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Edil3 Gene Detail
Summary
  • Symbol
    Edil3
  • Name
    EGF-like repeats and discoidin I-like domains 3
  • Synonyms
    Del1, Del-1, developmental endothelial locus-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1329025
    NCBI Gene: 13612
  • Alliance
    gene page
  • Transcription Start Sites
    17 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:88969591-89471342 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 45.30 cM, cytoband C3
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    4148 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1329025
 protein coding gene Chr13:88969591-89471344 (+)
129S1/SvImJ MGP_129S1SvImJ_G0020798
 protein coding gene Chr13:89919712-90464646 (+)
A/J MGP_AJ_G0020752
 protein coding gene Chr13:86614237-87110706 (+)
AKR/J MGP_AKRJ_G0020725
 protein coding gene Chr13:89250728-89770650 (+)
BALB/cJ MGP_BALBcJ_G0020748
 protein coding gene Chr13:87270328-87776238 (+)
C3H/HeJ MGP_C3HHeJ_G0020542
 protein coding gene Chr13:88997496-89516697 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021185
 protein coding gene Chr13:92773148-93328766 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018753
 protein coding gene Chr13:82704137-83187479 (+)
CAST/EiJ MGP_CASTEiJ_G0020060
 protein coding gene Chr13:88125925-88682391 (+)
CBA/J MGP_CBAJ_G0020501
 protein coding gene Chr13:96376949-96945672 (+)
DBA/2J MGP_DBA2J_G0020626
 protein coding gene Chr13:86373184-86890566 (+)
FVB/NJ MGP_FVBNJ_G0020606
 protein coding gene Chr13:85248184-85741268 (+)
LP/J MGP_LPJ_G0020699
 protein coding gene Chr13:90094551-90620593 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020635
 protein coding gene Chr13:96508432-97272170 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021225
 protein coding gene Chr13:88661219-89181958 (+)
PWK/PhJ MGP_PWKPhJ_G0019813
 protein coding gene Chr13:85098398-85623152 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019636
 protein coding gene Chr13:84886375-85410417 (+)
WSB/EiJ MGP_WSBEiJ_G0020118
 protein coding gene Chr13:89146702-89663514 (+)



Homology
more
  • Human Ortholog
    EDIL3, EGF like repeats and discoidin domains 3
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EDIL3, EGF like repeats and discoidin domains 3
  • Synonyms
    DEL1
  • Links
    NCBI Gene ID: 10085
    neXtProt AC: NX_O43854
    UniProt: O43854

  • Chr Location
    5q14.3; chr5:83940554-84384880 (-)  GRCh38
Human Diseases
less
  • Mutations/Alleles
    1 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    13 phenotypes from 4 alleles in 5 genetic backgrounds
    379 phenotypes from multigenic genotypes
    22 images
    531 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.
Mice homozygous for a null mutation are viable and fertile with no noticeable fur phenotype. Homozygous KO leads to absence of bone regeneration after induced periodontitis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    5
  • GO References
    5
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
non-membrane-bounded 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
    763
  • Tissues
    36
  • cDNA Data
    15
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000034488 Ensembl Gene Model | MGI Sequence Detail 501752 C57BL/6J ±  kb
    transcript ENSMUST00000081769 Ensembl | MGI Sequence Detail 5317 Not Applicable  
    polypeptide ENSMUSP00000080462 Ensembl | MGI Sequence Detail 480 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000006896 EGF-like repeat and discoidin I-like domain-containing protein 3
      (term hierarchy)
    • InterPro Domains
      IPR000421 Coagulation factor 5/8 C-terminal domain
      IPR018097 EGF-like calcium-binding, conserved site
      IPR001881 EGF-like calcium-binding domain
      IPR013032 EGF-like, conserved site
      IPR000742 EGF-like domain
      IPR000152 EGF-type aspartate/asparagine hydroxylation site
      IPR008979 Galactose-binding-like domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 27
      Genomic 2
      cDNA 21
      Primer pair 3
      Other 1

      Microarray probesets 10
    Other
    Accession IDs
    less
    MGI:2656537
    References
    more
    • Summaries
      All 567
      Developmental Gene Expression 12
      Diseases 5
      Gene Ontology 5
      Phenotypes 531
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:345965 Caputo M, et al., Genetic Ablation of STE20-Type Kinase MST4 Does Not Alleviate Diet-Induced MASLD Susceptibility in Mice. Int J Mol Sci. 2024 Feb 19;25(4)
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory