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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 Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers and Wnt / Hedgehog / Notch. 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 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 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 , fRNAdb sequence ontologies and piRNA Summary for ENG Gene

Genomics for ENG Gene

GeneHancer (GH) Regulatory Elements for ENG Gene

Promoters and enhancers for ENG Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J127844 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +4.0 3985 12.8 SMAD1 ATF1 FOXA2 ARID4B YY1 ZNF280A ZNF121 CBX5 GATA2 ZNF143 ENG CIZ1 GOLGA2 ZNF79 FAM102A CERCAM RNA5SP296
GH09J127761 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21.5 +87.9 87939 11.3 HDGF PKNOX1 ATF1 ARNT ARID4B SIN3A ZBTB7B YY1 TCF12 ZNF121 SH2D3C FAM129B FPGS ENG CDK9 LOC102723566 SNORA65 ZBTB34 AK1 ST6GALNAC6
GH09J127553 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12 +289.8 289826 23.7 HDGF PKNOX1 FOXA2 MLX ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B YY1 FAM129B FPGS LOC102723566 ZNF79 ENG GLE1 SNORA65 RPL12 TOR2A SLC2A8
GH09J127800 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.9 +52.1 52084 4.5 HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 FPGS ENG SLC2A8 LOC102723566 ENSG00000227218 URM1 FAM129B CDK9 TOR2A SH2D3C
GH09J127826 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 13.7 +26.6 26566 3.7 HDGF ATF1 ARID4B SIN3A ZNF48 SLC30A9 TCF12 ZNF121 POLR2B ZFP91 FPGS CDK9 ENG FAM129B AK1 ST6GALNAC6 CIZ1 ST6GALNAC4 PIP5KL1 ODF2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ENG on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ENG gene promoter:

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)

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 Asn307, Asn134, isoforms=2121, isoforms=2102, and Asn88
  • Modification sites at PhosphoSitePlus

Other Protein References for ENG Gene

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:

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

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
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: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

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 89
Contraceptive Agents Pharma 2087
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

mRNA/cDNA for ENG Gene

Unigene Clusters for ENG Gene

Endoglin:
Representative Sequences:

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:
  • 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

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 33
  • 98.28 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ENG 34 33
  • 81.9 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ENG 34 33
  • 80 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Eng 16 34 33
  • 79.16 (n)
rat
(Rattus norvegicus)
Mammalia Eng 33
  • 78.94 (n)
oppossum
(Monodelphis domestica)
Mammalia ENG 34
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves ENG 34 33
  • 52.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ENG 34
  • 27 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eng 33
  • 43.27 (n)
zebrafish
(Danio rerio)
Actinopterygii CABZ01064405.1 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ENG: view image

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 Variation AA Info Type
rs1060501408 pathogenic, Osler hemorrhagic telangiectasia syndrome 127,854,482(-) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant
rs1060501409 uncertain-significance, Osler hemorrhagic telangiectasia syndrome 127,816,015(-) C/T coding_sequence_variant, missense_variant
rs1060501410 pathogenic, Osler hemorrhagic telangiectasia syndrome, not specified 127,824,800(-) C/T coding_sequence_variant, missense_variant
rs1060501411 uncertain-significance, Osler hemorrhagic telangiectasia syndrome 127,825,325(-) C/T coding_sequence_variant, missense_variant
rs1060501412 pathogenic, Osler hemorrhagic telangiectasia syndrome 127,818,720(-) ACAAAGCTCT/ coding_sequence_variant, frameshift

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)

Additional Variant Information for ENG Gene

Human Gene Mutation Database (HGMD)
ENG
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ENG

SNP Genotyping and Copy Number Assay Products

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

Disorders for ENG Gene

MalaCards: The human disease database

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

- 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:7894484, 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.

Additional Disease Information for ENG

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 SK … Elovitz MA (American journal of obstetrics and gynecology 2010) 3 22 44 58
  2. The interaction of endoglin with beta-arrestin2 regulates transforming growth factor-beta-mediated ERK activation and migration in endothelial cells. (PMID: 17540773) Lee NY … Blobe GC (The Journal of biological chemistry 2007) 3 4 22 58
  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 AD … Ganguly A (Human mutation 2006) 3 4 44 58
  4. Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. (PMID: 12920067) Berg J … Guttmacher A (Journal of medical genetics 2003) 3 22 44 58
  5. Endoglin is not a major susceptibility gene for intracranial aneurysm among Japanese. (PMID: 12775886) Onda H … Inoue I (Stroke 2003) 3 22 44 58

Products for ENG Gene