Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



ENG Gene

protein-coding   GIFtS: 68
GCID: GC09M130577

Endoglin

(Previous name: Osler-Rendu-Weber syndrome 1)
(Previous symbols: ORW1, ORW)
  See ENG-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

TryGeneCards Plus

Aliases
endoglin1 2     ORW1 5
END2 3 5     HHT12 5
ORW11 2     Osler-Rendu-Weber Syndrome 11
CD105 Antigen2 3     

External Ids:    HGNC: 33491   Entrez Gene: 20222   Ensembl: ENSG000001069917   OMIM: 1311955   UniProtKB: P178133   

Export aliases for ENG gene to outside databases

Previous GC identifers: GC09M121691 GC09M122223 GC09M124030 GC09M125953 GC09M127656 GC09M129617 GC09M100194


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

TryGeneCards Plus

Entrez Gene summary for ENG Gene:
This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium.
This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and
beta3 peptides with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known
as Osler-Rendu-Weber syndrome 1, an autosomal dominant multisystemic vascular dysplasia. This gene may also be
involved in preeclampsia and several types of cancer. Alternatively spliced transcript variants encoding
different isoforms have been found for this gene. (provided by RefSeq, May 2013)

GeneCards Summary for ENG Gene:
ENG (endoglin) is a protein-coding gene. Diseases associated with ENG include hereditary hemorrhagic telangiectasia, and refractory cytopenia with multilineage dysplasia. GO annotations related to this gene include glycosaminoglycan binding and protein homodimerization activity. An important paralog of this gene is TGFBR3L.

UniProtKB/Swiss-Prot: EGLN_HUMAN, P17813
Function: Major glycoprotein of vascular endothelium. Involved in the regulation of angiogenesis. May play a
critical role in the binding of endothelial cells to integrins and/or other RGD receptors. Acts as TGF-beta
coreceptor and is involved in the TGF-beta/BMP signaling cascade. Required for GDF2/BMP9 signaling through SMAD1
in endothelial cells and modulates TGF-beta1 signaling through SMAD3

Gene Wiki entry for ENG (Endoglin) 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NC_018920.2  NT_008470.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the ENG gene promoter:
         AP-2alpha isoform 3   AP-1   AP-2alpha isoform 4   AP-2alpha isoform 2   AP-2alpha   
         Other transcription factors

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

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


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

Entrez Gene cytogenetic band: 9q34.11   Ensembl cytogenetic band:  9q34.11   HGNC cytogenetic band: 9q34.11

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

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M130577:  view genomic region     (about GC identifiers)

Start:
130,577,291 bp from pter      End:
130,617,047 bp from pter
Size:
39,757 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.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: EGLN_HUMAN, P17813 (See protein sequence)
Recommended Name: Endoglin precursor  
Size: 658 amino acids; 70578 Da
Subunit: Homodimer that forms a heteromeric complex with the signaling receptors for transforming growth
factor-beta: TGFBR1 and/or TGFBR2. It is able to bind TGF-beta 1, and 3 efficiently and TGF-beta 2 less
efficiently. Interacts with TCTEX1D4. Interacts with ARRB2. Interacts with GDF2
Secondary accessions: Q14248 Q14926 Q5T9C0
Alternative splicing: 2 isoforms:  P17813-1   P17813-2   

Explore the universe of human proteins at neXtProt for ENG: NX_P17813

Explore proteomics data for ENG at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn88, Asn102, Asn121, Asn134, Asn307
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (3 alternative transcripts): 
    NP_000109.1  NP_001108225.1  NP_001265067.1  

    ENSEMBL proteins: 
     ENSP00000362299   ENSP00000341917  

    ENG Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for ENG (Endoglin/CD105)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ENG
    OriGene Protein Over-expression Lysate for ENG
    OriGene MassSpec for ENG
    OriGene Custom Protein Services for ENG
    GenScript Custom Purified and Recombinant Proteins Services for ENG
    Novus Biologicals ENG Proteins
    Novus Biologicals ENG Lysates
    Sino Biological Recombinant Protein for ENG
    Sino Biological Cell Lysate for ENG
    ProSpec Recombinant Protein for ENG
    Cloud-Clone Corp. Proteins for ENG

