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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 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
  • Alpha Filamin 2
  • Filamin-A 3
  • ABPX 3
  • CSBS 3
  • CVD1 3
  • FGS2 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 Periventricular Nodular Heterotopia 1. Among its related pathways are ERK Signaling and Focal Adhesion. Gene Ontology (GO) annotations related to this gene include 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 maintenance (By similarity).

Gene Wiki entry for FLNA Gene

Additional gene information for FLNA Gene

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

Genomics for FLNA Gene

GeneHancer (GH) Regulatory Elements for FLNA Gene

Promoters and enhancers for FLNA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ154364 Promoter/Enhancer 2.5 VISTA EPDnew Ensembl ENCODE dbSUPER 650.7 +4.4 4448 10.7 HDGF PKNOX1 CLOCK SMAD1 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 EMD FLNA PLXNA3 FAM50A SLC10A3 DKC1 CH17-340M24.3 ENSG00000285018 GC0XM154352 GC0XM154351
GH0XJ154396 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.4 -24.8 -24842 6.2 HNRNPUL1 PKNOX1 CLOCK SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 SNORA70 ENSG00000280195 GC0XP154401 GC0XP154402 RPL10 HCFC1 PLXNA3 DKC1 SNORA56 EMD
GH0XJ153922 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.1 +447.8 447823 7.7 HDGF HNRNPUL1 PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ARHGAP4 TMEM187 HCFC1 SNORA70 DKC1 SLC10A3 EMD HCFC1-AS1 FLNA PLXNA3
GH0XJ154376 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 0.7 -4.5 -4507 5.7 HDGF PKNOX1 ARNT ARID4B SIN3A YY1 POLR2B ZNF213 E2F8 ZNF207 EMD PLXNA3 DKC1 HCFC1 SNORA70 SLC10A3 SNORA56 TMEM187 RPL10 CH17-340M24.3
GH0XJ154346 Enhancer 1.1 Ensembl ENCODE dbSUPER 0.3 +25.2 25152 6.6 GTF2F1 BCOR KLF1 ESRRA NFIB EBF1 HIC1 POLR2B POLR2A RBM22 GC0XM154351 GC0XM154352 PLXNA3 FAM50A FAM3A LOC105373386 FLNA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FLNA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FLNA gene promoter:

Genomic Locations for FLNA Gene

Genomic Locations for FLNA Gene
chrX:154,348,524-154,374,638
(GRCh38/hg38)
Size:
26,115 bases
Orientation:
Minus strand
chrX:153,576,892-153,603,006
(GRCh37/hg19)

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 RFLNA and RFLNB (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). Interacts with CEACAM1 (via cytoplasmic domain); inhibits cell migration and cell scattering by interfering with the interaction between FLNA and RALA (PubMed:16291724). Interacts with FOXC1 (PubMed:15684392).
    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

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 isoforms=22621, Lys2417, isoforms=22217, isoforms=21964, isoforms=2916, Lys906, isoforms=2837, Lys367, isoforms=2220, Lys135, isoforms=243, and Lys42
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FLNA Gene

Domains & Families for FLNA Gene

Gene Families for FLNA Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

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.
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).
Family:
  • Belongs to the filamin family.
genes like me logo Genes that share domains with FLNA: view

Function for FLNA Gene

Molecular function for FLNA Gene

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 maintenance (By similarity).
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

Phenotypes From GWAS Catalog for FLNA Gene

Gene Ontology (GO) - Molecular Function for FLNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001664 G-protein coupled receptor binding IPI 26460884
GO:0003723 RNA binding HDA 22658674
GO:0003779 actin binding IEA --
GO:0004871 obsolete signal transducer activity HMP --
GO:0005515 protein binding IPI,IEA 4044584
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:
  • Flna Flna<tm1.2Caw>

Animal Model Products

Clone Products

  • Addgene plasmids for FLNA

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FLNA gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (4)
  • Cytosol (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FLNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005634 nucleus IDA 15684392
GO:0005730 nucleolus IMP 22307607
GO:0005737 cytoplasm IDA,IEA 15684392
GO:0005829 cytosol IDA,TAS --
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:0002576 platelet degranulation TAS --
GO:0007195 adenylate cyclase-inhibiting dopamine receptor signaling pathway IMP 10692483
GO:0016479 negative regulation of transcription by RNA polymerase I IDA 22307607
GO:0021943 formation of radial glial scaffolds IEA --
GO:0021987 cerebral cortex development IEA --
genes like me logo Genes that share ontologies with FLNA: view

Drugs & Compounds for FLNA Gene

(16) Drugs for FLNA Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dihydroartemisinin Approved, Investigational Pharma Target, ligand 100
(5r)-5-Amino-6-Hydroxyhexylcarbamic Acid Experimental Pharma Target 0
2-Phenylethanol Experimental Pharma Target 37
Diethyl 4-Methylbenzylphosphonate Experimental Pharma Target, Target 0
Ethyl Dihydrogen Phosphate Experimental Pharma Target 0

(2) 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

mRNA/cDNA for FLNA Gene

Unigene Clusters for FLNA Gene

Filamin A, alpha:
Representative Sequences:

Clone Products

  • Addgene plasmids for FLNA

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for FLNA Gene



Protein tissue co-expression partners for FLNA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FLNA Gene:

FLNA

SOURCE GeneReport for Unigene cluster for FLNA Gene:

Hs.195464

mRNA Expression by UniProt/SwissProt for FLNA Gene:

P21333-FLNA_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for FLNA Gene

  • Gall bladder(5)
  • Intestine(5)
  • Liver(5)
  • Heart(4.9)
  • Blood(4.8)
  • Pancreas(4.8)
  • Lung(4.7)
  • Skin(4.7)
  • Nervous system(4.5)
  • Spleen(4.4)
  • Eye(4.3)
  • Kidney(4)
  • Adrenal gland(3.9)
  • Bone(3.9)
  • Stomach(3.6)
  • Muscle(3.2)
  • Thyroid gland(3)
  • Lymph node(2.9)
  • Bone marrow(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FLNA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • sinus
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • aorta
  • bronchus
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • abdominal wall
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • anus
  • pelvis
  • penis
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with FLNA: view

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
dog
(Canis familiaris)
Mammalia FLNA 34 33
  • 90.97 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FLNA 34 33
  • 90.29 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FLNA 34
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FLNA 34
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Flna 33
  • 87.37 (n)
mouse
(Mus musculus)
Mammalia Flna 16 34 33
  • 87.33 (n)
chicken
(Gallus gallus)
Aves FLNA 33
  • 74.01 (n)
lizard
(Anolis carolinensis)
Reptilia FLNA 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.3723 33
zebrafish
(Danio rerio)
Actinopterygii flna 34
  • 80 (a)
OneToOne
wufb98b06 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004335 33
  • 54.23 (n)
fruit fly
(Drosophila melanogaster)
Insecta cher 34 35 33
  • 52.19 (n)
ManyToMany
CG5984 34
  • 40 (a)
ManyToMany
jbug 34 35
  • 21 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea fln-1 34 33
  • 44.82 (n)
ManyToMany
C23F12.2 35
  • 41 (a)
Y66H1B.2 35
  • 36 (a)
Y66H1B.3 35
  • 32 (a)
fln-2 34
  • 17 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 54 (a)
ManyToMany
Species where no ortholog for FLNA was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FLNA: view image

Paralogs for FLNA Gene

Paralogs for FLNA Gene

(12) SIMAP similar genes for FLNA Gene using alignment to 12 proteins:

  • FLNA_HUMAN
  • A6NDY9_HUMAN
  • E9PHF0_HUMAN
  • F8WE98_HUMAN
  • H0Y5C6_HUMAN
  • H0Y5F3_HUMAN
  • H7C2E7_HUMAN
  • Q2VP91_HUMAN
  • Q5HY54_HUMAN
  • Q60FE5_HUMAN
  • Q60FE6_HUMAN
  • Q6NXF2_HUMAN

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 Variation AA Info Type
rs1004981975 likely-benign, Frontometaphyseal dysplasia, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II, Periventricular nodular heterotopia 1 154,352,647(-) G/A/T coding_sequence_variant, synonymous_variant
rs1037180469 uncertain-significance, Frontometaphyseal dysplasia, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II, Periventricular nodular heterotopia 1 154,361,975(-) C/T intron_variant
rs1057515582 pathogenic, Periventricular nodular heterotopia 1 154,362,726(-) /TT coding_sequence_variant, frameshift
rs1057515583 pathogenic, Periventricular nodular heterotopia 1 154,362,746(-) TTT/TTTTT coding_sequence_variant, frameshift
rs1057515584 pathogenic, FG syndrome 2, Intestinal pseudoobstruction neuronal chronic idiopathic X-linked 154,352,903(-) GACAG/GACAGACAG coding_sequence_variant, frameshift

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

Variant ID Type Subtype PubMed ID
dgv65n47 OTHER inversion 21111241
esv33199 CNV gain+loss 17666407
esv33784 CNV gain+loss 17666407
nsv219 OTHER inversion 15895083
nsv508002 OTHER sequence alteration 20534489
nsv519042 CNV gain 19592680
nsv7468 OTHER inversion 18451855
nsv9999 CNV gain 18304495

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)

Additional Variant Information for FLNA Gene

Human Gene Mutation Database (HGMD)
FLNA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FLNA

SNP Genotyping and Copy Number Assay Products

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

Disorders for FLNA Gene

MalaCards: The human disease database

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

UniProtKB/Swiss-Prot

FLNA_HUMAN
  • 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: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.
  • 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, ECO:0000269 PubMed:27193221}. 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, ECO:0000269 PubMed:27193221}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Frontometaphyseal dysplasia 1 (FMD1) [MIM:305620]: An X-linked disease characterized by generalized skeletal dysplasia, deafness, and urogenital defects. {ECO:0000269 PubMed:12612583, ECO:0000269 PubMed:16596676, ECO:0000269 PubMed:27193221}. 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, ECO:0000269 PubMed:27193221}. 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.
  • 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.
  • 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.
  • 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.
  • 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}.
  • 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.

Additional Disease Information for FLNA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 SP … OPD-spectrum Disorders Clinical Collaborative Group (Nature genetics 2003) 2 3 4 22 58
  2. Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings. (PMID: 17431908) Mariño-Enríquez A … Rodríguez JI (American journal of medical genetics. Part A 2007) 3 4 22 58
  3. Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. (PMID: 17190868) Kyndt F … Schott JJ (Circulation 2007) 3 4 22 58
  4. Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. (PMID: 16596676) Zenker M … Horn D (American journal of medical genetics. Part A 2006) 3 4 22 58
  5. Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. (PMID: 15994863) Gómez-Garre P … Serratosa JM (Journal of medical genetics 2006) 3 4 22 58

Products for FLNA Gene

  • Addgene plasmids for FLNA

Sources for FLNA Gene