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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
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:32536607-32572681 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 22.09 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    910 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95392
 protein coding gene Chr2:32536607-32572681 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ENG, endoglin
  • Synonyms
    END, HHT1, ORW1
  • Links
    NCBI Gene ID: 2022
    neXtProt AC: NX_P17813
    UniProt: P17813

  • Chr Location
    9q34.11; chr9:127811130-127854773 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Eng mouse models; 5 with human ENG associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 6 models
      
IDs
IDs
IDs
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
    68 phenotypes from 7 alleles in 13 genetic backgrounds
    5 images
    77 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
    118
  • GO References
    15
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    861
  • Tissues
    83
  • cDNA Data
    10
  • Literature Summary
    80
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 ZRU/MplStud  
    polypeptide Q63961 UniProt | EBI | MGI Sequence Detail 653 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 20
      cDNA 11
      Primer pair 8
      Other 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-9502, MGI:2138998, MGI:2139038
    References
    more
    • Summaries
      All 208
      Developmental Gene Expression 80
      Diseases 6
      Gene Ontology 15
      Phenotypes 77
    • 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:347285 Miladinovic O, et al., A multistep computational approach reveals a neuro-mesenchymal cell population in the embryonic hematopoietic stem cell niche. Development. 2024 Apr 1;151(7):dev202614
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory