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ENG endoglin [ Homo sapiens (human) ]

Gene ID: 2022, updated on 10-Dec-2024

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
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Genomic context

See ENG in Genome Data Viewer
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_000009.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 7866 Neighboring gene Sharpr-MPRA regulatory region 2041 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29053 Neighboring gene cyclin dependent kinase 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20313 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130571111-130571753 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130571754-130572397 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130572398-130573040 Neighboring gene uncharacterized LOC102723566 Neighboring gene folylpolyglutamate synthase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130588231-130588831 Neighboring gene uncharacterized LOC105379841 Neighboring gene uncharacterized LOC124902278 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130597192-130598163 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130598164-130599134 Neighboring gene ST6GALNAC4-ST6GALNAC6-AK1 readthrough Neighboring gene RNA, 5S ribosomal pseudogene 296 Neighboring gene uncharacterized LOC124902279 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130616269-130617185 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130618546-130619046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130619047-130619547 Neighboring gene CRISPRi-validated cis-regulatory element chr9.2869 Neighboring gene Sharpr-MPRA regulatory region 4407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29056 Neighboring gene Sharpr-MPRA regulatory region 6524 Neighboring gene microRNA 4672 Neighboring gene adenylate kinase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130645163-130645663 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130646401-130647398 Neighboring gene ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130658469-130659290 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20314 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130660112-130660932 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130660933-130661753 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29057 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130667147-130667673 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130667812-130668411

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

Related articles in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

HIV-1 interactions

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

Pathways from PubChem

Interactions

General gene information

Clone Names

  • FLJ41744

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to BMP binding PubMed 
enables activin binding PubMed 
enables coreceptor activity PubMed 
enables coreceptor activity PubMed 
enables galactose binding PubMed 
enables glycosaminoglycan binding PubMed 
enables glycosaminoglycan binding PubMed 
enables identical protein binding PubMed 
enables protein binding PubMed 
enables protein homodimerization activity  
enables protein homodimerization activity PubMed 
enables signaling receptor activator activity PubMed 
contributes_to transforming growth factor beta binding PubMed 
enables transforming growth factor beta binding PubMed 
enables transmembrane signaling receptor activity PubMed 
enables type I transforming growth factor beta receptor binding PubMed 
enables type I transforming growth factor beta receptor binding PubMed 
enables type II transforming growth factor beta receptor binding PubMed 
enables type II transforming growth factor beta receptor binding PubMed 
Items 1 - 25 of 62
Process Evidence Code Pubs
involved_in BMP signaling pathway PubMed 
involved_in artery morphogenesis PubMed 
involved_in atrial cardiac muscle tissue morphogenesis  
involved_in atrioventricular canal morphogenesis  
involved_in bone development  
involved_in branching involved in blood vessel morphogenesis PubMed 
involved_in cardiac atrium morphogenesis  
involved_in cardiac ventricle morphogenesis  
involved_in cell adhesion  
involved_in cell chemotaxis PubMed 
involved_in cell migration PubMed 
involved_in cell migration involved in endocardial cushion formation  
involved_in cell motility PubMed 
involved_in cellular response to mechanical stimulus  
involved_in central nervous system vasculogenesis PubMed 
involved_in detection of hypoxia PubMed 
involved_in dorsal aorta morphogenesis  
involved_in endocardial cushion morphogenesis  
NOT involved_in endocardial cushion to mesenchymal transition  
involved_in epithelial to mesenchymal transition involved in endocardial cushion formation  
involved_in extracellular matrix constituent secretion  
involved_in extracellular matrix disassembly PubMed 
involved_in heart looping PubMed 
involved_in negative regulation of SMAD protein signal transduction PubMed 
involved_in negative regulation of cell migration PubMed 
involved_in negative regulation of endothelial cell proliferation PubMed 
involved_in negative regulation of gene expression  
involved_in negative regulation of transcription by RNA polymerase II PubMed 
involved_in negative regulation of transforming growth factor beta receptor signaling pathway PubMed 
involved_in outflow tract septum morphogenesis  
involved_in positive regulation of BMP signaling pathway PubMed 
involved_in positive regulation of SMAD protein signal transduction PubMed 
involved_in positive regulation of SMAD protein signal transduction PubMed 
involved_in positive regulation of angiogenesis  
involved_in positive regulation of collagen biosynthetic process  
involved_in positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation  
involved_in positive regulation of gene expression  
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction PubMed 
involved_in positive regulation of systemic arterial blood pressure PubMed 
involved_in positive regulation of transcription by RNA polymerase II PubMed 
involved_in positive regulation of transcription by RNA polymerase II  
involved_in positive regulation of vascular associated smooth muscle cell differentiation  
involved_in regulation of DNA-templated transcription PubMed 
NOT involved_in regulation of cardiac muscle cell apoptotic process  
NOT involved_in regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis  
involved_in regulation of cell adhesion PubMed 
involved_in regulation of cell population proliferation PubMed 
NOT involved_in regulation of cell proliferation involved in heart morphogenesis  
involved_in regulation of phosphorylation PubMed 
involved_in regulation of transforming growth factor beta receptor signaling pathway PubMed 
involved_in response to hypoxia PubMed 
involved_in response to xenobiotic stimulus  
involved_in smooth muscle tissue development PubMed 
NOT involved_in sprouting angiogenesis  
NOT involved_in transforming growth factor beta receptor signaling pathway PubMed 
involved_in transforming growth factor beta receptor signaling pathway PubMed 
involved_in vascular associated smooth muscle cell development  
involved_in vasculogenesis  
involved_in vasculogenesis PubMed 
involved_in venous blood vessel morphogenesis PubMed 
involved_in ventricular trabecula myocardium morphogenesis  
involved_in wound healing PubMed 
Items 1 - 25 of 62
Component Evidence Code Pubs
is_active_in cell surface  
located_in cell surface PubMed 
located_in endothelial microparticle  
located_in external side of plasma membrane PubMed 
is_active_in extracellular space  
located_in extracellular space PubMed 
located_in focal adhesion PubMed 
located_in nuclear body  
located_in plasma membrane  
part_of receptor complex PubMed 

General protein information

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

  1. NG_009551.1 RefSeqGene

    Range
    4996..44757
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_589

mRNA and Protein(s)

  1. NM_000118.4NP_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
  2. NM_001114753.3NP_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
  3. NM_001278138.2NP_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
  4. NM_001406715.1NP_001393644.1  endoglin isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AL157935, AL162586
    Related
    ENSP00000519286.1, ENST00000713996.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    127815016..127854658 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    140022435..140062072 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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