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HFE2 Gene

protein-coding   GIFtS: 62
GCID: GC01P145413

Hemochromatosis Type 2 (Juvenile)

  See HFE2-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
Hemochromatosis Type 2 (Juvenile)1 2     RGM Domain Family Member C2 3
HJV2 3 5     HFE2A2 5
Repulsive Guidance Molecule C1 2     JH2
Hemochromatosis Type 2 Protein2 3     haemojuvelin2
RGMC2 3     hemojuvelin2

External Ids:    HGNC: 48871   Entrez Gene: 1487382   Ensembl: ENSG000001685097   OMIM: 6083745   UniProtKB: Q6ZVN83   

Export aliases for HFE2 gene to outside databases

Previous GC identifers: GC01U990224 GC01P143161 GC01P142902 GC01P144124 GC01P119377


(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 HFE2 Gene:
The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which
activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular
receptor for hepcidin. Alternatively spliced transcript variants encoding different isoforms have been identified
for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile
hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in
hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age
of 30. (provided by RefSeq, Jul 2008)

GeneCards Summary for HFE2 Gene:
HFE2 (hemochromatosis type 2 (juvenile)) is a protein-coding gene. Diseases associated with HFE2 include hemochromatosis type 2, and cardiogenic shock. GO annotations related to this gene include coreceptor activity. An important paralog of this gene is RGMA.

UniProtKB/Swiss-Prot: RGMC_HUMAN, Q6ZVN8
Function: Member 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

Gene Wiki entry for HFE2 (Hemojuvelin) 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 at NCBI GenBank:
NC_000001.10  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HFE2 gene promoter:
         AP-1   ATF-2   E47   HNF-1A   C/EBPalpha   HSF2   HNF-1   c-Jun   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHFE2 promoter sequence
   Search Chromatin IP Primers for HFE2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HFE2


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

Entrez Gene cytogenetic band: 1q21.1   Ensembl cytogenetic band:  1q21.1   HGNC cytogenetic band: 1q21.2

HFE2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HFE2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P145413:  view genomic region     (about GC identifiers)

Start:
145,413,095 bp from pter      End:
145,417,545 bp from pter
Size:
4,451 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: RGMC_HUMAN, Q6ZVN8 (See protein sequence)
Recommended Name: Hemojuvelin precursor  
Size: 426 amino acids; 45080 Da
Subunit: Interacts with BMP2 and BMP4 (By similarity). Interacts with BMPR1B. Interacts with TMPRSS6
Secondary accessions: B1ALI7 Q2PQ63 Q6IMF6 Q8NAH2 Q8WVJ5
Alternative splicing: 3 isoforms:  Q6ZVN8-1   Q6ZVN8-2   Q6ZVN8-3   

Explore the universe of human proteins at neXtProt for HFE2: NX_Q6ZVN8

Explore proteomics data for HFE2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn118, Asn213, Asn372
  • Modification sites at PhosphoSitePlus

  • See HFE2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_660320.3  NP_973733.1  NP_998817.1  NP_998818.1  

    ENSEMBL proteins: 
     ENSP00000350495   ENSP00000411863   ENSP00000337014   ENSP00000421820   ENSP00000425716  
    Reactome Protein details: Q6ZVN8

    HFE2 Human Recombinant Protein Products:

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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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    2 InterPro protein domains:
     IPR009496 RGM_C
     IPR010536 RGM_N

    Graphical View of Domain Structure for InterPro Entry Q6ZVN8

    ProtoNet protein and cluster: Q6ZVN8

    1 Blocks protein domain: IPB009496 Repulsive guidance molecule

    UniProtKB/Swiss-Prot: RGMC_HUMAN, Q6ZVN8
    Similarity: Belongs to the repulsive guidance molecule (RGM) family


    Find genes that share domains with HFE2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RGMC_HUMAN, Q6ZVN8
    Function: Member 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

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19357398
    GO:0015026coreceptor activity IEA--
         
    Find genes that share ontologies with HFE2           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Hfe2):
     cardiovascular system  hematopoietic system  homeostasis/metabolism  immune system  integument 
     liver/biliary system  mortality/aging  renal/urinary system  reproductive system 

    Find genes that share phenotypes with HFE2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Hfe2tm1Nca for HFE2

       genOway: Develop your customized and physiologically relevant rodent model for HFE2

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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
    RGMC_HUMAN, Q6ZVN8: Cell membrane; Lipid-anchor, GPI-anchor (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular3
    cytosol1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--
    GO:0005886plasma membrane IDA16075058
    GO:0009986cell surface IEA--
    GO:0031225anchored component of membrane IEA--

    Find genes that share ontologies with HFE2           About GenesLikeMe


    (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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    SuperPaths for HFE2 About    
    See pathways by source

    SuperPathContained pathways About
    1L1CAM interactions
    Axon guidance0.63
    Developmental Biology0.63
    2Signaling by BMP
    BMP receptor signaling0.31
    3Netrin-1 signaling
    Netrin-1 signaling


    Find genes that share SuperPaths with HFE2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for HFE2
        BMP receptor signaling


    1 Reactome Pathway for HFE2
        Netrin-1 signaling


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HFE2
    Interactions:

        GeneGlobe Interaction Network for HFE2

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

    Selected Interacting proteins for HFE2 (Q6ZVN83 ENSP000003370144) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BMP6P220043I2D: score=1 
    BAMBIENSP000003646834STRING: ENSP00000364683
    BMP2ENSP000003681044STRING: ENSP00000368104
    BMP4ENSP000002454514STRING: ENSP00000245451
    BMPR1BENSP000002645684STRING: ENSP00000264568
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007411axon guidance TAS--
    GO:0030509BMP signaling pathway IEA--
    GO:0045944positive regulation of transcription from RNA polymerase II promoter IEA--
    GO:0055072iron ion homeostasis IGI16075058

    Find genes that share ontologies with HFE2           About GenesLikeMe



    (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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HFE2 (RGMC)

    1 HMDB Compound for HFE2    About this table
    CompoundSynonyms CAS #PubMed Ids
    IronArmco iron (see all 19)7439-89-6--

    1 Novoseek inferred chemical compound relationship for HFE2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iron 85 177 19287179 (5), 18952085 (4), 15315977 (4), 17098454 (4) (see all 68)



    Find genes that share compounds with HFE2           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HFE2 gene (4 alternative transcripts): 
    NM_145277.4  NM_202004.3  NM_213652.3  NM_213653.3  

    Unigene Cluster for HFE2:

    Hemochromatosis type 2 (juvenile)
    Hs.632436  [show with all ESTs]
    Unigene Representative Sequence: NM_213653
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000357836(uc001enk.2 uc001enj.2 uc001enl.2) ENST00000421822
    ENST00000336751(uc001eni.2) ENST00000497365 ENST00000475797
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    Additional mRNA sequence: 

    AK092682.1 AK092692.1 AK096905.1 AK124273.1 AK223575.1 AK290831.1 AK292742.1 AK315852.1 
    AY372521.1 BC017926.1 BC085604.1 

    5 DOTS entries:

    DT.100776349  DT.101980521  DT.100020133  DT.113936  DT.121396341 

    Selected AceView cDNA sequences (see all 64):

    AV662118 AI243087 AA181502 AA993691 AV646291 BK001577 AA181509 AK124273 
    CR616174 AX747673 AI701328 AY372521 BK001576 AK092692 AA181515 BK001578 
    AK096905 NM_145277 NM_202004 NM_213653 AI190465 BK001575 BC017926 F34953 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for HFE2    About this scheme

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


    ECgene alternative splicing isoforms for HFE2

    (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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    HFE2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCATTAGCC
    HFE2 Expression
    About this image


    HFE2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot
     
     Heart (Cardiovascular System)
     
     Liver (Hepatobiliary System)
    HFE2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HFE2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.632436

    UniProtKB/Swiss-Prot: RGMC_HUMAN, Q6ZVN8
    Tissue specificity: Adult and fetal liver, heart, and skeletal muscle

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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 animals.

    Orthologs for HFE2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hfe21 , 5 hemochromatosis type 2 (juvenile) (human homolog)1, 5 84.09(n)1
    88.01(a)1
      3 (41.91 cM)5
    695851  NM_027126.41  NP_081402.31 
     965251855 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    57(a)
    55(a)
    1 ↔ many
    1 ↔ many
    GL343981.1(57092-70918)
    GL343560.1(298304-312117)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia hfe21 hemochromatosis type 2 (juvenile) 62.1(n)
    60.27(a)
      100493945  XM_002938475.2  XP_002938521.2 
    zebrafish
    (Danio rerio)
    Actinopterygii hfe21 hemochromatosis type 2 55.49(n)
    50.74(a)
      321932  XM_005158292.1  XP_005158349.1 
    worm
    (Caenorhabditis elegans)
    Secernentea drag-16
    Protein DRAG-1 (drag-1) mRNA, complete cds
    22(a)
    1 → many
    I(1680450-1685063) WBGene00022154


    ENSEMBL Gene Tree for HFE2 (if available)
    TreeFam Gene Tree for HFE2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HFE2 gene
    RGMA2  RGMB2  
    2 SIMAP similar genes for HFE2 using alignment to 3 protein entries:     RGMC_HUMAN (see all proteins):
    RGMB    RGMA

    Find genes that share paralogs with HFE2           About GenesLikeMe



    (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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    Selected SNPs for HFE2 (see all 167)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289405861,2,,4
    CHemochromatosis 2A (HFE2A)4 pathogenic1152493051(-) GCCTCC/TGTCGA 5 R C mis1 int1 ut51 ese30--------
    VAR_0196254
    Hemochromatosis 2A (HFE2A)4--see VAR_0196252 S R mis40--------
    VAR_0196284
    Hemochromatosis 2A (HFE2A)4--see VAR_0196282 R W mis40--------
    VAR_0196224
    Hemochromatosis 2A (HFE2A)4--see VAR_0196222 F S mis40--------
    VAR_0196184
    Hemochromatosis 2A (HFE2A)4--see VAR_0196182 S P mis40--------
    VAR_0196274
    Hemochromatosis 2A (HFE2A)4--see VAR_0196272 G V mis40--------
    VAR_0199274
    Hemochromatosis 2A (HFE2A)4--see VAR_0199272 C W mis40--------
    VAR_0196234
    Hemochromatosis 2A (HFE2A)4--see VAR_0196232 D E mis40--------
    VAR_0196194
    Hemochromatosis 2A (HFE2A)4--see VAR_0196192 G R mis40--------
    VAR_0196264
    Hemochromatosis 2A (HFE2A)4--see VAR_0196262 I N mis40--------

    HapMap Linkage Disequilibrium report for HFE2 (145413095 - 145417545 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for HFE2 (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv15n16CNV Deletion17901297
    dgv46e201CNV Deletion23290073
    esv2422428CNV Duplication17116639
    nsv509457CNV Insertion20534489
    nsv2699CNV Insertion18451855
    nsv831359CNV Loss17160897
    nsv428212CNV Gain18775914
    dgv346n71CNV Gain21882294
    dgv347n71CNV Gain21882294
    nsv831370CNV Gain17160897

    Human Gene Mutation Database (HGMD): HFE2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HFE2
    DNA2.0 Custom Variant and Variant Library Synthesis for HFE2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608374   
    OMIM disorders: 602390  
    UniProtKB/Swiss-Prot: RGMC_HUMAN, Q6ZVN8
  • Hemochromatosis 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 15 diseases for HFE2:    
    About MalaCards
    hemochromatosis type 2    cardiogenic shock    hjv -related juvenile hemochromatosis    hemoglobinopathy
    hemochromatosis, type 2a    aceruloplasminemia    iron-refractory iron deficiency anemia    juvenile hereditary hemochromatosis
    periventricular nodular heterotopia 6    deficiency anemia    hemochromatosis    iron deficiency anemia
    periventricular nodular heterotopia    hypogonadism    porphyria cutanea tarda

    3 diseases from the University of Copenhagen DISEASES database for HFE2:
    Hemochromatosis     Anemia     Aceruloplasminemia

    Find genes that share disorders with HFE2           About GenesLikeMe

    Selected Novoseek inferred disease relationships for HFE2 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hemochromatosis, juvenile 98.5 53 15967692 (3), 17264300 (2), 15811010 (2), 14982867 (2) (see all 31)
    iron overload 92.9 50 17098454 (4), 15610558 (3), 16075058 (2), 15893030 (1) (see all 28)
    hemochromatosis 92.5 39 16103673 (2), 16604073 (2), 15610558 (2), 16234038 (1) (see all 25)
    hereditary hemochromatosis 89.3 10 17540536 (1), 16409153 (1), 16265043 (1), 18293685 (1) (see all 8)
    iron disorder 84.7 2 15138164 (1)
    anemia 54.5 5 16838333 (2), 17607352 (1), 18976966 (1), 15875150 (1)
    cardiomyopathy 44.4 1 15611318 (1)
    genetic disorder 34.3 2 20408179 (1), 18287331 (1)
    chronic disease 28.2 2 17607352 (1), 15875150 (1)
    inflammation 18.1 5 15315977 (2), 19287179 (1), 17255318 (1)

    GeneTests: HFE2
    GeneReviews: HFE2
    Genetic Association Database (GAD): HFE2
    Human Genome Epidemiology (HuGE) Navigator: HFE2 (12 documents)

    Export disorders for HFE2 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 HFE2 gene, integrated from 10 sources (see all 166):
    (articles sorted by number of sources associating them with HFE2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. (PubMed id 14647275)1, 2, 3, 9 Papanikolaou G....Goldberg Y.P. (Nat. Genet. 2004)
    2. Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis. (PubMed id 15461631)1, 2, 9 Lee P.L.... Beutler E. (Br. J. Haematol. 2004)
    3. Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. (PubMed id 14982867)1, 2, 9 Lee P.L.... Barton J.C. (Blood 2004)
    4. Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene. (PubMed id 19214511)1, 4, 9 AltA"s A....Baiget M. (Ann. Hematol. 2009)
    5. The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype. (PubMed id 15254010)1, 4, 9 Le Gac G....FAcrec C. (Hum. Mol. Genet. 2004)
    6. Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. (PubMed id 17847004)1, 4, 9 Milet J....Mosser J. (Am. J. Hum. Genet. 2007)
    7. Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population. (PubMed id 15610558)1, 4, 9 Barton J.C....Acton R.T. (BMC Med. Genet. 2004)
    8. Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes. (PubMed id 18762941)1, 4, 9 Mendes A.I....Faustino P. (Ann. Hematol. 2009)
    9. Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. (PubMed id 14982873)1, 2, 9 Lanzara C.... Camaschella C. (Blood 2004)
    10. Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia. (PubMed id 19357398)1, 2, 9 Silvestri L....Grandchamp B. (Blood 2009)

    (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: 148738 HGNC: 4887 AceView: HFE2 Ensembl:ENSG00000168509 euGenes: HUgn148738
    ECgene: HFE2 H-InvDB: HFE2

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for HFE2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HFE2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HFE2 gene:
    Search GeneIP for patents involving HFE2

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



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