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Aliases for ENG Gene

Aliases for ENG Gene

  • Endoglin 2 3 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 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENG Gene

Genomics for ENG Gene

Regulatory Elements for ENG Gene

Enhancers for ENG Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G127761 1.9 FANTOM5 Ensembl ENCODE dbSUPER 21.4 +87.9 87940 11.3 HDGF PKNOX1 MLX ARNT SIN3A ARID4B DMAP1 ZBTB7B YY1 ZNF143 FPGS ENG SH2D3C LOC102723566 AK1 ST6GALNAC6 ST6GALNAC4 PIP5KL1 FAM129B SWI5
GH09G127826 2 FANTOM5 Ensembl ENCODE dbSUPER 13.7 +26.6 26566 3.7 HDGF CREB3L1 AGO1 ARID4B YY1 SLC30A9 REST ZNF592 KAT8 MEF2D FPGS ENG FAM129B AK1 ST6GALNAC6 ST6GALNAC4 PIP5KL1 CDK9 ENSG00000227218 TOR2A
GH09G127800 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.9 +52.1 52085 4.5 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 ENG CDK9 SLC2A8 PTRH1 FPGS LOC101929270 LOC102723566 ENSG00000227218 URM1 FAM129B
GH09G127553 2 FANTOM5 Ensembl ENCODE dbSUPER 12 +289.8 289826 23.7 MLX CREB3L1 DMAP1 FEZF1 YY1 ZNF263 SP3 RCOR2 GLIS1 KDM1A FAM129B CDK9 ENG PTRH1 SNORA65 LOC101929270 FPGS RPL12 TOR2A LOC102723566
GH09G127824 1.4 Ensembl ENCODE dbSUPER 13.7 +29.3 29347 1.5 PKNOX1 ATF1 AGO1 ZFP64 ARID4B DMAP1 ZNF48 SP5 MXD4 REST ENG FPGS AK1 ST6GALNAC6 ST6GALNAC4 PIP5KL1 ENSG00000222421 LOC102723566
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ENG on UCSC Golden Path with GeneCards custom track

Promoters for ENG Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000241761 1173 2401 BCOR CTCF MXI1 USF1 MAX ZMYM3 RAD21 POLR2A ZNF143 HNF4G

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

Post-translational modifications for ENG Gene

  • Glycosylation at Asn88, Asn102, Asn121, isoforms=2134, and Asn307
  • Modification sites at PhosphoSitePlus

Other Protein References for ENG Gene

Antibody Products

Assay Products

  • Cloud-Clone Corp Assay Kits for ENG

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:0004888 transmembrane signaling receptor activity NAS 18974388
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 9872992
GO:0005534 galactose binding IDA 3262645
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

Inhibitory RNA Products

Clone Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ENG gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 3
cytosol 3
cytoskeleton 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ENG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 19004009
GO:0005925 focal adhesion IDA 21423176
GO:0009897 external side of plasma membrane IDA 1537377
GO:0009986 cell surface IEA --
GO:0016020 membrane IEA --
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 IEA --
GO:0001525 angiogenesis IEA --
GO:0001569 branching involved in blood vessel morphogenesis ISS 8194490
GO:0001570 vasculogenesis IMP 7894484
GO:0001934 positive regulation of protein phosphorylation IDA 12015308
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

(16) Drugs for ENG Gene - From: ClinicalTrials, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Etonogestrel Approved, Investigational Pharma 81
Contraceptive Agents Pharma 1967
TRC105 Pharma inhibitor 0

(11) 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:

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ENG Gene



Protein tissue co-expression partners for ENG Gene

NURSA nuclear receptor signaling pathways regulating expression of ENG Gene:

ENG

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.

Evidence on tissue expression from TISSUES for ENG Gene

  • Nervous system(4.8)
  • Lung(4.7)
  • Kidney(4.6)
  • Liver(4.6)
  • Spleen(4.6)
  • Skin(4.4)
  • Heart(4.2)
  • Intestine(3.7)
  • Muscle(3.3)
  • Bone marrow(3.2)
  • Eye(2.9)
  • Pancreas(2.9)
  • Blood(2.8)
  • Bone(2.8)
  • Lymph node(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ENG Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • lip
  • mouth
  • nose
  • salivary gland
  • tongue
Thorax:
  • breast
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with ENG: view

Primer 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 34 35
  • 98.28 (n)
dog
(Canis familiaris)
Mammalia ENG 34 35
  • 81.9 (n)
cow
(Bos Taurus)
Mammalia ENG 34 35
  • 80 (n)
mouse
(Mus musculus)
Mammalia Eng 34 16 35
  • 79.16 (n)
rat
(Rattus norvegicus)
Mammalia Eng 34
  • 78.94 (n)
oppossum
(Monodelphis domestica)
Mammalia ENG 35
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves ENG 34 35
  • 52.22 (n)
lizard
(Anolis carolinensis)
Reptilia ENG 35
  • 27 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eng 34
  • 43.27 (n)
zebrafish
(Danio rerio)
Actinopterygii CABZ01064405.1 35
  • 16 (a)
ManyToMany
Species where no ortholog for ENG was found in the sources mined by GeneCards:
  • 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
rs116330805 other, Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] 127,818,296(+) TTCCA(C/T)GGTGC intron-variant, reference, missense
rs121918401 Pathogenic, Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] 127,819,934(-) CTGTG(A/G/T)CATGC intron-variant, reference, missense
rs148002300 Likely benign, Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] 127,815,951(+) TGTGC(A/C/G)AGTAG upstream-variant-2KB, reference, missense
rs763475207 Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] 127,818,337(+) TGTCT(A/G)ACTGG nc-transcript-variant, reference, missense
rs863223538 Pathogenic, Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] 127,818,220(-) CCCGC(A/G)CTTCA intron-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv12879n54 CNV loss 21841781
dgv12880n54 CNV loss 21841781
esv3621794 CNV loss 21293372
esv3891727 CNV gain 25118596
nsv466575 CNV loss 19166990
nsv466576 CNV loss 19166990
nsv471323 CNV loss 18288195
nsv615373 CNV loss 21841781
nsv615374 CNV loss 21841781
nsv615377 CNV loss 21841781
nsv615378 CNV loss 21841781

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

Human Gene Mutation Database (HGMD)
ENG
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
  • telangiectasia, hereditary hemorrhagic, 1
hereditary hemorrhagic telangiectasia
  • osler hemorrhagic telangiectasia syndrome
pulmonary hypertension
  • primary pulmonary hypertension
pulmonary hypertension, familial primary, 1, with or without hht
  • pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated
eng-related hereditary hemorrhagic telangiectasia
  • eng-related hht
- 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. Allelic variations in angiogenic pathway genes are associated with preeclampsia. (PMID: 20223440) Srinivas S.K. … Elovitz M.A. (Am. J. Obstet. Gynecol. 2010) 3 22 46 64
  2. The interaction of endoglin with beta-arrestin2 regulates transforming growth factor-beta-mediated ERK activation and migration in endothelial cells. (PMID: 17540773) Lee N.Y. … Blobe G.C. (J. Biol. Chem. 2007) 3 4 22 64
  3. 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 46 64
  4. Endoglin is not a major susceptibility gene for intracranial aneurysm among Japanese. (PMID: 12775886) Onda H. … Inoue I. (Stroke 2003) 3 22 46 64
  5. Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. (PMID: 12920067) Berg J. … Guttmacher A. (J. Med. Genet. 2003) 3 22 46 64

Products for ENG Gene

Sources for ENG Gene