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FLNA filamin A [ Homo sapiens (human) ]

Gene ID: 2316, updated on 4-Dec-2022

Summary

Official Symbol
FLNAprovided by HGNC
Official Full Name
filamin Aprovided by HGNC
Primary source
HGNC:HGNC:3754
See related
Ensembl:ENSG00000196924 MIM:300017; AllianceGenome:HGNC:3754
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
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Genomic context

See FLNA in Genome Data Viewer
Location:
Xq28
Exon count:
48
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (154348531..154374634, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152585064..152611166, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153576899..153603002, 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 uncharacterized LOC124905228 Neighboring gene emerin

Genomic regions, transcripts, and products

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: FLNA Deficiency
Compare labs
FG syndrome 2
MedGen: C1845902 OMIM: 300321 GeneReviews: Not available
Compare labs
Frontometaphyseal dysplasia 1 Compare labs
Heterotopia, periventricular, X-linked dominant
MedGen: C1848213 OMIM: 300049 GeneReviews: FLNA Deficiency
Compare labs
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
MedGen: C2746068 OMIM: 300048 GeneReviews: FLNA Deficiency
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-pigmentary defects syndrome
MedGen: C1846129 OMIM: 300244 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-12-02)

ClinGen Genome Curation PagePubMed
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-12-02)

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 PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ43642, DKFZp434P031

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in actin crosslink formation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in actin cytoskeleton reorganization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in adenylate cyclase-inhibiting dopamine receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in angiogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in blood coagulation, intrinsic pathway IC
Inferred by Curator
more info
PubMed 
involved_in blood vessel remodeling IEA
Inferred from Electronic Annotation
more info
 
involved_in cell-cell junction organization IEA
Inferred from Electronic Annotation
more info
 
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cytoplasmic sequestering of protein IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in early endosome to late endosome transport IEA
Inferred from Electronic Annotation
more info
 
involved_in epithelial to mesenchymal transition IEA
Inferred from Electronic Annotation
more info
 
involved_in establishment of protein localization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in heart morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in megakaryocyte development IC
Inferred by Curator
more info
PubMed 
acts_upstream_of_or_within mitotic spindle assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase I IDA
Inferred from Direct Assay
more info
PubMed 
involved_in platelet aggregation HMP PubMed 
involved_in positive regulation of I-kappaB kinase/NF-kappaB signaling HMP PubMed 
involved_in positive regulation of axon regeneration IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of integrin-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of platelet activation IC
Inferred by Curator
more info
PubMed 
involved_in positive regulation of potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of protein import into nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of substrate adhesion-dependent cell spreading IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization to cell surface IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein localization to plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein stabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in receptor clustering IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of actin filament bundle assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of membrane repolarization during atrial cardiac muscle cell action potential IC
Inferred by Curator
more info
 
involved_in regulation of membrane repolarization during cardiac muscle cell action potential ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in release of sequestered calcium ion into cytosol IC
Inferred by Curator
more info
PubMed 
involved_in semaphorin-plexin signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in synapse organization IEA
Inferred from Electronic Annotation
more info
 
involved_in tubulin deacetylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in wound healing, spreading of cells IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
part_of Myb complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in Z disc ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in actin cytoskeleton IC
Inferred by Curator
more info
PubMed 
located_in actin cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
located_in actin filament bundle IEA
Inferred from Electronic Annotation
more info
 
located_in axonal growth cone IEA
Inferred from Electronic Annotation
more info
 
located_in brush border IEA
Inferred from Electronic Annotation
more info
 
located_in cell cortex IEA
Inferred from Electronic Annotation
more info
 
located_in cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
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 extracellular region TAS
Traceable Author Statement
more info
 
located_in focal adhesion HDA PubMed 
part_of glycoprotein Ib-IX-V complex IC
Inferred by Curator
more info
PubMed 
located_in membrane HDA PubMed 
located_in nucleolus IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in perikaryon IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in trans-Golgi network 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)

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_011506.2 RefSeqGene

    Range
    5005..31108
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1340

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, Q8NF52
    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_001456.4NP_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, AC245140, BC067111, BP235228, X53416
    Consensus CDS
    CCDS44021.1
    UniProtKB/Swiss-Prot
    P21333
    UniProtKB/TrEMBL
    Q60FE5, Q6NXF2
    Related
    ENSP00000353467.4, ENST00000360319.9
    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 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    154348531..154374634 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    152585064..152611166 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)