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HBEGF Gene

protein-coding   GIFtS: 66
GCID: GC05M139694

Heparin-Binding EGF-Like Growth Factor

(Previous name: diphtheria toxin receptor (heparin-binding epidermal growth...)
(Previous symbols: HEGFL, DTS, DTR)
  See HBEGF-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
Heparin-Binding EGF-Like Growth Factor1 2     Diphtheria Toxin Receptor (Heparin-Binding EGF-Like Growth Factor)1 2
DTR1 2 3 5     Heparin-Binding Epidermal Growth Factor1 2
HEGFL1 2 3 5     DTSF2 5
DTS1 2 3     Proheparin-Binding EGF-Like Growth Factor2
Diphtheria Toxin Receptor (Heparin-Binding Epidermal Growth Factor-Like
Growth Factor)1 2
     

External Ids:    HGNC: 30591   Entrez Gene: 18392   Ensembl: ENSG000001130707   OMIM: 1261505   UniProtKB: Q990753   

Export aliases for HBEGF gene to outside databases

Previous GC identifer: GC05M134858


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for HBEGF Gene:
HBEGF (heparin-binding EGF-like growth factor) is a protein-coding gene. Diseases associated with HBEGF include perinatal necrotizing enterocolitis, and cystitis. GO annotations related to this gene include epidermal growth factor receptor binding and growth factor activity. An important paralog of this gene is AREGB.

UniProtKB/Swiss-Prot: HBEGF_HUMAN, Q99075
Function: Growth factor that mediates its effects via EGFR, ERBB2 and ERBB4. Required for normal cardiac valve
formation and normal heart function. Promotes smooth muscle cell proliferation. May be involved in
macrophage-mediated cellular proliferation. It is mitogenic for fibroblasts, but not endothelial cells. It is
able to bind EGF receptor/EGFR with higher affinity than EGF itself and is a far more potent mitogen for smooth
muscle cells than EGF. Also acts as a diphtheria toxin receptor

Gene Wiki entry for HBEGF (Heparin-binding EGF-like growth factor) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_029289.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the HBEGF gene promoter:
         ER-alpha   STAT1   STAT1beta   STAT5A   Nkx2-5   STAT1alpha   CREB   FOXC1   CP2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHBEGF promoter sequence
   Search Chromatin IP Primers for HBEGF

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


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

Entrez Gene cytogenetic band: 5q23   Ensembl cytogenetic band:  5q31.3   HGNC cytogenetic band: 5q23

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M139694:  view genomic region     (about GC identifiers)

Start:
139,712,428 bp from pter      End:
139,726,216 bp from pter
Size:
13,789 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: HBEGF_HUMAN, Q99075 (See protein sequence)
Recommended Name: Proheparin-binding EGF-like growth factor precursor  
Size: 208 amino acids; 23067 Da
Subunit: Interacts with FBLN1 (By similarity). Interacts with EGFR and ERBB4
1 PDB 3D structure from and Proteopedia for HBEGF:
1XDT (3D)    
Secondary accessions: B2R821

Explore the universe of human proteins at neXtProt for HBEGF: NX_Q99075

Explore proteomics data for HBEGF at MOPED

Post-translational modifications: 

  • Several N-termini have been identified by direct sequencing. The forms with N-termini 63, 73 and 74 have been
    tested and found to be biologically active1
  • O-glycosylated with core 1 or possibly core 8 glycans. Thr-47 is a minor glycosylation site compared to Thr-441
  • Glycosylation2 at Thr37, Ser38, Thr44, Thr47, Thr75, Ser77, Ser78, Thr85
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_001936.1  
    ENSEMBL proteins: 
     ENSP00000230990   ENSP00000425696  
    Reactome Protein details: Q99075

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    Sino Biological Cell Lysate for HBEGF
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    Cloud-Clone Corp. Proteins for HBEGF

     
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    antibodies-online proteins for HBEGF (18 products) 

     
    antibodies-online peptides for HBEGF

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR000742 EG-like_dom
     IPR015497 EGF_rcpt_ligand
     IPR013032 EGF-like_CS

    Graphical View of Domain Structure for InterPro Entry Q99075

    ProtoNet protein and cluster: Q99075

    2 Blocks protein domains:
    IPB001336 Type I EGF signature
    IPB006210 Type I EGF


    UniProtKB/Swiss-Prot: HBEGF_HUMAN, Q99075
    Similarity: Contains 1 EGF-like domain


