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FBN3 Gene

protein-coding   GIFtS: 58
GCID: GC19M008130

Fibrillin 3

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Fibrillin 31 2
fibrillin-32
KIAA17763

External Ids:    HGNC: 187941   Entrez Gene: 844672   Ensembl: ENSG000001424497   OMIM: 6085295   UniProtKB: Q75N903   

Export aliases for FBN3 gene to outside databases

Previous GC identifers: GC00U991241 GC19M008235 GC19M008025 GC19M008036 GC19M007802


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FBN3 Gene:
This gene encodes a protein that belongs to the fibrillin gene family. Fibrillins are extracellular matrix
molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal
tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin,
lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. While several
transcript variants may exist for this gene, their full-length natures have not been described to date. (provided
by RefSeq, Jul 2008)

GeneCards Summary for FBN3 Gene:
FBN3 (fibrillin 3) is a protein-coding gene. Diseases associated with FBN3 include weill-marchesani syndrome, and marfan syndrome. GO annotations related to this gene include extracellular matrix structural constituent and calcium ion binding. An important paralog of this gene is FBN1.

UniProtKB/Swiss-Prot: FBN3_HUMAN, Q75N90
Function: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur
either in association with elastin or in elastin-free bundles. Fibrillin-containing microfibrils provide
long-term force bearing structural support




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FBN3 gene promoter:
         NF-1   NF-AT   NF-AT4   NF-AT2   NF-AT3   SEF-1 (1)   Pax-4a   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFBN3 promoter sequence
   Search Chromatin IP Primers for FBN3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FBN3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13

FBN3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBN3 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M008130:  view genomic region     (about GC identifiers)

Start:
8,130,286 bp from pter      End:
8,214,730 bp from pter
Size:
84,445 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: FBN3_HUMAN, Q75N90 (See protein sequence)
Recommended Name: Fibrillin-3 precursor  
Size: 2809 amino acids; 300356 Da
Sequence caution: Sequence=BAB47408.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q75N91 Q75N92 Q75N93 Q86SJ5 Q96JP8

Explore the universe of human proteins at neXtProt for FBN3: NX_Q75N90

Explore proteomics data for FBN3 at MOPED

Post-translational modifications: 

  • Probably forms intermolecular disulfide bonds either with other FBN3 molecules or with other components of the
    microfibrils (By similarity)1
  • Glycosylation2 at Asn406, Asn1025, Asn1442, Asn1538, Asn1627, Asn1658, Asn1668, Asn1858, Asn2033, Asn2713

  • See FBN3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_115823.3  
    ENSEMBL proteins: 
     ENSP00000470498   ENSP00000270509   ENSP00000472324   ENSP00000472729   ENSP00000469256  
    Reactome Protein details: Q75N90

    FBN3 Human Recombinant Protein Products:

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    OriGene Custom Protein Services for FBN3
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FBN3

    FBN3 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of FBN3
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for FBN3
    Novus Biologicals FBN3 Antibody
    Abcam antibodies for FBN3
    Cloud-Clone Corp. Antibodies for FBN3
    Search ThermoFisher Antibodies for FBN3
    LSBio Antibodies in human, mouse, rat for FBN3

    FBN3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for FBN3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for FBN3
    Cloud-Clone Corp. CLIAs for FBN3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 9):
     IPR017878 TB_dom
     IPR000742 EG-like_dom
     IPR026823 cEGF
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS

    Graphical View of Domain Structure for InterPro Entry Q75N90

    ProtoNet protein and cluster: Q75N90

    2 Blocks protein domains:
    IPB001881 EGF-like calcium-binding
    IPB006210 Type I EGF


    UniProtKB/Swiss-Prot: FBN3_HUMAN, Q75N90
    Similarity: Belongs to the fibrillin family
    Similarity: Contains 44 EGF-like domains
    Similarity: Contains 9 TB (TGF-beta binding) domains


    FBN3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FBN3_HUMAN, Q75N90
    Function: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur
    either in association with elastin or in elastin-free bundles. Fibrillin-containing microfibrils provide
    long-term force bearing structural support

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent IEA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
         
    FBN3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for FBN3:
     Decreased number of cells in m 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FBN3
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    miRNA
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    miRTarBase miRNAs that target FBN3:
    hsa-mir-132-3p (MIRT021804), hsa-mir-221-3p (MIRT046952)

    Block miRNA regulation of human, mouse, rat FBN3 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate FBN3:
    hsa-miR-1273d hsa-miR-152 hsa-miR-4324 hsa-miR-544b hsa-miR-148b hsa-miR-148a
    SwitchGear 3'UTR luciferase reporter plasmidFBN3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FBN3

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    Browse Sino Biological Human cDNA Clones
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FBN3

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBN3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FBN3_HUMAN, Q75N90: Secreted, extracellular space, extracellular matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    lysosome1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix IEA--

    FBN3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for FBN3 About    
    See pathways by source

