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

FBLN5 Gene

protein-coding   GIFtS: 66
GCID: GC14M092335

fibulin 5

 Explore 27 diseases affiliated with
FBLN5 via our new
 Human Malady Compendium 
Biological research products
for FBLN5
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Fibulin 51 2     Urine P50 Protein2 3
DANCE1 2 3     FIBL-52 3
UP501 2 3     ADCL22
ARMD31 2 5     ARCL1A2
EVEC1 2     Fibulin-51
Developmental Arteries And Neural Crest EGF-Like Protein2 3     Dance3

External Ids:    HGNC: 36021   Entrez Gene: 105162   Ensembl: ENSG000001400927   OMIM: 6045805   UniProtKB: Q9UBX53   

Export aliases for FBLN5 gene to outside databases

Previous GC identifers: GC14M089841 GC14M086151 GC14M090325 GC14M091405 GC14M072518


(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 FBLN5:
The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and
calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the
RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is
reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and
endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling.
Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I),
and age-related macular degeneration type 3 (ARMD3). (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: FBLN5_HUMAN, Q9UBX5
Function: Promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Could be a
vascular ligand for integrin receptors and may play a role in vascular development and remodeling

Gene Wiki entry for FBLN5


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FBLN5 gene promoter:
         E2F-4   E2F-3a   E2F-5   AP-1   ATF-2   E2F-2   AREB6   E2F   E2F-1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFBLN5 promoter sequence
   Search SABiosciences Chromatin IP Primers for FBLN5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FBLN5


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

Entrez Gene cytogenetic band: 14q32.1   Ensembl cytogenetic band:  14q32.12   HGNC cytogenetic band: 14q31

FBLN5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBLN5 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M092335:  view genomic region     (about GC identifiers)

Start:
92,335,755 bp from pter      End:
92,414,331 bp from pter
Size:
78,577 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FBLN5_HUMAN, Q9UBX5 (See protein sequence)
Recommended Name: Fibulin-5 precursor  
Size: 448 amino acids; 50180 Da
Subunit: Homodimer
Subcellular location: Secreted
Secondary accessions: O75966 Q6IAL4 Q6UWA3

Explore the universe of human proteins at neXtProt for FBLN5: NX_Q9UBX5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UBX5

  • FBLN5 Protein expression data from MOPED and PaxDb:    About this image 
    FBLN5 Protein Expression
    REFSEQ proteins: NP_006320.2  
    ENSEMBL proteins: 
     ENSP00000267620   ENSP00000345008   ENSP00000451982   ENSP00000450719   ENSP00000451002  
     ENSP00000451486   ENSP00000450787  
    Reactome Protein details: Q9UBX5
    Human Recombinant Protein Products for FBLN5: 
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    Novus Biologicals FBLN5 Lysate
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for FBLN5

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix TAS10428823
    GO:0005615extracellular space IDA--
    GO:0005625soluble fraction ----
    GO:0005737cytoplasm IDA--
    GO:0016020membrane ----

    FBLN5 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for FBLN5


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    FBLN5 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR000742 EG-like_dom
     IPR026823 cEGF
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS
     IPR001881 EGF-like_Ca-bd

    Graphical View of Domain Structure for InterPro Entry Q9UBX5

    ProtoNet protein and cluster: Q9UBX5

    2 Blocks protein families:
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB001881 EGF-like calcium-binding


    UniProtKB/Swiss-Prot: FBLN5_HUMAN, Q9UBX5
    Similarity: Belongs to the fibulin family
    Similarity: Contains 6 EGF-like domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FBLN5_HUMAN, Q9UBX5
    Function: Promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Could be a
    vascular ligand for integrin receptors and may play a role in vascular development and remodeling

         Genatlas biochemistry entry for FBLN5:
    fibulin 5,calcium binding,expressed and up-regulated in the developing and disease adult arterial vasculature

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888transmembrane signaling receptor activity ----
    GO:0005178integrin binding TAS10428823
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI19570982
    GO:0008022protein C-terminus binding IPI15528465
         
    FBLN5 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for FBLN5:
     Decreased viability with pacli  Increased gamma-H2AX phosphory 

         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Fbln5):
     cardiovascular system  cellular  craniofacial  homeostasis/metabolism  integument 
     muscle  respiratory system  tumorigenesis 

