ENSP00000417534  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    C1SET: Immunoglobulin superfamily / C1-set domain containing

    Selected InterPro protein domains (see all 8):
     IPR011162 MHC_I/II-like_Ag-recog
     IPR013783 Ig-like_fold
     IPR003597 Ig_C1-set
     IPR007110 Ig-like_dom
     IPR003006 Ig/MHC_CS

    Graphical View of Domain Structure for InterPro Entry Q30201

    ProtoNet protein and cluster: Q30201

    2 Blocks protein domains:
    IPB001039 MHC class I signature
    IPB003597 Immunoglobulin C-type


    UniProtKB/Swiss-Prot: HFE_HUMAN, Q30201
    Similarity: Belongs to the MHC class I family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain


    HFE for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HFE_HUMAN, Q30201
    Function: Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin

         Genatlas biochemistry entry for HFE:
    HFE protein,defective in HH normally expressed in cryptal enterocytes of the duodenum and in placenta,complexing
    with beta 2 microglobulin and transferrin receptor (TFR2),negative modulator of the uptake of transferrin-bound
    iron from plasma

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003823antigen binding IBA--
    GO:0005102receptor binding IPI10638746
    GO:0005515protein binding IPI10638746
    GO:0042605peptide antigen binding IEA--
         
    HFE for ontologies           About GeneDecksing


    Phenotypes:
         12 MGI mutant phenotypes (inferred from 10 alleles(MGI details for Hfe):
     behavior/neurological  cellular  digestive/alimentary  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  limbs/digits/tail  liver/biliary system  mortality/aging 
     nervous system  normal 

    HFE for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for HFE: Hfetm2Nca Hfetm1Gfn Hfetm1.1Gfn Hfetm1.1Wsr Hfetm1Sly

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    SwitchGear 3'UTR luciferase reporter plasmidHFE 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HFE_HUMAN, Q30201: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    plasma membrane4
    extracellular3
    endoplasmic reticulum2
    golgi apparatus1
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005769early endosome IDA15880641
    GO:0005886plasma membrane TAS10638746
    GO:0005887integral component of plasma membrane TAS10638746
    GO:0031410cytoplasmic vesicle IDA15880641
    GO:0042612MHC class I protein complex IEA--

    HFE for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HFE
    Interactions:

        GeneGlobe Interaction Network for HFE

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for HFE (Q302011, 2, 3 ENSP000004174044) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    B2MP617691, 2, 3, ENSP000003408584EBI-1028850,EBI-714718 MINT-7896236 MINT-7896218 I2D: score=4 STRING: ENSP00000340858
    HSPA5P110212, 3, ENSP000003241734MINT-7896149 I2D: score=1 STRING: ENSP00000324173
    TFP027872, 3, ENSP000002649984MINT-7896348 MINT-7896317 MINT-7896366 MINT-7896258 MINT-7896330 I2D: score=2 STRING: ENSP00000264998
    TFRCP027862, 3, ENSP000003532244MINT-7896162 I2D: score=5 STRING: ENSP00000353224
    TFR2Q9UP523, ENSP000002230514I2D: score=3 STRING: ENSP00000223051
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001916positive regulation of T cell mediated cytotoxicity IEA--
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I IEA--
    GO:0006461protein complex assembly TAS10638746
    GO:0006879cellular iron ion homeostasis TAS10638746
    GO:0006955immune response IEA--

    HFE for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for HFE

    2 HMDB Compounds for HFE    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    IronArmco iron (see all 19)7439-89-6--

    Selected Novoseek inferred chemical compound relationships for HFE gene (see all 31)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iron 93.7 1571 12429850 (8), 10984552 (7), 10772870 (7), 12149232 (7) (see all 99)
    nash 57.6 26 10488699 (5), 19267193 (4), 15637751 (2), 17680648 (2) (see all 9)
    uroporphyrin 55.7 1 11172342 (1)
    rsai 50.7 1 11436126 (1)
    hemosiderin 36.8 1 14972004 (1)
    aspartate 24 4 16615007 (1), 17134494 (1), 11059064 (1), 11427792 (1)
    cysteine 15.6 8 9873093 (1), 12712648 (1), 15223008 (1), 14740507 (1) (see all 8)
    5-aminolevulinic acid 15.6 3 11172342 (2), 11202050 (1)
    alanine 8.95 3 16615007 (1), 18593631 (1), 11427792 (1)
    oligonucleotide 5.32 1 11017930 (1)



    HFE for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HFE gene (11 alternative transcripts): 
    NM_000410.3  NM_139003.2  NM_139004.2  NM_139006.2  NM_139007.2  NM_139008.2  NM_139009.2  NM_139010.2  
    NM_139011.2  NM_139002.2  NM_139005.2  

    Unigene Cluster for HFE:

    Hemochromatosis
    Hs.233325  [show with all ESTs]
    Unigene Representative Sequence: NM_000410
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397022 ENST00000353147 ENST00000352392 ENST00000349999 ENST00000317896(uc003ngb.1 uc003ngc.1 uc003nge.1 uc003ngf.1)
    ENST00000483782 ENST00000357618(uc003nfy.1 uc010jqe.1 uc003nfz.1 uc003nfx.1 uc003ngd.1 uc003nga.1)
    ENST00000470149 ENST00000336625 ENST00000486147 ENST00000461397 ENST00000488199
    ENST00000309234 ENST00000485729
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    SwitchGear 3'UTR luciferase reporter plasmidHFE 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF079407.1 AF079408.1 AF079409.1 AF115264.1 AF115265.1 AF144240.1 AF144242.1 AF149804.1 
    AJ249335.1 AJ249336.1 AJ249337.1 AJ249338.1 AJ250635.1 AJ298839.1 AJ298840.1 AJ404378.1 
    AK123489.1 AK293393.1 AK300933.1 AK316502.1 AY205604.1 BC074721.2 BC117201.1 BC117203.1 
    BC143887.1 

    8 DOTS entries:

    DT.100783479  DT.100783486  DT.95271885  DT.100783480  DT.100783483  DT.70104039  DT.87015035  DT.91759729 

    Selected AceView cDNA sequences (see all 69):

    AU279987 NM_139010 NM_139005 NM_139004 AF109385 AF079408 BM751283 AF147392 
    BC074721 CB529554 AJ250635 AJ249335 AF079407 AJ249336 NM_139009 AF115265 
    AY205604 AJ298839 AJ298840 AF079409 NM_139002 NM_000410 NM_139008 BX106516 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HFE (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c · 7d
    SP1:                                                  -           -                                 
    SP2:                                            -                 -                                 
    SP3:                          -                 -                 -                                 
    SP4:                                            -     -           -                                 
    SP5:                                      -     -                 -                                 


    ECgene alternative splicing isoforms for HFE

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HFE expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HFE Expression
    About this image

    HFE Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HFE Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.233325

    UniProtKB/Swiss-Prot: HFE_HUMAN, Q30201
    Tissue specificity: Expressed in all tissues tested except brain

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for HFE gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hfe1 , 5 hemochromatosis1, 5 77.23(n)1
    71.12(a)1
      13 (9.88 cM)5
    152161  NM_010424.41  NP_034554.21 
     237020345 
    chicken
    (Gallus gallus)
    Aves --
    --
    (see all 17)
    Uncharacterized protein
    (see all 17)
    31(a)
    31(a)
    (see all 17)
    many ↔ many
    many ↔ many
    (see all 17)
    16(366619-369245)
    16(380198-384541)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 20)
    Uncharacterized protein
    (see all 20)
    39(a)
    38(a)
    (see all 20)
    many ↔ many
    many ↔ many
    (see all 20)
    AAWZ02040156(3915-5955)
    AAWZ02038573(7544-9660)


    ENSEMBL Gene Tree for HFE (if available)
    TreeFam Gene Tree for HFE (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HFE gene
    HLA-F2  MR12  FCGRT2  HLA-B2  HLA-E2  HLA-C2  HLA-A2  HLA-G2  
    AZGP12  
    Selected SIMAP similar genes for HFE using alignment to 42 protein entries:     HFE_HUMAN (see all proteins) (see all similar genes):
    HLA-Cw2    HLA-ABC    HLA-A*0201V3    HLA-A*01    HLA-F    HLA-A24AK
    FLJ45422    MR1    HLA-A*33    HLA-B41    HLA-A*31    HLA
    HLA-Bw62.4    DKFZp686N10220    MHC    HLA-A*02    HLA-A*0226    B-1510

