Eng endoglin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Engprovided by MGI
Official Full Name: endoglinprovided by MGI
Primary source: MGI:MGI:95392
See related: Ensembl:ENSMUSG00000026814 AllianceGenome:MGI:95392
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Endo; CD105; S-endoglin
Summary: Enables protein homodimerization activity and transforming growth factor beta binding activity. Involved in several processes, including circulatory system development; positive regulation of cell differentiation; and regulation of gene expression. Acts upstream of or within circulatory system development and positive regulation of angiogenesis. Located in endothelial microparticle. Is expressed in several structures, including brain; cardiovascular system; extraembryonic vascular system; and lung. Used to study arteriovenous malformations of the brain and hereditary hemorrhagic telangiectasia. Human ortholog(s) of this gene implicated in arteriovenous malformation; arteriovenous malformations of the brain; breast cancer; hereditary hemorrhagic telangiectasia; and intracranial aneurysm. Orthologous to human ENG (endoglin). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in lung adult (RPKM 303.5), adrenal adult (RPKM 138.1) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 B; 2 22.09 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (32536607..32572681)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (32646595..32682669)

Chromosome 2 - NC_000068.8 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Endoglin and soluble endoglin in liver sinusoidal endothelial dysfunction in vivo.
Title: Endoglin and soluble endoglin in liver sinusoidal endothelial dysfunction in vivo.
NRP1 interacts with endoglin and VEGFR2 to modulate VEGF signaling and endothelial cell sprouting.
Title: NRP1 interacts with endoglin and VEGFR2 to modulate VEGF signaling and endothelial cell sprouting.
Tumoral CD105 promotes immunosuppression, metastasis, and angiogenesis in renal cell carcinoma.
Title: Tumoral CD105 promotes immunosuppression, metastasis, and angiogenesis in renal cell carcinoma.
Dynamic changes in endoglin expression in the developing mouse heart.
Title: Dynamic changes in endoglin expression in the developing mouse heart.
Arterial endoglin does not protect against arteriovenous malformations.
Title: Arterial endoglin does not protect against arteriovenous malformations.
Thresholds of Endoglin Expression in Endothelial Cells Explains Vascular Etiology in Hereditary Hemorrhagic Telangiectasia Type 1.
Title: Thresholds of Endoglin Expression in Endothelial Cells Explains Vascular Etiology in Hereditary Hemorrhagic Telangiectasia Type 1.
BMP Receptor Inhibition Enhances Tissue Repair in Endoglin Heterozygous Mice.
Title: BMP Receptor Inhibition Enhances Tissue Repair in Endoglin Heterozygous Mice.
Soluble Endoglin as a Potential Biomarker of Nonalcoholic Steatohepatitis (NASH) Development, Participating in Aggravation of NASH-Related Changes in Mouse Liver.
Title: Soluble Endoglin as a Potential Biomarker of Nonalcoholic Steatohepatitis (NASH) Development, Participating in Aggravation of NASH-Related Changes in Mouse Liver.
Continuous endoglin (CD105) overexpression disrupts angiogenesis and facilitates tumor cell metastasis.
Title: Continuous endoglin (CD105) overexpression disrupts angiogenesis and facilitates tumor cell metastasis.
S-endoglin expression is induced in hyperoxia and contributes to altered pulmonary angiogenesis in bronchopulmonary dysplasia development.
Title: S-endoglin expression is induced in hyperoxia and contributes to altered pulmonary angiogenesis in bronchopulmonary dysplasia development.

Submit: New GeneRIF Correction See all GeneRIFs (104)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1) 1 citation
Targeted (6) 1 citation
Endonuclease-mediated (5)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Eng (e-PCR), detects polymorphism
- UniSTS:496650

Fpgs (e-PCR), detects polymorphism
- UniSTS:143137

AI662476 (e-PCR)
- UniSTS:165162

AI528660 (e-PCR)
- UniSTS:185469

Eng (e-PCR), detects polymorphism
- UniSTS:142990

Eng (e-PCR), detects polymorphism
- UniSTS:496827

NoName (e-PCR)
- UniSTS:548542

RH124683 (e-PCR)
- UniSTS:161505

D2Mit366 (e-PCR), detects polymorphism
- UniSTS:129262

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
contributes_to BMP binding	ISO Inferred from Sequence Orthology more info
enables coreceptor activity	ISO Inferred from Sequence Orthology more info
enables galactose binding	ISO Inferred from Sequence Orthology more info
enables glycosaminoglycan binding	IBA Inferred from Biological aspect of Ancestor more info
enables glycosaminoglycan binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables signaling receptor activator activity	ISO Inferred from Sequence Orthology more info
contributes_to transforming growth factor beta binding	IBA Inferred from Biological aspect of Ancestor more info
enables transforming growth factor beta binding	IDA Inferred from Direct Assay more info	PubMed
contributes_to transforming growth factor beta binding	ISO Inferred from Sequence Orthology more info
enables transforming growth factor beta binding	ISO Inferred from Sequence Orthology more info
enables transforming growth factor beta receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables type I transforming growth factor beta receptor binding	ISO Inferred from Sequence Orthology more info
enables type II transforming growth factor beta receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables type II transforming growth factor beta receptor binding	ISO Inferred from Sequence Orthology more info

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

Component	Evidence Code	Pubs
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in endothelial microparticle	IDA Inferred from Direct Assay more info	PubMed
located_in external side of plasma membrane	ISO Inferred from Sequence Orthology more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear body	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of receptor complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: endoglin

Names: cell surface MJ7/18 antigen; transmembrane glycoprotein

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.

mRNA and Protein(s)

NM_001146348.1 → NP_001139820.1 endoglin isoform 3 precursor

See identical proteins and their annotated locations for NP_001139820.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a protein (isoform 3) that is one amino acid shorter than isoform 1.

Source sequence(s)

AK151302, BY226445

Consensus CDS

CCDS50570.1

UniProtKB/TrEMBL

E9Q5I7, Q3UAM9, Q5IRN0

Related

ENSMUSP00000130585.3, ENSMUST00000167841.8

Conserved Domains (1) summary

smart00241
Location:361 → 501

ZP; Zona pellucida (ZP) domain
NM_001146350.1 → NP_001139822.1 endoglin isoform 2 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1, resulting in a protein (isoform 2) that has a shorter and distinct C-terminus, compared to isoform 1. This is also known as S-endoglin.

Source sequence(s)

AK151302, AL772271, BB851508, BY226445

Consensus CDS

CCDS50569.1

UniProtKB/TrEMBL

F7A1B4, Q5IRN0

Related

ENSMUSP00000108897.3, ENSMUST00000113272.8

Conserved Domains (1) summary

smart00241
Location:362 → 502

ZP; Zona pellucida (ZP) domain
NM_007932.2 → NP_031958.2 endoglin isoform 1 precursor

See identical proteins and their annotated locations for NP_031958.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). This is also known as L-endoglin.

Source sequence(s)

AK151302, BB851508, BY226445

Consensus CDS

CCDS15925.1

UniProtKB/Swiss-Prot

Q61520, Q63961, Q8K100

UniProtKB/TrEMBL

Q5IRN0

Related

ENSMUSP00000009705.8, ENSMUST00000009705.14

Conserved Domains (1) summary

smart00241
Location:362 → 502

ZP; Zona pellucida (ZP) domain