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Aliases for ENG Gene

Aliases for ENG Gene

  • Endoglin 2 3
  • END 3 4 6
  • CD105 Antigen 3 4
  • HHT1 3 6
  • Osler-Rendu-Weber Syndrome 1 2
  • ORW1 3
  • ORW 6

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 Angiogenesis (CST) and HIF-1-alpha transcription factor network. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ENG Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Asn88, Asn102, Asn121, Asn134, and Asn307
  • Modification sites at PhosphoSitePlus

Other Protein References for ENG Gene

Antibody Products

Protein Products

No data available for DME Specific Peptides for ENG Gene

Domains for ENG Gene

Gene Families for ENG Gene

HGNC:
  • CD :CD molecules

Protein Domains for ENG Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ENG Gene

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:0004888 transmembrane signaling receptor activity NAS 18974388
GO:0005024 transforming growth factor beta-activated receptor activity IDA 18223685
GO:0005072 transforming growth factor beta receptor, cytoplasmic mediator activity IDA 12015308
GO:0005114 type II transforming growth factor beta receptor binding ISS 8294451
GO:0005515 protein binding IPI 15702480
genes like me logo Genes that share ontologies with ENG: view
genes like me logo Genes that share phenotypes with ENG: view

Animal Models for ENG Gene

MGI Knock Outs for ENG:

Animal Model Products

miRNA for ENG Gene

miRTarBase miRNAs that target ENG

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
cytosol 4
extracellular 4
nucleus 4
plasma membrane 4
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ENG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 19004009
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005925 focal adhesion IDA 21423176
genes like me logo Genes that share ontologies with ENG: view

Pathways for ENG Gene

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

Pathways by source for ENG Gene

1 Sino Biological pathway for ENG Gene
2 Cell Signaling Technology pathways for ENG Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for ENG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 18974388
GO:0001300 chronological cell aging IEP 18974388
GO:0001525 angiogenesis --
GO:0001569 patterning of blood vessels ISS 8194490
GO:0001570 vasculogenesis IMP 7894484
genes like me logo Genes that share ontologies with ENG: view

Compounds for ENG Gene

(24) Novoseek inferred chemical compound relationships for ENG Gene

Compound -log(P) Hits PubMed IDs
vegf 73.4 144
tgf beta1 63.8 22
matrigel 48.7 5
tyrosine 47.6 76
threonine 13.9 5
genes like me logo Genes that share compounds with ENG: view

Transcripts for ENG Gene

Unigene Clusters for ENG Gene

Endoglin:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ENG

Primer Products

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

Flow Cytometry Products

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 (5.3).

Integrated Proteomics: protein expression 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 expressions with ENG: view

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 35
  • 98.28 (n)
  • 98.53 (a)
ENG 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ENG 35
  • 80 (n)
  • 70.39 (a)
ENG 36
  • 66 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ENG 35
  • 81.9 (n)
  • 74.85 (a)
ENG 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eng 35
  • 79.16 (n)
  • 72.5 (a)
Eng 16
Eng 36
  • 71 (a)
OneToOne
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 MAF
rs12042 -- 127,824,907(-) AGACA(C/G)ACCTC reference, missense
rs1800956 Benign, - 127,824,342(+) GGCGT(C/G)GTCGG missense, reference
rs1998923 -- 127,849,626(-) AGCAG(C/T)CCCAT intron-variant
rs2005129 -- 127,837,679(+) AATCA(C/T)CAAAT intron-variant
rs2031695 -- 127,842,587(-) ATTAG(C/T)TGGGC intron-variant

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

Relevant External Links for ENG Gene

HapMap Linkage Disequilibrium report
ENG
Human Gene Mutation Database (HGMD)
ENG
Locus Specific Mutation Databases (LSDB)
ENG

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

Disorders for ENG Gene

(1) OMIM Diseases for ENG Gene (131195)

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.

(2) University of Copenhagen DISEASES for ENG Gene

(85) Novoseek inferred disease relationships for ENG Gene

Disease -log(P) Hits PubMed IDs
telangiectasia hereditary hemorrhagic 93.8 69
telangiectasia 86.5 34
arteriovenous malformations 78.6 21
preeclampsia 78.4 93
vascular diseases 57 17

Relevant External Links for ENG

GeneTests
ENG
GeneReviews
ENG
Genetic Association Database (GAD)
ENG
Human Genome Epidemiology (HuGE) Navigator
ENG
genes like me logo Genes that share disorders with ENG: view

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 23 48
  2. Association of a polymorphism of the ACVRL1 gene with sporadic arteriovenous malformations of the central nervous system. (PMID: 16776339) Simon M. … Schramm J. (J. Neurosurg. 2006) 3 23 48
  3. Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients. (PMID: 16705692) Lesca G. … Giraud S. (Hum. Mutat. 2006) 3 23 48
  4. Identification of Tctex2beta, a novel dynein light chain family member that interacts with different transforming growth factor-beta receptors. (PMID: 16982625) Meng Q.-J. … Garland J.M. (J. Biol. Chem. 2006) 3 4 23
  5. A DNA sequence polymorphism in the endoglin gene is not associated with intracranial aneurysm or aneurysmal subarachnoid hemorrhage. (PMID: 15976502) Peters D.G. … Chang Y.F. (Cerebrovasc. Dis. 2005) 3 23 48

Products for ENG Gene

Sources for ENG Gene

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