    Find genes that share domains with HBEGF           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HBEGF_HUMAN, Q99075
    Function: Growth factor that mediates its effects via EGFR, ERBB2 and ERBB4. Required for normal cardiac valve
    formation and normal heart function. Promotes smooth muscle cell proliferation. May be involved in
    macrophage-mediated cellular proliferation. It is mitogenic for fibroblasts, but not endothelial cells. It is
    able to bind EGF receptor/EGFR with higher affinity than EGF itself and is a far more potent mitogen for smooth
    muscle cells than EGF. Also acts as a diphtheria toxin receptor

         Summary: 

    During embryonic development, HBEGF as signaling molecule affects the following cells:
    Heart: Endocardial Cushion Cells (Atrioventricular Endocardial Cushion)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005154epidermal growth factor receptor binding IEA--
    GO:0005515protein binding ----
    GO:0008083growth factor activity IDA12070119
    GO:0008201heparin binding IMP8300582
         
    Find genes that share ontologies with HBEGF           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for HBEGF:
     Increased gamma-H2AX phosphory 

         11 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Hbegf):
     behavior/neurological  cardiovascular system  growth/size/body  homeostasis/metabolism  integument 
     mortality/aging  muscle  nervous system  normal  respiratory system 
     skeleton 

    Find genes that share phenotypes with HBEGF           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for HBEGF: Hbegftm3Mek Hbegftm1Dcl

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

    miRNA
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    miRTarBase miRNAs that target HBEGF:
    hsa-mir-132-3p (MIRT006659), hsa-mir-98-5p (MIRT027820), hsa-mir-192-5p (MIRT026939), hsa-mir-215-5p (MIRT024470), hsa-mir-194-5p (MIRT005891)

    Block miRNA regulation of human, mouse, rat HBEGF using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HBEGF (see all 66):
    hsa-miR-548j hsa-miR-4254 hsa-miR-128 hsa-miR-376a* hsa-miR-489 hsa-miR-548a-5p hsa-miR-376c hsa-miR-3622a-5p
    SwitchGear 3'UTR luciferase reporter plasmidHBEGF 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat HBEGF

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: HBEGF (NM_001945)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HBEGF
    Addgene plasmids for HBEGF 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HBEGF


    (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
    HBEGF_HUMAN, Q99075: Heparin-binding EGF-like growth factor: Secreted, extracellular space. Note=Mature HB-EGF is
    released into the extracellular space and probably binds to a receptor
    HBEGF_HUMAN, Q99075: Proheparin-binding EGF-like growth factor: Cell membrane; Single-pass type I membrane
    protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    nucleus2
    cytoskeleton1
    cytosol1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space TAS15389565
    GO:0005887integral component of plasma membrane TAS15389565
    GO:0009986cell surface NAS15289334

    Find genes that share ontologies with HBEGF           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 HBEGF About   (see all 25)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1ErbB signaling pathway
    ErbB signaling pathway0.52
    EGFR Inhibitor Pathway, Pharmacodynamics0.49
    ErbB signaling pathway0.52
    ErbB receptor signaling network0.00
    2Development Endothelin 1 EDNRA signaling
    Development Endothelin 1 EDNRA transactivation of EGFR0.41
    Estrogen signaling pathway0.34
    GnRH signaling pathway0.38
    3PI-3K cascade
    PI3K/AKT activation0.93
    PI3K/AKT Signaling in Cancer0.88
    GAB1 signalosome0.93
    PI3K events in ERBB4 signaling0.88
    Constitutive PI3K/AKT Signaling in Cancer0.88
    Role of LAT2/NTAL/LAB on calcium mobilization0.80
    PIP3 activates AKT signaling0.88
    Signaling by SCF-KIT0.72
    4Signaling by FGFR
    Signaling by FGFR0.91
    DAP12 interactions0.89
    Signaling by FGFR in disease0.91
    Signaling by PDGF0.87
    Downstream signaling of activated FGFR0.91
    Signaling by EGFR0.83
    Downstream signal transduction0.90
    Signaling by EGFR in Cancer0.82
    5SHC1 events in ERBB2 signaling
    SHC1 events in ERBB2 signaling0.92
    SHC1 events in ERBB4 signaling0.84
    GRB2 events in ERBB2 signaling0.92


