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FLNB filamin B [ Homo sapiens (human) ]

Gene ID: 2317, updated on 11-Sep-2019

Summary

Official Symbol
FLNBprovided by HGNC
Official Full Name
filamin Bprovided by HGNC
Primary source
HGNC:HGNC:3755
See related
Ensembl:ENSG00000136068 MIM:603381
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

Genomic context

See FLNB in Genome Data Viewer
Location:
3p14.3
Exon count:
47
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (58008422..58172251)
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 PPIAP16-FLNB intergenic CAGE-defined mid-level expression enhancer Neighboring gene PPIAP16-FLNB intergenic CAGE-defined low expression enhancer Neighboring gene Sharpr-MPRA regulatory region 2534 Neighboring gene Sharpr-MPRA regulatory region 12305 Neighboring gene Sharpr-MPRA regulatory region 1271 Neighboring gene FLNB antisense RNA 1 Neighboring gene uncharacterized LOC105377650 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

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

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 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...
  • 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...

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
RNA binding HDA PubMed 
actin binding NAS
Non-traceable Author Statement
more info
PubMed 
cadherin binding HDA 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 IEA
Inferred from Electronic Annotation
more info
 
cellular response to interferon-gamma IEA
Inferred from Electronic Annotation
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 HDA PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
focal adhesion HDA PubMed 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
phagocytic vesicle IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
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)

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
    Related
    ENSP00000295956.4, ENST00000295956.8
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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