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FBN2 Gene

protein-coding   GIFtS: 64
GCID: GC05M127621

Fibrillin 2

(Previous name: congenital contractural arachnodactyly)
(Previous symbol: CCA)
  See FBN2-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
Fibrillin 21 2
CCA1 2 5
Fibrillin 51 2
Congenital Contractural Arachnodactyly1
DA92
fibrillin-22

External Ids:    HGNC: 36041   Entrez Gene: 22012   Ensembl: ENSG000001388297   OMIM: 6125705   UniProtKB: P355563   

Export aliases for FBN2 gene to outside databases

Previous GC identifers: GC05M127131 GC05M128029 GC05M127624 GC05M127669 GC05M122784


(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 FBN2 Gene:
The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic
fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. (provided by RefSeq, Jul
2008)

GeneCards Summary for FBN2 Gene:
FBN2 (fibrillin 2) is a protein-coding gene. Diseases associated with FBN2 include congenital contractural arachnodactyly, and dental pulp calcification. GO annotations related to this gene include extracellular matrix structural constituent and calcium ion binding. An important paralog of this gene is FBN1.

UniProtKB/Swiss-Prot: FBN2_HUMAN, P35556
Function: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur
either in association with elastin or in elastin-free bundles. Fibrillin-2-containing microfibrils regulate the
early process of elastic fiber assembly. Regulates osteoblast maturation by controlling TGF-beta bioavailability
and calibrating TGF-beta and BMP levels, respectively (By similarity)




(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 at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_034772.7  
Regulatory elements:
   Regulatory transcription factor binding sites in the FBN2 gene promoter:
         Nkx3-1   GR   Nkx3-1 v4   Nkx3-1 v1   AP-4   Nkx3-1 v2   Nkx3-1 v3   c-Myb   GR-alpha   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFBN2 promoter sequence
   Search Chromatin IP Primers for FBN2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FBN2


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

Entrez Gene cytogenetic band: 5q23-q31   Ensembl cytogenetic band:  5q23.3   HGNC cytogenetic band: 5q23-q31

FBN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBN2 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M127621:  view genomic region     (about GC identifiers)

Start:
127,593,601 bp from pter      End:
127,994,878 bp from pter
Size:
401,278 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: FBN2_HUMAN, P35556 (See protein sequence)
Recommended Name: Fibrillin-2 precursor  
Size: 2912 amino acids; 314775 Da
Secondary accessions: B4DU01 Q59ES6
Alternative splicing: 2 isoforms:  P35556-1   P35556-2   

Explore the universe of human proteins at neXtProt for FBN2: NX_P35556

Explore proteomics data for FBN2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Thr51, Asn492, Thr1066, Asn1112, Asn1414, Asn1529, Asn1625, Asn1714, Asn1745, Asn1756,
                                 Asn1945, Asn2120, Asn2225, Asn2808
  • Modification sites at PhosphoSitePlus

  • See FBN2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001990.2  
    ENSEMBL proteins: 
     ENSP00000424571   ENSP00000426839   ENSP00000425596   ENSP00000424753   ENSP00000262464  
    Reactome Protein details: P35556

    FBN2 Human Recombinant Protein Products:

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    Novus Biologicals FBN2 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FBN2

     
    Search eBioscience for Proteins for FBN2 

     
    antibodies-online proteins for FBN2 (4 products) 

     
    antibodies-online peptides for FBN2

    FBN2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of FBN2
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    ThermoFisher Antibodies for FBN2
    antibodies-online antibodies for FBN2 (33 products) 

    FBN2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for FBN2
    Cloud-Clone Corp. CLIAs for FBN2
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    antibodies-online kits for FBN2 (20 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 9):
     IPR017878 TB_dom
     IPR000742 EG-like_dom
     IPR026823 cEGF
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS

    Graphical View of Domain Structure for InterPro Entry P35556

    ProtoNet protein and cluster: P35556

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


    UniProtKB/Swiss-Prot: FBN2_HUMAN, P35556
    Similarity: Belongs to the fibrillin family
    Similarity: Contains 47 EGF-like domains
    Similarity: Contains 9 TB (TGF-beta binding) domains


    Find genes that share domains with FBN2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FBN2_HUMAN, P35556
    Function: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur
    either in association with elastin or in elastin-free bundles. Fibrillin-2-containing microfibrils regulate the
    early process of elastic fiber assembly. Regulates osteoblast maturation by controlling TGF-beta bioavailability
    and calibrating TGF-beta and BMP levels, respectively (By similarity)

         Genatlas biochemistry entry for FBN2:
    fibrillin 2,312kDa,major constituent of extracellular microfibrils

