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FLNA filamin A [ Homo sapiens (human) ]

Gene ID: 2316, updated on 11-Sep-2019

Summary

Official Symbol
FLNAprovided by HGNC
Official Full Name
filamin Aprovided by HGNC
Primary source
HGNC:HGNC:3754
See related
Ensembl:ENSG00000196924 MIM:300017
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
FLN; FMD; MNS; OPD; ABPX; CSBS; CVD1; FGS2; FLN1; NHBP; OPD1; OPD2; XLVD; XMVD; FLN-A; ABP-280
Summary
The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]
Expression
Broad expression in endometrium (RPKM 345.6), esophagus (RPKM 285.0) and 22 other tissues See more
Orthologs

Genomic context

See FLNA in Genome Data Viewer
Location:
Xq28
Exon count:
48
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (154348531..154374638, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153576900..153603006, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene transketolase like 1 Neighboring gene uncharacterized LOC105373386 Neighboring gene Xq28 proximal FLNA-EMD recombination region Neighboring gene Xq28 distal FLNA-EMD recombination region Neighboring gene emerin

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

Associated conditions

Description Tests
Cardiac valvular dysplasia, X-linked
MedGen: C0262436 OMIM: 314400 GeneReviews: Not available
Compare labs
FG syndrome 2
MedGen: C1845902 OMIM: 300321 GeneReviews: Not available
Compare labs
Frontometaphyseal dysplasia Compare labs
Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
MedGen: C2746068 OMIM: 300048 GeneReviews: Not available
Compare labs
Melnick-Needles syndrome Compare labs
Oto-palato-digital syndrome, type I Compare labs
Oto-palato-digital syndrome, type II Compare labs
Periventricular nodular heterotopia 1 Compare labs
Terminal osseous dysplasia
MedGen: C1846129 OMIM: 300244 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-04-26)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-26)

ClinGen Genome Curation PagePubMed

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify filamin A (FLNA), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
env Filamin-A-dependent activation of the RhoA-ROCK-LIMK-cofilin pathway is a major event in HIV-1 gp120-induced receptor clustering PubMed
env HIV-1 gp120 promotes filamin binding to both CD4 and CXCR4 PubMed
Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify filamin A (FLNA), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Nef nef Tandem affinity purification and mass spectrometry analysis identify filamin A (FLNA), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Pr55(Gag) gag Cellular biotinylated filamin A, alpha (FLNA) protein is incorporated into HIV-1 Gag virus-like particles PubMed
gag Tandem affinity purification and mass spectrometry analysis identify filamin A (FLNA), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
gag HIV-1 Gag binds to filamin A through the CA domain, which leads to facilitate Gag trafficking to the plasma membrane PubMed
gag HIV-1 Gag co-localizes with filamin A in mammalian cells. Depletion of filamin A inhibits HIV-1 particle release and induces Gag accumulation at the LE/MVB compartment PubMed
Tat tat Filamin A, alpha (FLNA) is identified to interact with HIV-1 Tat mutant Nullbasic in HeLa cells by LC MS/MS PubMed
tat Expression of HIV-1 Tat upregulates the abundance of filamin A, alpha (FLNA) in the nucleoli of Jurkat T-cells PubMed
Vpr vpr HIV-1 Vpr upregulates FLNA 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

  • Androgen receptor signaling pathway, organism-specific biosystem (from WikiPathways)
    Androgen receptor signaling pathway, organism-specific biosystemAndrogens, mainly testosterone and 5alpha-dihydrotestosterone (DHT) play significant role in the growth and development of the male reproductive organs. These steroid hormones bring about their biolo...
  • Cell junction organization, organism-specific biosystem (from REACTOME)
    Cell junction organization, organism-specific biosystem
    Cell junction organization
  • Cell-Cell communication, organism-specific biosystem (from REACTOME)
    Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
  • Cell-extracellular matrix interactions, organism-specific biosystem (from REACTOME)
    Cell-extracellular matrix interactions, organism-specific biosystemCell-extracellular matrix (ECM) interactions play a critical role in regulating a variety of cellular processes in multicellular organisms including motility, shape change, survival, proliferation an...
  • Focal Adhesion, organism-specific biosystem (from WikiPathways)
    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, 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...
  • GP1b-IX-V activation signalling, organism-specific biosystem (from REACTOME)
    GP1b-IX-V activation signalling, organism-specific biosystemThe platelet GPIb complex (GP1b-IX-V) together with GPVI are primarily responsible for regulating the initial adhesion of platelets to the damaged blood vessel and platelet activation. The importance...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Hypothesized Pathways in Pathogenesis of Cardiovascular Disease, organism-specific biosystem (from WikiPathways)
    Hypothesized Pathways in Pathogenesis of Cardiovascular Disease, organism-specific biosystemThe pathways hypothesized to be involved in cardiovascular diseases begin with LTBPs and Fibrillins activating a TGFBR complex. The complex can begin the canonical TGFB pathway involving SMAD protei...
  • IL-4 Signaling Pathway, organism-specific biosystem (from WikiPathways)
    IL-4 Signaling Pathway, organism-specific biosystemIL-4 is a glycoprotein which is composed of 129 amino acids and has a molecular weight of 20kDa. IL-4 and IL-13 are produced by CD4+ cells and exhibit significant functional overlap. Both these cytok...
  • MAPK Signaling Pathway, organism-specific biosystem (from WikiPathways)
    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, 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...
  • Noncanonical Wnt signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    Noncanonical Wnt signaling pathway, organism-specific biosystem
    Noncanonical Wnt signaling pathway
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
  • Platelet degranulation, organism-specific biosystem (from REACTOME)
    Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
  • Prolactin Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Prolactin Signaling Pathway, organism-specific biosystemProlactin (PRL), a pleiotropic polypeptide hormone, mostly secreted by the lactotrophic cells of anterior pituitary gland and to a lesser extent expressed in numerous extra pituitary tissues such as ...
  • 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...
  • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
    RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
  • RHO GTPases activate PAKs, organism-specific biosystem (from REACTOME)
    RHO GTPases activate PAKs, organism-specific biosystemThe PAKs (p21-activated kinases) are a family of serine/threonine kinases mainly implicated in cytoskeletal rearrangements. All PAKs share a conserved catalytic domain located at the carboxyl terminu...
  • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
    Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
  • 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...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
  • TCR signaling in naive CD4+ T cells, organism-specific biosystem (from Pathway Interaction Database)
    TCR signaling in naive CD4+ T cells, organism-specific biosystem
    TCR signaling in naive CD4+ T cells

