Gene

elnb

ID
ZDB-GENE-061212-2
Name
elastin b
Symbol
elnb Nomenclature History
Previous Names
  • eln2 (1)
  • tropoelastin (1)
Type
protein_coding_gene
Location
Chr: 21 Mapping Details/Browsers
Description
Predicted to be an extracellular matrix structural constituent. Predicted to be located in extracellular region. Is expressed in cranium; heart; 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
None
Comparative Information
Expression
All Expression Data
25 figures from 16 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
3 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
sa24024Allele with one point mutationUnknownUnknownENU
sa37373Allele with one point mutationUnknownUnknownENU
1 - 2 of 2
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
CRISPR1-elnb
    Moriyama et al., 2016
    MO1-elnbN/A (2)
    1 - 2 of 2
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    Human Disease
    Associated With elnb 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 elnb 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
    Genome Build: GRCz11Chromosome: 21
    Type Name Annotation Method Has Havana Data Length (nt) Analysis
    mRNA elnb-201 (1) Ensembl 3,671 nt
    mRNA elnb-202 (1) Ensembl 6,204 nt
    1 - 2 of 2
    Interactions and Pathways
    No data available
    Antibodies
    Name Type Antigen Genes Isotype Host Organism Assay Source Citations
    Ab1-elnb polyclonal IgG Rabbit
    • IHC
    17
    1 - 1 of 1
    Plasmids
    No data available
    Constructs
    Construct Regulatory Region Coding Sequence Species Tg Lines Citations
    TgBAC(elnb:LOXP-AmCyan-LOXP-ZsYellow)
    • elnb
    • Danio rerio
    1 (5)
    1 - 1 of 1
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    Marker Relationships
    Relationship Marker Type Marker Accession Numbers Citations
    Contained inBACCH211-13L22ZFIN Curated Data
    Contained inBACCH211-179G4Chung et al., 2006
    Contained inBACDKEY-83D6ZFIN Curated Data
    1 - 3 of 3
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    Sequences
    Orthology
    Comparative Orthology
    Alliance
    Gene Tree
    Ensembl
    Species Symbol Chromosome Accession # Evidence
    HumanELN7
    Conserved genome location (synteny) (1)
    Amino acid sequence comparison (1)
    MouseEln5
    Conserved genome location (synteny) (1)
    Amino acid sequence comparison (1)
    Citations
    1 - 10 of 22
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