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HEPH Gene

protein-coding   GIFtS: 60
GCID: GC0XP065299

Hephaestin

  See HEPH-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
hephaestin1 2
CPL2
EC 1.-.-.-3
KIAA06983
EC 1.16.3.18

External Ids:    HGNC: 48661   Entrez Gene: 98432   Ensembl: ENSG000000894727   OMIM: 3001675   UniProtKB: Q9BQS73   

Export aliases for HEPH gene to outside databases

Previous GC identifers: GC0XP061603 GC0XP062847 GC0XP063615 GC0XP064249 GC0XP065165 GC0XP059211


(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 HEPH Gene:
This gene encodes a member of the multicopper oxidase protein family. The encoded protein is involved in the
transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system, and may be
involved in copper transport and homeostasis. In mouse, defects in this gene can lead to severe microcytic
anemia. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Aug 2013)

GeneCards Summary for HEPH Gene:
HEPH (hephaestin) is a protein-coding gene. Diseases associated with HEPH include atransferrinemia, and congenital disorder of glycosylation type i. GO annotations related to this gene include oxidoreductase activity and copper ion binding. An important paralog of this gene is HEPHL1.

UniProtKB/Swiss-Prot: HEPH_HUMAN, Q9BQS7
Function: May function as a ferroxidase for ferrous (II) to ferric ion (III) conversion and may be involved in
copper transport and homeostasis. Implicated in iron homeostasis and may mediate iron efflux associated to
ferroportin 1




(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_000023.10  NT_011651.18  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HEPH gene promoter:
         TBP   AREB6   Bach2   TFIID   Hand1   Lmo2   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): HEPH promoter sequence
   Search Chromatin IP Primers for HEPH

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


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

Entrez Gene cytogenetic band: Xq11-q12   Ensembl cytogenetic band:  Xq12   HGNC cytogenetic band: Xq11-q12

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

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP065299:  view genomic region     (about GC identifiers)

Start:
65,382,391 bp from pter      End:
65,488,709 bp from pter
Size:
106,319 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HEPH_HUMAN, Q9BQS7 (See protein sequence)
Recommended Name: Hephaestin precursor  
Size: 1158 amino acids; 130449 Da
Cofactor: Binds 6 copper ions per monomer (By similarity)
Sequence caution: Sequence=AAQ89349.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=EAX05385.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=EAX05388.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: B1AJX8 D3DVT7 E9PHN8 O75180 Q6UW45 Q9C058
Alternative splicing: 4 isoforms:  Q9BQS7-1   Q9BQS7-2   Q9BQS7-3   Q9BQS7-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HEPH: NX_Q9BQS7

Explore proteomics data for HEPH at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn164, Asn236, Asn588, Asn714, Asn758, Asn829, Asn873, Asn931, Ser1070, Thr1073,
                                 Thr1076, Thr1079
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for HEPH (Q9BQS7)
     HCHVTDH  YYSAVDP  HLGILGP  IYHSHVDAP 


    See HEPH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001124332.1  NP_001269070.1  NP_055614.1  NP_620074.3  

    ENSEMBL proteins: 
     ENSP00000430620   ENSP00000337418   ENSP00000396907   ENSP00000392319   ENSP00000411687  
     ENSP00000413211   ENSP00000343939   ENSP00000398078   ENSP00000363859  
    Reactome Protein details: Q9BQS7

    HEPH Human Recombinant Protein Products:

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    Novus Biologicals HEPH Protein
    Novus Biologicals HEPH Lysate
    Browse Sino Biological Recombinant Proteins
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    Cloud-Clone Corp. Proteins for HEPH

     
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    LSBio Antibodies in human, mouse, rat for HEPH

    HEPH Assay Products:

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    Search eBioscience for ELISAs for HEPH 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR011707 Cu-oxidase_3
     IPR011706 Cu-oxidase_2
     IPR008972 Cupredoxin
     IPR002355 Cu_oxidase_Cu_BS
     IPR027154 HEPH