    FBLN5 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for FBLN5 

    miRNA
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    OriGene 3'-UTR Clone: FBLN5
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    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate FBLN5 (see all 12):
    hsa-miR-3671 hsa-miR-4291 hsa-miR-922 hsa-miR-3614-3p hsa-miR-513a-5p hsa-miR-27a hsa-miR-128 hsa-miR-3681*
    SwitchGear 3'UTR luciferase reporter plasmidFBLN5 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FBLN5 (see all 7)
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBLN5


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Elastic fibre formation
    Elastic fibre formation1.00
    Molecules associated with elastic fibres0.84
    2Collagen formation
    Extracellular matrix organization0.54

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3        Reactome Pathways for FBLN5
        Molecules associated with elastic fibres
    Extracellular matrix organization
    Elastic fibre formation



    FBLN5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FBLN5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/19 Interacting proteins for FBLN5 (Q9UBX51, 2, 3 ENSP000003450084) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LTBP2Q147672, 3, ENSP000002619784MINT-5115605 MINT-5115583 I2D: score=2 STRING: ENSP00000261978
    GFI1BQ5VTD92, 3, ENSP000003447824MINT-2868452 I2D: score=3 STRING: ENSP00000344782
    ATN1P542592, 3, ENSP000003490764MINT-2868433 MINT-2868414 I2D: score=3 STRING: ENSP00000349076
    LOXL1Q083973, ENSP000002619214I2D: score=2 STRING: ENSP00000261921
    LPAP085193, ENSP000003213344I2D: score=1 STRING: ENSP00000321334
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001558regulation of cell growth IEA--
    GO:0007160cell-matrix adhesion TAS10428823
    GO:0007596blood coagulation ----
    GO:0030198extracellular matrix organization ----
    GO:0034394protein localization to cell surface ISS--

    FBLN5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    FBLN5 for compounds           About GeneDecksing

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

    Browse Tocris compounds for FBLN5
    1 Novoseek chemical compound relationship for FBLN5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vegf 0 3 15231070 (3)

    Search CenterWatch for drugs/clinical trials and news about FBLN5 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FBLN5 gene: 
    NM_006329.3  

    Unigene Cluster for FBLN5:

    Fibulin 5
    Hs.332708  [show with all ESTs]
    Unigene Representative Sequence: BX537531
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000556961(uc001xzw.3) ENST00000267620(uc010aud.3 uc001xzx.4 uc010aue.3)
    ENST00000342058 ENST00000556154 ENST00000554121 ENST00000557088 ENST00000557462
    ENST00000554468 ENST00000557570

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FBLN5
    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate FBLN5 (see all 12):
    hsa-miR-3671 hsa-miR-4291 hsa-miR-922 hsa-miR-3614-3p hsa-miR-513a-5p hsa-miR-27a hsa-miR-128 hsa-miR-3681*
    SwitchGear 3'UTR luciferase reporter plasmidFBLN5 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AF093118.1 AF112152.1 AJ133490.1 AK074540.1 AK075147.1 AK094032.1 AK125600.1 AK307592.1 
    AL110148.1 AY358898.1 BC022280.1 BX248290.1 BX537531.1 CR457140.1 

    22 DOTS entries:

    DT.101956801  DT.448201  DT.97838719  DT.100833145  DT.100811307  DT.100678061  DT.100811302  DT.120761189 
    DT.95278027  DT.99971149  DT.100026316  DT.120761247  DT.95278026  DT.120761239  DT.120761224  DT.120761227 
    DT.120761234  DT.100708071  DT.100835411  DT.120761213  DT.40294682  DT.120761238 

    24/316 AceView cDNA sequences (see all 316):

    BM544363 BM970136 NM_006329 BQ723059 BQ716569 BC022280 AA385728 BX641994 
    AK075147 AA605252 AI656035 AI796573 AI834283 CA397139 AA298909 BP377490 
    CD172152 BM666348 AI086653 CR604352 BQ772930 F08964 AI215116 AW183044 

    GeneLoc Exon Structure

    5/14 Alternative Splicing Database (ASD) splice patterns (SP) for FBLN5 (see all 14)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11a · 11b ^
    SP1:                                                        -           -     -                 -     -     -                                                   
    SP2:                                                        -           -     -                 -     -                                                         
    SP3:                                                        -           -     -                             -                                                   
    SP4:                                                                    -     -                 -     -     -                                                   
    SP5:                                                                                                        -                                                   

    ExUns: 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b
    SP1:                          -           -               
    SP2:                                                      
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for FBLN5

    (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

    FBLN5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTATGTTCTG
    FBLN5 Expression
    About this image

