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Eng
Gene Detail
Symbol

Name
ID
Eng
endoglin
MGI:95392
Synonyms
CD105, Endo
Feature Type
protein coding gene
Genetic Map
Chromosome 2
22.09 cM
Detailed Genetic Map ± 1 cM


Mapping data(8)
Sequence Map
Chr2:32646595-32682669 bp, + strand
From VEGA annotation of GRCm38

  36075 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:92  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog

HCOP human homology predictions: ENG
Protein SuperFamily: endoglin
Gene Tree: Eng

Human
homologs
ENG, endoglin
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 2022
neXtProt AC: NX_P17813

Human Synonyms: END, HHT1, ORW1

Human Chr (Location): 9q34.11; chr9:127815012-127854773 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human ENG

Mutations,
alleles, and
phenotypes
All mutations/alleles(41) : Gene trapped(36) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for targeted null mutations show defective vascular development, extra-arterial hematopoiesis, cardiac defects and die by embryonic day 11.0. Heterozygotes develop hemorrhagic telangiectasia causing strokes, fatal hemorrhage and heart failure.
 
Human Diseases Modeled in Mice Using Eng (2)    Mutations Annotated to Human Diseases (4)    Phenotype Images(5)
Interactions
Eng interacts with 201 markers (Mir15a, Mir15b, Mir16-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (73 annotations)
Process angiogenesis, artery morphogenesis, ...
Component cell surface, cytoplasm, ...
Function BMP binding, galactose binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (52 records)
Data Summary: Results (70)    Tissues (30)    Images (39)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 8
In situ reporter (knock in) 24
RT-PCR 38
cDNA source data(9)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA ENG    NEW 
Molecular
reagents
All nucleic(16) cDNA(10) Primer pair(6)
Microarray probesets(7)
Other database
links
VEGA Gene Model OTTMUSG00000011981 (Evidence)
Ensembl Gene Model ENSMUSG00000026814 (Evidence)
Entrez Gene 13805 (Evidence)
DFCI TC1575398, TC1585764, TC1595304, TC1706424
DoTS DT.101225153, DT.40138671, DT.87069287, DT.94233556, DT.99850345
NIA Mouse Gene Index U001627, U305468
Consensus CDS Project CCDS15925.1, CCDS50569.1, CCDS50570.1
International Mouse Phenotyping Consortium Status Eng
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000011981 VEGA Gene Model | MGI Sequence Detail 36075 C57BL/6J ±  kb
transcript OTTMUST00000028346 VEGA | MGI Sequence Detail 3422 Not Applicable 
polypeptide OTTMUSP00000012838 VEGA | MGI Sequence Detail 653 Not Applicable 

For the selected sequences
All sequences(74) RefSeq(10) UniProt(6)
Polymorphisms
RFLP(3) : SNPs within 2kb(142 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001507 Zona pellucida domain
Protein Ontology PR:000001345 endoglin
References
(Earliest) J:11178 Spies T, et al., Restored expression of major histocompatibility class I molecules by gene transfer of a putative peptide transporter [see comments]. Nature. 1991 May 23;351(6324):323-4
(Latest) J:219810 Qu X, et al., Tie1 is required for lymphatic valve and collecting vessel development. Dev Biol. 2015 Mar 1;399(1):117-28
All references(139)
Disease annotation references (5)
Other
accession IDs
MGD-MRK-9502, MGI:2138998, MGI:2139038

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory