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FBLN5 Gene

protein-coding   GIFtS: 67
GCID: GC14M092335

Fibulin 5

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Fibulin 51 2     ADCL22 5
Developmental Arteries And Neural Crest EGF-Like Protein2 3     ARCL1A2 5
Urine P50 Protein2 3     ARMD32 5
DANCE2 3     EVEC2
FIBL-52 3     fibulin-52
UP502 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FBLN5 Gene:
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)

GeneCards Summary for FBLN5 Gene:
FBLN5 (fibulin 5) is a protein-coding gene. Diseases associated with FBLN5 include cutis laxa, autosomal recessive, type ia, and hereditary sensorimotor neuropathy with hyperelastic skin. GO annotations related to this gene include integrin binding and calcium ion binding. An important paralog of this gene is LTBP3.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   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 Chromatin IP Primers for FBLN5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: FBLN5_HUMAN, Q9UBX5 (See protein sequence)
Recommended Name: Fibulin-5 precursor  
Size: 448 amino acids; 50180 Da
Subunit: Homodimer
Secondary accessions: O75966 Q6IAL4 Q6UWA3

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

Explore proteomics data for FBLN5 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn283, Asn296

  • See FBLN5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006320.2  
    ENSEMBL proteins: 
     ENSP00000267620   ENSP00000345008   ENSP00000451982   ENSP00000450719   ENSP00000451002  
     ENSP00000451486   ENSP00000450787  
    Reactome Protein details: Q9UBX5

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FBLN: Fibulins

    Selected InterPro protein domains (see all 7):
     IPR000742 EG-like_dom
     IPR026823 cEGF
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS
     IPR001881 EGF-like_Ca-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q9UBX5

    ProtoNet protein and cluster: Q9UBX5

    2 Blocks protein domains:
    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


    FBLN5 for domains           About GeneDecksing


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

         UniProtKB/Swiss-Prot Summary: 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:    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 IPI17581631
    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: Let us create your new Knockout/Knockin mouse model for FBLN5
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    miRNA
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    miRTarBase miRNAs that target FBLN5:
    hsa-mir-335-5p (MIRT018518), hsa-mir-26b-5p (MIRT029864), hsa-mir-200c-3p (MIRT006770)

    Block miRNA regulation of human, mouse, rat FBLN5 using miScript Target Protectors
    Selected qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat FBLN5

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBLN5


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FBLN5_HUMAN, Q9UBX5: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol3

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix TAS10428823
    GO:0005615extracellular space IDA--
    GO:0005737cytoplasm ----
    GO:0016020membrane ----

    FBLN5 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for FBLN5 About    
    See pathways by source

    SuperPathContained pathways About
    1Elastic fibre formation
    Elastic fibre formation0.73
    Molecules associated with elastic fibres0.73
    2Degradation of the extracellular matrix
    Extracellular matrix organization0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for FBLN5
        Molecules associated with elastic fibres
    Elastic fibre formation



    FBLN5 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FBLN5
    Interactions:

        GeneGlobe Interaction Network for FBLN5

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

    Selected Interacting proteins for FBLN5 (Q9UBX51, 2, 3 ENSP000003450084) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LTBP2Q147671, 2, 3, ENSP000002619784EBI-947897,EBI-1546118 MINT-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): Selected biological process terms (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 TAS--
    GO:0034394protein localization to cell surface ISS--

    FBLN5 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for FBLN5

    1 Novoseek inferred 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)



    FBLN5 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for 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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    Selected qRT-PCR 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
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      QuantiTect SYBR Green Assays in human, mouse, rat FBLN5
      QuantiFast Probe-based Assays in human, mouse, rat FBLN5

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 316):

    AA300630 AI468819 BP373622 AA385728 AA705154 AI086653 AL110148 NM_006329 
    CN480990 BM970136 BQ718885 CR615971 AW183044 BQ772930 AI215116 AA605252 
    AW629269 BU687471 AA373665 AI833190 BM974454 BM984933 BM970551 AI796573 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    FBLN5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTATGTTCTG
    FBLN5 Expression
    About this image


    FBLN5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 21) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 10 entries
             Intervertebral Disc Annulus Fibrosus Cells Annulus Fibrosus
             HyStem+BMP4-induced 4D20.8 cells
     
     Bone (Muscoskeletal System)    fully expand to see all 10 entries
             HyStem+BMP4-induced 4D20.8 cells
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Endothelial Cells Blood Brain Barrier
             Oligodendrocyte-like cells
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    FBLN5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FBLN5 Protein Expression

    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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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBLN5

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for FBLN5 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fbln51 , 5 fibulin 51, 5 89.36(n)1
    94.2(a)1
      12 (51.29 cM)5
    238761  NM_011812.41  NP_035942.11 
     1017465655 
    chicken
    (Gallus gallus)
    Aves FBLN51 fibulin 5 77.55(n)
    84.23(a)
      423413  NM_001277474.1  NP_001264403.1 
    lizard
    (Anolis carolinensis)
    Reptilia FBLN56
    fibulin 5
    81(a)
    1 ↔ 1
    1(11729219-11792694)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fbln51 fibulin 5 73.03(n)
    74.71(a)
      595007  NM_001030448.1  NP_001025619.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fbln51 fibulin 5 64.85(n)
    65.08(a)
      449806  NM_001005979.1  NP_001005979.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG319996
    --
    17(a)
    1 → many
    4(235635-246582)
    worm
    (Caenorhabditis elegans)
    Secernentea fbl-16
    Protein FBL-1, isoform a (fbl-1) mRNA, complete cd...
    21(a)
    1 → many
    IV(9540808-9546250) WBGene00001403


