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

FBLN2 Gene

protein-coding   GIFtS: 68
GCID: GC03P013565

Fibulin 2

  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
Fibulin 21 2
FIBL-22 3
fibulin-22

External Ids:    HGNC: 36011   Entrez Gene: 21992   Ensembl: ENSG000001635207   OMIM: 1358215   UniProtKB: P980953   

Export aliases for FBLN2 gene to outside databases

Previous GC identifer: GC03P013541


(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 FBLN2 Gene:
This gene encodes an extracellular matrix protein, which belongs to the fibulin family. This protein binds various
extracellular ligands and calcium. It may play a role during organ development, in particular, during the
differentiation of heart, skeletal and neuronal structures. Alternatively spliced transcript variants encoding
different isoforms have been identified. (provided by RefSeq, Jul 2008)

GeneCards Summary for FBLN2 Gene: 
FBLN2 (fibulin 2) is a protein-coding gene. Diseases associated with FBLN2 include osteochondritis dissecans, and marfan syndrome, and among its related super-pathways are Molecules associated with elastic fibres and Cell adhesion Cell-matrix glycoconjugates. GO annotations related to this gene include extracellular matrix binding and calcium ion binding. An important paralog of this gene is LTBP3.

UniProtKB/Swiss-Prot: FBLN2_HUMAN, P98095
Function: Its binding to fibronectin and some other ligands is calcium dependent

Gene Wiki entry for FBLN2 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_000003.11  NT_022517.18  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FBLN2 gene promoter:
         ER-alpha   AML1a   HSF1 (long)   GATA-1   AREB6   Ik-2   deltaCREB   HOXA5   HSF1short   ZIC2/Zic2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFBLN2 promoter sequence
   Search SABiosciences Chromatin IP Primers for FBLN2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FBLN2


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

Entrez Gene cytogenetic band: 3p25.1   Ensembl cytogenetic band:  3p25.1   HGNC cytogenetic band: 3p25-p24

FBLN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBLN2 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P013565:  view genomic region     (about GC identifiers)

Start:
13,573,824 bp from pter      End:
13,679,922 bp from pter
Size:
106,099 bases      Orientation:
plus 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: FBLN2_HUMAN, P98095 (See protein sequence)
Recommended Name: Fibulin-2 precursor  
Size: 1184 amino acids; 126573 Da
Subunit: Homotrimer; disulfide-linked. Interacts with LAMA2 (By similarity)
Subcellular location: Secreted, extracellular space, extracellular matrix
Developmental stage: Widely expressed during embryonic development. Primarily detected within the neuropithelium,
spinal ganglia and peripheral nerves
Secondary accessions: B7Z9C5 Q8IUI0 Q8IUI1
Alternative splicing: 2 isoforms:  P98095-1   P98095-2   

Explore the universe of human proteins at neXtProt for FBLN2: NX_P98095

Explore proteomics data for FBLN2 at MOPED 

Post-translational modifications:

  • UniProtKB: O-glycosylated with core 1 or possibly core 8 glycans. It is unsure if the O-glycosylation is on Thr-347 or
    Ser-348
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P98095

  • FBLN2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FBLN2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001004019.1  NP_001158507.1  NP_001989.2  

    ENSEMBL proteins: 
     ENSP00000384169   ENSP00000295760   ENSP00000420164   ENSP00000420042   ENSP00000295761  
     ENSP00000399224   ENSP00000445705  
    Reactome Protein details: P98095
    Human Recombinant Protein Products for FBLN2: 
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    Cloud-Clone Corp. Proteins for FBLN2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0031012colocalizes with extracellular matrix ISS--

    FBLN2 for ontologies           About GeneDecksing



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

    5/7 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

    Graphical View of Domain Structure for InterPro Entry P98095

    ProtoNet protein and cluster: P98095

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


    UniProtKB/Swiss-Prot: FBLN2_HUMAN, P98095
    Similarity: Belongs to the fibulin family
    Similarity: Contains 3 anaphylatoxin-like domains
    Similarity: Contains 10 EGF-like domains