     
    Search eBioscience for Proteins for ENG 

     
    antibodies-online proteins for ENG (11 products) 

     
    antibodies-online peptides for ENG

    ENG Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ENG
    R&D Systems Antibodies for ENG (Endoglin/CD105)
    OriGene Antibodies for ENG
    OriGene Custom Antibody Services for ENG
    Novus Biologicals ENG Antibodies
    Abcam antibodies for ENG
    Cloud-Clone Corp. Antibodies for ENG
    ThermoFisher Antibody for ENG
    antibodies-online antibodies for ENG (16 products) 

    ENG Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ENG
    R&D Systems ELISAs for ENG (Endoglin/CD105)         (see all)
    GenScript Custom Assay Services for ENG
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ENG
    Cloud-Clone Corp. CLIAs for ENG
    eBioscience ELISAs for ENG: (see all 2
                        Human sCD105 (Endoglin) Instant ELISA 128 tests
    antibodies-online kits for ENG 


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

    TryGeneCards Plus
    HGNC Gene Families:
    CD: CD molecules

    1 InterPro protein domain:
     IPR001507 ZP_dom

    Graphical View of Domain Structure for InterPro Entry P17813

    ProtoNet protein and cluster: P17813


    Find genes that share domains with ENG           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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EGLN_HUMAN, P17813
    Function: Major glycoprotein of vascular endothelium. Involved in the regulation of angiogenesis. May play a
    critical role in the binding of endothelial cells to integrins and/or other RGD receptors. Acts as TGF-beta
    coreceptor and is involved in the TGF-beta/BMP signaling cascade. Required for GDF2/BMP9 signaling through SMAD1
    in endothelial cells and modulates TGF-beta1 signaling through SMAD3

         Genatlas biochemistry entry for ENG:
    endoglin,68kDa,TGF beta binding glycoprotein of endothelial cells,homodimeric component of the TGFBR1
    complex,proliferation associated antigen,marker of breast carcinoma

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888transmembrane signaling receptor activity NAS18974388
    GO:0005024transforming growth factor beta-activated receptor activity IDA18223685
    GO:0005072transforming growth factor beta receptor, cytoplasmic mediator activity IDA12015308
    GO:0005114type II transforming growth factor beta receptor binding ISS8294451
    GO:0005515contributes to protein binding IPI9872992
         
    Find genes that share ontologies with ENG           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for ENG:
     Decreased circadian period len  Increased cell death HMECs cel 

         13 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Eng):
     cardiovascular system  cellular  craniofacial  embryogenesis  growth/size/body 
     hematopoietic system  homeostasis/metabolism  integument  mortality/aging  muscle 
     nervous system  normal  respiratory system 

    Find genes that share phenotypes with ENG           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ENG: Engtm2.2Hma Engtm1Dyl

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target ENG:
    hsa-let-7b-5p (MIRT032385)

    Block miRNA regulation of human, mouse, rat ENG using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ENG (see all 11):
    hsa-miR-4264 hsa-miR-486-3p hsa-miR-29b-1* hsa-miR-370 hsa-miR-3920 hsa-miR-1207-3p hsa-miR-342-5p hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidENG 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ENG
    Predesigned siRNA for gene silencing in human, mouse, rat ENG

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

    Clone
    Products:
         
    OriGene clones in human, mouse for ENG (see all 11)
    OriGene ORF clones in mouse, rat for ENG
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ENG (NM_000118)
    Sino Biological Human cDNA Clone for ENG
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ENG
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ENG

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ENG
    Browse ESI BIO Cell Lines and PureStem Progenitors for ENG 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENG

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-10201) for ENG 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    EGLN_HUMAN, P17813: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    extracellular4
    nucleus4
    plasma membrane4
    cytoskeleton1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA19004009
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0009897external side of plasma membrane IDA1537377

    Find genes that share ontologies with ENG           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).
    About This Section

    TryGeneCards Plus

    SuperPaths for ENG About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1TGF Beta Signaling Pathway
    TGF Beta Signaling Pathway
    2TGF-beta/Smad Signaling
    TGF-beta/Smad Signaling
    3TGF-beta Signaling Pathways
    TGF-beta Signaling Pathways
    4TGF-beta Signaling Pathway (sino)
    TGF-beta Signaling Pathway
    5TGF-beta Receptor Signaling Pathway
    TGF-beta Receptor Signaling Pathway


    Find genes that share SuperPaths with ENG           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for ENG
        TGF-beta Signaling Pathways


    2 Cell Signaling Technology (CST) Pathways for ENG
        Angiogenesis
    TGF-beta/Smad Signaling

    3 BioSystems Pathways for ENG
        TGF Beta Signaling Pathway
    TGF-beta Receptor Signaling Pathway
    HIF-1-alpha transcription factor network