    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)
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    Paralogs for FBLN5 gene
    LTBP32  HMCN12  SCUBE32  MEGF62  EFEMP12  LTBP42  SCUBE12  EFEMP22  
    LTBP22  LTBP12  HMCN22  FBLN22  FBLN12  SCUBE22  
    Selected 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    RBP7
    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, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FBLN5 (see all 1819)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289390731,2,,4
    CMacular degeneration, age-related, 3 (ARMD3)4 pathogenic173333394(-) TGTACC/TGGGAC 2 R W mis11Minor allele frequency- T:0.00NA 4552
    rs289393701,2,,4
    CCutis laxa, autosomal recessive, 1A (ARCL1A)4 pathogenic173343018(-) ACGGCC/TCTTTC 2 P S mis10--------
    rs289393721,2,4
    Macular degeneration, age-related, 3 (ARMD3)4--see VAR_0198152 mis40--------
    VAR_0198204
    Macular degeneration, age-related, 3 (ARMD3)4--see VAR_0198202 G E mis40--------
    rs289393731,2,4
    Macular degeneration, age-related, 3 (ARMD3)4--see VAR_0198162 mis40--------
    VAR_0198194
    Macular degeneration, age-related, 3 (ARMD3)4--see VAR_0198192 A T mis40--------
    rs289393711,2,4
    Macular degeneration, age-related, 3 (ARMD3)4--see VAR_0198142 mis40--------
    rs18024921,2,,4
    Cnon-pathogenic173333355(-) CCGCTG/TACATC 2 D Y mis12Minor allele frequency- T:0.00NA 4
    rs803387651,2
    Cpathogenic173347001(-) AGGATA/GGAAGG 2 R G mis10--------
    rs1214342991,2
    Cpathogenic173392906(-) TGTGTC/GTTAAC 2 L V mis10--------

    HapMap Linkage Disequilibrium report for FBLN5 (92335755 - 92414331 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for FBLN5:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv275270CNV Loss21479260
    nsv523266CNV Loss19592680

    Human Gene Mutation Database (HGMD): FBLN5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FBLN5
    DNA2.0 Custom Variant and Variant Library Synthesis for FBLN5

    (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.)
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    OMIM gene information: 604580   
    OMIM disorders: 219100  614434  608895  
    UniProtKB/Swiss-Prot: FBLN5_HUMAN, Q9UBX5
  • Cutis laxa, autosomal dominant, 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Cutis laxa, autosomal recessive, 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. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Macular degeneration, age-related, 3 (ARMD3) [MIM:608895]: A form of age-related macular degeneration, a
    multifactorial eye 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
    that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch
    membrane. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry

  • Selected diseases for FBLN5 (see all 45):    
    About MalaCards
    cutis laxa, autosomal recessive, type ia    hereditary sensorimotor neuropathy with hyperelastic skin    cutis laxa, autosomal dominant    mid-dermal elastolysis
    fbln5-related cutis laxa    cutis laxa    age-related macular degeneration 3    cutis laxa, autosomal dominant 2
    acquired cutis laxa    macrocephaly, alopecia, cutis laxa, and scoliosis    cutis laxa, ad    lymph node tuberculosis
    age related macular degeneration    supravalvular aortic stenosis    costello syndrome    spontaneous pneumothorax
    portal hypertension    pneumothorax    connective tissue disease    bronchiectasis

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

    FBLN5 for disorders           About GeneDecksing

    4 Novoseek inferred 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
    GeneReviews: FBLN5
    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

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    PubMed articles for FBLN5 gene, integrated from 10 sources (see all 105):
    (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. (N. Engl. J. Med. 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. (J. Biol. Chem. 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. (Hum. Mol. Genet. 2002)
    4. Fibulin 5 forms a compact dimer in physiological solutions. (PubMed id 19617354)1, 2, 9 Jones R.P....Trump D. (J. Biol. Chem. 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. (Am. J. Hum. Genet. 2003)
    6. Common polymorphisms of Fibulin-5 and the risk of abdominal aortic aneurysm development. (PubMed id 20133342)1, 4, 9 Badger S.A....Hughes A.E. (Vasc Med 2010)
    7. 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. (Cytogenet. Cell Genet. 1999)
    8. 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. (J. Invest. Dermatol. 2006)
    9. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)
    10. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PubMed id 20546612)1, 4 Zhao J....Grant S.F. (BMC Med. Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 10516 HGNC: 3602 AceView: FBLN5 Ensembl:ENSG00000140092 euGenes: HUgn10516
    ECgene: FBLN5 H-InvDB: FBLN5

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FBLN5 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=FBLN5[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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