    FBLN2 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: FBLN2_HUMAN, P98095
    Function: Its binding to fibronectin and some other ligands is calcium dependent

         Genatlas biochemistry entry for FBLN2:
    fibulin 2,calcium binding,extracellular matrix protein,expressed in heart tissue,located in the embryonic
    endocardial cushion tissue and predominantly in the valves,also expressed in skin,perichondrium,elastic intima of
    blood vessels and kidney glomerulus and colocalizing with FBN1 in these tissues with different variants

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent TAS7806230
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
    GO:0050840extracellular matrix binding IEA--
         
    FBLN2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for FBLN2:
     Cell cycle / mitosis defect 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Fbln2):
     cardiovascular system 

    FBLN2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Fbln2tm1Chu for FBLN2

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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidFBLN2 3' UTR sequence
    Inhib. RNA
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    (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 FBLN2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Elastic fibre formation
    Molecules associated with elastic fibres0.84
    Elastic fibre formation0.84
    2Cell adhesion Cell-matrix glycoconjugates
    Cell adhesion Cell-matrix glycoconjugates0.97
    3Collagen biosynthesis and modifying enzymes
    Extracellular matrix organization0.39

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for FBLN2
        Cell adhesion Cell-matrix glycoconjugates


    1 GeneGo (Thomson Reuters) Pathway for FBLN2
        Cell adhesion Cell-matrix glycoconjugates

    3        Reactome Pathways for FBLN2
        Molecules associated with elastic fibres
    Extracellular matrix organization
    Elastic fibre formation



    FBLN2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FBLN2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/28 Interacting proteins for FBLN2 (P980952, 3 ENSP000003841694) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATN1P542592, 3, ENSP000003490764MINT-2858818 I2D: score=3 STRING: ENSP00000349076
    FN1P027513, ENSP000003468394I2D: score=3 STRING: ENSP00000346839
    LAMA5O152303, ENSP000002529994I2D: score=3 STRING: ENSP00000252999
    NID1P145433, ENSP000002641874I2D: score=3 STRING: ENSP00000264187
    LAMA1P253913, ENSP000003743094I2D: score=2 STRING: ENSP00000374309
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010811positive regulation of cell-substrate adhesion IEA--
    GO:0030198extracellular matrix organization TAS--

    FBLN2 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

    FBLN2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for FBLN2

    1 HMDB Compound for FBLN2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    4 Novoseek inferred chemical compound relationships for FBLN2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neurocan 68.5 1 11038354 (1)
    heparin 34.3 6 9431988 (1), 10934193 (1), 11733994 (1), 10092882 (1) (see all 6)
    calcium 5.63 3 8737292 (1), 9299350 (1), 8245130 (1)
    fibrinogen 2.85 1 7543056 (1)

    Search CenterWatch for drugs/clinical trials and news about FBLN2

    (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 FBLN2 gene (3 alternative transcripts): 
    NM_001004019.1  NM_001165035.1  NM_001998.2  

    Unigene Cluster for FBLN2:

    Fibulin 2
    Hs.198862  [show with all ESTs]
    Unigene Representative Sequence: NM_001165035
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000404922(uc011ava.2 uc011avb.2 uc011avc.2) ENST00000295760(uc011auz.2)
    ENST00000465610 ENST00000492059 ENST00000477845 ENST00000295761 ENST00000421373
    ENST00000535798
    miRNA
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    hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-545 hsa-miR-4323 hsa-miR-3662 hsa-miR-32* hsa-miR-27b
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    Additional mRNA sequence: 

    AK129883.1 AK300913.1 AK304777.1 AK304827.1 AL050095.1 AL080171.1 AY130459.1 BC051690.1 
    X82494.1 

    6 DOTS entries:

    DT.91905714  DT.454137  DT.100654133  DT.100792594  DT.120883977  DT.100703619 

    24/208 AceView cDNA sequences (see all 208):

    BU931668 AI193253 NM_001998 BU556734 BM746486 BU846307 AI379322 BU844464 
    BU855098 BU859521 AA451985 BU553532 BM673717 BP344809 AI246349 BG680961 
    BU855789 AI354814 BM784974 BU556575 CR624008 CD515030 BG012914 NM_001004019 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for FBLN2    About this scheme

