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Aliases for FLNA Gene

Aliases for FLNA Gene

  • Filamin A 2 3 5
  • Endothelial Actin-Binding Protein 3 4
  • Actin Binding Protein 280 2 3
  • Non-Muscle Filamin 3 4
  • Filamin A, Alpha 2 3
  • Alpha Filamin 2 3
  • Alpha-Filamin 3 4
  • Filamin-1 3 4
  • ABP-280 3 4
  • FLN-A 3 4
  • FLN1 3 4
  • FLN 3 4
  • Filamin A, Alpha (Actin Binding Protein 280) 2
  • Actin-Binding Protein 280 4
  • EC 2.1.1.43 63
  • EC 6.3.4.4 63
  • CSBS 3
  • ABPX 3
  • CVD1 3
  • NHBP 3
  • XLVD 3
  • XMVD 3
  • OPD1 3
  • OPD2 3
  • FMD 3
  • MNS 3
  • OPD 3

External Ids for FLNA Gene

Previous HGNC Symbols for FLNA Gene

  • FLN1
  • FLN
  • OPD2
  • OPD1

Previous GeneCards Identifiers for FLNA Gene

  • GC0XM147640
  • GC0XM149957
  • GC0XM151162
  • GC0XM152044
  • GC0XM153097
  • GC0XM153230
  • GC0XM153576
  • GC0XM142154

Summaries for FLNA Gene

Entrez Gene Summary for FLNA Gene

  • 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]

GeneCards Summary for FLNA Gene

FLNA (Filamin A) is a Protein Coding gene. Diseases associated with FLNA include Melnick-Needles Syndrome and Frontometaphyseal Dysplasia. Among its related pathways are Cell junction organization and ERK Signaling. GO annotations related to this gene include poly(A) RNA binding and transcription factor binding. An important paralog of this gene is FLNC.

UniProtKB/Swiss-Prot for FLNA Gene

  • Promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton and serves as a scaffold for a wide range of cytoplasmic signaling proteins. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. Tethers cell surface-localized furin, modulates its rate of internalization and directs its intracellular trafficking (By similarity). Involved in ciliogenesis. Plays a role in cell-cell contacts and adherens junctions during the development of blood vessels, heart and brain organs. Plays a role in platelets morphology through interaction with SYK that regulates ITAM- and ITAM-like-containing receptor signaling, resulting in by platelet cytoskeleton organization maintainance (By similarity).

Gene Wiki entry for FLNA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FLNA Gene

Genomics for FLNA Gene

Regulatory Elements for FLNA Gene

Enhancers for FLNA Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FLNA on UCSC Golden Path with GeneCards custom track

Genomic Location for FLNA Gene

Chromosome:
X
Start:
154,348,524 bp from pter
End:
154,374,638 bp from pter
Size:
26,115 bases
Orientation:
Minus strand

Genomic View for FLNA Gene

Genes around FLNA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FLNA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FLNA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FLNA Gene

Proteins for FLNA Gene

  • Protein details for FLNA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P21333-FLNA_HUMAN
    Recommended name:
    Filamin-A
    Protein Accession:
    P21333
    Secondary Accessions:
    • E9KL45
    • Q5HY53
    • Q5HY55
    • Q8NF52

    Protein attributes for FLNA Gene

    Size:
    2647 amino acids
    Molecular mass:
    280739 Da
    Quaternary structure:
    • Homodimer. Interacts with PDLIM2 (By similarity). Interacts with FAM101A and FAM101B (By similarity). Interacts with FCGR1A, FLNB, FURIN, HSPB7, INPPL1, KCND2, MYOT, MYOZ1, ARHGAP24, PSEN1, PSEN2 and ECSCR. Interacts also with various other binding partners in addition to filamentous actin. Interacts (via N-terminus) with MIS18BP1 (via N-terminus). Interacts (via N-terminus) with TAF1B. Interacts with TMEM67 (via C-terminus) and MKS1. Interacts (via actin-binding domain) with MICALL2 (via CH domain). Interacts (via filamin repeat 5) with SYK; docks SYK to the plasma membrane (PubMed:20713593). Interacts (via filamin repeats 19 and 21) with DRD3; increased PKA-mediated phosphorylation at Ser-2152. Interacts (via filamin repeat 21) with MAS1, AGTR1 and ADRA1D; increases PKA-mediated phosphorylation of FLNA at Ser-2152 (PubMed:26460884). Interacts (via filamin repeats 4, 9, 12, 17, 19, 21, and 23) with GP1BA (high affinity), ITGB7, ITGB2 and FBLIM1 (PubMed:19828450, PubMed:21524097, PubMed:25666618).
    SequenceCaution:
    • Sequence=BAC03408.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FLNA Gene

    Alternative splice isoforms for FLNA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FLNA Gene

Proteomics data for FLNA Gene at MOPED

Selected DME Specific Peptides for FLNA Gene

Post-translational modifications for FLNA Gene

  • Phosphorylation at Ser-2152 is negatively regulated by the autoinhibited conformation of filamin repeats 19-21. Ligand binding induces a conformational switch triggering phosphorylation at Ser-2152 by PKA.
  • Phosphorylation extent changes in response to cell activation.
  • Polyubiquitination in the CH1 domain by a SCF-like complex containing ASB2 leads to proteasomal degradation. Prior dissociation from actin may be required to expose the target lysines (PubMed:24052262). Ubiquitinated in endothelial cells by RNF213 downstream of the non-canonical Wnt signaling pathway, leading to its degradation by the proteasome (PubMed:26766444).
  • Ubiquitination at Lys 42, Lys 43, Lys 135, Lys 220, Lys 367, Lys 837, Lys 906, Lys 916, Lys 1964, Lys 2217, Lys 2417, and Lys 2621
  • Modification sites at PhosphoSitePlus

Domains & Families for FLNA Gene

Graphical View of Domain Structure for InterPro Entry

P21333

UniProtKB/Swiss-Prot:

FLNA_HUMAN :
  • Comprised of a NH2-terminal actin-binding domain, 24 immunoglobulin-like internally homologous repeats and two hinge regions. Repeat 24 and the second hinge domain are important for dimer formation. Filamin repeat 20 interacts with filamin repeat 21 masking the ligand binding site on filamin repeat 21, resulting in an autoinhibited conformation (PubMed:17690686). The autoinhibition can be relieved by ligands like ITGB7 or FBLIM1 (PubMed:21524097). Filamin repeats 19 and 21 can simultaneously engage ligands (PubMed:21524097).
  • Belongs to the filamin family.
  • Contains 24 filamin repeats.
Domain:
  • Comprised of a NH2-terminal actin-binding domain, 24 immunoglobulin-like internally homologous repeats and two hinge regions. Repeat 24 and the second hinge domain are important for dimer formation. Filamin repeat 20 interacts with filamin repeat 21 masking the ligand binding site on filamin repeat 21, resulting in an autoinhibited conformation (PubMed:17690686). The autoinhibition can be relieved by ligands like ITGB7 or FBLIM1 (PubMed:21524097). Filamin repeats 19 and 21 can simultaneously engage ligands (PubMed:21524097).
  • Contains 1 actin-binding domain.
  • Contains 2 CH (calponin-homology) domains.
Family:
  • Belongs to the filamin family.
Similarity:
  • Contains 24 filamin repeats.
genes like me logo Genes that share domains with FLNA: view

No data available for Gene Families for FLNA Gene

Function for FLNA Gene

Molecular function for FLNA Gene

GENATLAS Biochemistry:
filamin A,dimeric actin cross-linking phosphoprotein of the peripheral cytoplasm,highly expressed in the developing cortex and required for locomotion of many cell types
UniProtKB/Swiss-Prot Function:
Promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton and serves as a scaffold for a wide range of cytoplasmic signaling proteins. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. Tethers cell surface-localized furin, modulates its rate of internalization and directs its intracellular trafficking (By similarity). Involved in ciliogenesis. Plays a role in cell-cell contacts and adherens junctions during the development of blood vessels, heart and brain organs. Plays a role in platelets morphology through interaction with SYK that regulates ITAM- and ITAM-like-containing receptor signaling, resulting in by platelet cytoskeleton organization maintainance (By similarity).

