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Aliases for ENG Gene

Aliases for ENG Gene

  • Endoglin 2 3 5
  • CD105 Antigen 3 4
  • END 3 4
  • Osler-Rendu-Weber Syndrome 1 2
  • HHT1 3
  • ORW1 3

External Ids for ENG Gene

Previous HGNC Symbols for ENG Gene

  • ORW1
  • ORW

Previous GeneCards Identifiers for ENG Gene

  • GC09M121691
  • GC09M122223
  • GC09M124030
  • GC09M125953
  • GC09M127656
  • GC09M129617
  • GC09M130577
  • GC09M100194

Summaries for ENG Gene

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 telangiectasia, hereditary hemorrhagic, type 1 and hereditary hemorrhagic telangiectasia. Among its related pathways are HIF-1-alpha transcription factor network and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. GO annotations related to this gene include protein homodimerization activity and glycosaminoglycan binding. An important paralog of this gene is TGFBR3.

UniProtKB/Swiss-Prot for ENG Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENG Gene

Genomics for ENG Gene

Regulatory Elements for ENG Gene

Promoters for ENG Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ENG on UCSC Golden Path with GeneCards custom track

Genomic Location for ENG Gene

Chromosome:
9
Start:
127,815,012 bp from pter
End:
127,854,773 bp from pter
Size:
39,762 bases
Orientation:
Minus strand

Genomic View for ENG Gene

Genes around ENG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENG Gene

Proteins for ENG Gene

  • Protein details for ENG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17813-EGLN_HUMAN
    Recommended name:
    Endoglin
    Protein Accession:
    P17813
    Secondary Accessions:
    • Q14248
    • Q14926
    • Q5T9C0

    Protein attributes for ENG Gene

    Size:
    658 amino acids
    Molecular mass:
    70578 Da
    Quaternary structure:
    • 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.

    Alternative splice isoforms for ENG Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ENG Gene

Proteomics data for ENG Gene at MOPED

Post-translational modifications for ENG Gene

  • Glycosylation at Asn 88, Asn 102, Asn 121, Asn 134, and Asn 307
  • Modification sites at PhosphoSitePlus

Other Protein References for ENG Gene

Antibody Products

No data available for DME Specific Peptides for ENG Gene

Domains & Families for ENG Gene

Gene Families for ENG Gene

Protein Domains for ENG Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ENG: view

No data available for UniProtKB/Swiss-Prot for ENG Gene

Function for ENG Gene

Molecular function for ENG Gene

GENATLAS Biochemistry:
endoglin,68kDa,TGF beta binding glycoprotein of endothelial cells,homodimeric component of the TGFBR1 complex,proliferation associated antigen,marker of breast carcinoma
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for ENG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005539 glycosaminoglycan binding ISS 8294451
GO:0042803 protein homodimerization activity IPI 8370410
GO:0050431 contributes_to transforming growth factor beta binding IPI 9872992
genes like me logo Genes that share ontologies with ENG: view
genes like me logo Genes that share phenotypes with ENG: view

Human Phenotype Ontology for ENG Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ENG Gene

MGI Knock Outs for ENG:

Animal Model Products

  • Taconic Biosciences Mouse Models for ENG

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ENG Gene

Localization for ENG Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENG Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ENG Gene COMPARTMENTS Subcellular localization image for ENG gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 5
cytosol 3
cytoskeleton 2
vacuole 1

Gene Ontology (GO) - Cellular Components for ENG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0009986 cell surface IDA 18223685
genes like me logo Genes that share ontologies with ENG: view

Pathways & Interactions for ENG Gene

genes like me logo Genes that share pathways with ENG: view

Gene Ontology (GO) - Biological Process for ENG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001300 chronological cell aging IEP 18974388
GO:0001525 angiogenesis IEA --
GO:0001569 patterning of blood vessels ISS 8194490
GO:0001570 vasculogenesis IMP 7894484
GO:0003084 positive regulation of systemic arterial blood pressure IMP 18974388
genes like me logo Genes that share ontologies with ENG: view

No data available for SIGNOR curated interactions for ENG Gene

Drugs & Compounds for ENG Gene

(13) Drugs for ENG Gene - From: Novoseek and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
TRC105 Pharma inhibitor 0

(12) Additional Compounds for ENG Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ENG: view

Transcripts for ENG Gene

Unigene Clusters for ENG Gene

Endoglin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ENG Gene

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: -
SP6: -
SP7: - - - - - -
SP8: - - - - - -
SP9:
SP10:
SP11:
SP12:

ExUns: 15b ^ 16 ^ 17
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for ENG Gene

GeneLoc Exon Structure for
ENG
ECgene alternative splicing isoforms for
ENG

Expression for ENG Gene

mRNA expression in normal human tissues for ENG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ENG Gene

This gene is overexpressed in Heart - Atrial Appendage (x5.3).

Protein differential expression in normal tissues from HIPED for ENG Gene

This gene is overexpressed in Cerebral cortex (14.5), Ovary (12.8), and Serum (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ENG Gene



SOURCE GeneReport for Unigene cluster for ENG Gene Hs.76753

mRNA Expression by UniProt/SwissProt for ENG Gene

P17813-EGLN_HUMAN
Tissue specificity: Endoglin is restricted to endothelial cells in all tissues except bone marrow.
genes like me logo Genes that share expression patterns with ENG: view

Protein tissue co-expression partners for ENG Gene

Primer Products

In Situ Assay Products

Orthologs for ENG Gene

This gene was present in the common ancestor of chordates.

