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Eng endoglin [ Mus musculus (house mouse) ]

Gene ID: 13805, updated on 22-May-2016
Official Symbol
Engprovided by MGI
Official Full Name
endoglinprovided by MGI
Primary source
MGI:MGI:95392
See related
Ensembl:ENSMUSG00000026814 Vega:OTTMUSG00000011981
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Endo; CD105; AI528660; AI662476; S-endoglin
Orthologs
Location:
2 B; 2 22.09 cM
Exon count:
15
Annotation release Status Assembly Chr Location
105 current GRCm38.p3 (GCF_000001635.23) 2 NC_000068.7 (32646532..32682669)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 2 NC_000068.6 (32502115..32538189)

Chromosome 2 - NC_000068.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 39788 Neighboring gene ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 Neighboring gene adenylate kinase 1 Neighboring gene microRNA 1954 Neighboring gene folylpolyglutamyl synthetase Neighboring gene microRNA 8093 Neighboring gene cyclin-dependent kinase 9 (CDC2-related kinase)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Alleles

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

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
contributes_to BMP binding ISO
Inferred from Sequence Orthology
more info
 
galactose binding ISO
Inferred from Sequence Orthology
more info
 
glycosaminoglycan binding ISO
Inferred from Sequence Orthology
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
transforming growth factor beta binding IDA
Inferred from Direct Assay
more info
PubMed 
transforming growth factor beta binding ISO
Inferred from Sequence Orthology
more info
 
contributes_to transforming growth factor beta binding ISO
Inferred from Sequence Orthology
more info
 
transforming growth factor beta receptor, cytoplasmic mediator activity ISO
Inferred from Sequence Orthology
more info
 
transforming growth factor beta-activated receptor activity ISO
Inferred from Sequence Orthology
more info
 
type I transforming growth factor beta receptor binding ISO
Inferred from Sequence Orthology
more info
 
type II transforming growth factor beta receptor binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
artery morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cell chemotaxis ISO
Inferred from Sequence Orthology
more info
 
cell migration ISO
Inferred from Sequence Orthology
more info
 
cell migration involved in endocardial cushion formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell motility ISO
Inferred from Sequence Orthology
more info
 
central nervous system vasculogenesis ISO
Inferred from Sequence Orthology
more info
 
detection of hypoxia ISO
Inferred from Sequence Orthology
more info
 
extracellular matrix constituent secretion ISO
Inferred from Sequence Orthology
more info
 
extracellular matrix disassembly ISO
Inferred from Sequence Orthology
more info
 
heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
heart looping IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell migration ISO
Inferred from Sequence Orthology
more info
 
negative regulation of endothelial cell proliferation ISO
Inferred from Sequence Orthology
more info
 
negative regulation of nitric-oxide synthase activity ISO
Inferred from Sequence Orthology
more info
 
negative regulation of pathway-restricted SMAD protein phosphorylation ISO
Inferred from Sequence Orthology
more info
 
negative regulation of protein autophosphorylation ISO
Inferred from Sequence Orthology
more info
 
negative regulation of transcription from RNA polymerase II promoter ISO
Inferred from Sequence Orthology
more info
 
patterning of blood vessels IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of BMP signaling pathway ISO
Inferred from Sequence Orthology
more info
 
positive regulation of angiogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of angiogenesis TAS
Traceable Author Statement
more info
PubMed 
positive regulation of collagen biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
positive regulation of gene expression ISO
Inferred from Sequence Orthology
more info
 
positive regulation of pathway-restricted SMAD protein phosphorylation ISO
Inferred from Sequence Orthology
more info
 
positive regulation of protein phosphorylation ISO
Inferred from Sequence Orthology
more info
 
positive regulation of systemic arterial blood pressure ISO
Inferred from Sequence Orthology
more info
 
positive regulation of transcription from RNA polymerase II promoter ISO
Inferred from Sequence Orthology
more info
 
regulation of transcription, DNA-templated ISO
Inferred from Sequence Orthology
more info
 
regulation of transforming growth factor beta receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
 
regulation of transforming growth factor beta receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
response to hypoxia ISO
Inferred from Sequence Orthology
more info
 
smooth muscle tissue development IMP
Inferred from Mutant Phenotype
more info
PubMed 
transforming growth factor beta receptor signaling pathway IC
Inferred by Curator
more info
PubMed 
vasculogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
vasculogenesis ISO
Inferred from Sequence Orthology
more info
 
venous blood vessel morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
wound healing ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
cell surface ISO
Inferred from Sequence Orthology
more info
 
cytoplasm ISO
Inferred from Sequence Orthology
more info
 
endothelial microparticle IDA
Inferred from Direct Assay
more info
PubMed 
external side of plasma membrane ISO
Inferred from Sequence Orthology
more info
 
extracellular space ISO
Inferred from Sequence Orthology
more info
 
focal adhesion ISO
Inferred from Sequence Orthology
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
receptor complex ISO
Inferred from Sequence Orthology
more info
 
Preferred Names
endoglin
Names
cell surface MJ7/18 antigen
transmembrane glycoprotein

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
    Q3UAM9
    Related
    ENSMUSP00000130585, OTTMUSP00000012839, ENSMUST00000167841, OTTMUST00000028347
    Conserved Domains (1) summary
    pfam00100
    Location:361556
    Zona_pellucida; Zona pellucida-like 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, Q3UAM9
    Related
    ENSMUSP00000108897, OTTMUSP00000069590, ENSMUST00000113272, OTTMUST00000028350
    Conserved Domains (1) summary
    pfam00100
    Location:362557
    Zona_pellucida; Zona pellucida-like 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
    Q63961
    UniProtKB/TrEMBL
    Q3UAM9
    Related
    ENSMUSP00000009705, OTTMUSP00000012838, ENSMUST00000009705, OTTMUST00000028346
    Conserved Domains (1) summary
    pfam00100
    Location:362557
    Zona_pellucida; Zona pellucida-like domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 105 details...

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

Reference GRCm38.p3 C57BL/6J

Genomic

  1. NC_000068.7 Reference GRCm38.p3 C57BL/6J

    Range
    32646532..32682669
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006497663.1XP_006497726.1  

    Conserved Domains (1) summary
    pfam00100
    Location:362581
    Zona_pellucida; Zona pellucida-like domain
  2. XM_006497664.1XP_006497727.1  

    Conserved Domains (1) summary
    pfam00100
    Location:361580
    Zona_pellucida; Zona pellucida-like domain

Alternate Mm_Celera

Genomic

  1. AC_000024.1 Alternate Mm_Celera

    Range
    32353177..32389276
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)