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ZIRC
ZFIN ID: ZDB-GENE-980526-192
Gene Name: collagen, type II, alpha 1a
Gene Symbol: col2a1a
Sequence Ontology ID : SO:0000704

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Previous Names: col2a1, coll2a1, fb38c06, fc10c01, wu:fb38c06 (1), wu:fc10c01

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(Including Attributions)
Location: Chr: 8 Mapping Details/Browsers
Nomenclature History
AUTOMATED DESCRIPTION
Predicted to have extracellular matrix structural constituent. Involved in axon guidance; embryonic skeletal system development; and notochord development. Predicted to localize to the collagen  ...
GENE EXPRESSION
All Expression Data: 159 figures from 127 publications
Wild-type Stages, Structures: Gastrula:50%-epiboly (5.25h-5.66h) to Adult (90d-730d, breeding adult)
 
Curated Microarray Expression: GEO (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
dmh27 Point Mutation Unknown Premature Stop ENU
dmh28 Point Mutation Unknown Nonsynonymous ENU
sa532 Point Mutation Unknown Splice Site ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa21270 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa34379 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa34380 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Targeting reagents:
    DISEASE ASSOCIATED WITH col2a1a HUMAN ORTHOLOG
    Disease Ontology Term OMIM Term OMIM Phenotype ID
    achondrogenesis type II Achondrogenesis, type II or hypochondrogenesis 200610
    Kniest dysplasia Kniest dysplasia 156550
    Legg-Calve-Perthes disease Legg-Calve-Perthes disease 150600
    multiple epiphyseal dysplasia with myopia and deafness Epiphyseal dysplasia, multiple, with myopia and deafness 132450
    spondyloepimetaphyseal dysplasia, Strudwick type SMED Strudwick type 184250
    spondyloepiphyseal dysplasia congenita SED congenita 183900
    Stickler syndrome Stickler syndrome, type I 108300
    Vitreoretinopathy with phalangeal epiphyseal dysplasia
    Spondyloepiphyseal dysplasia, Stanescu type 616583
    Spondyloepiphyseal dysplasia, Stanescu type 616583
    Czech dysplasia 609162
    Stickler sydrome, type I, nonsyndromic ocular 609508
    Avascular necrosis of the femoral head 608805
    Platyspondylic skeletal dysplasia, Torrance type 151210
    Osteoarthritis with mild chondrodysplasia 604864
    Spondyloperipheral dysplasia 271700
    DISEASE ASSOCIATED WITH col2a1a VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process notochord development (more)
    Cellular Component collagen trimer (more)
    Molecular Function extracellular matrix structural constituent (more)
    GO Terms (all 10)
    TRANSCRIPTS
    Type Name Length (bp) Analysis
    mRNA col2a1a-202 (1) 5937
    GENE PRODUCT DESCRIPTION No description available
    INTERACTIONS AND PATHWAYS
    ANTIBODIESNo data available
    PLASMIDSNo data available
    MARKER RELATIONSHIPS
    col2a1aContained in: [BAC] CH211-216K22 (1) (order this)
    col2a1aEncodes: [EST] fb38c06 (1), fc10c01 (1)
    [cDNA] MGC:174994 (1), MGC:195369 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_131292 (1) 4862bp
    Genomic GenBank:BX927144 (1) 168503bp
    Select Tool
    Polypeptide UniProtKB:B3DKQ3 (1) 1491aa
    Sequence Clusters UniGene:75057 (1)
    Sequence Information (all 33)
    ORTHOLOGY for col2a1a (Chr: 8)
    CITATIONS (218)