Display Settings:

Format

Send to:

Choose Destination

FLNA filamin A, alpha [ Homo sapiens (human) ]

Gene ID: 2316, updated on 19-Dec-2014
Official Symbol
FLNAprovided by HGNC
Official Full Name
filamin A, alphaprovided by HGNC
Primary source
HGNC:HGNC:3754
Locus tag
XX-FW83128A1.1
See related
Ensembl:ENSG00000196924; HPRD:02060; MIM:300017; Vega:OTTHUMG00000022712
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; 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]
See FLNA in Epigenomics, MapViewer
Location:
Xq28
Exon count:
48
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (154348532..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 testis expressed 28 Neighboring gene transketolase-like 1 Neighboring gene emerin Neighboring gene small nucleolar RNA, H/ACA box 70 Neighboring gene ribosomal protein L10

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
Heterotopia, periventricular, Ehlers-Danlos variant
MedGen: C1845235 OMIM: 300537 GeneReviews: Not available
Compare labs
Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
MedGen: C1848221 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
Terminal osseous dysplasia
MedGen: C1846129 OMIM: 300244 GeneReviews: Not available
Compare labs
X-linked periventricular heterotopia 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

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 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 Expression of HIV-1 Tat upregulates the abundance of filamin A, alpha (FLNA) in the nucleoli of Jurkat T-cells 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

  • 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...
  • 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...
  • 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...
  • 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
  • TNF-alpha/NF-kB Signaling Pathway, organism-specific biosystem (from WikiPathways)
    TNF-alpha/NF-kB Signaling Pathway, organism-specific biosystem"The Tumor Necrosis Factor alpha is a proinflammatory cytokine belonging to the TNF superfamily. It signals through 2 separate receptors - TNFRSF1A and TNFRSF1B, both members of the TNF receptor supe...
Products Interactant Other Gene Complex Source Pubs Description

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 
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 
glycoprotein binding IDA
Inferred from Direct Assay
more info
PubMed 
mu-type opioid receptor binding IEA
Inferred from Electronic Annotation
more info
 
poly(A) RNA 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 
protein kinase C binding IEA
Inferred from Electronic Annotation
more info
 
signal transducer activity IMP
Inferred from Mutant Phenotype
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 
blood coagulation TAS
Traceable Author Statement
more info
 
cell junction assembly TAS
Traceable Author Statement
more info
 
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytoplasmic sequestering of protein IMP
Inferred from Mutant Phenotype
more info
PubMed 
early endosome to late endosome transport IEA
Inferred from Electronic Annotation
more info
 
epithelial to mesenchymal transition IEA
Inferred from Electronic Annotation
more info
 
establishment of protein localization IDA
Inferred from Direct Assay
more info
PubMed 
mRNA transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of sequence-specific DNA binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
platelet activation TAS
Traceable Author Statement
more info
 
platelet aggregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
platelet degranulation TAS
Traceable Author Statement
more info
 
positive regulation of I-kappaB kinase/NF-kappaB signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription factor import into nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to cell surface 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 
spindle assembly involved in mitosis IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Myb complex IDA
Inferred from Direct Assay
more info
PubMed 
actin cytoskeleton IC
Inferred by Curator
more info
PubMed 
actin cytoskeleton IDA
Inferred from Direct Assay
more info
 
actin filament IEA
Inferred from Electronic Annotation
more info
 
apical dendrite IEA
Inferred from Electronic Annotation
more info
 
cortical cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
dendritic shaft IEA
Inferred from Electronic Annotation
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
focal adhesion IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
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
 
trans-Golgi network IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
filamin-A
Names
filamin-A
filamin-1
alpha-filamin
non-muscle filamin
actin binding protein 280
endothelial actin-binding protein

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_011506.1 

    Range
    5001..31107
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to 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, BC067111, BP235228, X53416
    Consensus CDS
    CCDS48194.1
    UniProtKB/Swiss-Prot
    P21333
    UniProtKB/TrEMBL
    Q60FE5
    UniProtKB/TrEMBL
    Q6NXF2
    Related
    ENSP00000358866, OTTHUMP00000024321, ENST00000369850, OTTHUMT00000058942
    Conserved Domains (2) summary
    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 ...
  2. NM_001456.3NP_001447.2  filamin-A isoform 1

    See proteins identical to 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
    UniProtKB/TrEMBL
    Q6NXF2
    Related
    ENSP00000416926, ENST00000422373
    Conserved Domains (2) summary
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    154348532..154374638
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    153488516..153514622
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    142154186..142180218
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)