ENG endoglin [Homo sapiens (human)] - Gene

Summary

Official Symbol: ENGprovided by HGNC
Official Full Name: endoglinprovided by HGNC
Primary source: HGNC:HGNC:3349
See related: Ensembl:ENSG00000106991 MIM:131195; AllianceGenome:HGNC:3349
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: END; HHT1; ORW1
Summary: 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]
Expression: Broad expression in spleen (RPKM 69.2), lung (RPKM 66.7) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.11

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (127815016..127854658, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (140022435..140062072, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (130577295..130616937, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expression of CD105 but not of E-cadherin is associated with malignancy recurrence and disease-free interval in laryngeal cancer in men.
Title: Expression of CD105 but not of E-cadherin is associated with malignancy recurrence and disease-free interval in laryngeal cancer in men.
Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families.
Title: Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families.
Soluble Endoglin and Syndecan-1 levels predicts the clinical outcome in COVID-19 patients.
Title: Soluble Endoglin and Syndecan-1 levels predicts the clinical outcome in COVID-19 patients.
Endoglin mutants retained in the endoplasmic reticulum exacerbate loss of function in hereditary hemorrhagic telangiectasia type 1 (HHT1) by exerting dominant negative effects on the wild type allele.
Title: Endoglin mutants retained in the endoplasmic reticulum exacerbate loss of function in hereditary hemorrhagic telangiectasia type 1 (HHT1) by exerting dominant negative effects on the wild type allele.
A novel frameshift mutation of the endoglin(ENG) gene causes hereditary hemorrhagic telangiectasia in a Chinese family.
Title: A novel frameshift mutation of the endoglin(ENG) gene causes hereditary hemorrhagic telangiectasia in a Chinese family.
Endoglin, a Novel Biomarker and Therapeutical Target to Prevent Malignant Peripheral Nerve Sheath Tumor Growth and Metastasis.
Title: Endoglin, a Novel Biomarker and Therapeutical Target to Prevent Malignant Peripheral Nerve Sheath Tumor Growth and Metastasis.
SERUM SOLUBLE ENDOGLIN IN PEDIATRIC SEPTIC SHOCK-ASSOCIATED MULTIPLE ORGAN DYSFUNCTION SYNDROME.
Title: SERUM SOLUBLE ENDOGLIN IN PEDIATRIC SEPTIC SHOCK-ASSOCIATED MULTIPLE ORGAN DYSFUNCTION SYNDROME.
Novel vascular roles of human endoglin in pathophysiology.
Title: Novel vascular roles of human endoglin in pathophysiology.
Soluble endoglin reduces thrombus formation and platelet aggregation via interaction with alphaIIbbeta3 integrin.
Title: Soluble endoglin reduces thrombus formation and platelet aggregation via interaction with αIIbβ3 integrin.
Tumoral CD105 promotes immunosuppression, metastasis, and angiogenesis in renal cell carcinoma.
Title: Tumoral CD105 promotes immunosuppression, metastasis, and angiogenesis in renal cell carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (461)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Telangiectasia, hereditary hemorrhagic, type 1 MedGen: C4551861 OMIM: 187300 GeneReviews: Hereditary Hemorrhagic Telangiectasia	not available

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2024-01-11) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2024-01-11) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
A genome-wide association study of the metabolic syndrome in Indian Asian men. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 upregulates the expression of endoglin (ENG) in human B cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH68386 (e-PCR)
- UniSTS:49924

STS-AA035463 (e-PCR)
- UniSTS:78091

RH80829 (e-PCR)
- UniSTS:85121

RH79931 (e-PCR)
- UniSTS:84100

SHGC-30551 (e-PCR)
- UniSTS:51332

SHGC-110028 (e-PCR)
- UniSTS:170163

GDB:553289 (e-PCR)
- UniSTS:157642

GDB:553293 (e-PCR)
- UniSTS:157643

GDB:553296 (e-PCR)
- UniSTS:157644

GDB:553300 (e-PCR)
- UniSTS:157645

GDB:553303 (e-PCR)
- UniSTS:157646

GDB:553311 (e-PCR)
- UniSTS:157648

GDB:553315 (e-PCR)
- UniSTS:157649

GDB:553319 (e-PCR)
- UniSTS:157650

GDB:553324 (e-PCR)
- UniSTS:157651

GDB:553329 (e-PCR)
- UniSTS:157652

ENG_443 (e-PCR)
- UniSTS:277205

RH70059 (e-PCR)
- UniSTS:16102

STS-J05481 (e-PCR)
- UniSTS:48367

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to BMP binding	IPI Inferred from Physical Interaction more info	PubMed
enables activin binding	TAS Traceable Author Statement more info	PubMed
enables coreceptor activity	IDA Inferred from Direct Assay more info	PubMed
enables coreceptor activity	IPI Inferred from Physical Interaction more info	PubMed
enables galactose binding	IDA Inferred from Direct Assay more info	PubMed
enables glycosaminoglycan binding	IDA Inferred from Direct Assay more info	PubMed
enables glycosaminoglycan binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor activator activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to transforming growth factor beta binding	IPI Inferred from Physical Interaction more info	PubMed
enables transforming growth factor beta binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane signaling receptor activity	NAS Non-traceable Author Statement more info	PubMed
enables type I transforming growth factor beta receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables type I transforming growth factor beta receptor binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables type II transforming growth factor beta receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables type II transforming growth factor beta receptor binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in artery morphogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in atrial cardiac muscle tissue morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in atrioventricular canal morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in bone development	IEA Inferred from Electronic Annotation more info
involved_in branching involved in blood vessel morphogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in cardiac atrium morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac ventricle morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell chemotaxis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell migration involved in endocardial cushion formation	IEA Inferred from Electronic Annotation more info
involved_in cell motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to mechanical stimulus	IEA Inferred from Electronic Annotation more info
involved_in central nervous system vasculogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in detection of hypoxia	IDA Inferred from Direct Assay more info	PubMed
involved_in dorsal aorta morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in endocardial cushion morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
NOT involved_in endocardial cushion to mesenchymal transition	ISS Inferred from Sequence or Structural Similarity more info
involved_in epithelial to mesenchymal transition involved in endocardial cushion formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in extracellular matrix constituent secretion	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix disassembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart looping	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of SMAD protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of endothelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transforming growth factor beta receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in outflow tract septum morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of SMAD protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of SMAD protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of collagen biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of systemic arterial blood pressure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of vascular associated smooth muscle cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in regulation of cardiac muscle cell apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
NOT involved_in regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell adhesion	TAS Traceable Author Statement more info	PubMed
involved_in regulation of cell population proliferation	TAS Traceable Author Statement more info	PubMed
NOT involved_in regulation of cell proliferation involved in heart morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of phosphorylation	TAS Traceable Author Statement more info	PubMed
involved_in regulation of transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in smooth muscle tissue development	ISS Inferred from Sequence or Structural Similarity more info	PubMed
NOT involved_in sprouting angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
NOT involved_in transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in vascular associated smooth muscle cell development	ISS Inferred from Sequence or Structural Similarity more info
involved_in vasculogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in vasculogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in venous blood vessel morphogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in ventricular trabecula myocardium morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in wound healing	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in endothelial microparticle	IEA Inferred from Electronic Annotation more info
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
part_of receptor complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: endoglin

Names: CD105 antigen; soluble endoglin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009551.1 RefSeqGene

Range

4996..44757

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_589

mRNA and Protein(s)

NM_000118.4 → NP_000109.1 endoglin isoform 2 precursor

See identical proteins and their annotated locations for NP_000109.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an additional segment in the 3' coding region which includes an earlier stop codon, compared to variant 1. The resulting isoform (2, also known as S-endoglin) has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AL157935, AL162586

Consensus CDS

CCDS6880.1

UniProtKB/TrEMBL

A0AAQ5BHC0, Q5T9B9

Related

ENSP00000341917.3, ENST00000344849.5
NM_001114753.3 → NP_001108225.1 endoglin isoform 1 precursor

See identical proteins and their annotated locations for NP_001108225.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1, also known as L-endoglin).

Source sequence(s)

BC014271, DB079257, X72012

Consensus CDS

CCDS48029.1

UniProtKB/Swiss-Prot

P17813, Q14248, Q14926, Q5T9C0

UniProtKB/TrEMBL

A8K2X4, Q96CG0

Related

ENSP00000362299.4, ENST00000373203.9
NM_001278138.2 → NP_001265067.1 endoglin isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains a distinct 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AK301171, BC014271

Consensus CDS

CCDS75906.1

UniProtKB/TrEMBL

B7Z6Y5, F5GX88

Related

ENSP00000479015.1, ENST00000480266.7
NM_001406715.1 → NP_001393644.1 endoglin isoform 4 precursor

Status: REVIEWED

Source sequence(s)

AL157935, AL162586

Related

ENSP00000519286.1, ENST00000713996.1