    Find genes that share SuperPaths with HBEGF           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for HBEGF (see all 26)
        MAPK Signaling
    Nuclear Receptor Activation by Vitamin-A
    DHA Signaling
    G-Beta Gamma Signaling
    Actin-Based Motility by Rho Family GTPases

    Selected GeneGo (Thomson Reuters) Pathways for HBEGF (see all 9)
        Development ERBB-family signaling
    Neurophysiological process Receptor-mediated axon growth repulsion
    Development Endothelin-1/EDNRA transactivation of EGFR
    Development Angiotensin activation of ERK
    Development EGFR signaling pathway

    Selected BioSystems Pathways for HBEGF (see all 6)
        ErbB signaling pathway
    Hypertrophy Model
    LPA receptor mediated events
    ErbB4 signaling events
    ErbB receptor signaling network

    1 Sino Biological Pathway for HBEGF
        EGFR Signaling Pathway

    Selected Reactome Pathways for HBEGF (see all 11)
        EGFR Transactivation by Gastrin
    GRB2 events in ERBB2 signaling
    PI3K events in ERBB2 signaling
    SHC1 events in ERBB2 signaling
    Signaling by ERBB2

    1 PharmGKB Pathway for HBEGF
        EGFR Inhibitor Pathway, Pharmacodynamics

    5 Kegg Pathways  (Kegg details for HBEGF):
        ErbB signaling pathway
    GnRH signaling pathway
    Estrogen signaling pathway
    Epithelial cell signaling in Helicobacter pylori infection
    Proteoglycans in cancer

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HBEGF: 
              Notch Signaling Targets in human mouse rat
              Growth Factors in human mouse rat
              Atherosclerosis in human mouse rat
              Wound Healing in human mouse rat
              EGF / PDGF Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for HBEGF

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

    Selected Interacting proteins for HBEGF (Q990752, 3 ENSP000002309904) via UniProtKB, MINT, STRING, and/or I2D (see all 35)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    S100A4P264472, 3, ENSP000003462944MINT-7256494 I2D: score=1 STRING: ENSP00000346294
    MMP7P092373, ENSP000002602274I2D: score=3 STRING: ENSP00000260227
    NRD1O438473, ENSP000003468904I2D: score=3 STRING: ENSP00000346890
    CD82P277013, ENSP000002271554I2D: score=2 STRING: ENSP00000227155
    LTBP3Q9NS153, ENSP000003018734I2D: score=1 STRING: ENSP00000301873
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction TAS1840698
    GO:0007173epidermal growth factor receptor signaling pathway TAS--
    GO:0007517muscle organ development TAS8347598
    GO:0008016regulation of heart contraction IEA--
    GO:0008543fibroblast growth factor receptor signaling pathway TAS--

    Find genes that share ontologies with HBEGF           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 HBEGF

    1 HMDB Compound for HBEGF    About this table
    CompoundSynonyms CAS #PubMed Ids
    HeparinArteven (see all 17)9005-49-6--

    Selected Novoseek inferred chemical compound relationships for HBEGF gene (see all 83)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ag 1478 80.8 22 14985295 (2), 11159045 (2), 12164862 (1), 16737974 (1) (see all 13)
    heparin 79.4 468 15331606 (8), 12236483 (7), 7706382 (6), 1306684 (5) (see all 99)
    diphtheria toxin 71.7 6 7646457 (3), 8379922 (1)
    pd153035 70.2 5 11169460 (3), 9276746 (1), 15562758 (1)
    heparan sulfate 68.2 40 8578521 (1), 10037743 (1), 9438425 (1), 11320054 (1) (see all 21)
    hcec 66.1 9 19797203 (1), 18495812 (1), 15277479 (1), 16799022 (1)
    tyrosine 59.3 47 9334263 (2), 11798972 (2), 9110152 (1), 10579352 (1) (see all 36)
    chondroitin sulfate 50.9 8 1306684 (1), 16175577 (1), 11421350 (1), 12634322 (1) (see all 6)
    vegf 50.8 54 9468491 (5), 10735511 (5), 15988409 (4), 17050278 (3) (see all 27)
    heparinoids 48.2 2 7685831 (1), 11115590 (1)



    Find genes that share compounds with HBEGF           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 HBEGF gene: 
    NM_001945.2  

    Unigene Cluster for HBEGF:

    Heparin-binding EGF-like growth factor
    Hs.799  [show with all ESTs]
    Unigene Representative Sequence: NM_001945
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000230990(uc003lfi.3 uc010jfj.3) ENST00000482211 ENST00000498452
    ENST00000507104
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate HBEGF (see all 66):
    hsa-miR-548j hsa-miR-4254 hsa-miR-128 hsa-miR-376a* hsa-miR-489 hsa-miR-548a-5p hsa-miR-376c hsa-miR-3622a-5p
    SwitchGear 3'UTR luciferase reporter plasmidHBEGF 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: HBEGF (NM_001945)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HBEGF
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HBEGF
    Addgene plasmids for HBEGF 
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat HBEGF
      QuantiFast Probe-based Assays in human, mouse, rat HBEGF

    Additional mRNA sequence: 

    AK222688.1 AK307310.1 AK313202.1 BC033097.1 M60278.1 

    4 DOTS entries:

    DT.117292  DT.86851568  DT.99971739  DT.95270771 

    Selected AceView cDNA sequences (see all 154):

    C04884 AA425157 CA433350 BM761883 H46786 BQ720838 AI129680 CA435723 
    M60278 AA410374 AI697686 BF594452 BF592951 BI910684 CB159853 W39595 
    D55114 AA343828 BQ416757 BC033097 NM_001945 BM762311 AI052201 BM969543 

    GeneLoc Exon Structure


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


    HBEGF expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 18) fully expand
     
     Epithelial Cells
             Duct Cells Pancreatic Ducts
     
     Endothelium (Cardiovascular System)
             Pericytes Microvessels
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebellum
             Oligodendrocyte-like cells
     
     Epidermis (Integumentary System)    fully expand to see all 3 entries
             Intermediate Keratinocytes Embryonic Epidermis
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    HBEGF Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HBEGF Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.799
        Pathway & Disease-focused RT2 Profiler PCR Arrays including HBEGF: 
              Notch Signaling Targets in human mouse rat
              Growth Factors in human mouse rat
              Atherosclerosis in human mouse rat
              Wound Healing in human mouse rat
              EGF / PDGF Signaling Pathway in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for HBEGF gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hbegf1 , 5 heparin-binding EGF-like growth factor1, 5 82.53(n)1
    80.77(a)1
      18 (19.46 cM)5
    152001  NM_010415.21  NP_034545.11 
     365049295 
    chicken
    (Gallus gallus)
    Aves HBEGF1 heparin-binding EGF-like growth factor 70.5(n)
    72.66(a)
      395654  NM_204849.1  NP_990180.1 
    lizard
    (Anolis carolinensis)
    Reptilia HBEGF6
    heparin-binding EGF-like growth factor
    52(a)
    1 ↔ 1
    4(78154735-78176565)
    zebrafish
    (Danio rerio)
    Actinopterygii AL924188.12   -- 76.11(n)    AL924188.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HBEGF gene
    AREGB2  AREG2  

    Find genes that share paralogs with HBEGF           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 HBEGF (see all 303)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1812596211,2
    --139711965(+) GCTGAC/TGGATT 1 -- int10--------
    rs114654611,2
    H--139712023(-) AGGCAT/CTGCTT 1 -- int17Minor allele frequency- C:0.00NA EU NS EA 504
    rs1387513851,2
    --139712047(+) GCATAG/TGAGTA 1 -- int10--------
    rs1405423421,2
    --139712093(+) GATATC/GTTCCC 1 -- int10--------
    rs1862403851,2
    --139712103(+) CTGATG/TACAGC 1 -- int10--------
    rs1504600271,2
    C--139712121(+) ACATGC/TTGTGC 1 -- int10--------
    rs22828021,2
    C,F,A,H--139712239(-) cttgcT/Ctgagg 1 -- int120Minor allele frequency- C:0.46NS EA NA EU WA CSA 1049
    rs1891090601,2
    --139712404(+) TTCCCA/GGTTAA 1 -- int10--------
    rs72681,2
    C,F,A,H--139712550(-) TGAAGG/TTATGC 1 -- ut3144Minor allele frequency- T:0.46NS MN EA NA EU WA CSA 4083
    rs41502421,2
    C,F,H--139712688(-) TTAGCA/CAAGCA 1 -- ut3117Minor allele frequency- C:0.04NS NA EU EA WA 1668

