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

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)
 Explore 64 diseases affiliated with
FLNB via
MalaCards
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 Human Malady Compendium 
Biological research products
for FLNB    

Aliases
for FLNB gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Filamin B, Beta1 2     SCT2 5
ABP-2781 2 3     Filamin B, Beta (Actin Binding Protein 278)1
FLN1L1 2 3     ABP-2802
TABP1 2 3     Actin Binding Protein 2782
TAP1 2 3     Beta-Filamin1
LRS11 2 5     Filamin-33
FH11 2     Filamin-B1
Larsen Syndrome 1 (Autosomal Dominant)1 2     Beta-Filamin1
Actin-Binding-Like Protein2 3     FLN33
Filamin Homolog 12 3     Fh13
Thyroid Autoantigen2 3     Filamin-33
FLN-B2 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


Summaries
for FLNB 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 FLNB:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the 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 plasmid: FLNB promoter sequence
   Search SABiosciences Chromatin IP Primers for FLNB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for FLNB 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: FLNB_HUMAN, O75369 (See protein sequence)
Recommended Name: Filamin-B  
Size: 2602 amino acids; 278164 Da
Subunit: Homodimer. 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
Subcellular location: 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
Subcellular location: Isoform 2: Cytoplasm, cytoskeleton. Note=Predominantly localized at actin stress fibers
Subcellular location: Isoform 3: Cytoplasm, cytoskeleton. Note=Predominantly localized at actin stress fibers
Subcellular location: Isoform 6: Cytoplasm, cytoskeleton. Note=Polarized at the periphery of myotubes
Sequence caution: Sequence=AAA35505.1; Type=Frameshift; Positions=2432, 2589;
6/22 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

Post-translational modifications:

  • ISGylation prevents ability to interact with the upstream activators of the JNK cascade and inhibits IFNA-induced JNK
    • signaling1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75369

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

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

    ENSEMBL proteins: 
     ENSP00000295956   ENSP00000420213   ENSP00000351339   ENSP00000415599   ENSP00000418510  
     ENSP00000420199   ENSP00000419954   ENSP00000232447   ENSP00000349819   ENSP00000414532  
    Reactome Protein details: O75369
    Human Recombinant Protein Products: 
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    Uscn Proteins for FLNB

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001725stress fiber IEA--
    GO:0005634nucleus ----
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA--


    FLNB for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for FLNB

    Protein Domains /
    Families
    for FLNB gene

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

    5/6 InterPro domains/families (see all 6):
     IPR001298 Filamin
     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 families:
    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


    Function
    for FLNB 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: 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

    miRNA
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    8/14 QIAGEN miScript miRNA 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 plasmid: FLNB 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FLNB (see all 7)
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FLNB

    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding NAS8327473
    GO:0005515protein binding IPI10644691
    GO:0042802identical protein binding IPI12393796


    FLNB for ontologies           About GeneDecksing


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

    FLNB for phenotypes           About GeneDecksing


    Pathways & Interactions
    for FLNB 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 - 5/11 super-pathways (see all 11) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cytokine Signaling in Immune system
    		Cytokine Signaling in Immune system1.00
    		Interferon Signaling0.61
    2wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
    		wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)1.00
    		Regulation of CFTR activity (norm and CF)0.38
    3Translocation of Influenza A virus nonstructural protein 1 (NS1A) into the nucleus
    		ISG15 antiviral mechanism0.49
    		Antiviral mechanism by IFN-stimulated genes0.49
    4Cytoskeletal Signaling
    		Cytoskeletal Signaling1.00
    5Immune System
    		Immune System1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 Downloadable PowerPoint Slides of QIAGEN 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)

    5        Reactome Pathways for FLNB
        Antiviral mechanism by IFN-stimulated genes
    Cytokine Signaling in Immune system
    Interferon Signaling
    ISG15 antiviral mechanism
    Immune System


    2         Kegg Pathways  (Kegg details for FLNB):
        MAPK signaling pathway
    Focal adhesion


    FLNB for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FLNB

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

    5/67 Interacting proteins for FLNB (O753691, 2, 3 ENSP000002959564) via UniProtKB, MINT, STRING, and/or I2D (see all 67)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PSEN1P497682, 3, ENSP000003263664MINT-15987 MINT-15986 I2D: score=4 STRING: ENSP00000326366
    MAP3K1Q132332, 3, ENSP000003824234MINT-7288768 MINT-7288718 I2D: score=1 STRING: ENSP00000382423
    MAP3K4Q9Y6R42, 3, ENSP000003759864MINT-7288768 MINT-7288733 I2D: score=1 STRING: ENSP00000375986
    PIK3R1P279862, 3, ENSP000002743354MINT-8111967 I2D: score=3 STRING: ENSP00000274335
    PLCG1P191742, 3, ENSP000002440074MINT-8112555 I2D: score=3 STRING: ENSP00000244007
    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:0007016cytoskeletal anchoring at plasma membrane TAS9694715
    GO:0007165signal transduction TAS8327473
    GO:0007517muscle organ development ----
    GO:0007519skeletal muscle tissue development IEA--
    GO:0019221cytokine-mediated signaling pathway TAS--


    FLNB for ontologies           About GeneDecksing



    Drugs & Compounds
    for FLNB 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

    FLNB for compounds           About GeneDecksing

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

    Browse Tocris compounds for FLNB
    2 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about FLNB 

    Transcripts
    for FLNB 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 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:
    ENST00000295956 ENST00000490882 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)

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    SwitchGear 3'UTR luciferase reporter plasmid: FLNB 3' UTR sequence
    Inhib. RNA
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    Additional cDNA 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 

    24/38 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 

    24/732 AceView cDNA sequences (see all 732):

    BQ926473 BQ574258 AA865711 AI680277 AI817824 AA912786 BX473956 BM770029 
    CB321632 AI199163 AI571705 BF001187 AA933032 BX642884 CB124602 CB217110 
    CB125253 AL699183 AW369042 CB125590 AA872022 BM825841 T83619 BU678187 

    GeneLoc Exon Structure

    5/12 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

    Expression
    for FLNB 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

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

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

    FLNB expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    SomiteLumbar Vertebral BodySomite
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including FLNB: 
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    In Situ
    Assay Products:     
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    Orthologs
    for FLNB 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 FLNB gene from 6/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 85(a)
    		 1 ↔ 1
    		 2(163592634-163687981)
    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
    for FLNB gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FLNB gene
    FLNA2  FLNC2  
    9 SIMAP similar genes for FLNB using alignment to 4 protein entries:     FLNB_HUMAN (see all proteins):
    DKFZp686A1668    FLJ00119    LOC392787    FLNA    FLNC    MACF1
    UTRN    HSpTB1    DMD

    FLNB for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for FLNB
    PGOHUM00000249055


    Genomic Variants
    for FLNB 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

    10/3175 NCBI SNPs in FLNB are shown (see all 3175)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs803565211,2
    		Cpathogenic74298770(+) AGCCC-/CTCTGG 8 P fra10--------
    rs803565031,2
    		Cpathogenic74313692(+) GCTTCA/GGTGGT 8 S G mis10--------
    rs803565201,2
    		Cpathogenic74316058(+) GCATCC/TGAGCC 8 R * stg10--------
    rs803565131,2
    		Cpathogenic74316121(+) AGACTA/GGGCGC 8 R G mis10--------
    rs803565191,2
    		Cpathogenic74342049(+) CTGGGC/TGATAC 8 R * stg10--------
    rs289375871,2
    		Cpathogenic74342560(+) GGCCAG/CGTGTG 8 /R /G mis1 ese32Minor allele frequency- C:0.00NA 4
    rs803565081,2
    		Cpathogenic74370548(+) TGGACA/GAGCAC 8 K E mis10--------
    rs803564941,2
    		Cpathogenic74374952(+) AGCCCA/G/TGGGAG 12 Q R L mis10--------
    rs803565061,2
    		Cpathogenic74374982(+) CAACTG/TTAACC 8 C F mis10--------
    rs1459397101,2
    		--57992217(+) CCCGAC/GTTGAA 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for FLNB (57994127 - 58157982 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for FLNB
         1 Inversion: 59782
    Human Gene Mutation Database (HGMD): FLNB