    Graphical View of Domain Structure for InterPro Entry Q9BQS7

    ProtoNet protein and cluster: Q9BQS7

    1 Blocks protein domain: IPB011706 Multicopper oxidase

    UniProtKB/Swiss-Prot: HEPH_HUMAN, Q9BQS7
    Similarity: Belongs to the multicopper oxidase family
    Similarity: Contains 6 plastocyanin-like domains


    Find genes that share domains with HEPH           About GenesLikeMe


    (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, 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: HEPH_HUMAN, Q9BQS7
    Function: May function as a ferroxidase for ferrous (II) to ferric ion (III) conversion and may be involved in
    copper transport and homeostasis. Implicated in iron homeostasis and may mediate iron efflux associated to
    ferroportin 1

         Enzyme Numbers (IUBMB): EC 1.16.3.12 EC 1.-.-.-1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005507copper ion binding IEA--
    GO:0016491oxidoreductase activity IEA--
         
    Find genes that share ontologies with HEPH           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for HEPH:
     Decreased viability of wild-ty  Increased G1 DNA content 

         12 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Heph):
     cardiovascular system  digestive/alimentary  embryogenesis  hematopoietic system  homeostasis/metabolism 
     immune system  integument  liver/biliary system  nervous system  no phenotypic analysis 
     pigmentation  vision/eye 

    Find genes that share phenotypes with HEPH           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Hephtm1.2Jdun for HEPH

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HEPH
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HEPH

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HEPH
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HEPH

    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate HEPH:
    hsa-miR-708 hsa-miR-28-5p hsa-miR-520g hsa-miR-3139
    SwitchGear 3'UTR luciferase reporter plasmidHEPH 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for HEPH
    Predesigned siRNA for gene silencing in human, mouse, rat HEPH

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 3): HEPH (NM_014799)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HEPH
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEPH


    (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
    HEPH_HUMAN, Q9BQS7: Membrane; Single-pass type I membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol1
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016021integral component of membrane IEA--
    GO:0048471perinuclear region of cytoplasm IEA--

    Find genes that share ontologies with HEPH           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 HEPH About    
    See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Transmembrane transport of small molecules0.47
    2Insulin receptor recycling
    Iron uptake and transport0.70
    3Mineral absorption
    Mineral absorption
    4Metal ion SLC transporters
    Metal ion SLC transporters


    Find genes that share SuperPaths with HEPH           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for HEPH
        Iron uptake and transport
    Metal ion SLC transporters


    1 Kegg Pathway  (Kegg details for HEPH):
        Mineral absorption

        Pathway & Disease-focused RT2 Profiler PCR Array including HEPH: 
              Neurotoxicity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for HEPH

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006825copper ion transport IEA--
    GO:0006826iron ion transport ----
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0055085transmembrane transport TAS--
    GO:0055114oxidation-reduction process ----

    Find genes that share ontologies with HEPH           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 HEPH

    2 HMDB Compounds for HEPH    About this table
    CompoundSynonyms CAS #PubMed Ids
    CopperCu (see all 2)7440-50-8--
    IronArmco iron (see all 19)7439-89-6--

    2 Novoseek inferred chemical compound relationships for HEPH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iron 76.4 114 12949720 (5), 15365174 (4), 15825077 (4), 10697391 (3) (see all 43)
    copper 53.7 16 15087449 (3), 16274220 (2), 10697391 (2), 11842003 (2) (see all 9)



    Find genes that share compounds with HEPH           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 HEPH gene (4 alternative transcripts): 
    NM_001130860.3  NM_001282141.1  NM_014799.3  NM_138737.4  

    Unigene Cluster for HEPH:

