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    col1a2 collagen, type I, alpha 2 [ Danio rerio (zebrafish) ]

    Gene ID: 336471, updated on 9-Dec-2024

    Summary

    Official Symbol
    col1a2provided by ZNC
    Official Full Name
    collagen, type I, alpha 2provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-030131-8415
    See related
    Ensembl:ENSDARG00000020007 AllianceGenome:ZFIN:ZDB-GENE-030131-8415
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    zehn2357; alpha2(I); wu:fa98d05; wu:fa99g10; wu:fb04c08; wu:fb11d06; hm:zehn2357
    Summary
    Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within response to mechanical stimulus and skeletal system development. Predicted to be located in extracellular region. Predicted to be part of collagen type I trimer. Predicted to be active in collagen-containing extracellular matrix and extracellular space. Is expressed in several structures, including cranium; dermomyotome; integument; muscle; and pectoral fin. Used to study Ehlers-Danlos syndrome and osteogenesis imperfecta. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome (multiple); heart valve disease; intracranial aneurysm; osteogenesis imperfecta (multiple); and osteoporosis. Orthologous to human COL1A2 (collagen type I alpha 2 chain). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
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    Genomic context

    See col1a2 in Genome Data Viewer
    Location:
    chromosome: 19
    Exon count:
    51
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 19 NC_007130.7 (40983221..41002336)
    105 previous assembly GRCz10 (GCF_000002035.5) 19 NC_007130.6 (41396092..41415219)

    Chromosome 19 - NC_007130.7Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC137488548 Neighboring gene Bet1 golgi vesicular membrane trafficking protein Neighboring gene CAS1 domain containing 1 Neighboring gene sarcoglycan, epsilon Neighboring gene protein phosphatase 1, regulatory subunit 9A

    Genomic regions, transcripts, and products

    Expression

    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

    General gene information

    Markers

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables extracellular matrix structural constituent IEA
    Inferred from Electronic Annotation
    more info
     
    enables extracellular matrix structural constituent conferring tensile strength IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within response to mechanical stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of collagen trimer IEA
    Inferred from Electronic Annotation
    more info
     
    part_of collagen type I trimer IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in collagen-containing extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_182968.2NP_892013.2  collagen alpha-2(I) chain precursor

      See identical proteins and their annotated locations for NP_892013.2

      Status: PROVISIONAL

      Source sequence(s)
      BC071278
      UniProtKB/TrEMBL
      A0A8M1P8M3, Q1LW91, Q6IQX2
      Related
      ENSDARP00000118091.1, ENSDART00000144544.3
      Conserved Domains (2) summary
      pfam01391
      Location:936995
      Collagen; Collagen triple helix repeat (20 copies)
      pfam01410
      Location:11201351
      COLFI; Fibrillar collagen C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007130.7 Reference GRCz11 Primary Assembly

      Range
      40983221..41002336
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_068215040.1XP_068071141.1  collagen alpha-2(I) chain isoform X1

      UniProtKB/TrEMBL
      A0A8M1P8M3, Q1LW91, Q6IQX2