    SuperPathContained pathways About
    1Integrin Pathway
    FAK1 Signaling0.67
    UPA-UPAR Pathway0.56
    Integrin Pathway0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    2ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    3Phospholipase-C Pathway
    Phospholipase-C Pathway0.56
    PTEN Pathway0.56
    4Elastic fibre formation
    Elastic fibre formation0.73
    5Degradation of the extracellular matrix
    Extracellular matrix organization0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for FBN3 (see all 13)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    3 Reactome Pathways for FBN3
        Molecules associated with elastic fibres
    Elastic fibre formation
    Degradation of the extracellular matrix



    FBN3 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FBN3
    Interactions:

        Search GeneGlobe Interaction Network for FBN3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for FBN3 (Q75N902, 3 ENSP000002705094) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ANXA7P200732, 3MINT-8248351 I2D: score=2 
    BIDP559572, 3MINT-8249520 I2D: score=2 
    C11orf58O001932, 3MINT-8249795 I2D: score=2 
    CDKN1AP389362, 3MINT-8251882 I2D: score=2 
    DAZAP2Q150382, 3MINT-8254012 I2D: score=2 
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FBN3

    1 HMDB Compound for FBN3    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FBN3 gene: 
    NM_032447.3  

    Unigene Cluster for FBN3:

    Fibrillin 3
    Hs.370362  [show with all ESTs]
    Unigene Representative Sequence: AY165863
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000600128 ENST00000270509(uc002mje.3 uc002mjf.3) ENST00000601739
    ENST00000595036 ENST00000601281 ENST00000598269 ENST00000602121 ENST00000594331

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat FBN3 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate FBN3:
    hsa-miR-1273d hsa-miR-152 hsa-miR-4324 hsa-miR-544b hsa-miR-148b hsa-miR-148a
    SwitchGear 3'UTR luciferase reporter plasmidFBN3 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for FBN3
    Predesigned siRNA for gene silencing in human, mouse, rat FBN3
    Clone
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    OriGene clones in human, mouse for FBN3 (see all 4)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FBN3 (NM_032447)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FBN3
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FBN3
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for FBN3
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat FBN3
      QuantiTect SYBR Green Assays in human, mouse, rat FBN3
      QuantiFast Probe-based Assays in human, mouse, rat FBN3

    Additional mRNA sequence: 

    AB053450.2 AK074501.1 AK095563.1 AK096539.1 AK131282.1 AY165863.1 AY165864.1 AY165865.1 
    BC153882.1 

    7 DOTS entries:

    DT.100744014  DT.100019307  DT.121439819  DT.97803365  DT.70104387  DT.121439821  DT.427725 

    Selected AceView cDNA sequences (see all 90):

    CD634018 CD634034 CD634036 CD634019 AY165864 AI341180 NM_032447 AY165865 
    AY165863 CD634011 CD634038 CD634025 CD634020 CD634035 AK000036 CD633985 
    CD634024 CD634048 CD634005 CD634027 CD634000 AB053450 CD634007 CD634004 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for FBN3    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
    SP1:        -     -                                                                                                                                             
    SP2:              -                                                                                                                                             
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            

    ExUns: 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^ 50 ^ 51a ·
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                        -   

    ExUns: 51b ^ 52 ^ 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58 ^ 59 ^ 60 ^ 61 ^ 62 ^ 63 ^ 64 ^ 65
    SP1:                                                                                          
    SP2:                                                                                          
    SP3:                                                                                          
    SP4:                                                              -                           


    ECgene alternative splicing isoforms for FBN3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FBN3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAATGGGCA
    FBN3 Expression
    About this image

    FBN3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FBN3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.370362

    UniProtKB/Swiss-Prot: FBN3_HUMAN, Q75N90
    Tissue specificity: Predominantly expressed in connective tissues such as skeletal muscle, tendon, skin,
    perichondrium and periosteum. Highly expressed in fetal lung, brain, kidney. Expressed at low level in prostate,
    testis, mammary gland, uterus, ovary, placenta, bladder, adrenal gland, thyroid, fetal thymus, fetal liver,
    liver, fetal heart and heart

        Custom PCR Arrays for FBN3
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBN3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of chordates.

    Orthologs for FBN3 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia FBN31 fibrillin 3 86.02(n)
    85.71(a)
      485006  XM_542124.3  XP_542124.3 
    chicken
    (Gallus gallus)
    Aves FBN31 fibrillin 3 73.27(n)
    73.62(a)
      395079  XM_418173.4  XP_418173.4 
    lizard
    (Anolis carolinensis)
    Reptilia FBN36
    fibrillin 3
    72(a)
    1 ↔ 1
    GL344437.1(1041-34280)
    zebrafish
    (Danio rerio)
    Actinopterygii fbn2b1 fibrillin 2b 69.07(n)
    69.78(a)
      571786  NM_001135790.1  NP_001129262.1 


    ENSEMBL Gene Tree for FBN3 (if available)
    TreeFam Gene Tree for FBN3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FBN3 gene
    FBN12  EGFL62  VWCE2  NELL22  NELL12  NPNT2  FBN22  
    Selected SIMAP similar genes for FBN3 using alignment to 5 protein entries:     FBN3_HUMAN (see all proteins) (see all similar genes):
    PP187    FBN2    FBN1    UMOD    LTBP1    LTBP2
    PROS1    FBLN2    SNED1    EFEMP1    FBLN5    FBLN1
    EGFL7    LTBP4    NELL2    NPNT    HMCN1    DKFZp586A1519

