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

FBN1 Gene

protein-coding   GIFtS: 66
GCID: GC15M048700

Fibrillin 1

(Previous name: fibrillin 1 (Marfan syndrome))
(Previous symbols: FBN, MFS1, WMS)
  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 11 2     ECTOL12
FBN1 2 3     GPHYSD22
MFS11 2 5     MASS2
WMS1 2 5     OCTD2
SSKS2 5     SGS2
Fibrillin 1 (Marfan Syndrome)1     WMS22
Marfan Syndrome1     Fibrillin 152
ACMICD2     fibrillin-12

External Ids:    HGNC: 36031   Entrez Gene: 22002   Ensembl: ENSG000001661477   OMIM: 1347975   UniProtKB: P355553   

Export aliases for FBN1 gene to outside databases

Previous GC identifers: GC15M044259 GC15M041748 GC15M046281 GC15M046418 GC15M046489 GC15M025532


(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 FBN1 Gene:
This gene encodes a member of the fibrillin family. The encoded protein is a large, extracellular matrix
glycoprotein that serve as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils
provide force bearing structural support in elastic and nonelastic connective tissue throughout the body.
Mutations in this gene are associated with Marfan syndrome, isolated ectopia lentis, autosomal dominant
Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome. (provided by RefSeq,
Jul 2008)

GeneCards Summary for FBN1 Gene: 
FBN1 (fibrillin 1) is a protein-coding gene. Diseases associated with FBN1 include marfan syndrome, and neonatal 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: FBN1_HUMAN, P35555
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-1-containing microfibrils provide
long-term force bearing structural support. Regulates osteoblast maturation by controlling TGF-beta
bioavailability and calibrating TGF-beta and BMP levels, respectively

Gene Wiki entry for FBN1 Gene


(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_000015.9  NC_018926.2  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FBN1 gene promoter:
         STAT1   p300   STAT1beta   AP-2gamma   C/EBPalpha   STAT1alpha   AP-2beta   MRF-2   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFBN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for FBN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FBN1


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

Entrez Gene cytogenetic band: 15q21.1   Ensembl cytogenetic band:  15q21.1   HGNC cytogenetic band: 15q21.1

FBN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBN1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M048700:  view genomic region     (about GC identifiers)

Start:
48,700,503 bp from pter      End:
48,938,046 bp from pter
Size:
237,544 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: FBN1_HUMAN, P35555 (See protein sequence)
Recommended Name: Fibrillin-1 precursor  
Size: 2871 amino acids; 312237 Da
Subunit: Interacts with COL16A1. Interacts with integrin alpha-V/beta-3. Interacts with ADAMTSL4. Interacts with
ADAMTS10; this interaction promotes microfibrils assembly. Interacts with THSD4; this interaction promotes fibril
formation (By similarity)
Subcellular location: Secreted, extracellular space, extracellular matrix
Sequence caution: Sequence=CAA45118.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
6/9 PDB 3D structures from and Proteopedia for FBN1 (see all 9):
1APJ (3D)        1EMN (3D)        1EMO (3D)        1LMJ (3D)        1UZJ (3D)        1UZK (3D)    
Secondary accessions: B2RUU0 D2JYH6 Q15972 Q75N87

Explore the universe of human proteins at neXtProt for FBN1: NX_P35555

Explore proteomics data for FBN1 at MOPED 

Post-translational modifications:

  • UniProtKB: Forms intermolecular disulfide bonds either with other fibrillin-1 molecules or with other components of the
    microfibrils
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P35555

  • FBN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FBN1 Protein Expression
    REFSEQ proteins: NP_000129.3  
    ENSEMBL proteins: 
     ENSP00000325527   ENSP00000453958   ENSP00000440294   ENSP00000453901  
    Reactome Protein details: P35555
    Human Recombinant Protein Products for FBN1: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FBN1 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001527microfibril IDA1860873
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix IDA3536967
    GO:0005604basement membrane IDA3536967
    GO:0005615extracellular space IDA--

    FBN1 for ontologies           About GeneDecksing



    FBN1 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/9 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 P35555

    ProtoNet protein and cluster: P35555

    4 Blocks protein domains:
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB001438 Type II EGF-like signature
    IPB001881 EGF-like calcium-binding
    IPB002212 Matrix fibril-associated


