About   Help   FAQ
Eng Gene Detail
Summary
  • Symbol
    Eng
  • Name
    endoglin
  • Synonyms
    CD105, Endo
  • Feature Type
    protein coding gene
  • IDs
    MGI:95392
    NCBI Gene: 13805
  • Gene Overview
    MyGene.info: ENG
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr2:32646595-32682669 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      36075 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 22.09 cM
  • Mapping Data
    8 experiments
Homology
more
  • Human Ortholog
    ENG, endoglin
  • Vertebrate Orthologs
    8
  • Human Ortholog
    ENG, endoglin
    Orthology source: HomoloGene, HGNC
  • Synonyms
    END, HHT1, ORW1
  • Links
    NCBI Gene ID: 2022
    neXtProt AC: NX_P17813
    UniProt: P17813

  • Chr Location
    9q34.11; chr9:127815012-127854773 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Eng mouse models; 1 with human ENG associations

Human Disease Mouse Models
      
IDs
View 6 models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    57 phenotypes from 6 alleles in 12 genetic backgrounds
    5 images
    59 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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 sequence
    Polymorphisms
    less
    • SNPs within 2kb
      142 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 17
      cDNA 10
      Primer pair 6
      Other 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-9502, MGI:2138998, MGI:2139038
    References
    more
    • Summaries
      All 161
      Developmental Gene Expression 58
      Diseases 6
      Gene Ontology 13
      Phenotypes 59
    • 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:254979 Redgrave RE, et al., Cardiosphere-Derived Cells Require Endoglin for Paracrine-Mediated Angiogenesis. Stem Cell Reports. 2017 May 9;8(5):1287-1298

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    06/12/2018
    MGI 6.12
    The Jackson Laboratory