    HFE for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    HFE_HUMAN, Q30201: Genetic variations in HFE define the transferrin serum level quantitative trait locus 2 (TFQTL2)
    [MIM:614193]. Iron is essential for biochemical functions such as oxygen transport and oxidative phosphorylation.
    Excessive iron can cause iron-overload-related liver diseases, whereas iron deficiency can lead to anemia. Iron
    status can be assessed by measuring the levels of serum iron, serum transferrin, transferrin saturation with
    iron, and serum ferritin


    Selected SNPs for HFE (see all 269)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs18007301,2,,4
    C,FHemochromatosis 1 (HFE1)4 pathogenic126013592(+) ATGAGA/TGTCGC 14 S C mis1 int13Minor allele frequency- T:0.01NA EU 5995
    rs289345971,2,,4
    CHemochromatosis 1 (HFE1)4 pathogenic126013676(+) TGAAAC/GGGTGG 14 R G mis1 int1 ese30--------
    rs289345961,2,,4
    CHemochromatosis 1 (HFE1)4 pathogenic126013713(+) GACTAC/TTATGG 14 T I mis1 int1 ese30--------
    rs289345951,2,,4
    CHemochromatosis 1 (HFE1)4 pathogenic126013989(+) ATGCAA/CGAAGA 14 Q H mis1 int10--------
    rs18005621,2,,4
    C,F,HHemochromatosis 1 (HFE1)4 pathogenic126015547(+) TACGTG/ACCAGG 17 /Y /C mis1 int1 ese333Minor allele frequency- A:0.05MN NA EA NS EU 8755
    rs1431752211,2,,4
    C,FHemochromatosis 1 (HFE1)4 --26015586(+) CATTGT/CGATCT 17 /A /V mis1 int11Minor allele frequency- C:0.00NA 4552
    VAR_0425104
    Hemochromatosis 1 (HFE1)4--see VAR_0425102 R G mis40--------
    VAR_0373044
    Hemochromatosis 1 (HFE1)4--see VAR_0373042 Q P mis40--------
    VAR_0425074
    Hemochromatosis 1 (HFE1)4--see VAR_0425072 G D mis40--------
    VAR_0425064
    Hemochromatosis 1 (HFE1)4--see VAR_0425062 R S mis40--------

    HapMap Linkage Disequilibrium report for HFE (26087509 - 26098571 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for HFE:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv428137CNV Loss18775914

    Human Gene Mutation Database (HGMD): HFE
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HFE
    DNA2.0 Custom Variant and Variant Library Synthesis for HFE

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613609   
    OMIM disorders: 235200  612635  176200  176100  104300  614193  
    UniProtKB/Swiss-Prot: HFE_HUMAN, Q30201
  • Hemochromatosis 1 (HFE1) [MIM:235200]: A disorder of iron metabolism characterized by iron overload.
    Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses
    including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe
    effects of the disease usually do not appear until after decades of progressive iron loading. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Variegate porphyria (VP) [MIM:176200]: A form of porphyria. Porphyrias are inherited defects in the
    biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin
    precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs
    in red blood cells or in the liver. Variegate porphyria is the most common form of porphyria in South Africa. It
    is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and
    neuromuscular disturbances. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins
    and iron overload are typical markers of the disease. Note=Disease susceptibility is associated with variations
    affecting the gene represented in this entry. Iron overload due to HFE variants is a precipitating or
    exacerbating factor in variegate porphyria
  • Microvascular complications of diabetes 7 (MVCD7) [MIM:612635]: Pathological conditions that develop in
    numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic
    nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major
    cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased
    tissue ischemia and angiogenesis. Note=Disease susceptibility is associated with variations affecting the gene
    represented in this entry

  • Selected diseases for HFE (see all 139):    About MalaCards
    hemochromatosis    hfe-associated hereditary hemochromatosis    iron metabolism disease    nonalcoholic steatohepatitis
    variegate porphyria    hemochromatosis, type 3    hyperferritinemia cataract syndrome    microvascular complications of diabetes 7
    porphyria cutanea tarda    hemosiderosis    alzheimer's disease    hemophilic arthropathy
    fatty liver disease    childhood leukemia    siderosis    pyruvate kinase deficiency
    lead poisoning    arthropathy    wilson disease    porphyria

    12 diseases from the University of Copenhagen DISEASES database for HFE:
    Hemochromatosis     Porphyria cutanea tarda     Liver disease     Iron metabolism disease
    Siderosis     Autosomal recessive disease     Hepatitis C     Anemia
    Genetic disorder     Arthropathy     Fatty liver disease     Diabetes mellitus

