Human Gene FLNA (ENST00000422373.6) from GENCODE V43
  Description: filamin A (from HGNC FLNA)
RefSeq Summary (NM_001110556): 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].
Gencode Transcript: ENST00000422373.6
Gencode Gene: ENSG00000196924.19
Transcript (Including UTRs)
   Position: hg38 chrX:154,348,529-154,371,283 Size: 22,755 Total Exon Count: 29 Strand: -
Coding Region
   Position: hg38 chrX:154,348,849-154,371,245 Size: 22,397 Coding Exon Count: 29 

Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsPathwaysOther Names
Data last updated at UCSC: 2023-02-17 13:02:02

-  Sequence and Links to Tools and Databases
Genomic Sequence (chrX:154,348,529-154,371,283)mRNA (may differ from genome)Protein (1574 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold

-  Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

-  MalaCards Disease Associations
  MalaCards Gene Search: FLNA
Diseases sorted by gene-association score: melnick-needles syndrome* (1713), heterotopia, periventricular* (1681), otopalatodigital syndrome, type i* (1650), otopalatodigital syndrome, type ii* (1650), cardiac valvular dysplasia, x-linked* (1580), terminal osseous dysplasia* (1378), intestinal pseudoobstruction, neuronal* (1369), fg syndrome 2* (1329), frontometaphyseal dysplasia 1* (1230), frontometaphyseal dysplasia* (912), moved to 300049* (750), otopalatodigital spectrum disorders* (619), flna-related periventricular nodular heterotopia* (519), cleft palate, isolated* (405), congenital short bowel syndrome* (267), ehlers-danlos syndrome, cardiac valvular form* (247), flna-related disorders* (100), flna-related x-linked cardiac valvular dysplasia* (100), otopalatodigital syndrome (41), constipation (18), keloid formation (17), foster-kennedy syndrome (16), pulmonary plasma cell granuloma (16), omphalocele (16), discharging ear (15), skeletal dysplasias (14), x-linked disease (13), short bowel syndrome (12), senile entropion (11), exophthalmos (10), mite infestation (9), vaginal discharge (9), primary optic atrophy (9), intestinal pseudo-obstruction (9), urethral calculus (9), skeletal tuberculosis (9), paraphimosis (9), intestinal obstruction (8), leech infestation (8), postmenopausal atrophic vaginitis (8), myopathy, myofibrillar, 5 (8), neuroretinitis (8), aicardi syndrome (8), parasitic ectoparasitic infectious disease (8), mongolian spot (7), skeletal dysplasia (7), taylor's syndrome (7), lichen nitidus (7), miliaria (7), chronic purulent otitis media (7), lower urinary tract calculus (6), schizotypal personality disorder (6), otomycosis (6), punctate palmoplantar keratoderma (6), hydrocephalus (6), cervix disease (6), atelosteogenesis (6), boomerang dysplasia (6), regular astigmatism (6), mental retardation, x-linked syndromic, lubs type (5), narcissistic personality disorder (5), glomangioma (5), breast abscess (5), spinal cord astrocytoma (5), cardiovascular organ benign neoplasm (5), benign perivascular tumor (5), vaginal disease (5), chronic dacryocystitis (5), shoulder impingement syndrome (5), hyperostosis (5), chronic inflammation of lacrimal passage (5), cervicitis (5), avoidant personality disorder (5), osteochondrodysplasia (5), subdural empyema (5), neuronal migration disorders (5), diphyllobothriasis (4), congenital nervous system abnormality (4), leukocoria (4), west syndrome (4), tricuspid valve stenosis (4), sed congenita (4), borjeson-forssman-lehmann syndrome (3), hajdu-cheney syndrome (3), physical disorder (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1712.88 RPKM in Artery - Tibial
Total median expression: 16613.47 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -9.2038-0.242 Picture PostScript Text
3' UTR -116.60320-0.364 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Descriptions from all associated GenBank mRNAs
  LF214070 - JP 2014500723-A/21573: Polycomb-Associated Non-Coding RNAs.
MA449647 - JP 2018138019-A/21573: Polycomb-Associated Non-Coding RNAs.
LF211538 - JP 2014500723-A/19041: Polycomb-Associated Non-Coding RNAs.
MA447115 - JP 2018138019-A/19041: Polycomb-Associated Non-Coding RNAs.
BC041179 - Homo sapiens, Similar to filamin C, gamma (actin binding protein 280), clone IMAGE:4152096, mRNA, partial cds.
AL050396 - Homo sapiens mRNA; cDNA DKFZp586K1720 (from clone DKFZp586K1720).
AK074048 - Homo sapiens mRNA for FLJ00119 protein.
GQ891316 - Homo sapiens clone HEL-S-39a epididymis secretory sperm binding protein mRNA, partial cds.
AB371579 - Homo sapiens FLNA mRNA for filamin A, splicing variant, complete cds, clone: HP00079-ARiS088J13.
AB371576 - Homo sapiens FLNA mRNA for filamin A, splicing variant, complete cds, clone: HP00079-ARi47G07.
AK090427 - Homo sapiens FLJ00343 mRNA for FLJ00343 protein.
BC014654 - Homo sapiens filamin A, alpha (actin binding protein 280), mRNA (cDNA clone IMAGE:4559790), complete cds.
AB371574 - Homo sapiens FLNA mRNA for filamin A, splicing variant, complete cds, clone: HP00079-ARi13C12.
BC028089 - Homo sapiens filamin A, alpha (actin binding protein 280), mRNA (cDNA clone IMAGE:4156935), with apparent retained intron.
AK300165 - Homo sapiens cDNA FLJ57890 complete cds, highly similar to Filamin-A.
AB191259 - Homo sapiens FLNA mRNA for filamin A, complete cds, clone: ARe06F05.
AB371575 - Homo sapiens FLNA mRNA for filamin A, splicing variant, complete cds, clone: HP00079-ARi37B09.
AB371577 - Homo sapiens FLNA mRNA for filamin A, splicing variant, complete cds, clone: HP00079-ARi50A09.
AB371578 - Homo sapiens FLNA mRNA for filamin A, splicing variant, complete cds, clone: HP00079-ARi66B08.
AB191260 - Homo sapiens FLNA mRNA for filamin A, complete cds, clone: ARe27E03.
AB593010 - Homo sapiens FLNA mRNA for filamin A, complete cds, clone: HP00079-RBdS070P22.
BC067111 - Homo sapiens filamin A, alpha (actin binding protein 280), mRNA (cDNA clone IMAGE:4800733), partial cds.
AL157419 - Homo sapiens mRNA; cDNA DKFZp434P031 (from clone DKFZp434P031).
GU727643 - Homo sapiens epididymis secretory sperm binding protein Li 190P mRNA, complete cds.
LF380839 - JP 2014500723-A/188342: Polycomb-Associated Non-Coding RNAs.
MA616416 - JP 2018138019-A/188342: Polycomb-Associated Non-Coding RNAs.
JD295148 - Sequence 276172 from Patent EP1572962.
X53416 - Human mRNA for actin-binding protein (filamin) (ABP-280).
AK304255 - Homo sapiens cDNA FLJ57038 complete cds, highly similar to Filamin-A.
JD338751 - Sequence 319775 from Patent EP1572962.
JD161044 - Sequence 142068 from Patent EP1572962.
JD129343 - Sequence 110367 from Patent EP1572962.
LF380840 - JP 2014500723-A/188343: Polycomb-Associated Non-Coding RNAs.
MA616417 - JP 2018138019-A/188343: Polycomb-Associated Non-Coding RNAs.
JD142045 - Sequence 123069 from Patent EP1572962.
JD120956 - Sequence 101980 from Patent EP1572962.
AB463042 - Synthetic construct DNA, clone: pF1KF0343, Homo sapiens FLNA gene for filamin A alpha, without stop codon, in Flexi system.
BC109289 - Homo sapiens filamin A, alpha (actin binding protein 280), mRNA (cDNA clone IMAGE:40034073), partial cds.
JD389256 - Sequence 370280 from Patent EP1572962.
JD389255 - Sequence 370279 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04010 - MAPK signaling pathway
hsa04510 - Focal adhesion

-  Other Names for This Gene
  Alternate Gene Symbols: A0A7P0NMY4, AK090427, ENST00000422373.1, ENST00000422373.2, ENST00000422373.3, ENST00000422373.4, ENST00000422373.5, uc010nuu.1, uc010nuu.2
UCSC ID: ENST00000422373.6
RefSeq Accession: NM_001110556

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene FLNA:
opd (X-Linked Otopalatodigital Spectrum Disorders)
x-pvh (FLNA Deficiency)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.