ZFIN ID: ZDB-GENE-980526-192
Gene Name: collagen, type II, alpha 1a
Gene Symbol: col2a1a    Nomenclature History

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

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 8 Mapping Details/Browsers
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 trimer; extracellular matrix; and extracellular space. Human ortholog(s) of this gene implicated in several diseases, including Stickler syndrome; bone disease (multiple); cleft palate; eye disease (multiple); and multiple epiphyseal dysplasia with myopia and deafness. Is expressed in several structures, including endoderm; fin; floor plate; head; and skeletal system. Orthologous to human COL2A1 (collagen type II alpha 1 chain).
Genome Resources: Alliance (1),  Gene:562496 (1),  Ensembl(GRCz11):ENSDARG00000069093 (1)
GENE EXPRESSION
All Expression Data: 163 figures from 130 publications
Wild-type Stages, Structures: Gastrula:50%-epiboly (5.25h-5.66h) to Adult (90d-730d, breeding adult)
 
Curated Microarray Expression: GEO (1) , Expression Atlas (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)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-col2a1a N/A 1
    MO2-col2a1a N/A 5
    MO3-col2a1a N/A 1
    DISEASE ASSOCIATED WITH col2a1a HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    achondrogenesis type II Alliance Achondrogenesis, type II or hypochondrogenesis 200610
    Kniest dysplasia Alliance Kniest dysplasia 156550
    Legg-Calve-Perthes disease Alliance Legg-Calve-Perthes disease 150600
    multiple epiphyseal dysplasia with myopia and deafness Alliance Epiphyseal dysplasia, multiple, with myopia and deafness 132450
    spondyloepimetaphyseal dysplasia, Strudwick type Alliance SMED Strudwick type 184250
    spondyloepiphyseal dysplasia congenita Alliance SED congenita 183900
    Stickler syndrome Alliance Stickler syndrome, type I 108300
    Torrance type platyspondylic dysplasia Alliance Platyspondylic skeletal dysplasia, Torrance type 151210
    Avascular necrosis of the femoral head 608805
    Czech dysplasia 609162
    Osteoarthritis with mild chondrodysplasia 604864
    Spondyloepiphyseal dysplasia, Stanescu type 616583
    Spondyloperipheral dysplasia 271700
    Stickler sydrome, type I, nonsyndromic ocular 609508
    Vitreoretinopathy with phalangeal epiphyseal dysplasia
    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)
    PROTEIN FAMILIES, DOMAINS AND SITES
    Type InterPro ID Name
    Domain IPR000885 Fibrillar collagen, C-terminal
    Domain IPR001007 VWFC domain
    Repeat IPR008160 Collagen triple helix repeat
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA col2a1a-202 (1)    Ensembl 5937
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM col2a1a
    Construct Regulatory Regions Coding Sequences Species Tg Lines Publications
    Tg(-1.7col2a1a:EGFP-CAAX) col2a1a EGFP Danio rerio 3 8
    Tg(-1.7col2a1a:sec23a-2A-EGFP) col2a1a 2AEGFPsec23a Danio rerio 1 1
    Tg(col2a1a:bmpr1aa) col2a1a bmpr1aa Danio rerio 1 2
    Tg(col2a1a:CFP-NTR) col2a1a CFPNTR Danio rerio 1 1
    Tg(col2a1a:EGFP-dnHsa.RARE) col2a1a EGFP Danio rerioHomo sapiens 1 1
    Tg(col2a1a:GAL4-VP16) col2a1a GAL4VP16 Danio rerio 1 1
    Tg(col2a1a:GAL4FF) col2a1a GAL4FF Danio rerio 1 3
    Tg(col2a1a:GFP) col2a1a GFP Danio rerio 1 3
    Tg(col2a1a:mib_M1013R) col2a1a mib1 Danio rerio 1 2
    Tg(wt1b:GFP,col2a1a:mCherry) col2a1awt1b GFPmCherry Danio rerio 1 3
    Tg2(col2a1a:EGFP) col2a1a EGFP Danio rerio 1 1
    Tg3(col2a1a:EGFP) col2a1a EGFP Danio rerio 1 1
    TgBAC(col2a1a:EGFP) col2a1a EGFP Danio rerio 1 5
    TgBAC(col2a1a:mCherry) col2a1a mCherry Danio rerio 1 22
    TgBAC(col2a1a:mCherry-NTR) col2a1a mCherryNTR Danio rerio 1 3
    MARKER RELATIONSHIPS
    col2a1a Contained in: [BAC] CH211-216K22 (1)
    col2a1a Encodes: [EST] fb38c06 (1), fc10c01 (1)
    [cDNA] MGC:174994 (1), MGC:195369 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_131292 (1) 4862 bp
    Genomic GenBank:BX927144 (1) 168503 bp
    Select Tool
    Polypeptide UniProtKB:B3DKQ3 (1) 1491 aa
    Sequence Information (all 32)
    ORTHOLOGY for col2a1a ( Chr: 8 )
    CITATIONS (230)