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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HFE2 Gene

protein-coding   GIFtS: 62
GCID: GC01P145413

Hemochromatosis Type 2 (Juvenile)

  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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 cardiogenic shock, and juvenile hereditary hemochromatosis, and among its related super-pathways are Axon guidance and DCC mediated attractive signaling. GO annotations related to this gene include protein binding and 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_167185.1  NC_018912.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for HFE2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cell membrane; Lipid-anchor, GPI-anchor (By similarity)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6ZVN8

  • HFE2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HFE2 Protein Expression
    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
    Human Recombinant Protein Products for HFE2: 
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    Novus Biologicals HFE2 Lysates
    Sino Biological Recombinant Protein for HFE2
    Sino Biological Cell Lysate for HFE2 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    HFE2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    HFE2 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19357398
    GO:0015026coreceptor activity IEA--
         
    HFE2 for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Hfe2):
     cardiovascular system  hematopoietic system  homeostasis/metabolism  immune system  integument 
     liver/biliary system  mortality/aging  renal/urinary system  reproductive system 

    HFE2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Hfe2tm1Nca for HFE2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HFE2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HFE2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HFE2 
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate HFE2:
    hsa-miR-1288
    SwitchGear 3'UTR luciferase reporter plasmidHFE2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HFE2


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HFE2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Axon guidance
    Axon guidance0.69
    Developmental Biology0.69
    2Netrin-1 signaling
    Netrin-1 signaling0.33
    3Signaling by BMP
    BMP receptor signaling0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for HFE2
        BMP receptor signaling


    3        Reactome Pathways for HFE2
        Developmental Biology
    Netrin-1 signaling
    Axon guidance



    HFE2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HFE2

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

    5/28 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 (GO ID links to tree view):    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

    HFE2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HFE2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about HFE2 / RGMC

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate HFE2:
    hsa-miR-1288
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    Inhib. RNA
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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 

    24/64 AceView cDNA sequences (see all 64):

    AK096905 AK092692 AK124273 CR616174 BK001576 AY372521 BK001575 AA181502 
    AI243087 AV662118 AV646291 AI190465 BC017926 NM_213653 BK001578 AA181515 
    AA181509 BK001577 NM_202004 NM_145277 AI701328 AA993691 AX747673 AI084581 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HFE2 expression in normal human tissues (normalized intensities)      HFE2 embryonic expression: see
    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 
     5/6 selected tissues (see all 6) fully expand
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot
     
     Bone (Muscoskeletal System)
             Human Mesenchymal Stem Cell-bone marrow (HMSC-Bone Marrow)   
     
     Blood (Muscoskeletal System)
             Human Mesenchymal Stem Cell-bone marrow (HMSC-Bone Marrow)   
     
     Mesenchymal Stem Cells
             Human Mesenchymal Stem Cell-bone marrow (HMSC-Bone Marrow)   
     
     Heart (Cardiovascular System)

    See HFE2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HFE2

    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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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HFE2

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for HFE2 gene from 4/11 species (see all 11)    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 84.62(n)1
    88.94(a)1
      3 (41.91 cM)5
    695851  NM_027126.41  NP_081402.31 
     965251855 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    60(a)
    58(a)
    1 ↔ many
    1 ↔ many
    GL343981.1(57092-70918)
    GL343560.1(298304-312117)
    zebrafish
    (Danio rerio)
    Actinopterygii hfe21 hemochromatosis type 2 55.49(n)
    51.96(a)
      321932  NM_001045281.1  NP_001038746.1 
    worm
    (Caenorhabditis elegans)
    Secernentea drag-16
    Protein DRAG-1
    19(a)
    1 → many
    I(1680450-1685063)


    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)
    About This Section
    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

    HFE2 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/167 SNPs in HFE2 are shown (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
    ----------
    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--------
    VAR_0196294
    Hemochromatosis 2A (HFE2A)4--see VAR_0196292 G V mis40--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/16 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
    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section
    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

  • 20/23 diseases for HFE2 (see all 23):    About MalaCards
    cardiogenic shock    juvenile hereditary hemochromatosis    hjv -related juvenile hemochromatosis    hemochromatosis, type 2a
    hemochromatosis type 2    hemochromatosis    aceruloplasminemia    atransferrinemia
    hfe-associated hereditary hemochromatosis    porphyria cutanea tarda    hypogonadism    hemoglobinopathy
    iron deficiency anemia    porphyria    fatty liver disease    beta thalassemia
    thalassemia    hepatitis    liver disease    anemia

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

    HFE2 for disorders           About GeneDecksing

    10/12 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)
    About This Section

    PubMed articles for HFE2 gene, integrated from 9 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. (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. (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. (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. (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....Ferec C. (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. (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. (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. (2008)
    9. Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. (PubMed id 14982873)1, 2, 9 Lanzara C.... Camaschella C. (2004)
    10. Molecular mechanisms of the defective hepcidin inhibi tion in TMPRSS6 mutations associated with iron-refractory iron deficiency anemi a. (PubMed id 19357398)1, 2, 9 Silvestri L....Grandchamp B. (2009)

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

      Query String
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    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)
    About This Section
    Entrez Gene: 148738 HGNC: 4887 AceView: HFE2 Ensembl:ENSG00000168509 euGenes: HUgn148738
    ECgene: HFE2 H-InvDB: HFE2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HFE2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HFE2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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