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ43642, DKFZp434P031

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Fc-gamma receptor I complex binding IDA
Inferred from Direct Assay
more info
PubMed 
G protein-coupled receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
RNA binding HDA PubMed 
Rac GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
Ral GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
Rho GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
SMAD binding IEA
Inferred from Electronic Annotation
more info
 
actin filament binding IDA
Inferred from Direct Assay
more info
PubMed 
cadherin binding HDA PubMed 
ion channel binding IPI
Inferred from Physical Interaction
more info
PubMed 
kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
mu-type opioid receptor binding IEA
Inferred from Electronic Annotation
more info
 
potassium channel regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
small GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
actin crosslink formation IDA
Inferred from Direct Assay
more info
PubMed 
actin cytoskeleton reorganization IDA
Inferred from Direct Assay
more info
PubMed 
adenylate cyclase-inhibiting dopamine receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell junction assembly TAS
Traceable Author Statement
more info
 
cerebral cortex development IEA
Inferred from Electronic Annotation
more info
 
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytoplasmic sequestering of protein IMP
Inferred from Mutant Phenotype
more info
PubMed 
defense response to virus TAS
Traceable Author Statement
more info
 
establishment of Sertoli cell barrier IEA
Inferred from Electronic Annotation
more info
 
establishment of protein localization IDA
Inferred from Direct Assay
more info
PubMed 
formation of radial glial scaffolds IEA
Inferred from Electronic Annotation
more info
 
mRNA transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
mitotic spindle assembly IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription by RNA polymerase I IDA
Inferred from Direct Assay
more info
PubMed 
platelet activation TAS
Traceable Author Statement
more info
 
platelet aggregation HMP PubMed 
platelet degranulation TAS
Traceable Author Statement
more info
 
positive regulation of I-kappaB kinase/NF-kappaB signaling HMP PubMed 
positive regulation of actin filament bundle assembly IEA
Inferred from Electronic Annotation
more info
 
positive regulation of integrin-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of neural precursor cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuron migration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein import into nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of substrate adhesion-dependent cell spreading IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to bicellular tight junction IEA
Inferred from Electronic Annotation
more info
 
protein localization to cell surface IDA
Inferred from Direct Assay
more info
PubMed 
protein localization to plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
protein stabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
receptor clustering IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
regulation of membrane repolarization during atrial cardiac muscle cell action potential IC
Inferred by Curator
more info
 
regulation of membrane repolarization during cardiac muscle cell action potential ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
semaphorin-plexin signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
wound healing, spreading of cells IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Myb complex IDA
Inferred from Direct Assay
more info
PubMed 
Z disc ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
actin cytoskeleton IC
Inferred by Curator
more info
PubMed 
actin cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
actin filament IEA
Inferred from Electronic Annotation
more info
 
apical dendrite IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
cortical cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
dendritic shaft IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
focal adhesion HDA PubMed 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
nucleolus IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
postsynapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
filamin-A
Names
actin binding protein 280
alpha-filamin
endothelial actin-binding protein
epididymis secretory sperm binding protein
filamin A, alpha
filamin-1
non-muscle filamin

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_011506.2 RefSeqGene

    Range
    5005..31108
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001110556.2NP_001104026.1  filamin-A isoform 2

    See identical proteins and their annotated locations for NP_001104026.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an alternate in-frame exon and encodes a slightly longer protein isoform (2).
    Source sequence(s)
    AB191260, AL050396, BP235228, X53416
    Consensus CDS
    CCDS48194.1
    UniProtKB/Swiss-Prot
    P21333
    UniProtKB/TrEMBL
    Q60FE5, Q6NXF2
    Related
    ENSP00000358866.3, ENST00000369850.10
    Conserved Domains (4) summary
    smart00033
    Location:172264
    CH; Calponin homology domain
    smart00557
    Location:14481542
    IG_FLMN; Filamin-type immunoglobulin domains
    cd00014
    Location:44148
    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:14451536
    Filamin; Filamin/ABP280 repeat
  2. NM_001456.3NP_001447.2  filamin-A isoform 1

    See identical proteins and their annotated locations for NP_001447.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the predominant transcript and encodes a slightly shorter protein isoform (1).
    Source sequence(s)
    AB191260, BC067111, BP235228, X53416
    Consensus CDS
    CCDS44021.1
    UniProtKB/Swiss-Prot
    P21333
    UniProtKB/TrEMBL
    Q60FE5, Q6NXF2
    Related
    ENSP00000416926.1, ENST00000422373.5
    Conserved Domains (4) summary
    smart00033
    Location:172264
    CH; Calponin homology domain
    smart00557
    Location:14481542
    IG_FLMN; Filamin-type immunoglobulin domains
    cd00014
    Location:44148
    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:14451536
    Filamin; Filamin/ABP280 repeat

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_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    154348531..154374638 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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