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FLNB filamin B [ Homo sapiens (human) ]

Gene ID: 2317, updated on 3-Nov-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
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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 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. Cell-Dependent Pathogenic Roles of Filamin B in Different Skeletal Malformations. Wu H, et al. Oxid Med Cell Longev, 2022. PMID 35832491, Free PMC Article
  3. Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion. Quiggle A, et al. Clin Orthop Relat Res, 2022 Feb 1. PMID 34491919, Free PMC Article
  4. Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome. Fukushima K, et al. Genes (Basel), 2021 Apr 5. PMID 33916386, Free PMC Article
  5. circRNAome Profiling in Oral Carcinoma Unveils a Novel circFLNB that Mediates Tumour Growth-Regulating Transcriptional Response. Chen YT, et al. Cells, 2020 Aug 10. PMID 32785098, Free PMC Article

See all (244) 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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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

Gene LinkOut

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