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


    ECgene alternative splicing isoforms for FBLN2

    (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

    FBLN2 expression in normal human tissues (normalized intensities)      FBLN2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACATTATAA
    FBLN2 Expression
    About this image


    FBLN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/28 selected tissues (see all 28) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 10 entries
             Mesenchymal Condensate Cells Stylopod
             Endochondral Facial Bones
             sensory organ/ear/inner ear   
     
     Heart (Cardiovascular System)    fully expand to see all 8 entries
             Subepicardial Cells Epicardium
             Coronary Vessels
             Human Cardiac Myocytes-adult (HCM-a)   
             heart/valve   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 8 entries
             Mesenchymal Condensate Cells Stylopod
             sensory organ/nose/nasal septum   
     
     Fibroblast
             X-gene Foreskin Fibroblasts   
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 4 entries
             skeleton/cranium/chondrocranium   

    See FBLN2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FBLN2

    SOURCE GeneReport for Unigene cluster: Hs.198862

    UniProtKB/Swiss-Prot: FBLN2_HUMAN, P98095
    Tissue specificity: Component of both basement membranes and other connective tissues. Expressed in heart,
    placenta and ovary

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBLN2

    (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 FBLN2 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fbln21 , 5 fibulin 21, 5 82.15(n)1
    83.14(a)1
      6 (40.42 cM)5
    141151  NM_007992.21  NP_032018.21 
     912124555 
    chicken
    (Gallus gallus)
    Aves FBLN21 fibulin 2 63.64(n)
    61.32(a)
      427583  XM_425156.3  XP_425156.3 
    lizard
    (Anolis carolinensis)
    Reptilia FBLN26
    fibulin 2
    55(a)
    1 ↔ 1
    GL343225.1(167222-375803)
    zebrafish
    (Danio rerio)
    Actinopterygii fbln21 fibulin 2 59.42(n)
    54.26(a)
      553503  XM_001341241.1  XP_001341277.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG319991 CG31999 44.89(n)
    37.12(a)
      43777  NM_166745.2  NP_726551.2 


    ENSEMBL Gene Tree for FBLN2 (if available)
    TreeFam Gene Tree for FBLN2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FBLN2 gene
    LTBP32  HMCN12  FBN22  MEGF62  FBN32  FBLN52  LTBP42  EFEMP12  
    LTBP22  LTBP12  FBN12  SCUBE32  EFEMP22  SCUBE12  FBLN72  HMCN22  
    FBLN12  SCUBE22  
    18/25 SIMAP similar genes for FBLN2 using alignment to 7 protein entries:     FBLN2_HUMAN (see all proteins) (see all similar genes):
    DKFZp586A1519    LTBP1    LDLR    PROS1    NELL1    EFEMP2
    FBN3    FBN2    MBP1    LTBP3    LTBP2    UMOD
    SCUBE2    FBLN1    EMR1    MATN2    EFEMP1    HMCN1

    FBLN2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2260 SNPs in FBLN2 are shown (see all 2260)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1850297261,2
    --13588649(+) TCTATA/CACCCC 2 -- us2k10--------
    rs98199171,2
    C,H--13588698(+) CAATCT/CGTCAT 2 -- us2k15Minor allele frequency- C:0.00NS EA CSA 422
    rs1118530481,2
    F--13588734(+) CTCCCT/GTGGGT 2 -- us2k11Minor allele frequency- G:0.03NS 496
    rs792512891,2
    F--13588799(+) TTTTTT/CGAATT 2 -- us2k11Minor allele frequency- C:0.02WA 118
    rs1114568161,2
    C,F--13588826(+) TGGTAC/TACACC 2 -- us2k12Minor allele frequency- T:0.02NS WA 630
    rs778799351,2
    C--13588862(+) CAGGCA/GATCAT 2 -- us2k13Minor allele frequency- G:0.17NA NS 634
    rs1886863481,2
    --13588894(+) AGTATG/TCAATG 2 -- us2k10--------
    rs1138243601,2
    F--13588969(+) CGTAGG/CCTAGT 2 -- us2k11Minor allele frequency- C:0.01NS 514
    rs1112818021,2
    C,F--13588971(+) TAGGCT/CAGTAA 2 -- us2k11Minor allele frequency- C:0.01NS 514
    rs1130312861,2
    C,F--13589133(+) CTTTCG/AGTTTG 2 -- us2k12Minor allele frequency- A:0.02NS WA 636

