U.S. flag

An official website of the United States government

Links from GEO Profiles

    • Showing Current items.

    Fbn2 fibrillin 2 [ Mus musculus (house mouse) ]

    Gene ID: 14119, updated on 9-Dec-2024

    Summary

    Official Symbol
    Fbn2provided by MGI
    Official Full Name
    fibrillin 2provided by MGI
    Primary source
    MGI:MGI:95490
    See related
    Ensembl:ENSMUSG00000024598 AllianceGenome:MGI:95490
    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; mKIAA4226
    Summary
    Enables hormone activity. Involved in several processes, including bone trabecula formation; positive regulation of osteoblast differentiation; and sequestering of TGFbeta in extracellular matrix. Acts upstream of or within embryonic limb morphogenesis. Located in extracellular region and microfibril. Is expressed in several structures, including eye; heart; mesonephros; respiratory system; and urinary system. Used to study distal arthrogryposis. 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 limb E14.5 (RPKM 40.9), CNS E11.5 (RPKM 13.1) and 5 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Fbn2 in Genome Data Viewer
    Location:
    18 D3; 18 32.15 cM
    Exon count:
    66
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (58141689..58343200, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (58008623..58210572, complement)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 35751 Neighboring gene STARR-seq mESC enhancer starr_44694 Neighboring gene solute carrier family 12, member 2 Neighboring gene STARR-positive B cell enhancer mm9_chr18:58136200-58136501 Neighboring gene CapStarr-seq enhancer MGSCv37_chr18:58168874-58169112 Neighboring gene STARR-seq mESC enhancer starr_44697 Neighboring gene STARR-seq mESC enhancer starr_44698 Neighboring gene STARR-seq mESC enhancer starr_44699 Neighboring gene predicted gene, 41741 Neighboring gene predicted gene, 54032

    Genomic regions, transcripts, and products

    Expression

    • 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    General gene information

    Clone Names

    • KIAA4226

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding PubMed 
    enables extracellular matrix structural constituent  
    enables extracellular matrix structural constituent PubMed 
    enables hormone activity PubMed 
    enables hormone activity  
    enables hormone activity  
    enables protein binding PubMed 
    Process Evidence Code Pubs
    involved_in anatomical structure morphogenesis  
    involved_in bone trabecula formation PubMed 
    involved_in camera-type eye development  
    involved_in embryonic eye morphogenesis  
    acts_upstream_of_or_within embryonic limb morphogenesis PubMed 
    involved_in glucose homeostasis PubMed 
    acts_upstream_of_or_within limb morphogenesis PubMed 
    involved_in placenta development  
    involved_in placenta development  
    involved_in positive regulation of bone mineralization PubMed 
    involved_in positive regulation of osteoblast differentiation PubMed 
    involved_in regulation of trophoblast cell migration  
    involved_in regulation of trophoblast cell migration  
    involved_in sequestering of TGFbeta in extracellular matrix PubMed 
    involved_in signal transduction  
    Component Evidence Code Pubs
    located_in collagen-containing extracellular matrix PubMed 
    is_active_in extracellular matrix  
    located_in extracellular region PubMed 
    located_in extracellular region PubMed 
    is_active_in extracellular space  
    is_active_in extracellular space  
    located_in microfibril PubMed 
    located_in microfibril  
    located_in microfibril PubMed 

    General protein information

    Preferred Names
    fibrillin-2
    Names
    syndatyly ems

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      E9QJZ4, Q61555, Q63957
      Related
      ENSMUSP00000025497.6, ENSMUST00000025497.8
      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: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000084.7 Reference GRCm39 C57BL/6J

      Range
      58141689..58343200 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017317828.3XP_017173317.1  fibrillin-2 isoform X1

      Conserved Domains (10) summary
      cd11304
      Location:27882835
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00179
      Location:21732212
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:770805
      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:9711013
      TB; TB domain
      pfam12662
      Location:750773
      cEGF; Complement Clr-like EGF-like
      pfam12947
      Location:13721407
      EGF_3; EGF domain
      pfam14670
      Location:12061241
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      pfam18193
      Location:76112
      Fibrillin_U_N; Fibrillin 1 unique N-terminal domain
      cl00057
      Location:24872523
      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:285325
      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 ...
    2. XM_030250333.2XP_030106193.1  fibrillin-2 isoform X2

      UniProtKB/TrEMBL
      Q571J3
      Conserved Domains (8) summary
      cd11304
      Location:22032250
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00179
      Location:15881627
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:185220
      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:386428
      TB; TB domain
      pfam12662
      Location:165188
      cEGF; Complement Clr-like EGF-like
      pfam12947
      Location:787822
      EGF_3; EGF domain
      pfam14670
      Location:621656
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:19021938
      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 ...
    External link. Please review our privacy policy.