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent IEA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with FBN2           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Fbn2):
     behavior/neurological  cardiovascular system  cellular  growth/size/body  limbs/digits/tail 
     mortality/aging  muscle  respiratory system  skeleton 

    Find genes that share phenotypes with FBN2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Fbn2tm1Rmz for FBN2

       genOway: Develop your customized and physiologically relevant rodent model for FBN2

    miRNA
    Products:
        
    miRTarBase miRNAs that target FBN2:
    hsa-mir-101-3p (MIRT004012), hsa-mir-30d-5p (MIRT047815), hsa-mir-744-5p (MIRT037707), hsa-mir-335-5p (MIRT017958), hsa-mir-9-5p (MIRT021389), hsa-mir-615-3p (MIRT040044), hsa-mir-92b-3p (MIRT040660), hsa-mir-149-5p (MIRT045540)

    Block miRNA regulation of human, mouse, rat FBN2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FBN2 (see all 32):
    hsa-miR-140-5p hsa-miR-217 hsa-miR-137 hsa-miR-25 hsa-miR-485-3p hsa-miR-767-5p hsa-miR-548v hsa-miR-139-5p
    SwitchGear 3'UTR luciferase reporter plasmidFBN2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for FBN2
    Predesigned siRNA for gene silencing in human, mouse, rat FBN2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for FBN2

    Clone
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    GenScript: all cDNA clones in your preferred vector: FBN2 (NM_001999)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FBN2
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FBN2

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for FBN2
    ESI BIO PureStem Progenitor for FBN2: 
    PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBN2


    (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
    FBN2_HUMAN, P35556: Secreted, extracellular space, extracellular matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol2
    plasma membrane2
    endoplasmic reticulum1
    golgi apparatus1
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001527microfibril TAS--
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix TAS8120105
    GO:0016020membrane ----

    Find genes that share ontologies with FBN2           About GenesLikeMe


    (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 FBN2 About    
    See pathways by source

    SuperPathContained pathways About
    1Integrin Pathway
    FAK1 Signaling0.67
    UPA-UPAR Pathway0.56
    Integrin Pathway0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    2ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    3Phospholipase-C Pathway
    Phospholipase-C Pathway0.56
    PTEN Pathway0.56
    4Elastic fibre formation
    Elastic fibre formation0.73
    5Degradation of the extracellular matrix
    Extracellular matrix organization0.34


    Find genes that share SuperPaths with FBN2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for FBN2 (see all 13)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    3 Reactome Pathways for FBN2
        Molecules associated with elastic fibres
    Elastic fibre formation
    Degradation of the extracellular matrix


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FBN2
    Interactions:

        GeneGlobe Interaction Network for FBN2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for FBN2 (P355563 ENSP000002624644) via UniProtKB, MINT, STRING, and/or I2D (see all 67)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MATN2O003393, ENSP000002548984I2D: score=2 STRING: ENSP00000254898
    LTBP1Q147663, ENSP000003464674I2D: score=1 STRING: ENSP00000346467
    MFAP2P550013, ENSP000003646854I2D: score=1 STRING: ENSP00000364685
    PTENP604843, ENSP000003610214I2D: score=1 STRING: ENSP00000361021
    SMAD2Q157963, ENSP000002621604I2D: score=1 STRING: ENSP00000262160
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009653anatomical structure morphogenesis TAS7493032
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030198extracellular matrix organization TAS--
    GO:0030326embryonic limb morphogenesis IEA--
    GO:0030501positive regulation of bone mineralization ISS--

    Find genes that share ontologies with FBN2           About GenesLikeMe



    (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 FBN2

    1 HMDB Compound for FBN2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    4 Novoseek inferred chemical compound relationships for FBN2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-aza-2'deoxycytidine 51 3 15467763 (1), 15951052 (1)
    proline 4.74 2 10504303 (1), 11723825 (1)
    calcium 0 1 11754102 (1)
    cysteine 0 2 7493032 (1), 10636927 (1)



    Find genes that share compounds with FBN2           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for FBN2 gene: 
    NM_001999.3  

    Unigene Cluster for FBN2:

    Fibrillin 2
    Hs.519294  [show with all ESTs]
    Unigene Representative Sequence: NM_001999
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000508053 ENST00000507835 ENST00000508989(uc003kuv.2) ENST00000511489
    ENST00000502468(uc003kuw.4) ENST00000514742 ENST00000262464(uc003kuu.3)

    miRNA
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    Block miRNA regulation of human, mouse, rat FBN2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FBN2 (see all 32):
    hsa-miR-140-5p hsa-miR-217 hsa-miR-137 hsa-miR-25 hsa-miR-485-3p hsa-miR-767-5p hsa-miR-548v hsa-miR-139-5p
    SwitchGear 3'UTR luciferase reporter plasmidFBN2 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat FBN2
      QuantiFast Probe-based Assays in human, mouse, rat FBN2