    HapMap Linkage Disequilibrium report for FBLN2 (13573824 - 13679922 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/14 variations for FBLN2 (see all 14):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1004545CNV Deletion20482838
    esv2724942CNV Deletion23290073
    esv1004489CNV Deletion20482838
    nsv3708CNV Insertion18451855
    nsv3707CNV Insertion18451855
    nsv526900CNV Loss19592680
    nsv876550CNV Loss21882294
    nsv876567CNV Loss21882294
    nsv876552CNV Loss21882294
    nsv470416CNV Loss18288195


    Human Gene Mutation Database (HGMD): FBLN2
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing FBLN2
    DNA2.0 Custom Variant and Variant Library Synthesis for FBLN2

    (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: 135821    OMIM disorders: --

    20 diseases for FBLN2:    About MalaCards
    osteochondritis dissecans    marfan syndrome    atrioventricular septal defect    cutis laxa
    abdominal aortic aneurysm    aortic aneurysm    thrombosis    glaucoma
    esophageal squamous cell carcinoma    acute lymphoblastic leukemia    lymphoblastic leukemia    liver disease
    nasopharyngitis    multiple sclerosis    esophagitis    squamous cell carcinoma
    cervicitis    neuronitis    leukemia    breast cancer


    FBLN2 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for FBLN2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    solar elastosis 69 3 11531782 (3)
    tumors 0 1 8245130 (1)

    Genetic Association Database (GAD): FBLN2
    Human Genome Epidemiology (HuGE) Navigator: FBLN2 (3 documents)

    Export disorders for FBLN2 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 FBLN2 gene, integrated from 9 sources (see all 80):
    (articles sorted by number of sources associating them with FBLN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Fibulin-2 (FBLN2): human cDNA sequence, mRNA expression, and mapping of the gene on human and mouse chromosomes. (PubMed id 7806230)1, 2, 3, 9 Zhang R.-Z....Chu M.-L. (1994)
    2. The extracellular matrix proteins fibulin-1 and fibulin-2 in the early human embryo. (PubMed id 8737292)1, 2, 9 Miosge N.... Herken R. (1996)
    3. Human Variation in Alcohol Response Is Influenced by Variation in Neuronal Signaling Genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (2010)
    4. Sequential use of transcriptional profiling, expressi on quantitative trait mapping, and gene association implicates MMP20 in human k idney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (2009)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Association of extracellular matrix proteins fibulin-1 and fibulin-2 with fibronectin in bone marrow stroma. (PubMed id 10848816)1, 9 Gu Y.C....Ekblom M. (2000)
    7. Confocal laser scanning analysis of the association of fibulin-2 with fibrillin-1 and fibronectin define different stages of skin regeneration. (PubMed id 9886271)1, 9 Raghunath M....Timpl R. (1999)
    8. Structure and expression of fibulin-2, a novel extracellular matrix protein with multiple EGF-like repeats and consensus motifs for calcium binding. (PubMed id 8245130)1, 9 Pan T.C....Chu M.L. (1993)
    9. Increased deposition of fibulin-2 in solar elastosis and its colocalization with elastic fibres. (PubMed id 11531782)1, 9 Hunzelmann N....Krieg T. (2001)
    10. Fibrillin-1 and fibulin-2 interact and are colocalized in some tissues. (PubMed id 8702639)1, 9 Reinhardt D.P....Sakai L.Y. (1996)

    (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: 2199 HGNC: 3601 AceView: FBLN2 Ensembl:ENSG00000163520 euGenes: HUgn2199
    ECgene: FBLN2 H-InvDB: FBLN2

    (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 FBLN2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FBLN2 gene:
    Search GeneIP for patents involving FBLN2

    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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