    UniProtKB/Swiss-Prot: FBN1_HUMAN, P35555
    Similarity: Belongs to the fibrillin family
    Similarity: Contains 47 EGF-like domains
    Similarity: Contains 9 TB (TGF-beta binding) domains


    FBN1 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: FBN1_HUMAN, P35555
    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-1-containing microfibrils provide
    long-term force bearing structural support. Regulates osteoblast maturation by controlling TGF-beta
    bioavailability and calibrating TGF-beta and BMP levels, respectively

         Genatlas biochemistry entry for FBN1:
    fibrillin 1,major constituent of extracellular matrix,colocalizing with FBNL2 in skin,perichondrium,10nm
    microfibrils,synthetized as profibrillin-1,furin mediated,involved in the maintenance of elastic fibers and
    anchoring epithelial cells to the interstitial matrix

         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 IDA3536967
    GO:0005509calcium ion binding IDA7691719
    GO:0005515protein binding IPI15165854
         
    FBN1 for ontologies           About GeneDecksing


    Phenotypes:
         15/23 MGI mutant phenotypes (inferred from 12 alleles(MGI details for Fbn1) (see all 23):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     embryogenesis  endocrine/exocrine gland  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  mortality/aging  muscle 

    FBN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for FBN1: Fbn1tm3Rmz Fbn1tm2Rmz Fbn1tm1Rmz

       inGenious Targeting Laboratory - Custom generated mouse model solutions for FBN1 
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    hsa-miR-140-5p hsa-miR-520f hsa-miR-1245 hsa-miR-4293 hsa-miR-192* hsa-miR-2113 hsa-miR-92b hsa-miR-4324
    SwitchGear 3'UTR luciferase reporter plasmidFBN1 3' UTR sequence
    Inhib. RNA
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    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBN1


    (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 FBN1 About   (see all 7)                                                                                              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
    5Signaling by GPCR
    Signal Transduction0.55

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/13 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for FBN1 (see all 13)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    5        Reactome Pathways for FBN1
        Molecules associated with elastic fibres
    Extracellular matrix organization
    Integrin cell surface interactions
    Elastic fibre formation
    Signal Transduction



    FBN1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FBN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    5/26 Interacting proteins for FBN1 (P355551, 2, 3 ENSP000003255274) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SPRY2O435972, 3, ENSP000003663064MINT-8272017 I2D: score=2 STRING: ENSP00000366306
    FBLN2P980953, ENSP000003841694I2D: score=2 STRING: ENSP00000384169
    MFAP2P550013, ENSP000003646854I2D: score=2 STRING: ENSP00000364685
    RHOBP627453, ENSP000002722334I2D: score=2 STRING: ENSP00000272233
    VCANP136113, ENSP000002650774I2D: score=2 STRING: ENSP00000265077
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IMP8188302
    GO:0007507heart development IMP15781745
    GO:0030198extracellular matrix organization TAS--
    GO:0035582sequestering of BMP in extracellular matrix ISS--
    GO:0035583sequestering of TGFbeta in extracellular matrix ISS--

    FBN1 for ontologies           About GeneDecksing



    (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

    FBN1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FBN1

    1 HMDB Compound for FBN1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    10/35 Novoseek inferred chemical compound relationships for FBN1 gene (see all 35)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    taad 79.3 2 16646045 (1), 18544034 (1)
    desmosine 74.4 2 11201188 (1), 18326798 (1)
    cysteine 50.8 47 10993712 (5), 15161917 (3), 10636927 (3), 1860873 (2) (see all 25)
    orcein 48.4 3 1689758 (2)
    calcium 30.7 94 9054436 (6), 8995426 (5), 10024441 (5), 7896820 (4) (see all 42)
    chondroitin sulfate 22.6 2 15980072 (1), 1479602 (1)
    heparan sulfate 17.8 5 11461921 (3), 15980072 (1), 18669635 (1)
    rsai 16.3 2 7987336 (1), 7915876 (1)
    homocysteine 16.2 16 15713466 (3), 16096271 (3), 10993712 (2), 19889633 (2) (see all 9)
    tgf beta1 13.7 4 17242066 (3), 11673307 (1)

    Search CenterWatch for drugs/clinical trials and news about FBN1

    (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 FBN1 gene: 
    NM_000138.4  

    Unigene Cluster for FBN1:

