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    FLNB filamin B, beta [ Homo sapiens ]

    Gene ID: 2317, updated on 20-May-2012
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    Summary

    Official Symbol
    FLNBprovided by HGNC
    Official Full Name
    filamin B, betaprovided by HGNC
    Primary source
    HGNC:3755
    See related
    Ensembl:ENSG00000136068; HPRD:04543; MIM:603381; Vega:OTTHUMG00000159158
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AOI; FH1; SCT; TAP; LRS1; TABP; FLN-B; FLN1L; ABP-278; ABP-280; DKFZp686O033; DKFZp686A1668
    Summary
    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]
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    Genomic context

    Location :
    3p14.3
    Sequence :
    Chromosome: 3; NC_000003.11 (57994127..58157982)
    See FLNB in Epigenomics, MapViewer

    Chromosome 3 - NC_000003.11Genomic Context describing neighboring genes Neighboring gene pyruvate dehydrogenase (lipoamide) alpha 1 pseudogene Neighboring gene sarcolemma associated protein Neighboring gene peptidylprolyl isomerase A (cyclophilin A) pseudogene 16 Neighboring gene FLNB antisense RNA 1 (non-protein coding) Neighboring gene deoxyribonuclease I-like 3 Neighboring gene abhydrolase domain containing 6

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. GPIbα regulates platelet size by controlling the subcellular localization of filamin. Kanaji T, et al. Blood, 2012 Mar 22. PMID 22174152.
    2. A cohesin-RAD21 interactome. Panigrahi AK, et al. Biochem J, 2012 Mar 15. PMID 22145905.
    3. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    4. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.

    See all (52) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. these data demonstrate that coordinated expression of GPIbalpha and filamin is required for efficient trafficking of either protein to the cell surface, and for production of normal-sized platelets.
      Title: GPIbα regulates platelet size by controlling the subcellular localization of filamin.
    2. Multiple single nucleotide polymorphisms and haplotypes in FLNB were significantly associated with bone mineral density, with the strongest association between lumbar spine BMD and rs9828717 (p = 0.005).
      Title: Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women.
    3. Maternal genes FLNB, HIC1 and ZNF189 were strongly associated with risk of clefting.
      Title: Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. findings suggest common variants in FLNB have effects on bone structure in women. Although the location of variants having effects is not entirely consistent, variation at 5' end of the gene may reflect effects on levels of FLNB transcription efficiency
      Title: Common sequence variation in FLNB regulates bone structure in women in the general population and FLNB mRNA expression in osteoblasts in vitro.
    6. High-resolution X-ray crystal structures of the human filamin B wild type actin-binding domain, plus W148R and M202V mutants.
      Title: 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.
    7. FLNB and SBF2 are associated with human stature.
      Title: Genome-wide association study identifies two novel loci containing FLNB and SBF2 genes underlying stature variation.
    8. anti-inflammatory activity of Serp-1 is mediated through modification of uPAR-linked beta-integrin and filamin B in monocytes, identifying this interaction as a central regulatory axis for inflammation
      Title: Myxoma viral serpin, Serp-1, inhibits human monocyte adhesion through regulation of actin-binding protein filamin B.
    9. These results establish a novel function of filamin B as a molecular scaffold in the JNK signaling pathway for type I IFN-induced apoptosis.
      Title: Filamin B serves as a molecular scaffold for type I interferon-induced c-Jun NH2-terminal kinase signaling pathway.
    10. ASB2 may regulate hematopoietic cell differentiation by modulating cell spreading and actin remodeling through targeting of filamins A and B for degradation.
      Title: ASB2 targets filamins A and B to proteasomal degradation.
    Submit: New GeneRIF Correction See all (19)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Atelosteogenesis, type I

    Atelosteogenesis, type III

    Boomerang dysplasia

    Larsen syndrome

    Spondylocarpotarsal synostosis syndrome

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    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol A number of focal adhesion plaque proteins are specifically cleaved by HIV-1 protease, including fimbrin, focal adhesion plaque kinase (FAK), talin, and, to a lesser extent, filamin, spectrin and fibronectin PubMed

