About   Help   FAQ
Eln Gene Detail
Summary
  • Symbol
    Eln
  • Name
    elastin
  • Synonyms
    E030024M20Rik, tropoelastin
  • Feature Type
    protein coding gene
  • IDs
    MGI:95317
    NCBI Gene: 13717
  • Gene Overview
    MyGene.info: ELN
Location & Maps
more
  • Sequence Map
    Chr5:134702593-134747323 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      44731 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 74.76 cM
  • Mapping Data
    10 experiments
Homology
more
  • Human Ortholog
    ELN, elastin
  • Human Ortholog
    ELN, elastin
    Orthology source: HGNC
  • Synonyms
    SVAS, WBS, WS
  • Links
    NCBI Gene ID: 2006
    neXtProt AC: NX_P15502

  • Chr Location
    7q11.23; chr7:74027772-74069907 (+)  GRCh38.p2

  • HCOP
    human homology predictions: ELN
  • Gene Tree
    Eln
Human Diseases
more
  • Diseases
    2 with Eln mouse models; 3 with human ELN associations

Human Disease Mouse Models
       Supravalvular Aortic Stenosis; SVAS   OMIM: 185500 View 2 models
       Hypertension, Essential   OMIM: 145500 View 1 model
       Cutis Laxa, Autosomal Dominant 1; ADCL1   OMIM: 123700 View 2 models
Williams-Beuren Syndrome; WBS   OMIM: 194050
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    31 phenotypes from 1 allele in 4 genetic backgrounds
    12 phenotypes from multigenic genotypes
    3 images
    33 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.
  • All Mutations and Alleles
    6
  • Targeted
    4
  • Transgenic
    2
  • Genomic Mutations
    2 involving Eln
  • Incidental Mutations
Mice homozygous for null allele die in the early postnatal period of an obstructive arterial disease. They exhibit a decrease in arterial diameter due to subendothelial accumulation of arterial smooth muscle, and display defective terminal airway development resulting in emphysematous morphology.
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
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
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000055763 VEGA Gene Model | MGI Sequence Detail 44731 C57BL/6J ±  kb
transcript OTTMUST00000138003 VEGA | MGI Sequence Detail 3853 Not Applicable  
polypeptide OTTMUSP00000072607 VEGA | MGI Sequence Detail 860 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    203 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 32
    Genomic 8
    cDNA 17
    Primer pair 6
    Other 1

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-9357, MGI:2140853, MGI:2140912, MGI:2442008
References
more
  • Summaries
    All 131
    Developmental Gene Expression 63
    Diseases 8
    Gene Ontology 7
    Phenotypes 33
  • Earliest
    J:10990 Schurr E, et al., Mapping of Col3a1 and Col6a3 to proximal murine chromosome 1 identifies conserved linkage of structural protein genes between murine chromosome 1 and human chromosome 2q. Genomics. 1990 Nov;8(3):477-86
  • Latest
    J:232801 Misra A, et al., Integrin beta3 inhibition is a therapeutic strategy for supravalvular aortic stenosis. J Exp Med. 2016 Mar 7;213(3):451-63

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
08/17/2016
MGI 6.05
The Jackson Laboratory