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

    Disorders / Diseases
    for FLNB 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
    FLNB for disorders           About GeneDecksing

    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
  • Defects in FLNB are the cause of atelosteogenesis type 1 (AO1) [MIM:108720]; also known as giant cell
    • chondrodysplasia or spondylohumerofemoral hypoplasia. Atelosteogenesis are lethal short-limb skeletal dysplasias with
    vertebral abnormalities, disharmonious skeletal maturation, poorly modeled long bones and joint dislocations
  • Defects in FLNB are the cause of atelosteogenesis type 3 (AO3) [MIM:108721]. Atelosteogenesis are short-limb
    • lethal skeletal dysplasias with vertebral abnormalities, disharmonious skeletal maturation, poorly modeled long bones
    and joint dislocations. In AO3 recurrent respiratory insufficiency and/or infections usually result in early death
  • Defects in FLNB are the cause of boomerang dysplasia (BOOMD) [MIM:112310]. This is a perinatal lethal
    • osteochondrodysplasia characterized by absence or underossification of the limb bones and vertebre. Boomerang
    dysplasia is distinguished from atelosteogenesis on the basis of a more severe defect in mineralisation, with complete
    absence of ossification in some limb elements and vertebral segments
  • Defects in FLNB are the cause of 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
  • Defects in FLNB are the cause of spondylocarpotarsal synostosis syndrome (SCT) [MIM:272460]; also known as
    • spondylocarpotarsal syndrome (SCT) or congenital synspondylism or vertebral fusion with carpal coalition or congenital
    scoliosis with unilateral unsegmented bar. The disorder is characterized by short stature and vertebral, carpal and
    tarsal fusions

    20/64 diseases for FLNB (see all 64):    About MalaCards
    larsen syndrome    spondylocarpotarsal synostosis syndrome    boomerang dysplasia    atelosteogenesis
    atelosteogenesis type 1    scoliosis with unilateral unsegmented bar    synostosis    hajdu-cheney syndrome
    atelostogenesis, type i    flnb-related disorders    atelostogenesis    periventricular nodular heterotopia
    atelosteogenesis type 3    periventricular heterotopia    thyroiditis    craniofacial abnormalities
    heterotopia    type 1 diabetes mellitus    osteochondrodysplasia    diffuse panbronchiolitis

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

    10/20 Novoseek 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
    FLNB-Related Disorders

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

    Export disorders for FLNB gene to outside databases

    Publications
    for FLNB 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 FLNB gene, integrated from 9 sources (see all 178):
    (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. (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. (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. (2004)
    4. 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. (2002)
    5. 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. (1998)
    6. Disease-associated substitutions in the filamin B act in binding domain confer enhanced actin binding affinity in the absence of majo r structural disturbance: Insights from the crystal structures of filamin B act in binding domains. (PubMed id 19505475)1, 2, 9 Sawyer G.M....Sutherland-Smith A.J. (2009)
    7. 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. (2009)
    8. 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. (2003)
    9. 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. (2002)
    10. Interaction of presenilins with the filamin family of actin-binding proteins. (PubMed id 9437013)1, 2, 9 Zhang W.... Wu J.Y. (1998)

    External Searches for FLNB gene

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

    Genome Databases showing FLNB gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2317 HGNC: 3755 AceView: FLNB Ensembl:ENSG00000136068 euGenes: HUgn2317
    ECgene: FLNB Kegg: 2317 H-InvDB: FLNB

    Other Databases showing FLNB gene

    (According to HUGE)
    About This Section
    		   --

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

    Intellectual Property
    for FLNB gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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