    FBLN5 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    10/17 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 17
    Tissue Anatomical Compartment CellCategory (developmental path)
    CartilageCervical Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageLumbar Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageSacral Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageThoracic Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    Head MesenchymeBranchial Arch 1Cranial Neural Crest CellsNeural Crest
    OvaryAntral FollicleCumulus CellsOvary
    Skeletal MuscleHyoid Arch MusclesMyoblastsSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMyoblastsSkeletal Muscle
    BoneRostral Endochondral Facial BonesBone
    BoneRostral Skull Membranous BonesBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/12 LifeMap Cells (see all 12
    NameCategory
    PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)Heart, Myocardium, Smooth Muscle
    PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    Trophoblast-like cells (Generation of tropho...)
    Definitive endoderm-like cells (A scalable, suspensi...)
    HyStem+TGF?3+GDF5-induced SK11 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage
    HyStem+TGF?3+GDF5-induced SM30 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage
    HyStem+TGF?3+GDF5-induced 7SMOO32 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage
    TGF?3+BMP7-induced chondrocytes (Chondrogenic HyStem+...)Bone, Cartilage
    HyStem+TGF?3+GDF5-induced 7PEND24 cells (HyStem+TGF?3+GDF5 in...)Bone
    HyStem+TGF?3+GDF5-induced 4D20.8 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage

    See FBLN5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FBLN5

    SOURCE GeneReport for Unigene cluster: Hs.332708

    UniProtKB/Swiss-Prot: FBLN5_HUMAN, Q9UBX5
    Tissue specificity: Expressed predominantly in heart, ovary, and colon but also in kidney, pancreas, testis, lung and
    placenta. Not detectable in brain, liver, thymus, prostate, or peripheral blood leukocytes

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    (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 FBLN5 gene from 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves FBLN51 fibulin 5 77.7(n)
    84.91(a)
      423413  XM_421323.1  XP_421323.1 
    lizard
    (Anolis carolinensis)
    Reptilia FBLN56
    --
    80(a)
    1 ↔ 1
    1(11738683-11792694)
    zebrafish
    (Danio rerio)
    Actinopterygii fbln51 fibulin 5 64.78(n)
    65.61(a)
      449806  NM_001005979.1  NP_001005979.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta frac6
    faulty attraction
    7(a)
    1 → many
    3L(7555710-7562599)
    worm
    (Caenorhabditis elegans)
    Secernentea mup-46
    mua-36
    Transmembrane cell adhesion receptor mua-3
    4(a)
    2(a)
    possible ortholog
    possible ortholog
    III(7479616-7489010)
    III(10160599-10183440)


    ENSEMBL Gene Tree for FBLN5 (if available)
    TreeFam Gene Tree for FBLN5 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FBLN5 gene
    FBN12  LTBP32  SCUBE32  FBN32  FBN22  LTBP42  EFEMP12  SCUBE12  
    EFEMP22  LTBP22  LTBP12  FBLN22  FBLN12  SCUBE22  
    18/28 SIMAP similar genes for FBLN5 using alignment to 7 protein entries:     FBLN5_HUMAN (see all proteins) (see all similar genes):
    SNRPF    COQ5    KIAA1651    pp12301    SH2B3    NCKAP1L
    MBP1    GEMIN6    PFKFB3    EFEMP2    FCER1G    GATC
    PROS1    EFEMP1    C12orf76    MST132    ATF1    TUBA1C

    FBLN5 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1532 NCBI SNPs in FBLN5 are shown (see all 1532    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs18024921,2
    Cnon-pathogenic79292399(-) CCGCTG/TACATC 2 D Y mis12Minor allele frequency- T:0.00NA 4
    rs803387651,2
    Cpathogenic79278851(-) AGGATA/GGAAGG 2 R G mis10--------
    rs289393701,2
    Cpathogenic79282833(-) ACGGCC/TCTTTC 2 P S mis10--------
    rs289390731,2
    Cpathogenic79292360(-) TGTACC/TGGGAC 2 R W mis11Minor allele frequency- T:0.00NA 4552
    rs756802831,2
    F--72516075(+) TCAAAA/GATCCT 1 -- ds50011Minor allele frequency- G:0.07NA 120
    rs766429801,2
    --72516087(+) ATGGCC/TGGGCC 1 -- ds50010--------
    rs101971,2
    H--72516675(+) CTTTCG/AAAGGA 1 -- ut31 ese36Minor allele frequency- A:0.03MN NS EA NA 598
    rs773573451,2
    F--72516699(+) TTTTTT/AAAAAA 1 -- ut311Minor allele frequency- A:0.09WA 118
    rs178047351,2
    C,F,H--72516808(+) CATTCT/CCTAAA 1 -- ut318Minor allele frequency- C:0.01NA NS EA 678
    rs177317051,2
    C--72516899(+) CCGCCA/GGCTCC 1 -- ut313Minor allele frequency- G:0.01NA 136