    Hephaestin
    Hs.31720  [show with all ESTs]
    Unigene Representative Sequence: NM_138737
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000519389(uc011moz.2) ENST00000336279(uc004dwo.3) ENST00000458621
    ENST00000429547 ENST00000441993(uc004dwn.3 uc010nkr.3) ENST00000419594(uc010nks.3)
    ENST00000343002(uc011mpa.2) ENST00000425114 ENST00000471121 ENST00000374727

    miRNA
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    Block miRNA regulation of human, mouse, rat HEPH using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate HEPH:
    hsa-miR-708 hsa-miR-28-5p hsa-miR-520g hsa-miR-3139
    SwitchGear 3'UTR luciferase reporter plasmidHEPH 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat HEPH
    Clone
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for HEPH
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HEPH
      QuantiTect SYBR Green Assays in human, mouse, rat HEPH
      QuantiFast Probe-based Assays in human, mouse, rat HEPH

    Additional mRNA sequence: 

    AB014598.2 AF075034.1 AF148860.1 AK022472.1 AK294278.1 AK295456.1 AK307761.1 AK311043.1 
    AK316231.1 AY358990.1 BC011561.1 

    10 DOTS entries:

    DT.101961829  DT.314035  DT.95374866  DT.100748834  DT.102828452  DT.102828454  DT.100001026  DT.102828451 
    DT.102828453  DT.92011142 

    Selected AceView cDNA sequences (see all 128):

    AW613317 AU122703 BM971345 AI635409 BF001244 AK022472 NM_014799 BM786341 
    BU739057 AA320483 AF148860 BQ021181 AJ296162 AA582130 AW000869 BM792201 
    CA388602 BC011561 AI095464 AI784619 H20113 W81624 AW168800 W81365 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for HEPH    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
    SP1:        -     -     -                                                                                                                           
    SP2:                    -                                                                                                                           
    SP3:                                                                                                                                                
    SP4:                    -     -                                                                                                                     


    ECgene alternative splicing isoforms for HEPH

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


    HEPH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Mesenchymal Condensate Cells Zeugopod
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Mesenchymal Condensate Cells Zeugopod
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Epiblast (Early Embryonic Tissues)    fully expand to see all 2 entries
             Epiblast Stem Cell line 5
     
     Neural Crest (Gastrulation Derivatives)
             PureStem MEL2, NCr-fac Progenitor
    HEPH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HEPH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.31720

    UniProtKB/Swiss-Prot: HEPH_HUMAN, Q9BQS7
    Tissue specificity: Detected in breast, colon, bone trabecular cells and fibroblasts

        Pathway & Disease-focused RT2 Profiler PCR Array including HEPH: 
              Neurotoxicity in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEPH

    (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 HEPH gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Heph1 , 5 hephaestin1, 5 85.35(n)1
    85.73(a)1
      X (42.69 cM)5
    152031  NM_001159628.11  NP_001153100.11 
     964553595 
    chicken
    (Gallus gallus)
    Aves HEPH1 hephaestin 66.03(n)
    64.43(a)
      422168  XM_420165.4  XP_420165.4 
    lizard
    (Anolis carolinensis)
    Reptilia HEPH6
    hephaestin
    59(a)
    1 ↔ 1
    GL343465.1(664608-691352)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HEPH gene
    HEPHL12  CP2  
    7 SIMAP similar genes for HEPH using alignment to 6 protein entries:     HEPH_HUMAN (see all proteins):
    HEPHL1    F8c    CP    F8C    F8    factor V
    F5

    Find genes that share paralogs with HEPH           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 HEPH (see all 1679)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1883691421,2
    --65388603(+) GTGGTC/GGTGGG 1 -- us2k10--------
    rs1466892021,2
    C--65388717(+) TCATCA/GGAGGA 1 -- us2k10--------
    rs1918746561,2
    --65388943(+) ATTATA/TCCTGT 1 -- us2k10--------
    rs1844377521,2
    --65389077(+) CCTAGA/GCCATG 1 -- us2k10--------
    rs1893163131,2
    --65389087(+) GTTGAC/TTCTAA 1 -- us2k10--------
    rs1822977351,2
    --65389205(+) AAAGAC/TGTTCT 1 -- us2k10--------
    rs1870806791,2
    --65389206(+) AAGATA/GTTCTA 1 -- us2k10--------
    rs1117990421,2
    C,F--65389227(+) TTAACC/ACATGA 1 -- us2k11Minor allele frequency- A:0.00CSA 1
    rs1895245011,2
    --65389252(+) TATTCC/TGGTCT 1 -- us2k10--------
    rs1814683301,2
    --65389373(+) CTTCAC/TCCTTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HEPH (65382391 - 65488709 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for HEPH:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1584074OTHER Inversion17803354