    HFE for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for HFE gene (see all 96)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hereditary hemochromatosis 98.6 401 12547214 (4), 10349514 (3), 15280838 (3), 11358390 (3) (see all 99)
    hemochromatosis 98.3 533 11358388 (6), 12949720 (5), 10772870 (4), 10403350 (3) (see all 99)
    iron overload 97.5 378 12792703 (4), 9922318 (3), 10942923 (3), 19433916 (3) (see all 99)
    hemochromatosis, juvenile 90.5 8 17540536 (1), 12547233 (1), 17951290 (1), 15710580 (1) (see all 7)
    porphyria cutanea tarda 85.6 44 15280838 (5), 9551677 (5), 11427792 (3), 19001803 (2) (see all 24)
    african iron overload 85.4 5 10989544 (1), 12382201 (1), 11722599 (1), 17335681 (1)
    hemochromatosis, type 3 83.8 2 17298224 (1), 11778658 (1)
    iron disorder 81.4 2 11960574 (1), 11358390 (1)
    siderosis 72.6 13 19931264 (1), 17635368 (1), 20064187 (1), 12297827 (1) (see all 11)
    cirrhosis 71.9 35 17101320 (2), 11500061 (2), 12003382 (2), 12865278 (2) (see all 28)

    Genatlas disease: HFE
    hemochromatosis,adult form,characterized by increased iron absorption of dietary iron leading to iron
    accumulation and cirrhosis of the liver,diabetes mellitus,skin pigmentation,cardiac arrhythmia and failure and
    arthropathy,excluding juvenile form,with increased risk of acute myocardial infarction in carriers of the
    Cys282Tyr mutation

    GeneTests: HFE
    GeneReviews: HFE
    Genetic Association Database (GAD): HFE
    Human Genome Epidemiology (HuGE) Navigator: HFE (600 documents)

    Export disorders for HFE gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HFE gene, integrated from 10 sources (see all 1281):
    (articles sorted by number of sources associating them with HFE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload. (PubMed id 14633868)1, 2, 4, 9 Biasiotto G.... Arosio P. (Clin. Chem. 2003)
    2. Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. (PubMed id 19084217)1, 2, 4, 9 Benyamin B....Visscher P.M. (Am. J. Hum. Genet. 2009)
    3. Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy. (PubMed id 11423500)1, 2, 4, 9 Moczulski D.K.... Gawlik B. (Diabetes Care 2001)
    4. Comprehensive hereditary hemochromatosis genotyping. (PubMed id 12542741)1, 2, 4, 9 Jones D.C.... Bunce M. (Tissue Antigens 2002)
    5. Influence of HFE variants and cellular iron on monocyte chemoattractant protein-1. (PubMed id 19228389)1, 4, 9 Mitchell R.M....Connor J.R. (J Neuroinflammation 2009)
    6. Association between hemochromatosis genotype and lead exposure among elderly men: the normative aging study. (PubMed id 15121519)1, 4, 9 Wright R.O....Hu H. (Environ. Health Perspect. 2004)
    7. HFE genotype, parenchymal iron accumulation, and liver fibrosis in patients with nonalcoholic fatty liver disease. (PubMed id 19931264)1, 4, 9 Valenti L....Fargion S. (Gastroenterology 2010)
    8. Roles of iron and HFE mutations on severity and response to therapy during retreatment of advanced chronic hepatitis C. (PubMed id 17101320)1, 4, 9 Bonkovsky H.L....Morishima C. (Gastroenterology 2006)
    9. Differences in hepatic phenotype between hemochromatosis patients with HFE C282Y homozygosity and other HFE genotypes. (PubMed id 19359997)1, 4, 9 Cheng R....Kowdley K.V. (J. Clin. Gastroenterol. 2009)
    10. Noncitrus fruits as novel dietary environmental modifiers of iron stores in people with or without HFE gene mutations. (PubMed id 18452683)1, 4, 9 Milward E.A....Olynyk J.K. (Mayo Clin. Proc. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3077 HGNC: 4886 AceView: HFE Ensembl:ENSG00000010704 euGenes: HUgn3077
    ECgene: HFE H-InvDB: HFE

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HFE Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for HFE Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HFE[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/hfe/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HFE gene:
    Search GeneIP for patents involving HFE

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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