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

HEPH Gene

protein-coding   GIFtS: 57
GCID: GC0XP065299

hephaestin
 Explore 23 diseases affiliated with
HEPH via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for HEPH    

Aliases
for HEPH gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Hephaestin1
CPL1 2
KIAA06981 3
EC 1.-.-.-3
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


Summaries
for HEPH gene

(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:
The protein encoded by this gene is similar to an iron transport protein found in mouse. The mouse protein is similar
to ceruloplasmin, a serum multi-copper ferroxidase, and is thought to be a membrane-bound protein responsible for
transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system. In mouse, defects
in this gene can lead to severe microcytic anemia. Three transcript variants encoding different isoforms have been
described for this gene. (provided by RefSeq, Aug 2008)

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




Genomic Views
for HEPH 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011669.17  
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

Proteins
for HEPH gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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 O75180 Q6UW45 Q9C058
Alternative splicing: 2 isoforms:  Q9BQS7-1   Q9BQS7-2   

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BQS7

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

    HEPH Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001124332.1  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: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Proteins (see all 2): HEPH
    OriGene Protein Over-expression Lysate: 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 ProSpec Recombinant Proteins
    Uscn 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 ----


    HEPH for ontologies           About GeneDecksing



    HEPH Antibody Products: 
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    Novus Biologicals HEPH Antibodies
    Search for Antibodies for HEPH at Abcam  
    Uscn Antibodies for HEPH
    Search ThermoFisher Antibodies for HEPH

    Assay Products for HEPH: 
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    Uscn ELISAs and CLIAs for HEPH

    Protein Domains /
    Families
    for HEPH gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HEPH for domains           About GeneDecksing

    5 InterPro domains/families:
     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 family: IPB011706 Multicopper oxidase

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


    Function
    for HEPH gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

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

    miRNA
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    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 plasmid: HEPH 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HEPH (see all 7)
    OriGene shRNA RFP: HEPH
    OriGene siRNA: HEPH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HEPH

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for HEPH

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HEPH (see all 9)
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    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
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HEPH 

    Cell Line
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    Search LifeMap BioReagents cell lines for HEPH

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEPH

    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


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

    Animal Models:
         9 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Heph):
     cardiovascular system  digestive/alimentary  embryogenesis  hematopoietic system  homeostasis/metabolism 
     liver/biliary system  nervous system  pigmentation  vision/eye 

    HEPH for phenotypes           About GeneDecksing


    Pathways & Interactions
    for HEPH gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1SLC-mediated transmembrane transport
    		SLC-mediated transmembrane transport1.00
    		Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    		Transmembrane transport of small molecules0.50
    2Mineral absorption
    		Mineral absorption1.00
    3Zinc transporters
    		Metal ion SLC transporters0.68
    4Insulin receptor recycling
    		Iron uptake and transport0.56

    Pathway sources
    See GeneCards unified pathways
    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): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006825copper ion transport IEA--
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0055085transmembrane transport TAS--


    HEPH for ontologies           About GeneDecksing



    Drugs & Compounds
    for HEPH gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for HEPH gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for HEPH gene (3 alternative transcripts): 
    NM_001130860.2  NM_014799.2  NM_138737.3  

    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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    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: HEPH 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HEPH (see all 7)
    OriGene shRNA RFP: HEPH
    OriGene siRNA: HEPH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HEPH
    Clone
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    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 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    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 cDNA 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):

    BM682481 AW613317 AW611927 AB014598 AW016188 AK022472 BQ021181 AI203260 
    AI635409 BX110441 AA515535 AW237000 AA446957 BM786341 AJ296162 AA587621 
    BC011561 CB158766 BM971345 AF075034 AW000869 AA476631 BU739057 H20113 

    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

    Expression
    for HEPH gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTTAGACAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    HEPH expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbZeugopodMesenchymal Condensate CellsBone, Cartilage
    AdiposeVisceral White AdiposeAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 7 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor EN13 (Embryonic Progenitor Cell)
    PureStem™ progenitor EN27 (Embryonic Progenitor Cell)
    PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)
    PureStem™ progenitor SK17 (Embryonic Progenitor Cell)
    PureStem™ progenitor Z1 (Embryonic Progenitor Cell)
    Line H9 (WA09) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass

    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
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    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
    for HEPH gene

    (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 2/11 species (see all 11)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves HEPH1 hephaestin 66.03(n)
    64.49(a)    		   422168  XM_420165.3  XP_420165.3 
    lizard
    (Anolis carolinensis)    		 Reptilia HEPH6
    		 --
    		 60(a)
    		 1 ↔ 1
    		 GL343465.1(664321-689639)


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

    Paralogs
    for HEPH gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HEPH gene
    HEPHL12  CP2  F52  F82  
    7 SIMAP similar genes for HEPH using alignment to 7 protein entries:     HEPH_HUMAN (see all proteins):
    HEPHL1    F8c    CP    F8C    F8    factor V
    F5

    HEPH for paralogs           About GeneDecksing



    Genomic Variants
    for HEPH gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1391 NCBI SNPs in HEPH are shown (see all 1391)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1883691421,2
    		--65380480(+) GTGGTC/GGTGGG 1 -- us2k10--------
    rs1466892021,2
    		--65380594(+) TCATCA/GGAGGA 1 -- us2k10--------
    rs1918746561,2
    		--65380820(+) ATTATA/TCCTGT 1 -- us2k10--------
    rs1844377521,2
    		--65380954(+) CCTAGA/GCCATG 1 -- us2k10--------
    rs1893163131,2
    		--65380964(+) GTTGAC/TTCTAA 1 -- us2k10--------
    rs1822977351,2
    		--65381082(+) AAAGAC/TGTTCT 1 -- us2k10--------
    rs1870806791,2
    		--65381083(+) AAGATA/GTTCTA 1 -- us2k10--------
    rs1117990421,2
    		C,--65381104(+) TTAACC/ACATGA 1 -- us2k11Minor allele frequency- A:0.00CSA 1
    rs1895245011,2
    		--65381129(+) TATTCC/TGGTCT 1 -- us2k10--------
    rs1814683301,2
    		--65381250(+) CTTCAC/TCCTTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HEPH (65382391 - 65488709 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for HEPH: --
    Locus Specific Mutation Databases (LSDB): HEPH

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HEPH
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    Disorders / Diseases
    for HEPH gene

    (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.)
    About This Section
    HEPH for disorders           About GeneDecksing

    OMIM gene information: 300167    OMIM disorders: --

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

    3 diseases from the University of Copenhagen DISEASES database for HEPH:
    Aceruloplasminemia     Hemochromatosis     Atransferrinemia

    10/11 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: HEPH (1 document)

    Export disorders for HEPH gene to outside databases

    Publications
    for HEPH gene

    (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 75):
    (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. 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)
    4. 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)
    5. 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)
    6. 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)
    7. 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)
    8. 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)
    9. Duodenal cytochrome b and hephaestin expression in patients with iron deficiency and hemochromatosis. (PubMed id 12949720)1, 9 Zoller H....Weiss G. (2003)
    10. Human hephaestin expression is not limited to enteroc ytes of the gastrointestinal tract but is also found in the antrum, the enteric nervous system, and pancreatic {beta}-cells. (PubMed id 20019163)1, 9 Hudson D.M....MacGillivray R.T. (2010)

    External Searches for HEPH gene

    (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)

    Genome Databases showing HEPH gene

    (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

    Other Databases showing HEPH gene

    (According to HUGE)
    About This Section
    HUGE: KIAA0698

    Specialized Databases showing HEPH gene

    (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

    Intellectual Property
    for HEPH gene

    (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



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    About This Section

     
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