    Fibrillin 1
    Hs.591133  [show with all ESTs]
    Unigene Representative Sequence: NM_000138
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000316623(uc010beo.2 uc001zwx.2) ENST00000559133 ENST00000561429
    ENST00000560720 ENST00000537463 ENST00000560820 ENST00000560355 ENST00000558230

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    8/82 QIAGEN miScript miRNA Assays for microRNAs that regulate FBN1 (see all 82):
    hsa-miR-140-5p hsa-miR-520f hsa-miR-1245 hsa-miR-4293 hsa-miR-192* hsa-miR-2113 hsa-miR-92b hsa-miR-4324
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    Additional mRNA sequence: 

    AB208840.1 AK304737.1 AK309616.1 BC146854.1 L13923.1 X62008.1 X63556.1 

    11 DOTS entries:

    DT.447492  DT.101973455  DT.100793642  DT.101982464  DT.40124464  DT.92432160  DT.308186  DT.100793634 
    DT.91976414  DT.95369602  DT.97787434 

    24/327 AceView cDNA sequences (see all 327):

    BU628079 BM740268 AI891007 AA010361 X63556 AW006050 AL602678 BE466598 
    BQ005726 BM784087 BM771804 BM678204 BQ669161 BM784127 BM771917 CF264902 
    AA418674 AU116875 BX480798 AL698770 BU581057 NM_000138 BM759224 AA343896 

    GeneLoc Exon Structure


    (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

    FBN1 expression in normal human tissues (normalized intensities)      FBN1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCAATATGC
    FBN1 Expression
    About this image


    FBN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/23 selected tissues (see all 23) fully expand
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Testicular Interstitial Cells Testis Interstitium
             visceral organ/testis/vasculature of testis   
     
     Adipose (Muscoskeletal System)    fully expand to see all 3 entries
             Visceral White Adipose
             breast ; adipocytes   
             Adipocyte   
     
     Fibroblast
             Detroit 551
             skin ; fibroblasts   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Heart Tube
             Cardiac Myocytes   
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Metanephros

    See FBN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FBN1

    SOURCE GeneReport for Unigene cluster: Hs.591133
        SABiosciences Custom PCR Arrays for FBN1
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBN1

    (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 FBN1 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fbn11 , 5 fibrillin 11, 5 88.88(n)1
    96.31(a)1
      2 (61.38 cM)5
    141181  NM_007993.21  NP_032019.21 
     1253005945 
    chicken
    (Gallus gallus)
    Aves FBN11 fibrillin 1 79.85(n)
    87.19(a)
      373992  XM_413815.3  XP_413815.3 
    lizard
    (Anolis carolinensis)
    Reptilia FBN16
    Uncharacterized protein
    84(a)
    1 ↔ 1
    GL343806.1(56165-176094)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.158722 Xenopus laevis transcribed sequence with moderate similarity to protein spP35556 (H.sapiens) FBN2_HUMAN Fibrillin 2 precursor less 75.43(n)    BJ058705.1 
    zebrafish
    (Danio rerio)
    Actinopterygii FBN1 (2 of 3)6
    fbn2a6
    (see all 5)
    fibrillin 2a
    (see all 5)
    73(a)
    63(a)
    (see all 5)
    1 ↔ many
    1 ↔ many
    (see all 5)
    18(4745331-4769470)
    10(16814682-16843231)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG75263   -- 31(a)   66A5   --
    worm
    (Caenorhabditis elegans)
    Secernentea B0393.53 EGF-like aspartic acid and asparagine
    hydroxylation sites less
    40(a)
    (best of 2)
      III(4840866-4847880)   --


    ENSEMBL Gene Tree for FBN1 (if available)
    TreeFam Gene Tree for FBN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FBN1 gene
    LTBP32  HMCN12  FBN22  MEGF62  FBN32  FBLN52  LTBP42  EFEMP12  
    LTBP22  LTBP12  FBLN22  SCUBE32  EFEMP22  SCUBE12  FBLN72  HMCN22  
    FBLN12  SCUBE22  
    8 SIMAP similar genes for FBN1 using alignment to 8 protein entries:     FBN1_HUMAN (see all proteins):
    PP187    FBN2    FBN3    PROS1    F9    HMCN1
    EMR2    EFEMP1

    FBN1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for FBN1
    PGOHUM00000234127