    Locus Specific Mutation Databases (LSDB): HEPH

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HEPH
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    (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: 300167    OMIM disorders: --

    4 diseases for HEPH:    
    About MalaCards
    atransferrinemia    congenital disorder of glycosylation type i    aceruloplasminemia    age related macular degeneration

    5 diseases from the University of Copenhagen DISEASES database for HEPH:
    Aceruloplasminemia     Hemochromatosis     Atransferrinemia     Anemia
    Age related macular degeneration

    Find genes that share disorders with HEPH           About GenesLikeMe

    Selected Novoseek inferred disease relationships for HEPH gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hereditary hemochromatosis 81.2 3 11259339 (1), 16137899 (1), 11110669 (1)
    neovascularization subretinal 78.2 1 17065470 (1)
    iron overload 76 7 14618243 (1), 18326691 (1), 11897618 (1), 17065470 (1) (see all 5)
    iron deficiency 72.4 6 12949720 (3), 16137899 (1), 15054143 (1), 18830567 (1)
    hemochromatosis 65.1 7 12949720 (3), 10791995 (1), 14633776 (1)
    retinal degeneration 59 2 17065470 (1), 15365174 (1)
    iron deficiency anemia 59 1 11897618 (1)
    anemia 33.8 2 11932491 (1), 15778082 (1)
    colon carcinoma 21.6 1 15087449 (1)
    colorectal cancer 0 2 16641131 (2)

    Genetic Association Database (GAD): HEPH
    Human Genome Epidemiology (HuGE) Navigator: HEPH (1 document)

    Export disorders for HEPH 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 HEPH gene, integrated from 10 sources (see all 80):
    (articles sorted by number of sources associating them with HEPH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9734811)1, 2, 3 Ishikawa K.... Ohara O. (DNA Res. 1998)
    2. Analysis of the human hephaestin gene and protein: comparative modelling of the N-terminus ecto-domain based upon ceruloplasmin. (PubMed id 11932491)1, 2, 9 Syed B.A.... Srai S.K.S. (Protein Eng. 2002)
    3. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PubMed id 20587610)1, 4 Ucisik-Akkaya E....Dorak M.T. (Mol. Hum. Reprod. 2010)
    4. Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer. (PubMed id 20932654)1, 4 Kerns S.L....Rosenstein B.S. (Int. J. Radiat. Oncol. Biol. Phys. 2010)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    7. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (DNA Res. 2002)
    8. Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse. (PubMed id 9988272)1, 3 Vulpe C.D....Anderson G.J. (Nat. Genet. 1999)
    9. Recombinant expression and functional characterization of human hephaestin: a multicopper oxidase with ferroxidase activity. (PubMed id 16274220)1, 9 Griffiths T.A....MacGillivray R.T. (Biochemistry 2005)
    10. Colocalization of ferroportin-1 with hephaestin on the basolateral membrane of human intestinal absorptive cells. (PubMed id 17486601)1, 9 Han O. and Kim E.Y. (J. Cell. Biochem. 2007)

    (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)
    About This Section

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    Entrez Gene: 9843 HGNC: 4866 AceView: HEPH Ensembl:ENSG00000089472 euGenes: HUgn9843
    ECgene: HEPH Kegg: 9843 H-InvDB: HEPH

    (According to HUGE)
    About This Section

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    HUGE: KIAA0698

    (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 HEPH Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Hephaestin

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

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    Patent Information for HEPH gene:
    Search GeneIP for patents involving HEPH

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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