    Go to the HIV-1, Human Protein Interaction Database

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    O75369 Activating transcription factor 7 interacting protein ATF7IP    HPRD  PubMed  
    O75369 Q8WUP2 FBLIM1    HPRD  PubMed  
    O75369 P21333 FLNA    HPRD  PubMed  
    O75369 O75369 FLNB    HPRD  PubMed  
    O75369 P07359 GP1BA    HPRD  PubMed  
    O75369 P05556 ITGB1    HPRD  PubMed  
    O75369 O15259 NPHP1    HPRD  PubMed  
    O75369 P49768 PSEN1    HPRD  PubMed  
    O75369 P49810 PSEN2    HPRD  PubMed  
    O75369 Q9HAU4 SMURF2    HPRD  PubMed  
    O75369 P16473 TSHR    HPRD  PubMed  
    BioGRID:108606 BioGRID:120128 FBLIM1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:108606 BioGRID:108605 FLNA    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:108606 BioGRID:115448 G3BP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108606 BioGRID:109073 GP1BA    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:108606 BioGRID:109894 ITGB1    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:108606 BioGRID:109896 ITGB3    BioGRID  PubMed Two-hybrid 
    BioGRID:108606 BioGRID:109900 ITGB6    BioGRID  PubMed Two-hybrid 
    BioGRID:108606 BioGRID:110927 NPHP1    BioGRID  PubMed Two-hybrid 
    BioGRID:108606 BioGRID:128638 OTUD1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108606 BioGRID:119355 PLEKHO1    BioGRID  PubMed Two-hybrid 
    BioGRID:108606 BioGRID:111642 PSEN1    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:108606 BioGRID:111643 PSEN2    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:108606 BioGRID:111822 RAD21    BioGRID  PubMed Two-hybrid 
    BioGRID:108606 BioGRID:113104 TSHR    BioGRID  PubMed Protein-peptide 
    BioGRID:108606 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Antiviral mechanism by IFN-stimulated genes, organism-specific biosystem (from REACTOME)
      Antiviral mechanism by IFN-stimulated genes, organism-specific biosystemThe ISG proteins generated by IFN pathways plays key roles in the induction of innate and adaptive immune responses.
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • Focal adhesion, organism-specific biosystem (from KEGG)
      Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, conserved biosystem (from KEGG)
      Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • ISG15 antiviral mechanism, organism-specific biosystem (from REACTOME)
      ISG15 antiviral mechanism, organism-specific biosystemInterferon-stimulated gene 15 (ISG15) is a member of the ubiquitin-like (Ubl) family. It is strongly induced upon exposure to type I Interferons (IFNs), viruses, bacterial LPS, and other stresses. On...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Interferon Signaling, organism-specific biosystem (from REACTOME)
      Interferon Signaling, organism-specific biosystemInterferons (IFNs) are cytokines that play a central role in initiating immune responses, especially antiviral and antitumor effects. There are three types of IFNs:Type I (IFN-alpha, -beta and others...
    • MAPK signaling pathway, organism-specific biosystem (from KEGG)
      MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, conserved biosystem (from KEGG)
      MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • Salmonella infection, organism-specific biosystem (from KEGG)
      Salmonella infection, organism-specific biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
    • Salmonella infection, conserved biosystem (from KEGG)
      Salmonella infection, conserved biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    actin binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    actin cytoskeleton organization TAS
    Traceable Author Statement
    more info
    		 PubMed 
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytokine-mediated signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    cytoskeletal anchoring at plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    multicellular organismal development IEA
    Inferred from Electronic Annotation
    more info
    		  
    muscle organ development IEA
    Inferred from Electronic Annotation
    more info
    		  
    signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    Z disc IEA
    Inferred from Electronic Annotation
    more info
    		  
    actin cytoskeleton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    cell cortex IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    integral to membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    filamin-B
    Names
    filamin-B
    filamin-3
    beta-filamin
    ABP-280 homolog
    filamin homolog 1
    thyroid autoantigen
    actin binding protein 278
    actin-binding-like protein
    Larsen syndrome 1 (autosomal dominant)
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012801.1 RefSeqGene

      Range
      5001..168856
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001164317.1 → NP_001157789.1  filamin-B isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
      Source sequence(s)
      AB371580, AC114399, AC137936
      Consensus CDS
      CCDS54599.1
      Related
      ENSP00000420213, OTTHUMP00000214208, ENST00000490882, OTTHUMT00000353570
      Conserved Domains (3) summary
      cd00014
      Location:17 – 121
      Blast Score: 247
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      smart00557
      Location:1855 – 1941
      Blast Score: 288
      IG_FLMN; Filamin-type immunoglobulin domains
      pfam00630
      Location:1037 – 1124
      Blast Score: 249
      Filamin; Filamin/ABP280 repeat

