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FLNB Gene

protein-coding   GIFtS: 67
GCID: GC03P057969

Filamin B, Beta

(Previous names: filamin B, beta (actin binding protein 278), Larsen syndrome...)
(Previous symbols: FLN1L, LRS1)
Microbiology & Infectious Diseases Congress
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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
Filamin B, Beta1 2     SCT2 5
FLN1L1 2 3     Filamin B, Beta (Actin Binding Protein 278)1
LRS11 2 5     ABP-2802
Larsen Syndrome 1 (Autosomal Dominant)1 2     FH12
Actin Binding Protein 2781 2     beta-filamin2
Actin-Binding-Like Protein2 3     filamin-32
Filamin Homolog 12 3     filamin-B2
Thyroid Autoantigen2 3     Beta-filamin3
ABP-2782 3     FLN33
FLN-B2 3     Fh13
TABP2 3     Filamin-33
TAP2 3     Truncated ABP3
ABP-280 Homolog2 3     Truncated Actin-Binding Protein3
AOI2 5     

External Ids:    HGNC: 37551   Entrez Gene: 23172   Ensembl: ENSG000001360687   OMIM: 6033815   UniProtKB: O753693   

Export aliases for FLNB gene to outside databases

Previous GC identifers: GC03M056977 GC03M057448 GC03P057848 GC03P057951


(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 FLNB Gene:
This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part
of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha,
and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions:
atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and
spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different
protein isoforms have been described for this gene. (provided by RefSeq, Nov 2009)

GeneCards Summary for FLNB Gene:
FLNB (filamin B, beta) is a protein-coding gene. Diseases associated with FLNB include congenital knee dislocation, and atelosteogenesis type 1. GO annotations related to this gene include actin binding and identical protein binding. An important paralog of this gene is FLNA.

UniProtKB/Swiss-Prot: FLNB_HUMAN, O75369
Function: Connects cell membrane constituents to the actin cytoskeleton. May promote orthogonal branching of actin
filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the
actin cytoskeleton. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the
cortical plate. Various interactions and localizations of isoforms affect myotube morphology and myogenesis.
Isoform 6 accelerates muscle differentiation in vitro

Gene Wiki entry for FLNB Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FLNB gene promoter:
         GR   AML1a   GR-beta   NRSF form 2   Meis-1b   FOXC1   Meis-1a   GR-alpha   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFLNB promoter sequence
   Search Chromatin IP Primers for FLNB

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


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

Entrez Gene cytogenetic band: 3p14.3   Ensembl cytogenetic band:  3p14.3   HGNC cytogenetic band: 3p14.3

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P057969:  view genomic region     (about GC identifiers)

Start:
57,994,127 bp from pter      End:
58,157,982 bp from pter
Size:
163,856 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: FLNB_HUMAN, O75369 (See protein sequence)
Recommended Name: Filamin-B  
Size: 2602 amino acids; 278164 Da
Subunit: Homodimer. Interacts with MICALL2 (By similarity). Isoform 1 interacts with FBLP1, FLNA, FLNC, GP1BA,
INPPL1, ITGB1A, PSEN1 and PSEN2. Isoform 3 interacts with ITGB1A, ITGB1D, ITGB3 and ITGB6. Interacts with MYOT
and MYOZ1. Interacts with HBV capsid protein
Sequence caution: Sequence=AAA35505.1; Type=Frameshift; Positions=2432, 2589;
Selected PDB 3D structures from and Proteopedia for FLNB (see all 22):
2DI8 (3D)        2DI9 (3D)        2DIA (3D)        2DIB (3D)        2DIC (3D)        2DJ4 (3D)    
Secondary accessions: B2ZZ83 B2ZZ84 B2ZZ85 C9JKE6 C9JMC4 Q13706 Q59EC2 Q60FE7 Q6MZJ1 Q8WXS9
Q8WXT0 Q8WXT1 Q8WXT2 Q9NRB5 Q9NT26 Q9UEV9
Alternative splicing: 9 isoforms:  O75369-1   O75369-2   O75369-3   O75369-7   O75369-4   O75369-5   O75369-6   O75369-8   
O75369-9   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FLNB: NX_O75369

Explore proteomics data for FLNB at MOPED

Post-translational modifications: 

  • ISGylation prevents ability to interact with the upstream activators of the JNK cascade and inhibits IFNA-induced
    JNK signaling1
  • Ubiquitination2 at Lys16, Lys60, Lys495, Lys681, Lys1897
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (4 alternative transcripts): 
    NP_001157789.1  NP_001157790.1  NP_001157791.1  NP_001448.2  

    ENSEMBL proteins: 
     ENSP00000420213   ENSP00000295956   ENSP00000351339   ENSP00000415599   ENSP00000418510  
     ENSP00000420199   ENSP00000419954   ENSP00000232447   ENSP00000349819   ENSP00000414532  
    Reactome Protein details: O75369

    FLNB Human Recombinant Protein Products:

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

    FLNB Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of FLNB
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    Abcam antibodies for FLNB
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for FLNB
    LSBio Antibodies in human, mouse, rat for FLNB

    FLNB Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for FLNB
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (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 7):
     IPR001298 Filamin/ABP280_rpt
     IPR014756 Ig_E-set
     IPR013783 Ig-like_fold
     IPR001715 CH-domain
     IPR017868 Filamin/ABP280_repeat-like

    Graphical View of Domain Structure for InterPro Entry O75369

    ProtoNet protein and cluster: O75369

    2 Blocks protein domains:
    IPB001589 Actin-binding
    IPB001715 Calponin-like actin-binding


    UniProtKB/Swiss-Prot: FLNB_HUMAN, O75369
    Domain: Comprised of a NH2-terminal actin-binding domain, 24 internally homologous repeats and two hinge regions.
    Repeat 24 and the second hinge domain are important for dimer formation. The first hinge region prevents binding
    to ITGA and ITGB subunits
    Similarity: Belongs to the filamin family
    Similarity: Contains 1 actin-binding domain
    Similarity: Contains 2 CH (calponin-homology) domains
    Similarity: Contains 24 filamin repeats


    FLNB for domains           About GeneDecksing


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

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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FLNB_HUMAN, O75369
    Function: Connects cell membrane constituents to the actin cytoskeleton. May promote orthogonal branching of actin
    filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the
    actin cytoskeleton. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the
    cortical plate. Various interactions and localizations of isoforms affect myotube morphology and myogenesis.
    Isoform 6 accelerates muscle differentiation in vitro

         Genatlas biochemistry entry for FLNB:
    filamin B,dimeric actin cross-linking phosphoprotein of the peripheral cytoplasm,interacting with the cytoplasmic
    tail of glycoprotein GP1BA

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding NAS8327473
    GO:0005515protein binding IPI10644691
    GO:0042802identical protein binding IPI12393796
    GO:0044822poly(A) RNA binding IDA--
         
    FLNB for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Flnb):
     behavior/neurological  cardiovascular system  cellular  craniofacial  growth/size/body 
     limbs/digits/tail  mortality/aging  nervous system  skeleton 

    FLNB for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FLNB
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FLNB

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FLNB
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FLNB

    miRNA
    Products:
        
    miRTarBase miRNAs that target FLNB:
    hsa-mir-9-5p (MIRT021361), hsa-let-7c-5p (MIRT051871), hsa-mir-92a-3p (MIRT049532), hsa-mir-484 (MIRT042011), hsa-mir-155-5p (MIRT020752), hsa-mir-1 (MIRT023750), hsa-mir-92b-3p (MIRT040586)

    Block miRNA regulation of human, mouse, rat FLNB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FLNB (see all 14):
    hsa-miR-520d-5p hsa-miR-130a* hsa-miR-3065-5p hsa-miR-23c hsa-miR-1205 hsa-miR-145* hsa-miR-183* hsa-miR-582-5p
    SwitchGear 3'UTR luciferase reporter plasmidFLNB 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for FLNB
    Predesigned siRNA for gene silencing in human, mouse, rat FLNB

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

    Clone
    Products:
         
    OriGene clones in human, mouse for FLNB (see all 17)
    OriGene ORF clones in mouse, rat for FLNB
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): FLNB (NM_001457)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FLNB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FLNB

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for FLNB 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FLNB


    (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
    FLNB_HUMAN, O75369: Isoform 1: Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere,
    Z line. Note=In differentiating myotubes, isoform 1, isoform 2 and isoform 3 are localized diffusely throughout
    the cytoplasm with regions of enrichment at the longitudinal actin stress fiber. In differentiated tubes, isoform
    1 is also detected within the Z-lines
    FLNB_HUMAN, O75369: Isoform 2: Cytoplasm, cytoskeleton. Note=Predominantly localized at actin stress fibers
    FLNB_HUMAN, O75369: Isoform 3: Cytoplasm, cytoskeleton. Note=Predominantly localized at actin stress fibers
    FLNB_HUMAN, O75369: Isoform 6: Cytoplasm, cytoskeleton. Note=Polarized at the periphery of myotubes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    plasma membrane4
    golgi apparatus3
    nucleus3
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001725stress fiber IEA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA--
    GO:0005925focal adhesion IEA--

    FLNB for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for FLNB About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Interferon Signaling
    Interferon Signaling0.59
    ISG15 antiviral mechanism0.42
    Cytokine Signaling in Immune system0.59
    Antiviral mechanism by IFN-stimulated genes0.42
    2Regulation of CFTR activity norm and CF
    Regulation of CFTR activity norm and CF 0.38
    wtCFTR and deltaF508 traffic Membrane expression norm and CF 0.38
    3Focal adhesion
    Focal adhesion0.65
    4PAK Pathway
    Antioxidant Action of Vitamin-C0.56
    5MAPK signaling pathway
    MAPK signaling pathway0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for FLNB
        SMAD Signaling Network
    ILK Signaling
    Antioxidant Action of Vitamin-C

    1 Cell Signaling Technology (CST) Pathway for FLNB
        Cytoskeletal Signaling

    3 GeneGo (Thomson Reuters) Pathways for FLNB
        wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
    Regulation of CFTR activity (norm and CF)
    wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)

    1 Reactome Pathway for FLNB
        ISG15 antiviral mechanism


    4 Kegg Pathways  (Kegg details for FLNB):
        MAPK signaling pathway
    Focal adhesion
    Salmonella infection
    Proteoglycans in cancer


    FLNB for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including FLNB: 
              Adherens Junctions in human mouse rat
              Focal Adhesions in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for FLNB

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

    Selected Interacting proteins for FLNB (O753691, 2, 3 ENSP000002959564) via UniProtKB, MINT, STRING, and/or I2D (see all 81)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP3K1Q132331, 2, 3, ENSP000003824234EBI-352089,EBI-49776 MINT-7288768 MINT-7288718 I2D: score=1 STRING: ENSP00000382423
    MAP3K4Q9Y6R41, 2, 3, ENSP000003759864EBI-352089,EBI-448104 MINT-7288768 MINT-7288733 I2D: score=1 STRING: ENSP00000375986
    PSEN1P497682, 3, ENSP000003263664MINT-15987 MINT-15986 I2D: score=4 STRING: ENSP00000326366
    PIK3R1P279862, 3, ENSP000002743354MINT-8111967 I2D: score=3 STRING: ENSP00000274335
    PLCG1P191742, 3, ENSP000002440074MINT-8112555 I2D: score=3 STRING: ENSP00000244007
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007016cytoskeletal anchoring at plasma membrane TAS9694715
    GO:0007165signal transduction TAS8327473
    GO:0007519skeletal muscle tissue development IEA--
    GO:0019221cytokine-mediated signaling pathway TAS--
    GO:0030036actin cytoskeleton organization TAS8327473

    FLNB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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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 FLNB

    2 Novoseek inferred chemical compound relationships for FLNB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    trypsinogen 71.5 10 11138966 (2), 11025364 (1), 12820306 (1), 19900452 (1) (see all 8)
    cholesterol 0 4 7773731 (2), 8457250 (1), 8399083 (1)



    FLNB for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FLNB gene (4 alternative transcripts): 
    NM_001164317.1  NM_001164318.1  NM_001164319.1  NM_001457.3  

    Unigene Cluster for FLNB:

    Filamin B, beta
    Hs.476448  [show with all ESTs]
    Unigene Representative Sequence: NM_001164317
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000490882 ENST00000295956 ENST00000358537 ENST00000429972 ENST00000493452
    ENST00000481470 ENST00000491408 ENST00000477629 ENST00000466455 ENST00000470231
    ENST00000468939 ENST00000475487 ENST00000484981 ENST00000348383 ENST00000357272(uc010hne.2 uc003djj.2 uc003djk.2 uc010hnf.2 uc010hng.1)
    ENST00000419752(uc003djl.2 uc003djm.2)
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate FLNB (see all 14):
    hsa-miR-520d-5p hsa-miR-130a* hsa-miR-3065-5p hsa-miR-23c hsa-miR-1205 hsa-miR-145* hsa-miR-183* hsa-miR-582-5p
    SwitchGear 3'UTR luciferase reporter plasmidFLNB 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FLNB
    Clone
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    OriGene clones in human, mouse for FLNB (see all 17)
    OriGene ORF clones in mouse, rat for FLNB
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): FLNB (NM_001457)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FLNB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FLNB
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for FLNB
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FLNB
      QuantiTect SYBR Green Assays in human, mouse, rat FLNB
      QuantiFast Probe-based Assays in human, mouse, rat FLNB

    Additional mRNA sequence: 

    AB191258.1 AB209889.1 AB371580.1 AB371581.1 AB371582.1 AF042166.1 AF043045.1 AF238609.1 
    AF353666.1 AK022486.1 AK130827.1 AL137574.1 AL833551.1 BC015427.1 BX641085.1 CR749793.1 
    M62994.1 

    Selected DOTS entries (see all 38):

    DT.449656  DT.91715570  DT.95200311  DT.100688240  DT.92407382  DT.97856629  DT.40237628  DT.91976492 
    DT.40117052  DT.40301465  DT.120848794  DT.120848825  DT.120848910  DT.95374320  DT.120708896  DT.120848843 
    DT.65285529  DT.95330783  DT.120848800  DT.120848805  DT.120848809  DT.120848828  DT.120848852  DT.120848859 

    Selected AceView cDNA sequences (see all 732):

    AI190035 AA480296 AA188550 AW369042 AI579903 AA056708 AI281044 AA933032 
    AA872022 CA310514 CB125253 BM841832 CR618796 CB105681 AA149840 AW193190 
    AF043045 BF002929 BU678187 BX642884 CB145531 CB125226 BE302218 AA496101 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for FLNB (see all 12)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
    SP1:        -           -                                                                                                                                       
    SP2:        -           -                                                                                                                                       
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 27 ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33 ^ 34 ^ 35 ^ 36a · 36b ^ 37 ^ 38a · 38b ^ 39a · 39b ^ 40a · 40b ^ 41 ^ 42a · 42b ^ 43a · 43b ^ 44 ^
    SP1:        -                                                           -                             -                 -           -                           
    SP2:        -                                   -                       -                             -                 -           -                           
    SP3:        -                                   -                       -                             -                 -           -                           
    SP4:                                      -     -                       -                             -                 -           -                           
    SP5:                                                                                                                                                            

