ZFIN ID: ZDB-GENE-030131-8415
Gene Name: collagen, type I, alpha 2
Gene Symbol: col1a2    Nomenclature History

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Previous Names: alpha2(I) (1), hm:zehn2357, wu:fa98d05 (1), wu:fa99g10 (1), wu:fb04c08, wu:fb11d06, zehn2357

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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. Involved in response to mechanical stimulus and skeletal system development. Predicted to localize to the collagen type I trimer and extracellular space. Used to study Ehlers-Danlos syndrome and osteogenesis imperfecta. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome; heart valve disease; intracranial aneurysm; osteogenesis imperfecta (multiple); and osteoporosis. Is expressed in several structures, including cranium; integument; myoseptum; osteoblast; and pectoral fin. Orthologous to human COL1A2 (collagen type I alpha 2 chain).
Genome Resources: Alliance (1),  Gene:336471 (1),  Ensembl(GRCz11):ENSDARG00000020007 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
dmh15 Point Mutation Unknown Nonsynonymous ENU
ihb230 Small Deletion Exon 14 Unknown CRISPR
la013496Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa1763 Point Mutation Unknown Splice Site ENU
    sa17981 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa32257 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa36897 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    CRISPR1-col1a2 1
    DISEASE ASSOCIATED WITH col1a2 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    osteogenesis imperfecta type 2 Alliance Osteogenesis imperfecta, type II 166210
    osteogenesis imperfecta type 3 Alliance Osteogenesis imperfecta, type III 259420
    osteogenesis imperfecta type 4 Alliance Osteogenesis imperfecta, type IV 166220
    osteoporosis Alliance {Osteoporosis, postmenopausal} 166710
    Ehlers-Danlos syndrome, arthrochalasia type, 2 617821
    Ehlers-Danlos syndrome, cardiac valvular type 225320
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process response to mechanical stimulus (more)
    Cellular Component collagen trimer (more)
    Molecular Function extracellular matrix structural constituent (more)
    GO Terms (all 8)
    PROTEIN FAMILIES, DOMAINS AND SITES
    Type InterPro ID Name
    Domain IPR000885 Fibrillar collagen, C-terminal
    Repeat IPR008160 Collagen triple helix repeat
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA col1a2-201 (1)    Ensembl 5750
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM col1a2
    Construct Regulatory Regions Coding Sequences Species Tg Lines Publications
    Tg(col1a2:LOXP-mCherry-NTR) col1a2 LOXPmCherryNTR Danio rerio 1 3
    Tg(col1a2:LOXP-TagBFP-LOXP-mCherry-NTR) col1a2 LOXPmCherryNTRTagBFP Danio rerio 1 3
    tg(krtt1c19e:col1a2-egfp) krtt1c19e col1a2EGFP Danio rerio 1 2
    tg(krtt1c19e:col1a2-mcherry) krtt1c19e col1a2mCherry Danio rerio 1 1
    tgbac(col1a2:gal4-vp16) col1a2 GAL4VP16 Danio rerio 1 2
    tgbac(col1a2:gfp) col1a2 GFP Danio rerio 1 1
    MARKER RELATIONSHIPS
    col1a2 Contained in: [BAC] DKEY-104M9 (1) (order this)
    col1a2 Encodes: [EST] fa98d05 (1), fa99g10 (1), fb04c08, fb11d06, IMAGE:7145608 (1), zehn2357
    [cDNA] MGC:85701 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_182968 (1) 5182 nt
    Genomic GenBank:BX640469 (1) 83435 nt
    Select Tool
    Polypeptide UniProtKB:Q6IQX2 (1) 1352 aa
    Sequence Information (all 25)
    ORTHOLOGY for col1a2 ( Chr: 19 )
    CITATIONS (100)