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

FBN2 Gene

protein-coding   GIFtS: 61
GCID: GC05M127621

fibrillin 2

(Previous name: congenital contractural arachnodactyly )
(Previous symbol: CCA)
 Explore 33 diseases affiliated with
FBN2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FBN2    

Aliases
for FBN2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Fibrillin 21 2
CCA1 2 5
DA91 2
Congenital Contractural Arachnodactyly1
Fibrillin 52
Fibrillin-21

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


Summaries
for FBN2 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 FBN2:
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)

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)




Genomic Views
for FBN2 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_000005.9  NC_018916.1  NT_034772.6  
Regulatory elements:
   SABiosciences 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 plasmid: FBN2 promoter sequence
   Search SABiosciences Chromatin IP Primers for FBN2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for FBN2 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: FBN2_HUMAN, P35556 (See protein sequence)
Recommended Name: Fibrillin-2 precursor  
Size: 2912 amino acids; 314775 Da
Subcellular location: Secreted, extracellular space, extracellular matrix
Secondary accessions: B4DU01 Q59ES6
Alternative splicing: 2 isoforms:  P35556-1   P35556-2   

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P35556

    • FBN2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001990.2  
    ENSEMBL proteins: 
     ENSP00000424571   ENSP00000426839   ENSP00000425596   ENSP00000424753   ENSP00000262464  
    Reactome Protein details: P35556
    Human Recombinant Protein Products: 
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    Novus Biologicals FBN2 Protein
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for FBN2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001527microfibril TAS--
    GO:0005578proteinaceous extracellular matrix TAS8120105


    FBN2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for FBN2

    Protein Domains /
    Families
    for FBN2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    FBN2 for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     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 families:
    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


    Function
    for FBN2 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: 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

    miRNA
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    hsa-mir-101 (MIRT004012)

    OriGene 3'-UTR Clone: FBN2
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FBN2
    8/32 QIAGEN miScript miRNA 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 plasmid: FBN2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for FBN2

    Clone
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    Cell Line
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    LifeMap BioReagents: cell line associated with FBN2: PureStem 7PEND24, NCr-fac & Meso-prx Progenitor

    In Situ Assay
    Products:       
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent IEA--
    GO:0005509calcium ion binding IEA--


    FBN2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Fbn2tm1Rmz for FBN2
         9 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Fbn2):
     behavior/neurological  cardiovascular system  cellular  growth/size  limbs/digits/tail 
     mortality/aging  muscle  respiratory system  skeleton 

    FBN2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for FBN2 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 - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Integrin Pathway
    		Integrin Pathway1.00
    		UPA-UPAR Pathway0.51
    		FAK1 Signaling0.67
    		Transendothelial Migration of Leukocytes0.38
    		GnRH Signaling0.56
    		Inhibition of Angiogenesis by TSP10.37
    2Rho Family GTPases
    		Rho Family GTPases1.00
    		MAPK Signaling0.51
    		ERK Signaling0.61
    		ILK Signaling0.45
    		Molecular Mechanisms of Cancer0.51
    3Tropoelastin associates with microfibrils
    		Tropoelastin associates with microfibrils1.00
    		Fibrillin microfibril assembly0.50
    		Elastin cross-linking by lysyl oxidase0.55
    4Elastic fibre formation
    		Elastic fibre formation1.00
    		Molecules associated with elastic fibres0.84
    5PTEN Pathway
    		PTEN Pathway1.00
    		Phospholipase-C Pathway0.56

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/13 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for FBN2 (see all 13)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    5/6        Reactome Pathways for FBN2 (see all 6)
        Molecules associated with elastic fibres
    Extracellular matrix organization
    Elastic fibre formation
    Fibrillin microfibril assembly
    Tropoelastin associates with microfibrils



    FBN2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FBN2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/9 Interacting proteins for FBN2 (P355563 ENSP000002624644) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009653anatomical structure morphogenesis TAS7493032
    GO:0030326embryonic limb morphogenesis IEA--
    GO:0030501positive regulation of bone mineralization ISS--
    GO:0035108limb morphogenesis ----
    GO:0035583sequestering of TGFbeta in extracellular matrix ISS--