    ExUns: 45a · 45b ^ 46 ^ 47a · 47b ^ 48a · 48b ^ 49 ^ 50a · 50b · 50c
    SP1:        -     -     -                                             
    SP2:        -     -     -                                             
    SP3:        -     -     -                                             
    SP4:        -     -     -                                             
    SP5:                                      -                           


    ECgene alternative splicing isoforms for FLNB

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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


    FLNB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Heart (Cardiovascular System)
             Cardiac Fibroblasts Myocardium
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Fibroblasts
             Cardiac Fibroblasts Myocardium
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    FLNB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FLNB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.476448

    UniProtKB/Swiss-Prot: FLNB_HUMAN, O75369
    Tissue specificity: Ubiquitous. Isoform 1 and isoform 2 are expressed in placenta, bone marrow, brain, umbilical
    vein endothelial cells (HUVEC), retina and skeletal muscle. Isoform 1 is predominantly expressed in prostate,
    uterus, liver, thyroid, stomach, lymph node, small intestine, spleen, skeletal muscle, kidney, placenta,
    pancreas, heart, lung, platelets, endothelial cells, megakaryocytic and erythroleukemic cell lines. Isoform 2 is
    predominantly expressed in spinal cord, platelet and Daudi cells. Also expressed in thyroid adenoma,
    neurofibrillary tangles (NFT), senile plaques in the hippocampus and cerebral cortex in Alzheimer disease (AD).
    Isoform 3 and isoform 6 are expressed predominantly in lung, heart, skeletal muscle, testis, spleen, thymus and
    leukocytes. Isoform 4 and isoform 5 are expressed in heart

        Pathway & Disease-focused RT2 Profiler PCR Arrays including FLNB: 
              Adherens Junctions in human mouse rat
              Focal Adhesions in human mouse rat

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    (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 FLNB gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Flnb1 , 5 filamin, beta1, 5 87.87(n)1
    95.83(a)1
      14 (4.59 cM)5
    2869401  NM_134080.11  NP_598841.11 
     78179575 
    chicken
    (Gallus gallus)
    Aves FLNB1 filamin B, beta 75.76(n)
    83.95(a)
      378913  NM_001030341.1  NP_001025512.1 
    lizard
    (Anolis carolinensis)
    Reptilia FLNB6
    filamin B, beta
    85(a)
    1 ↔ 1
    2(163592191-163687981)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.47962 Xenopus laevis transcribed sequence with moderate similarity more 76.42(n)    CF546640.1 
    zebrafish
    (Danio rerio)
    Actinopterygii flna2 filamin A, alpha 73.82(n)   386760  57056433 
    fruit fly
    (Drosophila melanogaster)
    Insecta cher3 actin binding 52(a)
    (best of 2)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea C23F12.23 actin-binding 43(a)
    (best of 3)
      X(9432989-9443298)   --


    ENSEMBL Gene Tree for FLNB (if available)
    TreeFam Gene Tree for FLNB (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 FLNB gene
    FLNA2  FLNC2  
    8 SIMAP similar genes for FLNB using alignment to 4 protein entries:     FLNB_HUMAN (see all proteins):
    DKFZp686A1668    FLJ00119    LOC392787    FLNA    FLNC    MACF1
    HSpTB1    DMD

    FLNB for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for FLNB
    PGOHUM00000249055