    (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

    10/5312 SNPs in FBN1 are shown (see all 5312)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0180204
    Marfan syndrome (MFS)4--see VAR_0180202 C S mis40--------
    VAR_0659944
    Marfan syndrome (MFS)4--see VAR_0659942 T A mis40--------
    VAR_0238724
    Marfan syndrome (MFS)4--see VAR_0238722 C G mis40--------
    VAR_0180114
    Marfan syndrome (MFS)4--see VAR_0180112 C S mis40--------
    VAR_0022954
    Marfan syndrome (MFS)4--see VAR_0022952 C R mis40--------
    VAR_0238624
    Marfan syndrome (MFS)4--see VAR_0238622 C R mis40--------
    VAR_0660024
    Marfan syndrome (MFS)4--see VAR_0660022 E G mis40--------
    VAR_0023044
    Marfan syndrome (MFS)4--see VAR_0023042 C G mis40--------
    VAR_0659824
    Marfan syndrome (MFS)4--see VAR_0659822 C Y mis40--------
    VAR_0107764
    Marfan syndrome (MFS)4--see VAR_0107762 C F mis40--------

    HapMap Linkage Disequilibrium report for FBN1 (48700503 - 48938046 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for FBN1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2749666CNV Deletion23290073
    esv2749669CNV Deletion23290073
    esv2749667CNV Deletion23290073
    esv2749668CNV Deletion23290073
    esv2749670CNV Deletion23290073
    esv269240CNV Insertion20981092
    nsv827329CNV Loss20364138
    nsv817692CNV Loss17921354
    nsv94450CNV Loss16902084
    nsv833000CNV Gain17160897


    Human Gene Mutation Database (HGMD): FBN1

    Locus Specific Mutation Databases (LSDB): FBN1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing FBN1
    DNA2.0 Custom Variant and Variant Library Synthesis for FBN1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 134797   
    OMIM disorders: 154700  182212  129600  604308  608328  184900  
    UniProtKB/Swiss-Prot: FBN1_HUMAN, P35555
  • Marfan syndrome (MFS) [MIM:154700]: A hereditary disorder of connective tissue that affects the skeletal,
    ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with Marfan syndrome,
    including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in most
    of the patients and is almost always bilateral. The leading cause of premature death is progressive dilation of
    the aortic root and ascending aorta, causing aortic incompetence and dissection. Neonatal Marfan syndrome is the
    most severe form resulting in death from cardiorespiratory failure in the first few years of life. Note=The
    disease is caused by mutations affecting the gene represented in this entry. The majority of the more than 600
    mutations in FBN1 currently known are point mutations, the rest are frameshifts and splice site mutations. Marfan
    syndrome has been suggested in at least 2 historical figures, Abraham Lincoln and Paganini
  • Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]: An ocular abnormality characterized
    by partial or complete displacement of the lens from its space resulting from defective zonule formation.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Weill-Marchesani syndrome 2 (WMS2) [MIM:608328]: A rare connective tissue disorder characterized by short
    stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis,
    severe myopia and glaucoma. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]: A very rare syndrome characterized by a
    marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular
    abnormalities, mental retardation, developmental delay and learning disabilities. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Overlap connective tissue disease (OCTD) [MIM:604308]: Heritable disorder of connective tissue
    characterized by involvement of the mitral valve, aorta, skeleton, and skin. MASS syndrome is closely resembling
    both the Marfan syndrome and the Barlow syndrome. However, no dislocation of the lenses or aneurysmal changes
    occur in the aorta, and the mitral valve prolapse is by no means invariable. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Stiff skin syndrome (SSKS) [MIM:184900]: A syndrome characterized by hard, thick skin, usually over the
    entire body, which limits joint mobility and causes flexion contractures. Other occasional findings include
    lipodystrophy and muscle weakness. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]: An autosomal dominant disorder characterized by severe
    short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed
    bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals
    have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism,
    long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular
    thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and
    lysosomal-like storage vacuoles in various tissues. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Acromicric dysplasia (ACMICD) [MIM:102370]: An autosomal dominant disorder characterized by severe short
    stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone
    age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have
    distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with
    anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic
    features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well,
    including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of
    the fifth metacarpal. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/121 diseases for FBN1 (see all 121):    About MalaCards
    marfan syndrome    neonatal marfan syndrome    mitral valve prolapse    aortic disease
    shprintzen-goldberg syndrome    ectopia lentis, familial    stiff skin syndrome    mass syndrome
    weill-marchesani syndrome, dominant    fbn1-related weill-marchesani syndrome    progeroid and marfanoid aspect-lipodystrophy syndrome    craniosynostosis, syndromic
    lens subluxation    ectopia lentis, isolated    fbn1-related thoracic aortic aneurysms and aortic dissections    acromicric dysplasia
    geleophysic dysplasia 2    geleophysic dysplasia    congenital contractural arachnodactyly    diaphragmatic eventration