    FBN2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for FBN2 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

    FBN2 for compounds           About GeneDecksing

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

    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 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)

    Search CenterWatch for drugs/clinical trials and news about FBN2 

    Transcripts
    for FBN2 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 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
    Products:             		 OriGene 3'-UTR Clone: FBN2
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FBN2
    8/32 QIAGEN miScript miRNA 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 plasmid: FBN2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FBN2 (see all 7)
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    Clone
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    Primer
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    Additional cDNA 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 

    24/200 AceView cDNA sequences (see all 200):

    CD642940 CB994771 AI078175 CA434953 CD243435 BI056576 BX098687 AI050033 
    BG571572 CR612828 AK024353 BU735846 AU137946 CD642254 BM554391 CR611529 
    BF991463 AI023414 BX343658 CD653461 BP373463 X62009 AW629013 BE834180 

    GeneLoc Exon Structure


    Expression
    for FBN2 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

    FBN2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    FBN2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartEpicardiumSubepicardial CellsEpicardium
    KidneyRenal VesicleKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/12 LifeMap Cells (see all 12) 
    NameCategory
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
    PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)Lateral Plate Mesoderm, Neural Crest
    PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor F15 (Embryonic Progenitor Cell)
    PureStem™ progenitor Z1 (Embryonic Progenitor Cell)
    Adult human kidney epithelial cells (Primary Cell)Kidney
    Primitive gut tube-like cells (A scalable, suspensi...)
    Cardiomyocyte-like progenitor cells (Derivation of cardio...)
    Mesoderm-like cells (Derivation of cardio...)

    See FBN2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FBN2

    SOURCE GeneReport for Unigene cluster: Hs.519294
        SABiosciences Custom PCR Arrays for FBN2
    Primer
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    In Situ
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBN2

    Orthologs
    for FBN2 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 FBN2 gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Fbn21 , 5 fibrillin 21, 5 87.52(n)1
    96.56(a)1    		   18 (32.15 cM)5
    141191  NM_010181.21  NP_034311.21 
     580086235 
    chicken
    (Gallus gallus)    		 Aves FBN21 fibrillin 2 82.32(n)
    92.04(a)    		   374203  XM_424715.3  XP_424715.3 
    lizard
    (Anolis carolinensis)    		 Reptilia FBN26
    		 --
    		 90(a)
    		 1 ↔ 1
    		 2(30116334-30270364)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia Str.124422 Transcribed sequence with moderate similarity to protein spP35556 (H.sapiens) FBN2_HUMAN Fibrillin 2 precursor less 75.74(n)    BX710515.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii fbn2b1 fibrillin 2b 70.82(n)
    76.88(a)    		   571786  NM_001135790.1  NP_001129262.1 
    mosquito
    (Anopheles gambiae)    		 Insecta AgaP_AGAP0100211 AGAP010021-PA 43.09(n)
    33.68(a)    		   4578432  XM_553917.3  XP_553917.3 


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

    Paralogs
    for FBN2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FBN2 gene
    FBN12  LTBP32  SCUBE32  FBN32  FBLN52  LTBP42  EFEMP12  EFEMP22  
    SCUBE12  LTBP22  LTBP12  FBLN22  FBLN12  SCUBE22  
    17 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    EMR2    HMCN1
    NELL2    DKFZp586A1519    LTBP4    MATN2    pp6425

    FBN2 for paralogs           About GeneDecksing



    Genomic Variants
    for FBN2 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