    1 Sino Biological Pathway for ENG
        TGF-beta Signaling Pathway


        Pathway & Disease-focused RT2 Profiler PCR Arrays including ENG (see all 9): 
              Fibrosis in human mouse rat
              Cell Surface Markers in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat
              Angiogenesis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ENG

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for ENG (P178131, 2, 3 ENSP000003622994) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITGA5P086481, 2EBI-2834630,EBI-1382311 MINT-8410638 MINT-8415270 MINT-8415254 MINT-8415288
    ITGB1P055561, 2EBI-2834630,EBI-703066 MINT-8410725 MINT-8415241 MINT-8410698
    TGFB1P011371, 3, ENSP000002219304EBI-2834630,EBI-779636 I2D: score=3 STRING: ENSP00000221930
    ARRB2P321212, 3MINT-8410792 I2D: score=1 
    TGFBR2P371733, ENSP000003519054I2D: score=5 STRING: ENSP00000351905
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 47):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA18974388
    GO:0001300chronological cell aging IEP18974388
    GO:0001525angiogenesis ----
    GO:0001569patterning of blood vessels ISS8194490
    GO:0001570vasculogenesis IMP7894484

    Find genes that share ontologies with ENG           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)
    About This Section

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

    Browse Tocris compounds for ENG (EGLN)

    Selected Novoseek inferred chemical compound relationships for ENG gene (see all 24)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vegf 73.4 210 16967447 (8), 16826056 (7), 19890661 (5), 15274325 (5) (see all 76)
    tgf beta1 63.8 30 17119348 (4), 12778073 (3), 10754488 (2), 9348229 (2) (see all 13)
    matrigel 48.7 5 20224041 (1), 15722513 (1), 18814342 (1), 18798555 (1) (see all 5)
    tyrosine 47.6 89 19943826 (7), 20223446 (3), 19474289 (2), 17618745 (2) (see all 58)
    threonine 13.9 8 16785228 (2), 12786761 (1), 15967783 (1), 9808055 (1)
    tripeptide 13.6 5 8125301 (1), 8294451 (1), 16785228 (1)
    paraffin 13.3 7 15355911 (4), 17594108 (1), 16523306 (1)
    p002 5.32 2 10996361 (1), 16854456 (1)
    ricin 3.65 2 14760060 (1), 16789887 (1)
    p005 0 3 14669355 (1)



    Find genes that share compounds with ENG           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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for ENG gene (3 alternative transcripts): 
    NM_000118.3  NM_001114753.2  NM_001278138.1  

    Unigene Cluster for ENG:

    Endoglin
    Hs.76753  [show with all ESTs]
    Unigene Representative Sequence: NM_000118
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373203(uc011mam.2 uc004bsj.4) ENST00000344849(uc004bsk.4)
    ENST00000480266 ENST00000486329 ENST00000462196
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ENG using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ENG (see all 11):
    hsa-miR-4264 hsa-miR-486-3p hsa-miR-29b-1* hsa-miR-370 hsa-miR-3920 hsa-miR-1207-3p hsa-miR-342-5p hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidENG 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ENG
    Predesigned siRNA for gene silencing in human, mouse, rat ENG
    Clone
    Products:
         
    OriGene clones in human, mouse for ENG (see all 11)
    OriGene ORF clones in mouse, rat for ENG
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ENG (NM_000118)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ENG
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ENG
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for ENG
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ENG
      QuantiTect SYBR Green Assays in human, mouse, rat ENG
      QuantiFast Probe-based Assays in human, mouse, rat ENG
    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-10201) for ENG 

    Additional mRNA sequence: 

    AK222669.1 AK223044.1 AK290389.1 AK300156.1 AK301171.1 AK302455.1 BC014271.2 BC020391.1 
    BT006872.1 J05481.1 X72012.1 

    Selected DOTS entries (see all 40):

    DT.119587  DT.121182649  DT.100766537  DT.95316150  DT.121182674  DT.121182644  DT.121182681  DT.121182743 
    DT.97860773  DT.121182679  DT.75151666  DT.121182670  DT.97860771  DT.101985502  DT.121182654  DT.121182839 
    DT.121182647  DT.121182646  DT.95325839  DT.102825034  DT.100039593  DT.101985503  DT.121182814  DT.121182660 

    Selected AceView cDNA sequences (see all 478):