Orthologs for ENG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ENG 36
  • 99 (a)
OneToOne
ENG 35
  • 98.28 (n)
  • 98.53 (a)
cow
(Bos Taurus)
Mammalia ENG 36
  • 66 (a)
OneToOne
ENG 35
  • 80 (n)
  • 70.39 (a)
dog
(Canis familiaris)
Mammalia ENG 35
  • 81.9 (n)
  • 74.85 (a)
ENG 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eng 16
Eng 36
  • 71 (a)
OneToOne
Eng 35
  • 79.16 (n)
  • 72.5 (a)
oppossum
(Monodelphis domestica)
Mammalia ENG 36
  • 47 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eng 35
  • 78.94 (n)
  • 73.5 (a)
chicken
(Gallus gallus)
Aves ENG 35
  • 52.22 (n)
  • 38.95 (a)
ENG 36
  • 33 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ENG 36
  • 27 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eng 35
  • 43.27 (n)
  • 31.05 (a)
zebrafish
(Danio rerio)
Actinopterygii CABZ01064405.1 36
  • 16 (a)
ManyToMany
Species with no ortholog for ENG:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ENG Gene

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

Paralogs for ENG Gene

Paralogs for ENG Gene

genes like me logo Genes that share paralogs with ENG: view

Variants for ENG Gene

Sequence variations from dbSNP and Humsavar for ENG Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs35400405 - 127,854,342(+) GGAGC(A/G)TGCCG reference, missense
VAR_005193 Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
VAR_005194 Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
VAR_005195 Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
VAR_005197 Telangiectasia, hereditary hemorrhagic, 1 (HHT1)

Structural Variations from Database of Genomic Variants (DGV) for ENG Gene

Variant ID Type Subtype PubMed ID
nsv893859 CNV Loss 21882294
nsv893860 CNV Gain 21882294
nsv893865 CNV Loss 21882294
nsv893868 CNV Loss 21882294
dgv8287n71 CNV Loss 21882294
nsv471323 CNV Loss 18288195
dgv8288n71 CNV Loss 21882294
nsv466575 CNV Loss 19166990
nsv893874 CNV Loss 21882294
nsv466576 CNV Loss 19166990
dgv8289n71 CNV Gain 21882294
dgv8290n71 CNV Loss 21882294
dgv8291n71 CNV Loss 21882294
nsv893880 CNV Loss 21882294
dgv8292n71 CNV Loss 21882294
nsv893882 CNV Loss 21882294

Variation tolerance for ENG Gene

Residual Variation Intolerance Score: 27.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.62; 56.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ENG Gene

HapMap Linkage Disequilibrium report
ENG
Human Gene Mutation Database (HGMD)
ENG

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ENG Gene

Disorders for ENG Gene

MalaCards: The human disease database

(35) MalaCards diseases for ENG Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
telangiectasia, hereditary hemorrhagic, type 1
  • hereditary hemorrhagic telangiectasia
hereditary hemorrhagic telangiectasia
  • osler hemorrhagic telangiectasia syndrome
telangiectasia, hereditary hemorrhagic, type 4
  • hereditary hemorrhagic telangiectasia type 4
telangiectasia, hereditary hemorrhagic, type 2
  • hereditary hemorrhagic telangiectasia type 2
telangiectasia, hereditary hemorrhagic, type 5
  • telangiectasia, hereditary hemorrhagic, 5
- elite association - COSMIC cancer census association via MalaCards
Search ENG in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EGLN_HUMAN
  • 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. {ECO:0000269 PubMed:10545596, ECO:0000269 PubMed:10625079, ECO:0000269 PubMed:10982033, ECO:0000269 PubMed:15024723, ECO:0000269 PubMed:15712270, ECO:0000269 PubMed:16525724, ECO:0000269 PubMed:16752392, ECO:0000269 PubMed:20414677, ECO:0000269 PubMed:9157574, ECO:0000269 PubMed:9245986, ECO:0000269 PubMed:9554745}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ENG

Genetic Association Database (GAD)
ENG
Human Genome Epidemiology (HuGE) Navigator
ENG
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ENG
genes like me logo Genes that share disorders with ENG: view

No data available for Genatlas for ENG Gene

Publications for ENG Gene

  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. (PMID: 16752392) Bossler A.D. … Ganguly A. (Hum. Mutat. 2006) 3 4 48 67
  2. Vascular endothelial growth factor and endoglin expression in colorectal cancer. (PMID: 19890661) Dassoulas K. … Karakitsos P. (J. Cancer Res. Clin. Oncol. 2010) 3 23
  3. Prechemotherapy serum levels of CD105, transforming growth factor beta2, and vascular endothelial growth factor are associated with prognosis in patients with advanced epithelial ovarian cancer treated with cytoreductive surgery and platinum-based chemotherapy. (PMID: 20134268) Bozas G. … Bamias A. (Int. J. Gynecol. Cancer 2010) 3 23
  4. Allelic variations in angiogenic pathway genes are associated with preeclampsia. (PMID: 20223440) Srinivas S.K. … Elovitz M.A. (Am. J. Obstet. Gynecol. 2010) 3 23
  5. Endoglin (CD105) as a urinary and serum marker of prostate cancer. (PMID: 19004009) Fujita K. … Pavlovich C.P. (Int. J. Cancer 2009) 3 23

Products for ENG Gene

Sources for ENG Gene

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