ZFIN ID: ZDB-GENE-070501-7
Gene Name: collagen, type VI, alpha 2
Gene Symbol: col6a2    Nomenclature History

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 11 Mapping Details/Browsers
Description: Involved in axonogenesis; muscle fiber development; and muscle organ development. Predicted to localize to collagen-containing extracellular matrix and extracellular space. Is expressed in several structures, including anterior segment eye; gut; integument; musculature system; and yolk syncytial layer. Human ortholog(s) of this gene implicated in Ullrich congenital muscular dystrophy. Orthologous to human COL6A2 (collagen type VI alpha 2 chain).
Genome Resources: Alliance (1),  Gene:567771 (1),  Ensembl(GRCz11):ENSDARG00000061436 (2)
GENE EXPRESSION
All Expression Data: 12 figures from 4 publications
Directly Submitted Expression Data: 7 figures (17 images) from Thisse et al., 2004 [IMAGE:7156276]
Wild-type Stages, Structures: Segmentation:20-25 somites (19.0h-22.0h) to Adult (90d-730d, breeding adult)
 
High Throughput Expression: Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa15560 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa41880 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-col6a2 N/A 1
    DISEASE ASSOCIATED WITH col6a2 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Bethlem myopathy Alliance Bethlem myopathy 1 158810
    Ullrich congenital muscular dystrophy Alliance Ullrich congenital muscular dystrophy 1 254090
    ?Myosclerosis, congenital 255600
    DISEASE ASSOCIATED WITH col6a2 VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process axonogenesis (more)
    Cellular Component collagen-containing extracellular matrix (more)
    GO Terms (all 5)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA col6a2-201 (1)    Ensembl 5960
    Browsers: NCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    Ab1-col6a2 polyclonal Rabbit Abgent
    1
    CONSTRUCTS WITH SEQUENCES FROM col6a2 No data available
    MARKER RELATIONSHIPS
    col6a2 Contained in: [BAC] CH211-227N13, DKEY-287I12 (order this)
    col6a2 Encodes: [EST] IMAGE:7156276 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:XM_691072 (1) 4216 nt
    Genomic GenBank:BX323597 (1) 177773 nt
    Select Tool
    Polypeptide UniProtKB:E7FCV8 (1) 1015 aa
    Sequence Information (all 17)
    ORTHOLOGY for col6a2 ( Chr: 11 )
    CITATIONS (22)