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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
Chr2:32646595-32682658 bp, + strand
From VEGA annotation of GRCm38

  36064 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

Protein SuperFamily: endoglin
Gene Tree: Eng

Human
homologs
Human Homolog ENG, endoglin
NCBI Gene ID 2022
neXtProt AC  NX_P17813
Human Synonyms  END, HHT1, ORW1
Human Chr (Location)  9q34.11; chr9:127815012-127854773 (-)  GRCh38
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 Using Mouse Eng (2)    Alleles 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: (70 annotations)
Process angiogenesis, artery morphogenesis, ...
Component cell surface, cytoplasm, ...
Function galactose binding, glycosaminoglycan binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (48 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)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(16) cDNA(10) Primer pair(6)
Microarray probesets(7)
Other database
links
VEGA Gene ModelOTTMUSG00000011981 (Evidence)
Ensembl Gene ModelENSMUSG00000026814 (Evidence)
Entrez Gene13805 (Evidence)
DFCITC1575398, TC1585764, TC1595304, TC1706424
DoTSDT.101225153, DT.40138671, DT.87069287, DT.94233556, DT.99850345
NIA Mouse Gene IndexU001627, U305468
Consensus CDS ProjectCCDS15925.1, CCDS50569.1, CCDS50570.1
International Mouse Knockout Project StatusEng
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000011981 VEGA Gene Model | MGI Sequence Detail 36064 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(76) RefSeq(10) UniProt(11)
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:212952 Choi EJ, et al., Novel brain arteriovenous malformation mouse models for type 1 hereditary hemorrhagic telangiectasia. PLoS One. 2014;9(2):e88511
All references(136)
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
11/18/2014
MGI 5.20
The Jackson Laboratory