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Fbn2 fibrillin 2 [ Rattus norvegicus (Norway rat) ]

Gene ID: 689008, updated on 14-Nov-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, Nov 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 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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