ZFIN ID: ZDB-GENE-060503-488
Gene Name: collagen, type VIII, alpha 2
Gene Symbol: col8a2    Nomenclature History

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Previous Name: si:ch211-197n10.4

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 19 Mapping Details/Browsers
Description: Predicted to have extracellular matrix structural constituent. Predicted to be involved in extracellular matrix organization. Predicted to localize to extracellular matrix and extracellular space. Human ortholog(s) of this gene implicated in Fuchs' endothelial dystrophy and posterior polymorphous corneal dystrophy 2. Orthologous to human COL8A2 (collagen type VIII alpha 2 chain).
Genome Resources: Alliance (1),  Gene:794479 (1),  Ensembl(GRCz11):ENSDARG00000060893 (2)
GENE EXPRESSION No data available
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa23569 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa23570 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • PHENOTYPE No data available
    DISEASE ASSOCIATED WITH col8a2 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Fuchs' endothelial dystrophy Alliance Corneal dystrophy, Fuchs endothelial, 1 136800
    posterior polymorphous corneal dystrophy 2 Alliance Corneal dystrophy, posterior polymorphous 2 609140
    DISEASE ASSOCIATED WITH col8a2 VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process extracellular matrix organization (more)
    Cellular Component collagen trimer (more)
    Molecular Function extracellular matrix structural constituent (more)
    GO Terms (all 6)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA col8a2-201 (1)    Ensembl 3045
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM col8a2 No data available
    MARKER RELATIONSHIPS
    col8a2 Contained in: [BAC] CH211-197N10 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_001082901 (1) 3045 nt
    Genomic GenBank:BX957241 (1) 199001 nt
    Select Tool
    Polypeptide UniProtKB:Q1LUA9 (1) 686 aa
    Sequence Information (all 6)
    ORTHOLOGY for col8a2 ( Chr: 19 )
    CITATIONS (25)