    AW051717 BQ271719 BM707934 CA407424 BQ019502 BM987391 BF058826 BQ019802 
    AI859146 AI984554 BM970342 BM708879 BM980518 BE463499 CD368495 BQ015551 
    CB069495 CA426183 CB046607 CA448663 BF116209 BQ947960 CN483162 CD105765 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ENG (see all 12)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a ·
    SP1:                                                                                                                                      -     -               
    SP2:                                -                                                                                                                           
    SP3:                                -     -     -     -                                                                                                         
    SP4:              -                 -     -     -     -                                                                                                         
    SP5:                                                                                            -                                                               

    ExUns: 15b ^ 16 ^ 17
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for ENG

    (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)
    About This Section

    TryGeneCards Plus

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


    ENG expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 35) fully expand
     
     Mesenchymal Stem Cells
             Bone Marrow Stromal Cells Bone Marrow
             Placenta-derived adherent stromal cell (PLX)
             Mesenchymal-like stem cells
     
     Bone (Muscoskeletal System)    fully expand to see all 32 entries
             Bone Marrow Stromal Cells Bone Marrow
             Bone marrow-derived mesenchymal stem cells (HYNR-CS inj)
     
     Adipose (Muscoskeletal System)    fully expand to see all 14 entries
             Stromal Vascular Preadipocyte Progenitor Cells Vascular Adipose
             Interscapular Brown Adipose Depot
             Adipose-derived stem and regenerative cell
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 10 entries
             Chorionic Mesenchymal Stromal Cells Chorionic Villus
             Placenta-derived stem cells
             placenta ; decidual cells   
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 9 entries
             Mesenchymal Stem Cells Wharton's Jelly
             Wharton-Jelly mesenchymal stem cells
    ENG Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ENG Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.76753

    UniProtKB/Swiss-Prot: EGLN_HUMAN, P17813
    Tissue specificity: Endoglin is restricted to endothelial cells in all tissues except bone marrow

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ENG (see all 9): 
              Fibrosis in human mouse rat
              Cell Surface Markers in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat
              Angiogenesis in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for ENG
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ENG
    QuantiTect SYBR Green Assays in human, mouse, rat ENG
    QuantiFast Probe-based Assays in human, mouse, rat ENG
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENG

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for ENG gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Eng1 , 5 endoglin1, 5 79.16(n)1
    72.5(a)1
      2 (22.09 cM)5
    138051  NM_001146348.11  NP_001139820.11 
     326465955 
    chicken
    (Gallus gallus)
    Aves ENG1 endoglin 52.22(n)
    38.95(a)
      771557  NM_001080887.1  NP_001074356.1 
    lizard
    (Anolis carolinensis)
    Reptilia ENG6
    endoglin
    27(a)
    1 ↔ 1
    GL344913.1(1481-15843)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia eng1 endoglin 43.27(n)
    31.05(a)
      100491276  XM_002935500.2  XP_002935546.2 
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01064405.16
    Uncharacterized protein
    16(a)
    many ↔ many
    3(6273243-6307324) ENSDARG00000088795


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for ENG gene
    TGFBR3L2  TGFBR32  

    Find genes that share paralogs with ENG           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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for ENG (see all 1103)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1163308051,2,,4
    C,FTelangiectasia, hereditary hemorrhagic, 1 (HHT1)4 --130593642(+) TTCCAC/TGGTGC 6 M V mis13Minor allele frequency- T:0.01WA NA EU 5887
    VAR_0371404
    Telangiectasia, hereditary hemorrhagic, 1 (HHT1)4--see VAR_0371402 G V mis40--------
    VAR_0703014
    Telangiectasia, hereditary hemorrhagic, 1 (HHT1)4--see VAR_0703012 G D mis40--------
    VAR_0051974
    Telangiectasia, hereditary hemorrhagic, 1 (HHT1)4--see VAR_0051972 L P mis40--------
    VAR_0702794
    Telangiectasia, hereditary hemorrhagic, 1 (HHT1)4--see VAR_0702792 A D mis40--------
    VAR_0702974
    Telangiectasia, hereditary hemorrhagic, 1 (HHT1)4--see VAR_0702972 R W mis40--------
    VAR_0091204
    Telangiectasia, hereditary hemorrhagic, 1 (HHT1)4--see VAR_0091202 A D mis40--------
    VAR_0702854
    Telangiectasia, hereditary hemorrhagic, 1 (HHT1)4--see VAR_0702852 I T mis40--------
    VAR_0051934
    Telangiectasia, hereditary hemorrhagic, 1 (HHT1)4--see VAR_0051932 G V mis40--------
    VAR_0702954
    Telangiectasia, hereditary hemorrhagic, 1 (HHT1)4--see VAR_0702952 C Y mis40--------

    HapMap Linkage Disequilibrium report for ENG (130577291 - 130617047 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ENG (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv893865CNV Loss21882294
    nsv893880CNV Loss21882294
    nsv471323CNV Loss18288195
    dgv8287n71CNV Loss21882294
    dgv8292n71CNV Loss21882294
    dgv8291n71CNV Loss21882294
    dgv8290n71CNV Loss21882294
    nsv466576CNV Loss19166990
    nsv893868CNV Loss21882294
    dgv8288n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): ENG
    Locus Specific Mutation Databases (LSDB): ENG

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ENG
    DNA2.0 Custom Variant and Variant Library Synthesis for ENG

    (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

    TryGeneCards Plus
    OMIM gene information: 131195   
    OMIM disorders: 187300  
    UniProtKB/Swiss-Prot: EGLN_HUMAN, P17813
  • Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]: A multisystemic vascular dysplasia leading
    to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease
    is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes
    arteriovenous malformations of the lung, liver, and brain. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 18 diseases for ENG:    
    About MalaCards
    hereditary hemorrhagic telangiectasia    refractory cytopenia with multilineage dysplasia    familial cerebral saccular aneurysm    weber syndrome
    eng-related hereditary hemorrhagic telangiectasia    hereditary hemorrhagic telangiectasia type 2    angiodysplasia    tufted angioma
    pulmonary arteriovenous malformation    arteriovenous malformation    juvenile polyposis syndrome    juvenile nasopharyngeal angiofibroma
    telangiectasis    laryngeal carcinoma    intracranial aneurysm    trachoma
    renal fibrosis    malaria

    2 diseases from the University of Copenhagen DISEASES database for ENG:
    Hereditary hemorrhagic telangiectasia     Telangiectasis

    Find genes that share disorders with ENG           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ENG gene (see all 85)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    telangiectasia hereditary hemorrhagic 93.8 94 9366572 (2), 10767348 (2), 11395379 (2), 16470589 (2) (see all 61)
    telangiectasia 86.5 47 12920067 (2), 19576647 (2), 9153532 (1), 16059938 (1) (see all 32)
    arteriovenous malformations 78.6 26 16470787 (3), 16179574 (2), 9366572 (1), 16059938 (1) (see all 18)
    preeclampsia 78.4 101 16957146 (5), 17689641 (5), 18515525 (4), 18607829 (4) (see all 62)
    vascular diseases 57 22 9366572 (1), 11382917 (1), 12667943 (1), 15385967 (1) (see all 17)
    neovascularization 56.3 18 11821796 (1), 14683500 (1), 11891945 (1), 17682823 (1) (see all 11)
    dysplasia 53.6 33 16595794 (2), 19273317 (2), 11821796 (1), 16153457 (1) (see all 17)
    angiodysplasia 48.1 6 10187774 (1), 16429404 (1), 19205515 (1)
    polyposis 47.6 7 16287957 (2), 16705692 (1), 16690726 (1), 20101697 (1)
    genetic disorder 46.8 13 9366572 (1), 10625534 (1), 15385967 (1), 19762327 (1) (see all 9)

    GeneTests: ENG
    GeneReviews: ENG
    Genetic Association Database (GAD): ENG
    Human Genome Epidemiology (HuGE) Navigator: ENG (114 documents)

    Export disorders for ENG 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

    TryGeneCards Plus

    PubMed articles for ENG gene, integrated from 10 sources (see all 912):
    (articles sorted by number of sources associating them with ENG)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype. (PubMed id 16752392)1, 2, 4, 9 Bossler A.D....Ganguly A. (Hum. Mutat. 2006)
    2. The interaction of endoglin with beta-arrestin2 regulates transforming growth factor-beta-mediated ERK activation and migration in endothelial cells. (PubMed id 17540773)1, 2, 9 Lee N.Y. and Blobe G.C. (J. Biol. Chem. 2007)
    3. Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients. (PubMed id 16705692)1, 4, 9 Lesca G....Giraud S. (Hum. Mutat. 2006)
    4. Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations. (PubMed id 15712270)1, 2, 9 Kuehl H.K.A.... Stuhrmann M. (Hum. Mutat. 2005)
    5. Mutation analysis of &quot;Endoglin&quot; and &quot;Activin receptor-like kinase&quot; genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique. (PubMed id 19508727)1, 4, 9 Sadick H....Bugert P. (BMC Med. Genet. 2009)
    6. Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. (PubMed id 12920067)1, 4, 9 Berg J....Guttmacher A. (J. Med. Genet. 2003)
    7. Endoglin is not a major susceptibility gene for intracranial aneurysm among Japanese. (PubMed id 12775886)1, 4, 9 Onda H....Inoue I. ( a journal of cerebral circulation 2003)
    8. Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers. (PubMed id 17388964)1, 4, 9 SabbA C....Guant G. (J. Thromb. Haemost. 2007)
    9. Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia. (PubMed id 16525724)1, 2, 9 Argyriou L....Nayernia K. (Int. J. Mol. Med. 2006)
    10. Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. (PubMed id 15024723)1, 2, 9 Lesca G.... Giraud S. (Hum. Mutat. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 2022 HGNC: 3349 AceView: ENG Ensembl:ENSG00000106991 euGenes: HUgn2022
    ECgene: ENG H-InvDB: ENG

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for ENG Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ENG Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ENG[genesymbol]
    Hereditary Hemorrhagic Telangiectasia and ENGhttp://arup.utah.edu/database/ENG/ENG_welcome.php

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

    TryGeneCards Plus
    Patent Information for ENG gene:
    Search GeneIP for patents involving ENG

    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
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     Browse Small Molecules at EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of ENG
     
     EMD Millipore genomic analysis products

      
     Antibodies for ENG (Endoglin/CD105)   Browse Cell Culture Products  
     ELISAs for ENG (Endoglin/CD105)   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot 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   Luminex Assays for ENG (Endoglin/CD105)  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Recombinant/Natural Proteins for ENG (Endoglin/CD105)   Browse Stem Cell Products  
     Browse cDNA Clones   Proteome Profiler Antibody Arrays for ENG (Endoglin/CD105)  
     OriGene Antibodies for ENG   OriGene RNAi products in human, mouse, rat for ENG  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for ENG  
     OriGene MassSpec for ENG   OriGene clones in human, mouse for ENG  
     OriGene qSTAR qPCR primer pairs in human, mouse for ENG   OriGene Purified Protein for ENG  
     OriGene ORF clones in mouse, rat for ENG   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ENG   OriGene Custom Protein Services for ENG  

     
     
     Block miRNA regulation of human, mouse, rat ENG using miScript Target Protectors SeqTarget long-range PCR primers for resequencing ENG
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ENG Predesigned siRNA for gene silencing in human, mouse, rat ENG
     QuantiFast Probe-based Assays in human, mouse, rat ENG QuantiTect SYBR Green Assays in human, mouse, rat ENG
     PCR Arrays including human, mouse, rat ENG Search Chromatin IP Primers for ENG
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ENG  GeneGlobe Interaction Network for ENG
     Regulatory tfbs in ENG promoter
     GenScript Custom Purified and Recombinant Proteins Services for ENG GenScript cDNA clones with any tag delivered in your preferred vector for ENG
     GenScript Custom Assay Services for ENG GenScript Custom overexpressing Cell Line Services for ENG
     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

     Search Tocris compounds for ENG (EGLN)
     Proteins for ENG
     Cell Lysates for ENG
     cDNA Clones for ENG
     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
     ENG antibodies
     ENG proteins
     ENG lysates
     Antibodies for ENG
     See all of Abcam's Antibodies, Kits and Proteins for ENG
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for ENG
     Proteins for ENG
     Antibodies for ENG
     ELISAs for ENG
     CLIAs for ENG



     Browse ESI BIO Cell Lines and PureStem Progenitors for ENG
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENG
     SwitchGear 3'UTR luciferase reporter plasmids for ENG
     SwitchGear Promoter luciferase reporter plasmids for ENG
     ThermoFisher Antibody for ENG
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ENG
     Browse compounds at ApexBio
     Search Addgene for plasmids for ENG
      Search eBioscience for proteins for ENG
     eBioscience elisas for ENG (Human sCD105 (Endoglin) Instant ELISA 128 tests)
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for ENG
     antibodies-online antibodies for ENG (16 products)
     antibodies-online kits for ENG
     antibodies-online peptides for ENG
     antibodies-online proteins for ENG (11 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 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      ENG gene at Home site.
    Version: 3.12.258 10 Dec 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4