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    FLNB filamin B [ Homo sapiens (human) ]

    Gene ID: 2317, updated on 5-Jan-2016
    Official Symbol
    FLNBprovided by HGNC
    Official Full Name
    filamin Bprovided by HGNC
    Primary source
    HGNC: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
    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]
    Orthologs
    See FLNB in Epigenomics, MapViewer
    Location:
    3p14.3
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (58008400..58172255)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (57994127..58157982)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377104 Neighboring gene peptidylprolyl isomerase A pseudogene 16 Neighboring gene uncharacterized LOC105377105 Neighboring gene uncharacterized LOC105377650 Neighboring gene deoxyribonuclease I-like 3 Neighboring gene abhydrolase domain containing 6

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2013-07-25)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2013-07-25)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

    Description
    Genetic variants associated with disordered eating.
    NHGRI GWA Catalog
    Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 promotes filamin binding to both CD4 and CXCR4 PubMed
    Nef nef Yeast two hybrid assay identifies the HIV-1 Nef-interacting protein filamin B PubMed
    Pr55(Gag) gag Cellular biotinylated filamin B, beta (FLNB) protein is incorporated into HIV-1 Gag virus-like particles PubMed
    Tat tat filamin B subunit beta (FLNB) is identified to interact with HIV-1 Tat mutant Nullbasic in HeLa cells by LC MS/MS PubMed
    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 Interaction Database

    • 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...
    • Proteoglycans in cancer, organism-specific biosystem (from KEGG)
      Proteoglycans in cancer, organism-specific biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
    • Proteoglycans in cancer, conserved biosystem (from KEGG)
      Proteoglycans in cancer, conserved biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp686O033, DKFZp686A1668

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    poly(A) RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    actin cytoskeleton organization 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 
    epithelial cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    keratinocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    skeletal muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Z disc IEA
    Inferred from Electronic Annotation
    more info
     
    actin cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    brush border IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    stress fiber IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    filamin-B
    Names
    ABP-280 homolog
    Larsen syndrome 1 (autosomal dominant)
    actin binding protein 278
    actin-binding-like protein
    beta-filamin
    filamin B, beta
    filamin homolog 1
    filamin-3
    thyroid autoantigen

    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_001164317.1NP_001157789.1  filamin-B isoform 1

      See identical proteins and their annotated locations for NP_001157789.1

      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
      UniProtKB/Swiss-Prot
      O75369
      Related
      ENSP00000420213, OTTHUMP00000214208, ENST00000490882, OTTHUMT00000353570
      Conserved Domains (2) summary
      smart00557
      Location:13281417
      IG_FLMN; Filamin-type immunoglobulin domains
      cd00014
      Location:17121
      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 ...
    2. NM_001164318.1NP_001157790.1  filamin-B isoform 3

      See identical proteins and their annotated locations for NP_001157790.1

      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
      UniProtKB/Swiss-Prot
      O75369
      Related
      ENSP00000415599, OTTHUMP00000214211, ENST00000429972, OTTHUMT00000353573
      Conserved Domains (2) summary
      smart00557
      Location:14211514
      IG_FLMN; Filamin-type immunoglobulin domains
      cd00014
      Location:17121
      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 ...
    3. NM_001164319.1NP_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 (2) summary
      smart00557
      Location:14211514
      IG_FLMN; Filamin-type immunoglobulin domains
      cd00014
      Location:17121
      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 ...
    4. NM_001457.3NP_001448.2  filamin-B isoform 2

      See identical proteins and their annotated locations for NP_001448.2

      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 (2) summary
      smart00557
      Location:14211514
      IG_FLMN; Filamin-type immunoglobulin domains
      cd00014
      Location:17121
      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 ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

      Range
      58008400..58172255
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005264977.1XP_005265034.1  

      Conserved Domains (2) summary
      smart00557
      Location:13281417
      IG_FLMN; Filamin-type immunoglobulin domains
      cd00014
      Location:17121
      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 ...
    2. XM_005264978.1XP_005265035.1  

      Conserved Domains (2) summary
      smart00557
      Location:13281417
      IG_FLMN; Filamin-type immunoglobulin domains
      cd00014
      Location:17121
      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 ...
    3. XM_005264981.1XP_005265038.1  

      Conserved Domains (2) summary
      smart00557
      Location:13281417
      IG_FLMN; Filamin-type immunoglobulin domains
      cd00014
      Location:17121
      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 ...

    RNA

    1. XR_940396.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      57944271..58108169
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)