    FBN3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FBN3 (see all 2874)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1136198491,2
    C--7820368(+) CAAAGACACA   
       CAC
    /-
    ACACA
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1807070961,2
    --8129886(+) GCAGTC/TCAGCC 1 -- ds50010--------
    rs1864865751,2
    --8129946(+) AATTTA/TAAAAA 1 -- ds50010--------
    rs1381285031,2
    --8130023(+) TGCTCA/GAGCCC 1 -- ds50010--------
    rs2001195801,2
    --8130094(+) CAAGA-/ATCCCTG 1 -- ds50010--------
    rs129731451,2
    C,F--8130095(+) CAAGAA/CCCTGC 1 -- ds50014Minor allele frequency- C:0.45NA WA EA 360
    rs129731481,2
    C,F--8130096(+) AAGACT/CCTGCC 1 -- ds50013Minor allele frequency- C:0.46WA NA EA 358
    rs73510531,2
    C,A--8130100(+) ccctgT/Cctcag 1 -- ds50015Minor allele frequency- C:0.28WA CSA NA EA 361
    rs1418174921,2
    --8130161(+) GAAGCA/GTGAGC 1 -- ds50010--------
    rs73510831,2
    C,F,A,H--8130238(+) AGTCCA/GAGGGC 1 -- ds500124Minor allele frequency- N:0.01NS EA NA CSA WA 2560

    HapMap Linkage Disequilibrium report for FBN3 (8130286 - 8214730 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FBN3 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1156835CNV Deletion17803354
    esv2718115CNV Deletion23290073
    esv2718118CNV Deletion23290073
    dgv618e199CNV Deletion23128226
    esv2670077CNV Deletion23128226
    esv2718116CNV Deletion23290073
    esv1031279CNV Insertion17803354
    nsv910994CNV Loss21882294
    nsv469677CNV Loss16826518
    nsv833734CNV Loss17160897

    Human Gene Mutation Database (HGMD): FBN3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FBN3
    DNA2.0 Custom Variant and Variant Library Synthesis for FBN3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608529    OMIM disorders: --

    5 diseases for FBN3:    
    About MalaCards
    weill-marchesani syndrome    marfan syndrome    polycystic ovary syndrome    thyroiditis
    prostatitis

    2 diseases from the University of Copenhagen DISEASES database for FBN3:
    Polycystic ovary syndrome     Weill-Marchesani syndrome

    FBN3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): FBN3
    Human Genome Epidemiology (HuGE) Navigator: FBN3 (5 documents)

    Export disorders for FBN3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FBN3 gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with FBN3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues. (PubMed id 14962672)1, 2, 9 Corson G.M.... Sakai L.Y. (Genomics 2004)
    2. Genetic and gene expression analyses of the polycystic ovary syndrome candidate gene fibrillin-3 and other fibrillin family members in human ovaries. (PubMed id 19692420)1, 4, 9 Prodoehl M.J....Rodgers R.J. (Mol. Hum. Reprod. 2009)
    3. Identification of a polycystic ovary syndrome susceptibility variant in fibrillin-3 and association with a metabolic phenotype. (PubMed id 17785364)1, 4, 9 Urbanek M....Dunaif A. (J. Clin. Endocrinol. Metab. 2007)
    4. Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients. (PubMed id 15221638)1, 2, 9 Uyeda T.... Ito E. (J. Hum. Genet. 2004)
    5. Family-based analysis of candidate genes for polycystic ovary syndrome. (PubMed id 20200332)1, 4, 9 Ewens K.G....Spielman R.S. (J. Clin. Endocrinol. Metab. 2010)
    6. A variant in the fibrillin-3 gene is associated with TGF-I^ and inhibin B levels in women with polycystic ovary syndrome. (PubMed id 20630504)1, 4 Raja-Khan N....Legro R.S. (Fertil. Steril. 2010)
    7. [FBN3 gene polymorphisms in adolescent idiopathic scoliosis patients]. (PubMed id 19192405)1, 4 Cao X.B....Qiu X.S. (Zhonghua Yi Xue Za Zhi 2008)
    8. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)1, 2 Nagase T.... Ohara O. (DNA Res. 2001)
    9. Microsatellite polymorphism in the fibrillin 3 gene and susceptibility to PCOS: a case-control study and meta-analysis. (PubMed id 23265956)1 Xie G.B....Wang Y. (Reprod. Biomed. Online 2013)
    10. Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. (PubMed id 22359512)4 Demirkan A....Schmitz G. (PLoS Genet. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84467 HGNC: 18794 AceView: FBN3 Ensembl:ENSG00000142449 euGenes: HUgn84467
    ECgene: FBN3 H-InvDB: FBN3

    (According to HUGE)
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    HUGE: KIAA1776

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FBN3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FBN3 gene:
    Search GeneIP for patents involving FBN3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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