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 aut... See more...

Aliases for ENG Gene

Aliases for ENG Gene

  • Endoglin 2 3 4 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 TGF-beta Signaling Pathways and HIF-1-alpha transcription factor network. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and glycosaminoglycan binding. An important paralog of this gene is TGFBR3.

UniProtKB/Swiss-Prot Summary for ENG Gene

  • Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis (PubMed:21737454, PubMed:23300529). Required for normal structure and integrity of adult vasculature (PubMed:7894484). Regulates the migration of vascular endothelial cells (PubMed:17540773). Required for normal extraembryonic angiogenesis and for embryonic heart development (By similarity). May regulate endothelial cell shape changes in response to blood flow, which drive vascular remodeling and establishment of normal vascular morphology during angiogenesis (By similarity). May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors (PubMed:1692830). Acts as TGF-beta coreceptor and is involved in the TGF-beta/BMP signaling cascade that ultimately leads to the activation of SMAD transcription factors (PubMed:8370410, PubMed:21737454, PubMed:22347366, PubMed:23300529). Required for GDF2/BMP9 signaling through SMAD1 in endothelial cells and modulates TGFB1 signaling through SMAD3 (PubMed:21737454, PubMed:22347366, PubMed:23300529).

Gene Wiki entry for ENG Gene

Additional gene information for ENG Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ENG Gene

Genomics for ENG Gene

GeneHancer (GH) Regulatory Elements for ENG Gene

Promoters and enhancers for ENG Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ENG on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ENG gene promoter:
  • AP-1
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4

Genomic Locations for ENG Gene

Genomic Locations for ENG Gene
chr9:127,815,012-127,854,773
(GRCh38/hg38)
Size:
39,762 bases
Orientation:
Minus strand
chr9:130,577,291-130,617,047
(GRCh37/hg19)
Size:
39,757 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; disulfide-linked (PubMed:8370410, PubMed:1326540, PubMed:21737454, PubMed:22347366, PubMed:28564608). Forms a heteromeric complex with the signaling receptors for transforming growth factor-beta: TGFBR1 and/or TGFBR2 (PubMed:1326540). It is able to bind TGFB1 and TGFB2 with high affinity, but not TGFB3 (PubMed:8370410, PubMed:1326540). Interacts with GDF2, forming a heterotetramer with a 2:2 stoichiometry (PubMed:21737454, PubMed:22347366, PubMed:28564608). Interacts with ACVRL1 (PubMed:22347366, PubMed:28564608). Can form a heteromeric complex with GDF2 and ACVRL1 (PubMed:28564608). Interacts with BMP10 (PubMed:21737454). Interacts with TCTEX1D4 (PubMed:16982625). Interacts with ARRB2 (PubMed:17540773).

    Three dimensional structures from OCA and Proteopedia for ENG Gene

    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, Asn134, and Asn307
  • Modification sites at PhosphoSitePlus

Other Protein References for ENG Gene

Antibody Products

  • Abcam antibodies for ENG

No data available for DME Specific Peptides for ENG Gene

Domains & Families for ENG Gene

Gene Families for ENG Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • CD markers
  • Disease related genes
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for ENG Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ENG Gene

GenScript: Design optimal peptide antigens:
  • Endoglin (EGLN_HUMAN)
  • Endoglin (Osler-Rendu-Weber syndrome 1), isoform CRA_b (Q5T9B9_HUMAN)
  • Endoglin (Q71V36_HUMAN)
  • Endoglin (Osler-Rendu-Weber syndrome 1) (Q96CG0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P17813

UniProtKB/Swiss-Prot:

EGLN_HUMAN :
  • The ZP domain mediates dimerization.
Domain:
  • The ZP domain mediates dimerization.
  • The N-terminal OR region is composed of two intertwined domains (OR1 and OR2) with a common, novel fold. Each contains 12 beta-strands that form a parallel beta-helix-like structure, plus a single alpha-helix. The OR1 region mediates interaction with GDF2.
genes like me logo Genes that share domains with ENG: view

Function for ENG Gene

Molecular function for ENG Gene

UniProtKB/Swiss-Prot Function:
Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis (PubMed:21737454, PubMed:23300529). Required for normal structure and integrity of adult vasculature (PubMed:7894484). Regulates the migration of vascular endothelial cells (PubMed:17540773). Required for normal extraembryonic angiogenesis and for embryonic heart development (By similarity). May regulate endothelial cell shape changes in response to blood flow, which drive vascular remodeling and establishment of normal vascular morphology during angiogenesis (By similarity). May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors (PubMed:1692830). Acts as TGF-beta coreceptor and is involved in the TGF-beta/BMP signaling cascade that ultimately leads to the activation of SMAD transcription factors (PubMed:8370410, PubMed:21737454, PubMed:22347366, PubMed:23300529). Required for GDF2/BMP9 signaling through SMAD1 in endothelial cells and modulates TGFB1 signaling through SMAD3 (PubMed:21737454, PubMed:22347366, PubMed:23300529).
GENATLAS Biochemistry:
endoglin,68kDa,TGF beta binding glycoprotein of endothelial cells,homodimeric component of the TGFBR1 complex,proliferation associated antigen,marker of breast carcinoma

Phenotypes From GWAS Catalog for ENG Gene

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:
  • Eng Eng<tm1Mle>
  • Eng Eng<tm1Hma>
  • Eng Eng<tm2.2Hma>
  • Eng Eng<tm1Dyl>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ENG

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

Cell 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
cytoskeleton 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ENG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 19004009
GO:0005886 plasma membrane IEA --
GO:0005925 focal adhesion HDA 21423176
GO:0009897 external side of plasma membrane IDA 1537377
GO:0009986 cell surface IEA --
genes like me logo Genes that share ontologies with ENG: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ENG Gene

Pathways & Interactions for ENG Gene

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

SIGNOR curated interactions for ENG Gene

Is activated by:

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

Drugs & Compounds for ENG Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Etonogestrel Approved, Investigational Pharma 95
Carotuximab Investigational Pharma Target 0
Contraceptive Agents Pharma 2374
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ENG

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, 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: Detected on umbilical veil endothelial cells (PubMed:10625079). Detected in placenta (at protein level) (PubMed:1692830). Detected on endothelial cells (PubMed:1692830).

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(3)
  • 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
Regions:
Head and neck: