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    FLNB filamin B [ Homo sapiens (human) ]

    Gene ID: 2317, updated on 22-Sep-2022

    Summary

    Official Symbol
    FLNBprovided by HGNC
    Official Full Name
    filamin Bprovided by HGNC
    Primary source
    HGNC:HGNC:3755
    See related
    Ensembl:ENSG00000136068 MIM:603381; AllianceGenome:HGNC:3755
    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]
    Expression
    Ubiquitous expression in colon (RPKM 41.4), prostate (RPKM 35.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FLNB in Genome Data Viewer
    Location:
    3p14.3
    Exon count:
    47
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (58008422..58172251)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (58048835..58212708)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (57994149..58157978)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377104 Neighboring gene Sharpr-MPRA regulatory region 380 Neighboring gene uncharacterized LOC124909385 Neighboring gene PPIAP16-FLNB intergenic CAGE-defined low expression enhancer Neighboring gene Sharpr-MPRA regulatory region 2534 Neighboring gene Sharpr-MPRA regulatory region 3708 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:58147281-58148480 Neighboring gene Sharpr-MPRA regulatory region 1271 Neighboring gene uncharacterized LOC124909485 Neighboring gene FLNB antisense RNA 1 Neighboring gene uncharacterized LOC124909386 Neighboring gene deoxyribonuclease 1 like 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    EBI GWAS Catalog

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

    HIV-1 interactions

    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
    Vpr vpr HIV-1 Vpr upregulates FLNB in HeLa cells within 12 hours of exposure 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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp686O033, DKFZp686A1668

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables actin binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables actin filament binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cadherin binding HDA PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to type II interferon IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epithelial cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in keratinocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in skeletal muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Z disc IEA
    Inferred from Electronic Annotation
    more info
     
    located_in actin cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in brush border IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell cortex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm HDA PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in focal adhesion HDA PubMed 
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in phagocytic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in stress fiber IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5023..168852
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001164317.2NP_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, AC137936
      Consensus CDS
      CCDS54599.1
      UniProtKB/Swiss-Prot
      O75369
      Related
      ENSP00000420213.1, ENST00000490882.5
      Conserved Domains (4) 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 ...
      pfam00630
      Location:10371124
      Filamin; Filamin/ABP280 repeat
      cl23780
      Location:17491804
      PepSY_TM; PepSY-associated TM region
    2. NM_001164318.2NP_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, AC137936
      Consensus CDS
      CCDS54600.1
      UniProtKB/Swiss-Prot
      O75369
      Related
      ENSP00000415599.2, ENST00000429972.6
      Conserved Domains (3) 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 ...
      pfam00630
      Location:10371124
      Filamin; Filamin/ABP280 repeat
    3. NM_001164319.2NP_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, AC137936, AL699183
      Consensus CDS
      CCDS54601.1
      UniProtKB/Swiss-Prot
      O75369
      Related
      ENSP00000351339.3, ENST00000358537.7
      Conserved Domains (3) 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 ...
      pfam00630
      Location:10371124
      Filamin; Filamin/ABP280 repeat
    4. NM_001457.4NP_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, Q9UEV9
      Related
      ENSP00000295956.5, ENST00000295956.9
      Conserved Domains (4) 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 ...
      pfam00630
      Location:10371124
      Filamin; Filamin/ABP280 repeat
      cl23780
      Location:17181773
      PepSY_TM; PepSY-associated TM region

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      58008422..58172251
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      58048835..58212708
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)