    12 diseases from the University of Copenhagen DISEASES database for FBN1:
    Marfan syndrome     Weill-Marchesani syndrome     Loeys-Dietz syndrome     Mitral valve prolapse
    Connective tissue disease     Aortic aneurysm     Rheumatic disease     Aortic disease
    Lens subluxation     Myopia     Glaucoma     Cutis laxa

    FBN1 for disorders           About GeneDecksing

    10/82 Novoseek inferred disease relationships for FBN1 gene (see all 82)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    marfan syndrome 97.8 577 9430549 (5), 16476890 (5), 8804362 (4), 1479602 (4) (see all 99)
    ectopia lentis 94.5 34 16476890 (3), 15054843 (2), 20021881 (2), 7802039 (2) (see all 22)
    arachnodactyly 93.2 20 17345643 (2), 7870075 (2), 8307578 (1), 12144083 (1) (see all 13)
    ectopia lentis, isolated 90.3 8 16765689 (3), 18615205 (1), 14718307 (1), 10633129 (1) (see all 5)
    heritable connective tissue disorder 87.8 10 8750301 (1), 8594563 (1), 8894692 (1), 9016526 (1) (see all 7)
    connective tissue diseases 85.7 65 10464652 (2), 7860770 (1), 7622614 (1), 8541880 (1) (see all 50)
    aortic aneurysm thoracic 67.5 9 8941093 (4), 9723636 (1), 10670197 (1), 11826022 (1) (see all 5)
    solar elastosis 67.3 4 1689758 (1), 10417681 (1), 8040608 (1), 8881336 (1)
    aortic dissection 66.8 6 20082464 (2), 15678071 (1), 16181034 (1), 18353575 (1) (see all 5)
    mitral valve prolapse 66.1 6 19199346 (1), 14759433 (1), 20189150 (1), 9837823 (1) (see all 5)

    GeneTests: FBN1
    GeneReviews: FBN1
    Genetic Association Database (GAD): FBN1
    Human Genome Epidemiology (HuGE) Navigator: FBN1 (41 documents)

    Export disorders for FBN1 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 FBN1 gene, integrated from 9 sources (see all 671):
    (articles sorted by number of sources associating them with FBN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. (PubMed id 11700157)1, 2, 4, 9 Loeys B.... De Paepe A. (2001)
    2. In frame fibrillin-1 gene deletion in autosomal dominant Weill- Marchesani syndrome. (PubMed id 12525539)1, 2, 3 Faivre L....Cormier-Daire V. (2003)
    3. Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene. (PubMed id 8882780)1, 2, 4 Putnam E.A....Milewicz D.M. (1996)
    4. Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. (PubMed id 19293843)1, 4, 9 Stheneur C....Boileau C. (2009)
    5. Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation? (PubMed id 17418587)1, 4, 9 Waldmuller S....Scheffold T. (2007)
    6. A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. (PubMed id 7738200)1, 2, 9 Milewicz D.M....Jewett T. (1995)
    7. Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains. (PubMed id 1301946)1, 2, 9 Dietz H.C.... Francomano C.A. (1992)
    8. Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. (PubMed id 16220557)1, 2, 9 Rommel K.... Arslan-Kirchner M. (2005)
    9. Association between fibrillin-1 gene exon 15 and 27 polymorphisms and risk of mitral valve prolapse. (PubMed id 12918850)1, 4, 9 Chou H.T....Tsai F.J. (2003)
    10. Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. (PubMed id 11826022)1, 2, 9 Koerkkoe J.... Ala-Kokko L. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 2200 HGNC: 3603 AceView: FBN1 Ensembl:ENSG00000166147 euGenes: HUgn2200
    ECgene: FBN1 H-InvDB: FBN1

    (According to HUGE)
    About This Section
      --

    (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 FBN1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FBN1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FBN1 gene:
    Search GeneIP for patents involving FBN1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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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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