    Additional mRNA sequence: 

    AB209735.1 AF193046.1 AK024353.1 AK300440.1 BC040623.1 U03272.1 X62009.1 

    10 DOTS entries:

    DT.454569  DT.75193652  DT.40116890  DT.102842691  DT.40118557  DT.92430703  DT.100786446  DT.91708846 
    DT.91939781  DT.92430699 

    Selected AceView cDNA sequences (see all 200):

    AK024353 BX343658 AU137946 AI023414 CD642940 CB994771 AI078175 CA434953 
    CD243435 BU735846 AI050033 BI056576 CD642254 CR612828 BM554391 BP373463 
    BX098687 BF991463 CR611529 BG571572 CD653461 AI400177 W55993 AL701516 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, 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)
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    FBN2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    FBN2 Expression
    About this image


    FBN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Subepicardial Cells Epicardium
             Cardiomyocyte-like progenitor cells
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             Zeugopod Epiphyseal End
             HyStem+TGFbeta3+GDF5-induced E15 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             HyStem+TGFbeta3+GDF5-induced E15 cells
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 3 entries
             PureStem 4D20.8, NCr-fac Progenitor
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Monocytes Peripheral Blood
             Umbilical cord blood-derived mesenchymal stem cells
    FBN2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FBN2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.519294
        Custom PCR Arrays for FBN2
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for FBN2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FBN2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBN2

    (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

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    This gene was present in the common ancestor of animals.

    Orthologs for FBN2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fbn21 , 5 fibrillin 21, 5 87.5(n)1
    96.49(a)1
      18 (32.15 cM)5
    141191  NM_010181.21  NP_034311.21 
     580086235 
    chicken
    (Gallus gallus)
    Aves FBN21 fibrillin 2 82.31(n)
    92.01(a)
      374203  XM_424715.4  XP_424715.3 
    lizard
    (Anolis carolinensis)
    Reptilia FBN26
    fibrillin 2
    90(a)
    1 ↔ 1
    2(30114722-30270364)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.124422 Transcribed sequence with moderate similarity to protein more 75.74(n)    BX710515.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0100211 AgaP_AGAP010021 42.69(n)
    32.9(a)
      4578432  XM_553917.3  XP_553917.3 


    ENSEMBL Gene Tree for FBN2 (if available)
    TreeFam Gene Tree for FBN2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for FBN2 gene
    FBN12  EGFL62  VWCE2  NELL22  NELL12  NPNT2  FBN32  
    15 SIMAP similar genes for FBN2 using alignment to 6 protein entries:     FBN2_HUMAN (see all proteins):
    PP187    FBN1    FBN3    PROS1    F7    FBLN2
    LTBP2    NPNT    LTBP1    EFEMP1    HMCN1    NELL2
    EMR2    DKFZp586A1519    MATN2

    Find genes that share paralogs with FBN2           About GenesLikeMe



    (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 FBN2 (see all 5763)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0549854
    Arthrogryposis, distal, 9 (DA9)4--see VAR_0549852 C R mis40--------
    VAR_0549824
    Arthrogryposis, distal, 9 (DA9)4--see VAR_0549822 I T mis40--------
    VAR_0583684
    Arthrogryposis, distal, 9 (DA9)4--see VAR_0583682 Y C mis40--------
    VAR_0549864
    Arthrogryposis, distal, 9 (DA9)4--see VAR_0549862 C W mis40--------
    VAR_0583674
    Arthrogryposis, distal, 9 (DA9)4--see VAR_0583672 C R mis40--------
    VAR_0583654
    Arthrogryposis, distal, 9 (DA9)4--see VAR_0583652 N S mis40--------
    VAR_0583694
    Arthrogryposis, distal, 9 (DA9)4--see VAR_0583692 C F mis40--------
    VAR_0583734
    Arthrogryposis, distal, 9 (DA9)4--see VAR_0583732 C Y mis40--------
    VAR_0583644
    Arthrogryposis, distal, 9 (DA9)4--see VAR_0583642 G S mis40--------
    VAR_0583744
    Arthrogryposis, distal, 9 (DA9)4--see VAR_0583742 D N mis40--------

