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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are FAK1 Signaling and MAPK Signaling. GO annotations related to this gene include extracellular matrix structural constituent and calcium ion binding. An important paralog of this gene is LTBP3.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_077812.2  NC_018930.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for FBN3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FBN3_HUMAN, Q75N90 (See protein sequence)
Recommended Name: Fibrillin-3 precursor  
Size: 2809 amino acids; 300356 Da
Subcellular location: Secreted, extracellular space, extracellular matrix
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:

  • UniProtKB: Probably forms intermolecular disulfide bonds either with other FBN3 molecules or with other components of the
    microfibrils (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q75N90

  • FBN3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FBN3 Protein Expression
    REFSEQ proteins: NP_115823.3  
    ENSEMBL proteins: 
     ENSP00000470498   ENSP00000270509   ENSP00000472324   ENSP00000472729   ENSP00000469256  
    Reactome Protein details: Q75N90
    Human Recombinant Protein Products 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 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    FBN3 for ontologies           About GeneDecksing



    FBN3 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for FBN3 

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    Cloud-Clone Corp. CLIAs for FBN3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/8 InterPro protein domains (see all 8):
     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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for FBN3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FBN3

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    miRNA
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    6 QIAGEN miScript miRNA 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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    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBN3


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for FBN3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Integrin Pathway
    Integrin Pathway0.67
    UPA-UPAR Pathway0.56
    FAK1 Signaling0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    2Rho Family GTPases
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    3Elastic fibre formation
    Elastic fibre formation0.84
    Molecules associated with elastic fibres0.84
    4PTEN Pathway
    PTEN Pathway0.56
    Phospholipase-C Pathway0.56
    5Collagen biosynthesis and modifying enzymes
    Extracellular matrix organization0.39

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/13 Downloadable PowerPoint Slides of QIAGEN 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
    Extracellular matrix organization
    Elastic fibre formation



    FBN3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FBN3

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    5/23 Interacting proteins for FBN3 (Q75N902, 3 ENSP000002705094) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FBN3

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

    Search CenterWatch for drugs/clinical trials and news about FBN3

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
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    6 QIAGEN miScript miRNA 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
    Products:
         
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FBN3
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    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
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat FBN3
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FBN3
      QIAGEN 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 

    24/90 AceView cDNA sequences (see all 90):

    CD634034 NM_032447 CD634036 CD634025 AY165863 AI341180 CD634018 CD634019 
    CD634038 CD634011 AY165865 AY165864 AK131282 CD634030 CD634000 AK095563 
    CD634012 CD634027 CD634017 CD634021 CD633985 AA583232 CD634016 CD633991 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See FBN3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FBN3

    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

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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

    This gene was present in the common ancestor of animals.

    Orthologs for FBN3 gene from 6/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia FBN31 fibrillin 3 86.04(n)
    85.71(a)
      485006  XM_542124.2  XP_542124.2 
    chicken
    (Gallus gallus)
    Aves FBN31 fibrillin 3 73.35(n)
    73.65(a)
      395079  XM_418173.3  XP_418173.3 
    lizard
    (Anolis carolinensis)
    Reptilia FBN36
    Uncharacterized protein
    72(a)
    1 ↔ 1
    GL344437.1(1041-34280)
    zebrafish
    (Danio rerio)
    Actinopterygii fbn2b6
    si:ch73-105b23.16
    (see all 3)
    si:ch73-105b23.1
    (see all 3)
    70(a)
    37(a)
    (see all 3)
    1 ↔ 1
    possible ortholog
    (see all 3)
    22(3998379-4039283)
    13(8190649-8194849)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG323736
    frac6
    faulty attraction
    19(a)
    16(a)
    possible ortholog
    possible ortholog
    3L(7643648-7752223)
    3L(7555710-7562599)
    worm
    (Caenorhabditis elegans)
    Secernentea fbn-16
    Protein FBN-1
    16(a)
    possible ortholog
    III(7625376-7641053)


    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)
    About This Section
    Paralogs for FBN3 gene
    LTBP32  HMCN12  FBN22  MEGF62  FBLN52  LTBP42  EFEMP12  LTBP22  
    LTBP12  FBLN22  FBN12  SCUBE32  EFEMP22  SCUBE12  FBLN72  HMCN22  
    FBLN12  SCUBE22  
    18/21 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    PROS1
    LTBP2    FBLN2    SNED1    EFEMP1    FBLN5    FBLN1
    EGFL7    LTBP4    NPNT    NELL2    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2874 SNPs in FBN3 are shown (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
    ----------
    VAR_0194964
    ----see VAR_0194962 R L mis40--------
    VAR_0194974
    ----see VAR_0194972 V F mis40--------
    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

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 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
    SABiosciences Cancer Mutation 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.)
    About This Section
    OMIM gene information: 608529    OMIM disorders: --

    6 diseases for FBN3:    About MalaCards
    weill-marchesani syndrome    marfan syndrome    scoliosis    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)
    About This Section

    PubMed articles for FBN3 gene, integrated from 9 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. (2004)
    2. Genetic and gene expression analyses of the polycysti c 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. (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. (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. (2004)
    5. Family-based analysis of candidate genes for polycyst ic ovary syndrome. (PubMed id 20200332)1, 4, 9 Ewens K.G....Spielman R.S. (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. (2010)
    7. [FBN3 gene polymorphisms in adolescent idiopathic scoliosis patients] (PubMed id 19192405)1, 4 Cao X.B....Qiu X.S. (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. (2001)
    9. Microsatellite polymorphism in the fibrillin 3 gene an d susceptibility to PCOS: a case-control study and meta-analysis. (PubMed id 23265956)1 Xie G.B....Wang Y. (2013)
    10. Genome-wide association study identifies novel loci as sociated with circulating phospho- and sphingolipid concentrations. (PubMed id 22359512)4 Demirkan A....Schmitz G. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 84467 HGNC: 18794 AceView: FBN3 Ensembl:ENSG00000142449 euGenes: HUgn84467
    ECgene: FBN3 H-InvDB: FBN3

    (According to HUGE)
    About This Section
    HUGE: KIAA1776

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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