    2. NM_001164318.1 → NP_001157790.1  filamin-B isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon and uses an alternate splice site in the 3' coding region compared to variant 1. The resulting protein (isoform 3) is shorter compared to isoform 1.
      Source sequence(s)
      AB191258, AC114399, AC137936
      Consensus CDS
      CCDS54600.1
      Related
      ENSP00000415599, OTTHUMP00000214211, ENST00000429972, OTTHUMT00000353573
      Conserved Domains (3) summary
      cd00014
      Location:17 – 121
      Blast Score: 248
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      smart00557
      Location:1813 – 1899
      Blast Score: 288
      IG_FLMN; Filamin-type immunoglobulin domains
      pfam00630
      Location:1037 – 1124
      Blast Score: 249
      Filamin; Filamin/ABP280 repeat

    3. NM_001164319.1 → NP_001157791.1  filamin-B isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate in-frame exons in the 3' coding regions compared to variant 1. The resulting protein (isoform 4) is shorter compared to isoform 1.
      Source sequence(s)
      AB371581, AC114399, AC137936, AL699183
      Consensus CDS
      CCDS54601.1
      UniProtKB/Swiss-Prot
      O75369
      Related
      ENSP00000351339, OTTHUMP00000214209, ENST00000358537, OTTHUMT00000353571
      Conserved Domains (3) summary
      cd00014
      Location:17 – 121
      Blast Score: 248
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      smart00557
      Location:1800 – 1886
      Blast Score: 288
      IG_FLMN; Filamin-type immunoglobulin domains
      pfam00630
      Location:1037 – 1124
      Blast Score: 249
      Filamin; Filamin/ABP280 repeat

    4. NM_001457.3 → NP_001448.2  filamin-B isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
      Source sequence(s)
      AB209889, AB371582, AC137936, AF043045
      Consensus CDS
      CCDS2885.1
      UniProtKB/Swiss-Prot
      O75369
      Related
      ENSP00000295956, OTTHUMP00000214207, ENST00000295956, OTTHUMT00000353569
      Conserved Domains (3) summary
      cd00014
      Location:17 – 121
      Blast Score: 248
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      smart00557
      Location:1824 – 1910
      Blast Score: 288
      IG_FLMN; Filamin-type immunoglobulin domains
      pfam00630
      Location:1037 – 1124
      Blast Score: 249
      Filamin; Filamin/ABP280 repeat

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000003.11 Reference GRCh37.p5 Primary Assembly

      Range
      57994127..58157982
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000135.1 Alternate HuRef

      Range
      58091507..58255398
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC114399.2 (92159..180947) None
    genomic AC137936.3 (43162..118228) None
    genomic AF191633.1 AAF72339.1
    genomic AF353667.1 AAL68440.1
      AAL68441.1
      AAL68442.1
      AAL68443.1
    genomic CH471055.1 EAW65352.1
      EAW65353.1
      EAW65354.1
      EAW65355.1
      EAW65356.1
      EAW65357.1
    mRNA AB191258.1 BAD52434.1
    mRNA AB209889.1 BAD93126.1
    mRNA AB371580.1 BAG48309.1
    mRNA AB371581.1 BAG48310.1
    mRNA AB371582.1 BAG48311.1
    mRNA AF042166.1 AAC39842.1
    mRNA AF043045.1 AAC33845.1
    mRNA AF238609.1 AAF97046.1
    mRNA AF353666.1 AAL68439.1
    mRNA AK022486.1 None
    mRNA AL137574.1 CAB70818.1
    mRNA AL699183.1 None
    mRNA AL833551.1 None
    mRNA BX641085.1 CAE46040.1
    mRNA CR749793.1 CAH18654.1
    mRNA M62994.1 AAA35505.1
    other-genetic BC156184.1 AAI56185.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75369.2 GenPept UniProtKB/Swiss-Prot:O75369
    Q68CT4 GenPept UniProtKB/TrEMBL:Q68CT4
    Q8WXT3 GenPept UniProtKB/TrEMBL:Q8WXT3
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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