    (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)
    About This Section

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    Selected SNPs for FLNB (see all 3888)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289375871,2,,4
    CAtelosteogenesis 3 (AO3)4 pathogenic158046761(+) GGCCAC/GGTGTG 8 R G mis1 ese30--------
    VAR_0359194
    A breast cancer sample4--see VAR_0359192 T K mis40--------
    VAR_0330844
    Larsen syndrome (LRS)4--see VAR_0330842 V D mis40--------
    VAR_0330814
    Larsen syndrome (LRS)4--see VAR_0330812 L R mis40--------
    VAR_0359204
    A breast cancer sample4--see VAR_0359202 A G mis40--------
    rs289397061,2,4
    Larsen syndrome (LRS)4--see VAR_0330832 mis40--------
    VAR_0330784
    Larsen syndrome (LRS)4--see VAR_0330782 G S mis40--------
    VAR_0330734
    Atelosteogenesis 1 (AO1)4--see VAR_0330732 S P mis40--------
    VAR_0330754
    Larsen syndrome (LRS)4--see VAR_0330752 E K mis40--------
    VAR_0330764
    Larsen syndrome (LRS)4--see VAR_0330762 L V mis40--------

    HapMap Linkage Disequilibrium report for FLNB (57994127 - 58157982 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for FLNB:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv992067CNV Insertion20482838
    nsv3837CNV Insertion18451855
    esv991656CNV Gain20482838
    nsv834703CNV Gain17160897
    nsv876830CNV Gain21882294
    nsv528147CNV Gain19592680
    esv8627OTHER Inversion19470904

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

    (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

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    OMIM gene information: 603381   
    OMIM disorders: 272460  150250  108720  108721  112310  
    UniProtKB/Swiss-Prot: FLNB_HUMAN, O75369
  • Note=Interaction with FLNA may compensate for dysfunctional FLNA homodimer in the periventricular nodular
    heterotopia (PVNH) disorder
  • Atelosteogenesis 1 (AO1) [MIM:108720]: A lethal chondrodysplasia characterized by distal hypoplasia of
    the humeri and femurs, hypoplasia of the mid-thoracic spine, occasionally complete lack of ossification of single
    hand bones, and the finding in cartilage of multiple degenerated chondrocytes which are encapsulated in fibrous
    tissue. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Atelosteogenesis 3 (AO3) [MIM:108721]: A short-limb lethal skeletal dysplasia with vertebral
    abnormalities, disharmonious skeletal maturation, poorly modeled long bones and joint dislocations. Recurrent
    respiratory insufficiency and/or infections usually result in early death. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Boomerang dysplasia (BOOMD) [MIM:112310]: A perinatal lethal osteochondrodysplasia characterized by
    absence or underossification of the limb bones and vertebrae. Patients manifest dwarfism with short, bowed, rigid
    limbs and characteristic facies. Boomerang dysplasia is distinguished from atelosteogenesis on the basis of a
    more severe defect in mineralization, with complete absence of ossification in some limb elements and vertebral
    segments. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Larsen syndrome (LRS) [MIM:150250]: An osteochondrodysplasia characterized by large-joint dislocations
    and characteristic craniofacial abnormalities. The cardinal features of the condition are dislocations of the
    hip, knee and elbow joints, with equinovarus or equinovalgus foot deformities. Spatula-shaped fingers, most
    marked in the thumb, are also present. Craniofacial anomalies include hypertelorism, prominence of the forehead,
    a depressed nasal bridge, and a flattened midface. Cleft palate and short stature are often associated features.
    Spinal anomalies include scoliosis and cervical kyphosis. Hearing loss is a well-recognized complication.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Spondylocarpotarsal synostosis syndrome (SCT) [MIM:272460]: Disorder characterized by short stature and
    vertebral, carpal and tarsal fusions. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • Selected diseases for FLNB (see all 68):    
    About MalaCards
    congenital knee dislocation    atelosteogenesis type 1    atelosteogenesis    flnb-related disorders
    spondylocarpotarsal synostosis syndrome    atelosteogenesis type 3    larsen syndrome    boomerang dysplasia
    subacute lymphocytic thyroiditis    scoliosis with unilateral unsegmented bar    synostosis    periventricular heterotopia
    hajdu-cheney syndrome    osteochondrodysplasia    periventricular nodular heterotopia    diffuse panbronchiolitis
    was-related disorders    autoimmune thyroiditis    thyroiditis    hypercholesterolemia

