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

FBLN2 Gene

protein-coding   GIFtS: 65
GCID: GC03P013565

fibulin 2
 Explore 25 diseases affiliated with
FBLN2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FBLN2    

Aliases
for FBLN2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Fibulin 21 2
FIBL-22 3
Fibulin-21

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


Summaries
for FBLN2 gene

(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:
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)

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

Gene Wiki entry for FBLN2


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_022517.18  
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 plasmid: FBLN2 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

Proteins
for FBLN2 gene

(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: 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

Post-translational modifications:

  • O-glycosylated with core 1 or possibly core 8 glycans. It is unsure if the O-glycosylation is on Thr-347 or Ser-3481
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P98095

    • FBLN2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    Novus Biologicals FBLN2 Proteins
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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 ----
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0031012colocalizes with extracellular matrix ISS--


    FBLN2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for FBLN2

    Protein Domains /
    Families
    for FBLN2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    FBLN2 for domains           About GeneDecksing

    5/7 InterPro domains/families (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 families:
    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


    Function
    for FBLN2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
    Products:            		miRTarBase miRNAs that target FBLN2:
    hsa-mir-1 (MIRT002753)

    OriGene 3'-UTR Clone (see all 3): FBLN2
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FBLN2
    8 QIAGEN miScript miRNA Assays for microRNAs that regulate FBLN2:
    hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-545 hsa-miR-4323 hsa-miR-3662 hsa-miR-32* hsa-miR-27b
    SwitchGear 3'UTR luciferase reporter plasmid: FBLN2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FBLN2 (see all 5)
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    LifeMap BioReagents: cell line associated with FBLN2: PureStem E15, Meso-prx/latp Progenitor

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

    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 TAS7806230
    GO:0005509calcium ion binding IEA--
    GO:0050840extracellular matrix binding IEA--


    FBLN2 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Fbln2tm1Chu for FBLN2
         1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Fbln2):
     cardiovascular system 

    FBLN2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for FBLN2 gene

    (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
    1Cell adhesion_Cell-matrix glycoconjugates
    		Cell adhesion_Cell-matrix glycoconjugates1.00
    		Cell adhesion Cell-matrix glycoconjugates0.97
    2Elastic fibre formation
    		Elastic fibre formation1.00
    		Molecules associated with elastic fibres0.84
    3Collagen formation
    		Extracellular matrix organization0.54

    Pathway sources
    See GeneCards unified pathways
    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)

    5/27 Interacting proteins for FBLN2 (P980952, 3 ENSP000003841694) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    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): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010811positive regulation of cell-substrate adhesion IEA--


    FBLN2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for FBLN2 gene

    (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

    FBLN2 for compounds           About GeneDecksing

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

    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 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 

    Transcripts
    for FBLN2 gene

    (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, 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 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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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate FBLN2:
    hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-545 hsa-miR-4323 hsa-miR-3662 hsa-miR-32* hsa-miR-27b
    SwitchGear 3'UTR luciferase reporter plasmid: FBLN2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FBLN2 (see all 4)
    OriGene shRNA RFP: FBLN2
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FBLN2
    Clone
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    Additional cDNA 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):

    BU556575 CR624008 BG012914 CD515030 BM784974 BU931668 BU556734 NM_001004019 
    BG680961 BP344809 AI246349 BM673717 BU553532 BU859521 AA451985 BU855098 
    BU844464 AI379322 BU846307 AI354814 BU855789 BU553983 BM746486 AI193253 

    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

    Expression
    for FBLN2 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TACATTATAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    FBLN2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartEpicardiumSubepicardial CellsEpicardium
    BoneEndochondral Facial BonesBone
    BoneThoracic RibBone
    Neural TubeMetencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 5 LifeMap Cells 
    NameCategory
    mK3 (Cell line)Kidney
    mK4 (Cell line)Kidney
    PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)Lateral Plate Mesoderm, Neural Crest
    PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    Primitive gut tube-like cells (A scalable, suspensi...)

    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
    Assay Products:     
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    Orthologs
    for FBLN2 gene

    (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 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 62(a)
    		 1 ↔ 1
    		 GL343225.1(229678-375803)
    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 
    worm
    (Caenorhabditis elegans)    		 Secernentea B0393.53 EGF-like aspartic acid and asparagine
    hydroxylation more    		 36(a)   III(4840866-4847880)   --


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

    Paralogs
    for FBLN2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FBLN2 gene
    FBN12  LTBP32  SCUBE32  FBN32  FBLN52  FBN22  LTBP42  EFEMP12  
    EFEMP22  SCUBE12  LTBP22  LTBP12  FBLN12  SCUBE22  
    18/23 SIMAP similar genes for FBLN2 using alignment to 7 protein entries:     FBLN2_HUMAN (see all proteins) (see all similar genes):
    DKFZp586A1519    PROS1    LTBP1    FBN3    NELL1    LDLR
    EFEMP2    FBN2    MBP1    LTBP3    LTBP2    UMOD
    SCUBE2    FBLN1    LTBP4    MATN2    EFEMP1    HMCN1

    FBLN2 for paralogs           About GeneDecksing



    Genomic Variants
    for FBLN2 gene

    (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

    10/1815 NCBI SNPs in FBLN2 are shown (see all 1815)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs668655311,2
    		C--13548244(+) TCCCT-/CCGG  
                CCGGC     		1 -- int11Minor allele frequency- CCGG:0.00CSA 2
    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

    HapMap Linkage Disequilibrium report for FBLN2 (13573824 - 13679922 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FBLN2: --
    Human Gene Mutation Database (HGMD): FBLN2

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for FBLN2

    Disorders / Diseases
    for FBLN2 gene

    (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
    FBLN2 for disorders           About GeneDecksing

    OMIM gene information: 135821    OMIM disorders: --

    20/25 diseases for FBLN2 (see all 25):    About MalaCards
    atrioventricular septal defect    osteochondritis dissecans    cutis laxa    abdominal aortic aneurysm
    aortic aneurysm    marfan syndrome    esophageal squamous cell carcinoma    squamous cell carcinoma
    acute lymphoblastic leukemia    lymphoblastic leukemia    neuronitis    glaucoma
    multiple sclerosis    emphysema    liver disease    thrombosis
    esophagitis    pharyngitis    leukemia    breast cancer

    2 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: FBLN2 (3 documents)

    Export disorders for FBLN2 gene to outside databases

    Publications
    for FBLN2 gene

    (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 75):
    (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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. 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)
    5. 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)
    6. 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)
    7. Increased deposition of fibulin-2 in solar elastosis and its colocalization with elastic fibres. (PubMed id 11531782)1, 9 Hunzelmann N....Krieg T. (2001)
    8. Fibrillin-1 and fibulin-2 interact and are colocalized in some tissues. (PubMed id 8702639)1, 9 Reinhardt D.P....Sakai L.Y. (1996)
    9. Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2. (PubMed id 8946175)1, 9 Collod G....Boileau C. (1996)
    10. Binding of mouse and human fibulin-2 to extracellular matrix ligands. (PubMed id 7500359)1, 9 Sasaki T....Timpl R. (1995)

    External Searches for FBLN2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing FBLN2 gene

    (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

    Other Databases showing FBLN2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing FBLN2 gene

    (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

    Intellectual Property
    for FBLN2 gene

    (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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     FBLN2 Proteins, Antibodies, CLIAs, and ELISAs
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