Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

HEPH Gene

protein-coding   GIFtS: 60
GCID: GC0XP065299

Hephaestin

Alzheimer's & Parkinson's 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)
About This Section

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

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 lymphangiectasis, and atransferrinemia, and among its related super-pathways are Transmembrane transport of small molecules and Transferrin endocytosis and recycling. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_011669.17  NC_018934.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for HEPH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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)
Subcellular location: Membrane; Single-pass type I membrane protein (Potential)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BQS7

  • 4 DME Specific Peptides for HEPH (Q9BQS7)
     HCHVTDH  YYSAVDP  HLGILGP  IYHSHVDAP 

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

    HEPH Protein Expression
    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
    Human Recombinant Protein Products for HEPH: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for HEPH
    OriGene Protein Over-expression Lysate for HEPH
    OriGene MassSpec for HEPH 
    OriGene Custom Protein Services for HEPH
    GenScript Custom Purified and Recombinant Proteins Services for HEPH
    Novus Biologicals HEPH Protein
    Novus Biologicals HEPH Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HEPH 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    HEPH for ontologies           About GeneDecksing



    HEPH Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for HEPH
    GenScript Custom Superior Antibodies Services for HEPH
    Novus Biologicals HEPH Antibodies
    Abcam antibodies for HEPH
    Cloud-Clone Corp. Antibodies for HEPH 
    Search ThermoFisher Antibodies for HEPH
    LSBio Antibodies in human, mouse, rat for HEPH 

    Assay Products for HEPH: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for HEPH
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HEPH
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HEPH 
    Cloud-Clone Corp. CLIAs for HEPH


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


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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005507copper ion binding IEA--
    GO:0016491oxidoreductase activity IEA--
         
    HEPH for ontologies           About GeneDecksing


    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 

    HEPH for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HEPH 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HEPH
    4 QIAGEN miScript miRNA 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
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HEPH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HEPH

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HEPH
    Sirion Biotech Customized adenovirus for overexpression of HEPH

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for HEPH (see all 23)
    OriGene ORF clones in mouse, rat for HEPH
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    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
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HEPH
    Sirion Biotech Customized lentivirus for stable overexpression of HEPH 
                         Customized lentivirus expression plasmids for stable overexpression of HEPH 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for HEPH
    Search LifeMap BioReagents cell lines for HEPH
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEPH


    (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 HEPH About                                                                                                See pathways by source

    SuperPathContained pathways About
    1SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Transmembrane transport of small molecules0.50
    2Insulin receptor recycling
    Iron uptake and transport0.69
    3Zinc transporters
    Metal ion SLC transporters0.68
    4Mineral absorption
    Mineral absorption

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5        Reactome Pathways for HEPH
        SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Iron uptake and transport
    Metal ion SLC transporters


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


    HEPH for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HEPH

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

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

    HEPH 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

    HEPH for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about HEPH

    (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 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
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HEPH
    4 QIAGEN miScript miRNA 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
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HEPH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HEPH
    Clone
    Products:
         
    OriGene clones in human, mouse for HEPH (see all 23)
    OriGene ORF clones in mouse, rat for HEPH
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): HEPH (NM_014799)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HEPH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HEPH
    Sirion Biotech Customized lentivirus for stable overexpression of HEPH 
                         Customized lentivirus expression plasmids for stable overexpression of HEPH 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for HEPH
    OriGene qSTAR qPCR primer pairs in human, mouse for HEPH
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HEPH
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HEPH
      QIAGEN 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 

    24/128 AceView cDNA sequences (see all 128):

    CB158766 AW611927 BU739057 H20113 W81365 AW168800 BM792201 AF075034 
    W81624 AI784619 AA515535 BM784389 AW000869 AA587621 AA515536 AF148860 
    BX110441 AI203260 AW613317 AA320483 AI635409 BM682481 AK022472 AI095464 

    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™, 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

    HEPH expression in normal human tissues (normalized intensities)      HEPH embryonic expression: see
    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 
     5/17 selected tissues (see all 17) fully expand
     
     Uncategorized (Uncategorized)    fully expand to see all 4 entries
             PureStem Progenitor ES-263
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Mesenchymal Condensate Cells Zeugopod
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 2 entries
             Schwann Precursor Cells Peripheral Nerve Domain
             Human Schwann Cells (HSC)   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Mesenchymal Condensate Cells Zeugopod
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Epiblast (Early Embryonic Tissues)    fully expand to see all 2 entries
             Epiblast Stem Cell line 5

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

    SOURCE GeneReport for Unigene cluster: Hs.31720

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

        SABiosciences Expression via Pathway-Focused PCR Array including HEPH: 
              Neurotoxicity in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for HEPH
    OriGene qSTAR qPCR primer pairs in human, mouse for HEPH
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HEPH
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HEPH
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HEPH
    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for HEPH gene from 3/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Heph1 , 5 hephaestin1, 5 85.39(n)1
    85.83(a)1
      X (42.69 cM)5
    152031  NM_010417.21  NP_034547.21 
     964553595 
    chicken
    (Gallus gallus)
    Aves HEPH1 hephaestin 66.03(n)
    64.49(a)
      422168  XM_420165.3  XP_420165.3 
    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)
    About This Section
    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

    HEPH 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

    10/1679 SNPs in HEPH are shown (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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing HEPH
    DNA2.0 Custom Variant and Variant Library Synthesis for HEPH

    (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: 300167    OMIM disorders: --

    20/23 diseases for HEPH (see all 23):    About MalaCards
    lymphangiectasis    atransferrinemia    congenital disorder of glycosylation type i    aceruloplasminemia
    microcytic anemia    iron deficiency anemia    hemochromatosis    oral cavity cancer
    anemia    congenital disorder of glycosylation    age related macular degeneration    retinal degeneration
    macular degeneration    duodenitis    celiac disease    retinitis
    nasopharyngitis    parkinson's disease    mental retardation    colorectal cancer

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

    HEPH for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/11 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)
    About This Section

    PubMed articles for HEPH gene, integrated from 9 sources (see all 79):
    (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. (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. (2002)
    3. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PubMed id 20587610)1, 4 Ucisik-Akkaya E....Tevfik Dorak M. (2010)
    4. Genome-wide association study to identify single nucl eotide polymorphisms (SNPs) associated with the development of erectile dysfunc tion in African-American men after radiotherapy for prostate cancer. (PubMed id 20932654)1, 4 Kerns S.L....Rosenstein B.S. (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. (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. (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. (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. (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. (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. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 9843 HGNC: 4866 AceView: HEPH Ensembl:ENSG00000089472 euGenes: HUgn9843
    ECgene: HEPH Kegg: 9843 H-InvDB: HEPH

    (According to HUGE)
    About This Section
    HUGE: KIAA0698

    (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 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
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for HEPH  
     OriGene qPCR primer pairs and template standards for HEPH   OriGene Protein Over-expression Lysate for HEPH  
     OriGene MassSpec something-or-other for HEPH   OriGene clones in human, mouse for HEPH  
     OriGene qSTAR qPCR primer pairs in human, mouse for HEPH   OriGene Purified Protein for HEPH  
     OriGene ORF clones in mouse, rat for HEPH   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for HEPH   OriGene Custom Protein Services for HEPH  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HEPH
     QIAGEN SeqTarget long-range PCR primers for resequencing HEPH
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HEPH
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HEPH
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HEPH
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HEPH
     GenScript Custom Purified and Recombinant Proteins Services for HEPH GenScript cDNA clones with any tag delivered in your preferred vector for HEPH
     GenScript Custom Assay Services for HEPH GenScript Custom Superior Antibodies Services for HEPH
     GenScript Custom overexpressing Cell Line Services for HEPH CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in HEPH promoter
     Search Chromatin IP Primers for HEPH
     RT2 qPCR Primer Assay in human, mouse, rat HEPH
     GNC Network for HEPH
     SABiosciences PCR Arrays including human, mouse, rat HEPH
     Search Tocris compounds for HEPH
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     HEPH antibodies
     HEPH proteins
     HEPH lysates
     Antibodies for HEPH
     See all of Abcam's Antibodies, Kits and Proteins for HEPH
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for HEPH
     Antibodies for HEPH
     ELISAs for HEPH
     CLIAs for HEPH
     Search LifeMap BioReagents cell lines for HEPH
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEPH
     SwitchGear 3'UTR luciferase reporter plasmids for HEPH
     SwitchGear Promoter luciferase reporter plasmids for HEPH
     Search ThermoFisher Antibodies for HEPH
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HEPH
     inGenious Targeting Laboratory - Custom generated mouse model solutions for HEPH
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HEPH
    Customized:
     lentivirus for stable overexpression of HEPH
     lentivirus expression plasmids for stable overexpression of HEPH
     adenovirus for overexpression of HEPH
     LSBio Antibodies in human, mouse, rat for HEPH
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      HEPH gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4