Gene

elna

ID
ZDB-GENE-061212-1
Name
elastin a
Symbol
elna Nomenclature History
Previous Names
  • eln1 (1)
  • tropoelastin (1)
Type
protein_coding_gene
Location
Chr: 15 Mapping Details/Browsers
Description
Predicted to be an extracellular matrix structural constituent. Predicted to be located in extracellular region. Is expressed in cranium; heart; nervous system; swim bladder; and ventral aorta. Human ortholog(s) of this gene implicated in several diseases, including Williams-Beuren syndrome; aortic disease (multiple); autoimmune disease (multiple); cutis laxa (multiple); and retinal disease (multiple). Orthologous to human ELN (elastin).
Genome Resources
Note
No known match in Ensembl GRCz11. Spans a lincRNA gene ENSDARG00000117256.
Comparative Information
Expression
All Expression Data
14 figures from 6 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
6 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
sa11039Allele with one point mutationUnknownSplice SiteENU
sa12235Allele with one point mutationUnknownPremature StopENU
sa17177Allele with one point mutationUnknownPremature StopENU
sa28377Allele with one point mutationUnknownSplice SiteENU
sa32006Allele with one point mutationUnknownPremature StopENU
sa42459Allele with one point mutationUnknownSplice SiteENU
sa42460Allele with one point mutationUnknownSplice SiteENU
sa42461Allele with one point mutationUnknownSplice SiteENU
1 - 8 of 8
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Sequence Targeting Reagents
Human Disease
Associated With elna Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal dominant cutis laxa 1 Alliance Cutis laxa, autosomal dominant 123700
supravalvular aortic stenosis Alliance Supravalvar aortic stenosis 185500
1 - 2 of 2
Associated With elna Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR003979 Tropoelastin
1 - 1 of 1
Domain Details Per Protein
Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-elna polyclonal IgG Rabbit
  • IHC
5
1 - 1 of 1
Plasmids
No data available
Constructs
No data available
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Citations