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Eng endoglin [ Mus musculus (house mouse) ]

Gene ID: 13805, updated on 27-Feb-2024

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
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Genomic context

See Eng in Genome Data Viewer
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_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 52551 Neighboring gene ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 Neighboring gene STARR-positive B cell enhancer ABC_E10096 Neighboring gene STARR-seq mESC enhancer starr_04202 Neighboring gene adenylate kinase 1 Neighboring gene STARR-seq mESC enhancer starr_04203 Neighboring gene STARR-seq mESC enhancer starr_04204 Neighboring gene microRNA 1954 Neighboring gene predicted gene, 26236 Neighboring gene STARR-positive B cell enhancer ABC_E4436 Neighboring gene STARR-positive B cell enhancer ABC_E505 Neighboring gene folylpolyglutamyl synthetase Neighboring gene microRNA 8093 Neighboring gene STARR-seq mESC enhancer starr_04206 Neighboring gene cyclin dependent kinase 9 Neighboring gene microRNA 2861

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

Preferred Names
endoglin
Names
cell surface MJ7/18 antigen
transmembrane glycoprotein

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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)

  1. NM_001146348.1NP_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:361501
    ZP; Zona pellucida (ZP) domain
  2. NM_001146350.1NP_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:362502
    ZP; Zona pellucida (ZP) domain
  3. NM_007932.2NP_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:362502
    ZP; Zona pellucida (ZP) domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    32536607..32572681
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)