    HapMap Linkage Disequilibrium report for HBEGF (139712428 - 139726216 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for HBEGF:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509090CNV Insertion20534489
    nsv830507CNV Loss17160897

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

    (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: 126150    OMIM disorders: --

    7 diseases for HBEGF:    
    About MalaCards
    perinatal necrotizing enterocolitis    cystitis    diphtheria    urinary tract obstruction
    bladder disease    prostate disease    pancreatic cancer

    4 diseases from the University of Copenhagen DISEASES database for HBEGF:
    Diphtheria     Interstitial cystitis     Perinatal necrotizing enterocolitis     Cancer

    Find genes that share disorders with HBEGF           About GenesLikeMe

    Selected Novoseek inferred disease relationships for HBEGF gene (see all 90)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    diphtheria 79.9 138 1939100 (3), 7980519 (3), 7622504 (3), 10547351 (3) (see all 68)
    cystitis bacterial 54.6 3 9334654 (2), 11378043 (1)
    bladder diseases 48 1 9334654 (1)
    tumors 44.4 122 20190463 (6), 1279186 (4), 15289334 (4), 15313912 (4) (see all 60)
    cancer 39.3 59 20190463 (5), 20139904 (3), 18023415 (2), 12686563 (2) (see all 34)
    pancreatic cancer 38.5 26 8060360 (5), 15817123 (3), 10505759 (2), 20208558 (2) (see all 8)
    gastric cancer 37.4 24 8621250 (4), 19218109 (3), 11920609 (2), 14764442 (1) (see all 10)
    carcinoma embryonal 36.6 7 11169062 (1), 19152444 (1), 10902971 (1), 12507292 (1) (see all 7)
    hyperplasia 34.5 16 9858142 (3), 16470170 (2), 15866332 (1), 9426203 (1) (see all 7)
    enterocolitis necrotizing 32.5 9 19127210 (2), 14765365 (1), 16084404 (1), 16364500 (1) (see all 6)

    Genetic Association Database (GAD): HBEGF
    Human Genome Epidemiology (HuGE) Navigator: HBEGF (4 documents)

    Export disorders for HBEGF 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 HBEGF gene, integrated from 10 sources (see all 830):
    (articles sorted by number of sources associating them with HBEGF)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Activation of HER4 by heparin-binding EGF-like growth factor stimulates chemotaxis but not proliferation. (PubMed id 9135143)1, 2, 9 Elenius K.... Klagsbrun M. (EMBO J. 1997)
    2. Structure of heparin-binding EGF-like growth factor. Multiple forms, primary structure, and glycosylation of the mature protein. (PubMed id 1556128)1, 2, 9 Higashiyama S.... Klagsbrun M. (J. Biol. Chem. 1992)
    3. Diphtheria toxin binds to the epidermal growth factor (EGF)-like domain of human heparin-binding EGF-like growth factor/diphtheria toxin receptor and inhibits specifically its mitogenic activity. (PubMed id 7836353)1, 2, 9 Mitamura T.... Mekada E. (J. Biol. Chem. 1995)
    4. Mouse chromosomal location of three EGF receptor ligands: amphiregulin (Areg), betacellulin (Btc), and heparin-binding EGF (Hegfl). (PubMed id 7590736)1, 3, 9 Pathak B.G....Lee D.C. (Genomics 1995)
    5. A heparin-binding growth factor secreted by macrophage-like cells that is related to EGF. (PubMed id 1840698)1, 2, 9 Higashiyama S.... Klagsbrun M. (Science 1991)
    6. Crystal structure of the complex of diphtheria toxin with an extracellular fragment of its receptor. (PubMed id 9659904)1, 2, 9 Louie G.V.... Choe S. (Mol. Cell 1997)
    7. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (Nephron Clin Pract 2010)
    8. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    9. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)1, 2 Schmutz J.... Rubin E.M. (Nature 2004)
    10. 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)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1839 HGNC: 3059 AceView: DTR Ensembl:ENSG00000113070 euGenes: HUgn1839
    ECgene: HBEGF Kegg: 1839 H-InvDB: HBEGF

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HBEGF Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for HBEGF Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/dtr/

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

    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, eBioscience, antibodies-online, 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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