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    Fbn2 fibrillin 2 [ Mus musculus (house mouse) ]

    Gene ID: 14119, updated on 19-Sep-2017
    Official Symbol
    Fbn2provided by MGI
    Official Full Name
    fibrillin 2provided by MGI
    Primary source
    MGI:MGI:95490
    See related
    Ensembl:ENSMUSG00000024598
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    sy; sne; Fib-2; BC063774; mKIAA4226
    Orthologs
    Location:
    18 D3; 18 32.15 cM
    Exon count:
    65
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 18 NC_000084.6 (58008623..58210564, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 18 NC_000084.5 (58168277..58369580, complement)

    Chromosome 18 - NC_000084.6Genomic Context describing neighboring genes Neighboring gene predicted gene, 35751 Neighboring gene solute carrier family 12, member 2 Neighboring gene predicted gene, 41741 Neighboring gene predicted gene, 26507 Neighboring gene solute carrier family 27 (fatty acid transporter), member 6

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA4226

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    calcium ion binding TAS
    Traceable Author Statement
    more info
    PubMed 
    extracellular matrix structural constituent IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    bone trabecula formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    embryonic limb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    limb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of bone mineralization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sequestering of TGFbeta in extracellular matrix IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular matrix ISO
    Inferred from Sequence Orthology
    more info
     
    extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
    PubMed 
    microfibril IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microfibril ISO
    Inferred from Sequence Orthology
    more info
     
    microfibril TAS
    Traceable Author Statement
    more info
    PubMed 
    proteinaceous extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    fibrillin-2
    Names
    syndatyly ems

    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_010181.2NP_034311.2  fibrillin-2 precursor

      See identical proteins and their annotated locations for NP_034311.2

      Status: VALIDATED

      Source sequence(s)
      AC102317, AC127358
      Consensus CDS
      CCDS37827.1
      UniProtKB/Swiss-Prot
      Q61555
      Related
      ENSMUSP00000025497.5, ENSMUST00000025497.6
      Conserved Domains (9) summary
      cd11304
      Location:28212868
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00179
      Location:22062245
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:803838
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:17421779
      TB; TB domain
      pfam06247
      Location:12861439
      Plasmod_Pvs28; Plasmodium ookinete surface protein Pvs28
      pfam12662
      Location:783806
      cEGF; Complement Clr-like EGF-like
      pfam12947
      Location:14051440
      EGF_3; EGF domain
      pfam14670
      Location:12391274
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:24822522
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000084.6 Reference GRCm38.p4 C57BL/6J

      Range
      58008623..58210564 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017317828.1XP_017173317.1  fibrillin-2 isoform X1

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