Enzyme Numbers (IUBMB) for FLNA Gene

Gene Ontology (GO) - Molecular Function for FLNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0017160 Ral GTPase binding IDA 10051605
GO:0042803 protein homodimerization activity IDA 2391361
GO:0051015 actin filament binding IEA,IDA 2391361
genes like me logo Genes that share ontologies with FLNA: view
genes like me logo Genes that share phenotypes with FLNA: view

Human Phenotype Ontology for FLNA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FLNA Gene

MGI Knock Outs for FLNA:

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for FLNA Gene

Localization for FLNA Gene

Subcellular locations from UniProtKB/Swiss-Prot for FLNA Gene

Cytoplasm, cell cortex. Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FLNA Gene COMPARTMENTS Subcellular localization image for FLNA gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
nucleus 5
plasma membrane 5
golgi apparatus 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for FLNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 15684392
GO:0005911 cell-cell junction IDA 16291724
GO:0005925 focal adhesion IDA 21423176
GO:0015629 actin cytoskeleton IDA --
genes like me logo Genes that share ontologies with FLNA: view

Pathways & Interactions for FLNA Gene

genes like me logo Genes that share pathways with FLNA: view

SIGNOR curated interactions for FLNA Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for FLNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030168 platelet activation TAS --
GO:0031532 actin cytoskeleton reorganization IDA 10051605
GO:0034329 cell junction assembly TAS --
GO:0042993 positive regulation of transcription factor import into nucleus IMP 15684392
GO:0043113 receptor clustering IDA 10692483
genes like me logo Genes that share ontologies with FLNA: view

Drugs & Compounds for FLNA Gene

(7) Drugs for FLNA Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for FLNA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FLNA: view

Transcripts for FLNA Gene

Unigene Clusters for FLNA Gene

Filamin A, alpha:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FLNA Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a ·
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 21b ^ 22a · 22b ^ 23 ^ 24a · 24b ^ 25a · 25b ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34a · 34b ^ 35 ^ 36 ^ 37 ^ 38a · 38b ^ 39 ^ 40a ·
SP1:
SP2: -
SP3: -
SP4: - - - - -
SP5: - -
SP6: -
SP7:
SP8:
SP9: - - - - - - - - - - - - - - - - - - - - - - - -
SP10:
SP11:
SP12:
SP13:

ExUns: 40b ^ 41 ^ 42a · 42b ^ 43a · 43b ^ 44 ^ 45 ^ 46a · 46b ^ 47 ^ 48 ^ 49a · 49b ^ 50
SP1: - - -
SP2: - - -
SP3: - -
SP4: - -
SP5:
SP6: - -
SP7:
SP8:
SP9: - - - - - - - - - - - - - -
SP10: -
SP11:
SP12:
SP13:

Relevant External Links for FLNA Gene

GeneLoc Exon Structure for
FLNA
ECgene alternative splicing isoforms for
FLNA

Expression for FLNA Gene

mRNA expression in normal human tissues for FLNA Gene

mRNA differential expression in normal tissues according to GTEx for FLNA Gene

This gene is overexpressed in Artery - Tibial (x5.6), Esophagus - Gastroesophageal Junction (x4.9), Colon - Sigmoid (x4.7), Esophagus - Muscularis (x4.7), and Artery - Aorta (x4.1).

Protein differential expression in normal tissues from HIPED for FLNA Gene

This gene is overexpressed in Colon muscle (8.5), Cardia (7.7), Bone marrow stromal cell (7.1), and Urinary Bladder (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for FLNA Gene



SOURCE GeneReport for Unigene cluster for FLNA Gene Hs.195464

mRNA Expression by UniProt/SwissProt for FLNA Gene

P21333-FLNA_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with FLNA: view

Protein tissue co-expression partners for FLNA Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for FLNA Gene

Orthologs for FLNA Gene

This gene was present in the common ancestor of animals.

