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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
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:32646595-32682669 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 22.09 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    142 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95392
protein coding gene Chr2:32646595-32682669 (.)
129S1/SvImJ MGP_129S1SvImJ_G0025616
protein coding gene Chr2:31125493-31162942 (+)
A/J MGP_AJ_G0025593
protein coding gene Chr2:29797806-29834728 (+)
AKR/J MGP_AKRJ_G0025563
protein coding gene Chr2:30864277-30901825 (+)
BALB/cJ MGP_BALBcJ_G0025590
protein coding gene Chr2:29919583-29955650 (+)
C3H/HeJ MGP_C3HHeJ_G0025350
protein coding gene Chr2:30749429-30786353 (+)
C57BL/6NJ MGP_C57BL6NJ_G0026034
protein coding gene Chr2:32067187-32106035 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023443
protein coding gene Chr2:28516016-28552846 (+)
CAST/EiJ MGP_CASTEiJ_G0024812
protein coding gene Chr2:30690239-30731950 (+)
CBA/J MGP_CBAJ_G0025328
protein coding gene Chr2:33287863-33330494 (+)
DBA/2J MGP_DBA2J_G0025461
protein coding gene Chr2:29564389-29601373 (+)
FVB/NJ MGP_FVBNJ_G0025423
protein coding gene Chr2:29442117-29479265 (+)
LP/J MGP_LPJ_G0025547
protein coding gene Chr2:31001605-31037888 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025454
protein coding gene Chr2:32916761-32953159 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026092
protein coding gene Chr2:30738066-30775288 (+)
PWK/PhJ MGP_PWKPhJ_G0024560
protein coding gene Chr2:29468734-29505540 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024360
protein coding gene Chr2:30892475-30928656 (+)
WSB/EiJ MGP_WSBEiJ_G0024881
protein coding gene Chr2:30916684-30952778 (+)



Homology
more
  • Human Ortholog
    ENG, endoglin
  • Vertebrate Orthologs
    8
  • Human Ortholog
    ENG, endoglin
    Orthology source: HGNC, HomoloGene
  • 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
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  • Phenotype Summary
    57 phenotypes from 6 alleles in 12 genetic backgrounds
    5 images
    60 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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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 13805 NCBI Gene Model | MGI Sequence Detail 36075 C57BL/6J ±  kb
    transcript NM_001146350 RefSeq | MGI Sequence Detail 3572 C57BL/6  
    polypeptide Q63961 UniProt | EBI | MGI Sequence Detail 653 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 18
      cDNA 11
      Primer pair 6
      Other 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-9502, MGI:2138998, MGI:2139038
    References
    more
    • Summaries
      All 164
      Developmental Gene Expression 59
      Diseases 6
      Gene Ontology 13
      Phenotypes 60
    • 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:265178 Gallardo-Vara E, et al., Soluble endoglin regulates expression of angiogenesis-related proteins and induction of arteriovenous malformations in a mouse model of hereditary hemorrhagic telangiectasia. Dis Model Mech. 2018 Aug 14;

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    12/11/2018
    MGI 6.13
    The Jackson Laboratory