    HapMap Linkage Disequilibrium report for FBN2 (127593601 - 127843601 bp, first 250kb of FBN2)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for FBN2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2674979CNV Deletion23128226
    nsv4994CNV Insertion18451855
    nsv830482CNV Gain17160897
    nsv830483CNV Gain17160897

    Human Gene Mutation Database (HGMD): FBN2
    Locus Specific Mutation Databases (LSDB): FBN2

    Site Specific Mutation Identification with PCR Assays
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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.)
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    OMIM gene information: 612570   
    OMIM disorders: 121050  
    UniProtKB/Swiss-Prot: FBN2_HUMAN, P35556
  • Arthrogryposis, distal, 9 (DA9) [MIM:121050]: A form of distal arthrogryposis, a disease characterized by
    congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a
    primary neurological or muscle disease. DA9 is a connective tissue disorder characterized by contractures,
    arachnodactyly, scoliosis, and crumpled ears. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 6 diseases for FBN2:    
    About MalaCards
    congenital contractural arachnodactyly    dental pulp calcification    geleophysic dysplasia    weill-marchesani syndrome
    intracranial aneurysm    congenital contractures

    4 diseases from the University of Copenhagen DISEASES database for FBN2:
    Marfan syndrome     Mitral valve prolapse     Dental pulp calcification     Distal arthrogryposis

    Find genes that share disorders with FBN2           About GenesLikeMe

    Selected Novoseek inferred disease relationships for FBN2 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    arachnodactyly 97.7 34 8900230 (2), 17345643 (2), 8541880 (1), 18767143 (1) (see all 22)
    marfan syndrome 88.1 9 8307578 (1), 7963685 (1), 12399449 (1), 11285249 (1) (see all 8)
    aortic root dilatation 79.6 1 11754102 (1)
    heritable connective tissue disorder 73.5 2 10464661 (1)
    connective tissue diseases 69.9 1 9263339 (1)
    syndactyly 52.6 2 7873879 (1), 11285249 (1)
    intracranial aneurysm 36.8 4 12750963 (1), 19506372 (1), 17038484 (1)
    genetic disorder 19.1 1 12399449 (1)
    aneurysm 12 1 11369687 (1)
    pancreatic cancer 2.9 1 15951052 (1)

    GeneTests: FBN2
    GeneReviews: FBN2
    Genetic Association Database (GAD): FBN2
    Human Genome Epidemiology (HuGE) Navigator: FBN2 (9 documents)

    Export disorders for FBN2 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)
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    PubMed articles for FBN2 gene, integrated from 10 sources (see all 130):
    (articles sorted by number of sources associating them with FBN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices. (PubMed id 8120105)1, 2, 3, 9 Zhang H.... Ramirez F. (J. Cell Biol. 1994)
    2. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. (PubMed id 1852206)1, 2, 3 Lee B.... Hollister D.W. (Nature 1991)
    3. Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. (PubMed id 7493032)1, 2, 9 Putnam E.A.... Milewicz D.M. (Nat. Genet. 1995)
    4. Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. (PubMed id 11754102)1, 2, 9 Gupta P.A.... Milewicz D.M. (Hum. Mutat. 2002)
    5. Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. (PubMed id 19006240)1, 2, 9 Callewaert B.L....De Paepe A.M. (Hum. Mutat. 2009)
    6. Association of positional and functional candidate genes FGF1, FBN2, and LOX on 5q31 with intracranial aneurysm. (PubMed id 12750963)1, 4, 9 Yoneyama T....Inoue I. (J. Hum. Genet. 2003)
    7. Association analysis of genes involved in the maintenance of the integrity of the extracellular matrix with intracranial aneurysms in a Japanese cohort. (PubMed id 19506372)1, 4, 9 Ruigrok Y.M....Krischek B. (Cerebrovasc. Dis. 2009)
    8. Two novel fibrillin-2 mutations in congenital contractural arachnodactyly. (PubMed id 10797416)1, 2, 9 Belleh S....Godfrey M. (Am. J. Med. Genet. 2000)
    9. A single mutation that results in an Asp-to-His substitution and partial exon skipping in a family with congenital contractural arachnodactyly. (PubMed id 9737771)1, 2, 9 Babcock D.... Maslen C. (Hum. Genet. 1998)
    10. Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. (PubMed id 21998595)1, 4 N'Diaye A....Haiman C.A. (PLoS Genet. 2011)

    (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: 2201 HGNC: 3604 AceView: FBN2 Ensembl:ENSG00000138829 euGenes: HUgn2201
    ECgene: FBN2 H-InvDB: FBN2

    (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 FBN2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=FBN2[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 FBN2 gene:
    Search GeneIP for patents involving FBN2

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



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