Orthologs for FLNA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FLNA 35
  • 90.29 (n)
  • 97.47 (a)
FLNA 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FLNA 35
  • 90.97 (n)
  • 97.96 (a)
FLNA 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Flna 35
  • 87.33 (n)
  • 97.31 (a)
Flna 16
Flna 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Flna 35
  • 87.37 (n)
  • 97.35 (a)
oppossum
(Monodelphis domestica)
Mammalia FLNA 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FLNA 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves FLNA 35
  • 74.01 (n)
  • 76.36 (a)
lizard
(Anolis carolinensis)
Reptilia FLNA 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.3723 35
zebrafish
(Danio rerio)
Actinopterygii wufb98b06 35
flna 36
  • 80 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta cher 37
  • 53 (a)
jbug 37
  • 25 (a)
cher 35
  • 52.19 (n)
  • 42.91 (a)
CG5984 36
  • 40 (a)
ManyToMany
cher 36
  • 50 (a)
ManyToMany
jbug 36
  • 21 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004335 35
  • 54.23 (n)
  • 46.65 (a)
worm
(Caenorhabditis elegans)
Secernentea C23F12.2 37
  • 41 (a)
Y66H1B.2 37
  • 36 (a)
Y66H1B.3 37
  • 32 (a)
fln-1 35
  • 44.82 (n)
  • 36.58 (a)
fln-1 36
  • 35 (a)
ManyToMany
fln-2 36
  • 17 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 54 (a)
ManyToMany
Species with no ortholog for FLNA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FLNA Gene

ENSEMBL:
Gene Tree for FLNA (if available)
TreeFam:
Gene Tree for FLNA (if available)

Paralogs for FLNA Gene

Paralogs for FLNA Gene

Pseudogenes.org Pseudogenes for FLNA Gene

genes like me logo Genes that share paralogs with FLNA: view

Variants for FLNA Gene

Sequence variations from dbSNP and Humsavar for FLNA Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1064816 - 154,366,760(-) GTACG(C/T)GGAGG reference, missense
rs1064817 - 154,366,428(-) GCCCC(C/T)TCGAG reference, missense
VAR_012833 -
VAR_012834 Periventricular nodular heterotopia 1 (PVNH1)
rs57108893 - 154,354,639(+) CTGGG(C/T)GTAGG intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for FLNA Gene

Variant ID Type Subtype PubMed ID
esv33199 CNV Gain+Loss 17666407
esv33784 CNV Gain+Loss 17666407
nsv519042 CNV Gain 19592680
nsv7468 OTHER Inversion 18451855
nsv219 OTHER Inversion 15895083
nsv9999 CNV Gain 18304495
dgv65n47 OTHER Inversion 21111241
nsv508002 CNV Insertion 20534489

Variation tolerance for FLNA Gene

Residual Variation Intolerance Score: 0.444% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.61; 72.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FLNA Gene

Human Gene Mutation Database (HGMD)
FLNA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FLNA Gene