    HapMap Linkage Disequilibrium report for FBLN5 (92335755 - 92414331 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FBLN5: --
    Human Gene Mutation Database (HGMD): FBLN5

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    FBLN5 for disorders           About GeneDecksing

    OMIM gene information: 604580   
    OMIM disorders: 219100  123700  608895  
    UniProtKB/Swiss-Prot: FBLN5_HUMAN, Q9UBX5
  • Defects in FBLN5 are the cause of cutis laxa, autosomal dominant, type 2 (ADCL2) [MIM:614434]. A connective
  • tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a
    premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable
    clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary
    artery stenosis, aortic aneurysm, bronchiectasis, and emphysema
  • Defects in FBLN5 are a cause of cutis laxa, autosomal recessive, type 1A (ARCL1A) [MIM:219100]. A connective
  • tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a
    premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum
    of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. Type I
    autosomal recessive cutis laxa is a specific, life-threatening disorder with organ involvement, lung atelectasis and
    emphysema, diverticula of the gastrointestinal and genitourinary systems, and vascular anomalies. Associated cranial
    anomalies, late closure of the fontanel, joint laxity, hip dislocation, and inguinal hernia have been observed but are
    uncommon
  • Defects in FBLN5 are the cause of age-related macular degeneration type 3 (ARMD3) [MIM:608895]. ARMD is a
  • multifactorial disease and the most common cause of irreversible vision loss in the developed world. In most patients,
    the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid (known as drusen)
    that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane

    20/27 diseases for FBLN5 (see all 27):    About MalaCards
    cutis laxa    age related macular degeneration    macular degeneration    cutis laxa, autosomal dominant
    lymph node tuberculosis    contractural arachnodactyly    supravalvular aortic stenosis    connective tissue disease
    costello syndrome    portal hypertension    aortic aneurysm    scoliosis
    keloids    alopecia    vaginitis    tuberculosis
    hypertension    ovarian carcinoma    periodontitis    pharyngitis

    2 diseases from the University of Copenhagen DISEASES database for FBLN5:
    Cutis laxa     Age related macular degeneration

    4 Novoseek disease relationships for FBLN5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cutis laxa 92.6 31 12189163 (4), 17035250 (4), 16652333 (3), 12618961 (2) (see all 12)
    drusen 64.3 2 17109857 (1), 16652333 (1)
    aortic stenosis supravalvular 62.4 1 16893474 (1)
    connective tissue diseases 57.1 1 16893474 (1)

    GeneTests: FBLN5
    FBLN5-Related Cutis Laxa

    Genetic Association Database (GAD): FBLN5
    Human Genome Epidemiology (HuGE) Navigator: FBLN5 (8 documents)

    Export disorders for FBLN5 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 FBLN5 gene, integrated from 9 sources (see all 101):
    (articles sorted by number of sources associating them with FBLN5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Missense variations in the fibulin 5 gene and age-related macular degeneration. (PubMed id 15269314)1, 2, 4 Stone E.M.... Sheffield V.C. (2004)
    2. DANCE, a novel secreted RGD protein expressed in developing, atherosclerotic, and balloon-injured arteries. (PubMed id 10428823)1, 2, 9 Nakamura T.... Honjo T. (1999)
    3. Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. (PubMed id 12189163)1, 2, 9 Loeys B.... de Paepe A. (2002)
    4. Fibulin 5 forms a compact dimer in physiological solu tions. (PubMed id 19617354)1, 2, 9 Jones R.P....Trump D. (2009)
    5. Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. (PubMed id 12618961)1, 2, 9 Markova D.... Chu M.-L. (2003)
    6. Assignment of fibulin-5 (FBLN5) to human chromosome 14q31 by in situ hybridization and radiation hybrid mapping. (PubMed id 10640802)1, 3, 9 Kowal R.C....Schultz R.A. (1999)
    7. Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype. (PubMed id 16691202)1, 2, 9 Elahi E.... Loeys B. (2006)
    8. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)

    (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: 10516 HGNC: 3602 AceView: FBLN5 Ensembl:ENSG00000140092 euGenes: HUgn10516
    ECgene: FBLN5 H-InvDB: FBLN5

    (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 FBLN5 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FBLN5

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FBLN5 gene:
    Search GeneIP for patents involving FBLN5

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



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    About This Section

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