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    Fbn2 fibrillin 2 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 689008, updated on 9-Dec-2024

    Summary

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    Symbol
    Fbn2provided by RGD
    Full Name
    fibrillin 2provided by RGD
    Primary source
    RGD:620910
    See related
    EnsemblRapid:ENSRNOG00000043219 AllianceGenome:RGD:620910
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable hormone activity. Predicted to be an extracellular matrix structural constituent. Predicted to be involved in several processes, including bone trabecula formation; eye development; and positive regulation of osteoblast differentiation. Predicted to act upstream of or within embryonic limb morphogenesis. Predicted to be located in extracellular region and microfibril. Predicted to be active in extracellular matrix and extracellular space. Human ortholog(s) of this gene implicated in congenital contractural arachnodactyly and scoliosis. Orthologous to human FBN2 (fibrillin 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Testes (RPKM 40.3), Uterus (RPKM 32.2) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Fbn2 in Genome Data Viewer
    Location:
    18q12.1
    Exon count:
    66
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 18 NC_086036.1 (53696197..53901992, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 18 NC_051353.1 (51499670..51703976, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 18 NC_005117.4 (53068495..53272254, complement)

    Chromosome 18 - NC_086036.1Genomic Context describing neighboring genes Neighboring gene solute carrier family 12 member 2 Neighboring gene U6 spliceosomal RNA Neighboring gene uncharacterized LOC134483035 Neighboring gene uncharacterized LOC120098234 Neighboring gene uncharacterized LOC102548224

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Cloning of rat fibrillin-2 cDNA and its role in branching morphogenesis of embryonic lung. Yang Q, et al. Dev Biol, 1999 Aug 1. PMID 10419698
    2. Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. Gupta PA, et al. Hum Mutat, 2002 Jan. PMID 11754102
    3. Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis. Buchan JG, et al. Hum Mol Genet, 2014 Oct 1. PMID 24833718, Free PMC Article
    4. Mutation of the gene encoding fibrillin-2 results in syndactyly in mice. Chaudhry SS, et al. Hum Mol Genet, 2001 Apr 1. PMID 11285249
    5. Mutations of the mouse Twist and sy (fibrillin 2) genes induced by chemical mutagenesis of ES cells. Browning VL, et al. Genomics, 2001 May 1. PMID 11350121

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hormone activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in bone trabecula formation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in camera-type eye development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in embryonic eye morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within embryonic limb morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in glucose homeostasis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within limb morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in placenta development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of bone mineralization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of osteoblast differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of trophoblast cell migration ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in sequestering of TGFbeta in extracellular matrix ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in microfibril ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    fibrillin-2
    Names
    fibrillin-2-like

    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_031826.2 → NP_114014.2  fibrillin-2 precursor

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000018
      UniProtKB/TrEMBL
      A6IX89, F1M5Q4, Q9WUH9
      Related
      ENSRNOP00000059245.4, ENSRNOT00000066548.5
      Conserved Domains (10) summary
      cd11304
      Location:2821 → 2868
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00179
      Location:1843 → 1875
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:803 → 838
      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:1005 → 1046
      TB; TB domain
      pfam12662
      Location:783 → 806
      cEGF; Complement Clr-like EGF-like
      pfam12947
      Location:1405 → 1440
      EGF_3; EGF domain
      pfam14670
      Location:1239 → 1274
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      pfam18193
      Location:76 → 112
      Fibrillin_U_N; Fibrillin 1 unique N-terminal domain
      cl00057
      Location:2520 → 2556
      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 ...
      cl21504
      Location:318 → 358
      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 ...

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086036.1 Reference GRCr8

      Range
      53696197..53901992 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039097130.2 → XP_038953058.1  fibrillin-2 isoform X1

      UniProtKB/TrEMBL
      A6IX88
      Conserved Domains (8) summary
      cd11304
      Location:2439 → 2486
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00179
      Location:1461 → 1493
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:421 → 456
      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:623 → 664
      TB; TB domain
      pfam12662
      Location:401 → 424
      cEGF; Complement Clr-like EGF-like
      pfam12947
      Location:1023 → 1058
      EGF_3; EGF domain
      pfam14670
      Location:857 → 892
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:2138 → 2174
      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 ...
    Nucleotide Protein Strain
    Heading Accession and Version

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