Disorders for FLNA Gene

MalaCards: The human disease database

(40) MalaCards diseases for FLNA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
melnick-needles syndrome
  • melnick-needles osteodysplasty
frontometaphyseal dysplasia
  • muscular dystrophy, facioscapulohumeral
intestinal pseudoobstruction, neuronal
  • congenital short bowel syndrome
otopalatodigital syndrome, type i
  • oto-palato-digital syndrome type 1
otopalatodigital syndrome, type ii
  • oto-palato-digital syndrome type 1
- elite association - COSMIC cancer census association via MalaCards
Search FLNA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FLNA_HUMAN
  • Cardiac valvular dysplasia X-linked (CVDX) [MIM:314400]: A rare X-linked heart disease characterized by mitral and/or aortic valve regurgitation. The histologic features include fragmentation of collagenous bundles within the valve fibrosa and accumulation of proteoglycans, which produces excessive valve tissue leading to billowing of the valve leaflets. {ECO:0000269 PubMed:17190868}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Congenital short bowel syndrome, X-linked (CSBSX) [MIM:300048]: A disease characterized by a shortened small intestine, and malabsorption. The mean length of the small intestine in affected individuals is approximately 50 cm, compared with a normal length at birth of 190-280 cm. It is associated with significant mortality and morbidity. Infants usually present with failure to thrive, recurrent vomiting, and diarrhea. {ECO:0000269 PubMed:23037936}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • FG syndrome 2 (FGS2) [MIM:300321]: FG syndrome (FGS) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. {ECO:0000269 PubMed:17632775}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Frontometaphyseal dysplasia (FMD) [MIM:305620]: Congenital bone disease characterized by supraorbital hyperostosis, deafness and digital anomalies. {ECO:0000269 PubMed:12612583, ECO:0000269 PubMed:16596676}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked (IPOX) [MIM:300048]: A disease characterized by a severe abnormality of gastrointestinal motility due to primary qualitative defects of enteric ganglia and nerve fibers. Affected individuals manifest recurrent signs of intestinal obstruction in the absence of any mechanical lesion. {ECO:0000269 PubMed:17357080}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Melnick-Needles syndrome (MNS) [MIM:309350]: Severe congenital bone disorder characterized by typical facies (exophthalmos, full cheeks, micrognathia and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of bones of legs, irregular constrictions in the ribs, and sclerosis of base of skull. {ECO:0000269 PubMed:12612583}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in FLNA may be a cause of macrothrombocytopenia, a disorder characterized by subnormal levels of blood platelets. Blood platelets are abnormally enlarged (PubMed:21960593). {ECO:0000269 PubMed:21960593}.
  • Otopalatodigital syndrome 1 (OPD1) [MIM:311300]: X-linked dominant multiple congenital anomalies disease mainly characterized by a generalized skeletal dysplasia, mild mental retardation, hearing loss, cleft palate, and typical facial anomalies. OPD1 belongs to a group of X-linked skeletal dysplasias known as oto-palato-digital syndrome spectrum disorders that also include OPD2, Melnick-Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD). Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. FLNA is a widely expressed protein that regulates re-organization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes and second messengers. Males with OPD1 have cleft palate, malformations of the ossicles causing deafness and milder bone and limb defects than those associated with OPD2. Obligate female carriers of mutations causing both OPD1 and OPD2 have variable (often milder) expression of a similar phenotypic spectrum. {ECO:0000269 PubMed:12612583, ECO:0000269 PubMed:15940695}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Otopalatodigital syndrome 2 (OPD2) [MIM:304120]: Congenital bone disorder that is characterized by abnormally modeled, bowed bones, small or absent first digits and, more variably, cleft palate, posterior fossa brain anomalies, omphalocele and cardiac defects. {ECO:0000269 PubMed:12612583, ECO:0000269 PubMed:17431908}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Periventricular nodular heterotopia 1 (PVNH1) [MIM:300049]: A developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH1 is an X-linked dominant form. Heterozygous females have normal intelligence but suffer from seizures and various manifestations outside the central nervous system, especially related to the vascular system. Hemizygous affected males die in the prenatal or perinatal period. {ECO:0000269 PubMed:11532987, ECO:0000269 PubMed:11914408, ECO:0000269 PubMed:12410386, ECO:0000269 PubMed:15249610, ECO:0000269 PubMed:15668422, ECO:0000269 PubMed:15994863, ECO:0000269 PubMed:16299064}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Terminal osseous dysplasia (TOD) [MIM:300244]: A rare X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin and recurrent digital fibroma during infancy. A significant phenotypic variability is observed in affected females. {ECO:0000269 PubMed:20598277}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FLNA

Genetic Association Database (GAD)
FLNA
Human Genome Epidemiology (HuGE) Navigator
FLNA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FLNA
genes like me logo Genes that share disorders with FLNA: view

No data available for Genatlas for FLNA Gene

Publications for FLNA Gene

  1. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. (PMID: 12612583) Robertson S.P. … Wilkie A.O.M. (Nat. Genet. 2003) 2 3 4 23 67
  2. Actin-binding protein (ABP-280) filamin gene (FLN) maps telomeric to the color vision locus (R/GCP) and centromeric to G6PD in Xq28. (PMID: 8406501) Gorlin J.B. … Kwiatkowski D.J. (Genomics 1993) 2 3 23
  3. Filamin A is required for vimentin-mediated cell adhesion and spreading. (PMID: 19776392) Kim H. … McCulloch C.A. (Am. J. Physiol., Cell Physiol. 2010) 3 23
  4. Filamin associates with stress signalling kinases MKK7 and MKK4 and regulates JNK activation. (PMID: 20156194) Nakagawa K. … Nishina H. (Biochem. J. 2010) 3 23
  5. Regulation of cell adhesion to collagen via beta1 integrins is dependent on interactions of filamin A with vimentin and protein kinase C epsilon. (PMID: 20171211) Kim H. … McCulloch C.A. (Exp. Cell Res. 2010) 3 23

Products for FLNA Gene

Sources for FLNA Gene

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