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    FLNB filamin B [ Homo sapiens (human) ]

    Gene ID: 2317, updated on 10-Dec-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See FLNB in Genome Data Viewer
    Location:
    3p14.3
    Exon count:
    47
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (58008422..58172251)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (58048835..58212708)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (57994149..58157978)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57944346-57944927 Neighboring gene uncharacterized LOC105377104 Neighboring gene PPIAP16-FLNB intergenic CAGE-defined mid-level expression enhancer Neighboring gene peptidylprolyl isomerase A pseudogene 16 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57946764-57947718 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57947719-57948671 Neighboring gene Sharpr-MPRA regulatory region 380 Neighboring gene uncharacterized LOC124909385 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57958837-57959340 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57959341-57959842 Neighboring gene PPIAP16-FLNB intergenic CAGE-defined low expression enhancer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57983544-57984119 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:57999317-57999817 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57999844-58000357 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58000358-58000870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58000871-58001384 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58005500-58006482 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58006483-58007463 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58007464-58008445 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58020595-58021094 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:58023882-58024382 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58025201-58025780 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58027143-58027657 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58028173-58028686 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:58034417-58035616 Neighboring gene Sharpr-MPRA regulatory region 2534 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58040937-58041474 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58051153-58052030 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19998 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19999 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14485 Neighboring gene Sharpr-MPRA regulatory region 3708 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:58147281-58148480 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58149790-58150603 Neighboring gene Sharpr-MPRA regulatory region 1271 Neighboring gene uncharacterized LOC124909485 Neighboring gene FLNB antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20000 Neighboring gene uncharacterized LOC124909386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20002 Neighboring gene deoxyribonuclease 1L3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. F-actin clustering and cell dysmotility induced by the pathological W148R missense mutation of filamin B at the actin-binding domain. Zhao Y, et al. Am J Physiol Cell Physiol, 2016 Jan 1. PMID 26491051, Free PMC Article
    2. Skeletal Dysplasia Mutations Effect on Human Filamins' Structure and Mechanosensing. Seppälä J, et al. Sci Rep, 2017 Jun 26. PMID 28652603, Free PMC Article
    3. Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases. Bernkopf M, et al. Hum Mutat, 2017 Oct. PMID 28639312, Free PMC Article
    4. Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies. Yang CF, et al. Hum Mutat, 2017 May. PMID 28145000
    5. Differential expression of filamin B splice variants in giant cell tumor cells. Tsui JC, et al. Oncol Rep, 2016 Dec. PMID 27779699, Free PMC Article

    See all (245) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A novel variant in the FLNB gene associated with spondylocarpotarsal synostosis syndrome.
      Title: A novel variant in the FLNB gene associated with spondylocarpotarsal synostosis syndrome.
    2. ETS homologous factor, controlled by lysine-specific demethylase 5B, suppresses clear cell renal cell carcinoma by inducing Filamin-B.
      Title: ETS homologous factor, controlled by lysine-specific demethylase 5B, suppresses clear cell renal cell carcinoma by inducing Filamin-B.
    3. Filamin B restricts vaccinia virus spread and is targeted by vaccinia virus protein C4.
      Title: Filamin B restricts vaccinia virus spread and is targeted by vaccinia virus protein C4.
    4. Effect of disulfidptosis-related genes SLC3A2, SLC7A11 and FLNB polymorphisms on risk of autoimmune thyroiditis in a Chinese population.
      Title: Effect of disulfidptosis-related genes SLC3A2, SLC7A11 and FLNB polymorphisms on risk of autoimmune thyroiditis in a Chinese population.
    5. Actin-binding protein filamin B regulates the cell-surface retention of endothelial sphingosine 1-phosphate receptor 1.
      Title: Actin-binding protein filamin B regulates the cell-surface retention of endothelial sphingosine 1-phosphate receptor 1.
    6. Cell-Dependent Pathogenic Roles of Filamin B in Different Skeletal Malformations.
      Title: Cell-Dependent Pathogenic Roles of Filamin B in Different Skeletal Malformations.
    7. Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion.
      Title: Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion.
    8. The variants at FLNA and FLNB contribute to the susceptibility of hypertension and stroke with differentially expressed mRNA.
      Title: The variants at FLNA and FLNB contribute to the susceptibility of hypertension and stroke with differentially expressed mRNA.
    9. Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome.
      Title: Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome.
    10. Exome sequencing analysis identifies frequent oligogenic involvement and FLNB variants in adolescent idiopathic scoliosis.
      Title: Exome sequencing analysis identifies frequent oligogenic involvement and FLNB variants in adolescent idiopathic scoliosis.
    Submit: New GeneRIF Correction See all GeneRIFs (50)

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Atelosteogenesis type I
    MedGen: C0265283 OMIM: 108720 GeneReviews: FLNB Disorders
    		not available
    Atelosteogenesis type III
    MedGen: C3668942 OMIM: 108721 GeneReviews: FLNB Disorders
    		not available
    Boomerang dysplasia
    MedGen: C0432201 OMIM: 112310 GeneReviews: FLNB Disorders
    		not available
    Larsen syndrome
    MedGen: C0175778 OMIM: 150250 GeneReviews: FLNB Disorders
    		not available
    Spondylocarpotarsal synostosis syndrome
    MedGen: C1848934 OMIM: 272460 GeneReviews: FLNB Disorders
    		not available

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    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)

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    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_001164317.2 → NP_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/TrEMBL
      A0A804HK76
      Related
      ENSP00000420213.1, ENST00000490882.5
      Conserved Domains (4) summary
      smart00557
      Location:1328 → 1417
      IG_FLMN; Filamin-type immunoglobulin domains
      cd00014
      Location:17 → 121
      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:1037 → 1124
      Filamin; Filamin/ABP280 repeat
      cl23780
      Location:1749 → 1804
      PepSY_TM; PepSY-associated TM region

    2. NM_001164318.2 → NP_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/TrEMBL
      A0A804HK76
      Related
      ENSP00000415599.2, ENST00000429972.6
      Conserved Domains (3) summary
      smart00557
      Location:1421 → 1514
      IG_FLMN; Filamin-type immunoglobulin domains
      cd00014
      Location:17 → 121
      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:1037 → 1124
      Filamin; Filamin/ABP280 repeat

    3. NM_001164319.2 → 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, AC137936, AL699183
      Consensus CDS
      CCDS54601.1
      UniProtKB/TrEMBL
      A0A804HK76
      Related
      ENSP00000351339.3, ENST00000358537.7
      Conserved Domains (3) summary
      smart00557
      Location:1421 → 1514
      IG_FLMN; Filamin-type immunoglobulin domains
      cd00014
      Location:17 → 121
      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:1037 → 1124
      Filamin; Filamin/ABP280 repeat

    4. NM_001457.4 → NP_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
      B2ZZ83, B2ZZ84, B2ZZ85, C9JKE6, C9JMC4, O75369, Q13706, Q59EC2, Q60FE7, Q6MZJ1, Q8WXS9, Q8WXT0, Q8WXT1, Q8WXT2, Q8WXT3, Q9NRB5, Q9NT26, Q9UEV9
      UniProtKB/TrEMBL
      A0A804HK76
      Related
      ENSP00000295956.5, ENST00000295956.9
      Conserved Domains (4) summary
      smart00557
      Location:1421 → 1514
      IG_FLMN; Filamin-type immunoglobulin domains
      cd00014
      Location:17 → 121
      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:1037 → 1124
      Filamin; Filamin/ABP280 repeat
      cl23780
      Location:1718 → 1773
      PepSY_TM; PepSY-associated TM region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75369.2 GenPept UniProtKB/Swiss-Prot:O75369

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