    5 diseases from the University of Copenhagen DISEASES database for FLNB:
    Larsen syndrome     Atelosteogenesis     Boomerang dysplasia     Subacute lymphocytic thyroiditis
    Synostosis

    FLNB for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for FLNB gene (see all 20)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    boomerang dysplasia 87.9 5 17510210 (2), 17360453 (1)
    larsens syndrome 86 14 16801345 (5), 16648377 (4), 17360453 (1), 16715218 (1) (see all 5)
    osteochondrodysplasias 72 2 16752402 (1)
    skeletal disorder 51.9 6 17360453 (2), 14991055 (1), 17510210 (1)
    skeletal dysplasia 47.1 6 17606870 (1), 19453265 (1)
    acute pancreatitis 41.4 9 11138966 (3), 7587786 (2), 11025364 (1)
    autoimmune thyroid disease 40.3 3 9548077 (1), 8327473 (1)
    genetic susceptibility 29.3 3 9027960 (1), 8727210 (1), 10323341 (1)
    pancreatitis 27.8 16 11138966 (6), 16293654 (2), 7587786 (2)
    graves disease 23.5 5 9027960 (3), 8327473 (1)

    GeneTests: FLNB
    GeneReviews: FLNB
    Genetic Association Database (GAD): FLNB
    Human Genome Epidemiology (HuGE) Navigator: FLNB (6 documents)

    Export disorders for FLNB 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 FLNB gene, integrated from 10 sources (see all 193):
    (articles sorted by number of sources associating them with FLNB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. (PubMed id 16801345)1, 2, 3, 9 Bicknell L.S.... Robertson S.P. (J. Med. Genet. 2007)
    2. Cloning from the thyroid of a protein related to actin binding protein that is recognized by Graves disease immunoglobulins. (PubMed id 8327473)1, 2, 3, 9 Leedman P.J.... Harrison L.C. (Proc. Natl. Acad. Sci. U.S.A. 1993)
    3. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. (PubMed id 14991055)1, 2, 3, 9 Krakow D.... Cohn D.H. (Nat. Genet. 2004)
    4. Common sequence variation in FLNB regulates bone structure in women in the general population and FLNB mRNA expression in osteoblasts in vitro. (PubMed id 19453265)1, 4, 9 Wilson S.G....Prince R.L. (J. Bone Miner. Res. 2009)
    5. Filamin A and filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact. (PubMed id 12393796)1, 2, 9 Sheen V.L.... Walsh C.A. (Hum. Mol. Genet. 2002)
    6. Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha. (PubMed id 9651345)1, 2, 9 Takafuta T.... Shapiro S.S. (J. Biol. Chem. 1998)
    7. Disease-associated substitutions in the filamin B actin binding domain confer enhanced actin binding affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin binding domains. (PubMed id 19505475)1, 2, 9 Sawyer G.M.... Sutherland-Smith A.J. (J. Mol. Biol. 2009)
    8. ISG15 modification of filamin B negatively regulates the type I interferon-induced JNK signalling pathway. (PubMed id 19270716)1, 2, 9 Jeon Y.J.... Chung C.H. (EMBO Rep. 2009)
    9. A new member of the LIM protein family binds to filamin B and localizes at stress fibers. (PubMed id 12496242)1, 2, 9 Takafuta T.... Shapiro S.S. (J. Biol. Chem. 2003)
    10. Different splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin (beta) subunits. (PubMed id 11807098)1, 2, 9 van Der Flier A.... Sonnenberg A. (J. Cell Biol. 2002)

    (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)
    About This Section

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    Entrez Gene: 2317 HGNC: 3755 AceView: FLNB Ensembl:ENSG00000136068 euGenes: HUgn2317
    ECgene: FLNB Kegg: 2317 H-InvDB: FLNB

    (According to HUGE)
    About This Section

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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)
    About This Section

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

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



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