    10/4629 NCBI SNPs in FBN2 are shown (see all 4629)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1540011,2
    		C,F,O,A,H,pathogenic127685135(+) ACAAAC/TGCCAG 2 I V mis1 ese340Minor allele frequency- N:0.00MN EA NA NS WA CSA EU 10893
    rs777228281,2
    		C,F,--122783986(+) AGAAGT/AAAGAT 1 -- ds50011Minor allele frequency- A:0.08WA 118
    rs753309941,2
    		C,F,--122784009(+) TGTTTC/TACTTC 1 -- ds50011Minor allele frequency- T:0.08WA 118
    rs582208471,2
    		C,--122784058(+) GAAATG/TCTTTG 1 -- ds50011Minor allele frequency- T:0.50WA 2
    rs767623611,2
    		F,--122784221(+) CCTGTG/ATGTCT 1 -- ds50011Minor allele frequency- A:0.08WA 118
    rs1123285991,2
    		C,--122784463(+) TTTTTC/TTTTTT 1 -- ut314Minor allele frequency- T:0.30CSA WA NA EA 360
    rs38056171,2
    		C--122784481(+) AAAAAA/CACAAT 1 -- ut310--------
    rs72881,2
    		C,F,O,A,H,--122784601(-) GACCAG/ATGACC 1 -- ut31 ese330Minor allele frequency- A:0.13MN EA NA NS WA CSA 4766
    rs773732961,2
    		C,F,--122784746(+) GGCTAT/CGATAA 1 -- ut311Minor allele frequency- C:0.07WA 118
    rs727830991,2
    		C,F,--122785059(+) GGTTAT/CGAGAA 1 -- ut311Minor allele frequency- C:0.04NA 120

    HapMap Linkage Disequilibrium report for FBN2 (127593601 - 127843601 bp, first 250kb of FBN2)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for FBN2
         1 CNV: 93228
         1 Indel: 81038
    Human Gene Mutation Database (HGMD): FBN2

    Locus Specific Mutation Databases (LSDB): FBN2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FBN2
    DNA2.0 Custom Variant and Variant Library Synthesis for FBN2

    Disorders / Diseases
    for FBN2 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
    FBN2 for disorders           About GeneDecksing

    OMIM gene information: 612570   
    OMIM disorders: 121050  
    UniProtKB/Swiss-Prot: FBN2_HUMAN, P35556
  • Defects in FBN2 are the cause of distal arthrogryposis type 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

    20/33 diseases for FBN2 (see all 33):    About MalaCards
    contractural arachnodactyly    congenital contractural arachnodactyly    congenital contractures    dental pulp calcification
    mitral valve prolapse    erythema infectiosum    connective tissue disease    intracranial aneurysm
    familial adenomatous polyposis    marfan syndrome    klatskin's tumor    brown syndrome
    syndactyly    esophageal squamous cell carcinoma    intellectual disability    squamous cell carcinoma
    polycystic kidney disease    aortic aneurysm    kidney disease    was-related disorders

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

    10/11 Novoseek 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
    Congenital Contractural Arachnodactyly

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

    Export disorders for FBN2 gene to outside databases

    Publications
    for FBN2 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 FBN2 gene, integrated from 9 sources (see all 123):
    (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. (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. (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. (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. (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. (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. (2003)
    7. Two novel fibrillin-2 mutations in congenital contractural arachnodactyly. (PubMed id 10797416)1, 2, 9 Belleh S....Godfrey M. (2000)
    8. 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. (1998)
    9. Enhanced fibrillin-2 expression is a general feature of wound healing and sclerosis: potential alteration of cell attachment and sto rage of TGF-beta. (PubMed id 20195245)1, 9 Brinckmann J....Reinhardt D.P. (2010)
    10. Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development. (PubMed id 9714438)2, 9 Park E.-S.... Milewicz D.M. (1998)

    External Searches for FBN2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing FBN2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2201 HGNC: 3604 AceView: FBN2 Ensembl:ENSG00000138829 euGenes: HUgn2201
    ECgene: FBN2 H-InvDB: FBN2

    Other Databases showing FBN2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing FBN2 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 FBN2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FBN2

    Intellectual Property
    for FBN2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for FBN2 gene:
    Search GeneIP for patents involving FBN2

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     FBN2 Proteins, Antibodies, CLIAs, and ELISAs
     Cell Line associated with FBN2: PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
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