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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]
FLNA (Filamin A) is a Protein Coding gene. Diseases associated with FLNA include Melnick-Needles Syndrome and Otopalatodigital Syndrome, Type Ii. Among its related pathways are Signaling by GPCR and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include transcription factor binding. An important paralog of this gene is FLNC.
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:0005515 | protein binding | IEA,IPI | 4044584 |
GO:0008134 | transcription factor binding | IPI | 15684392 |
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 | IEA,IDA | 15684392 |
GO:0005829 | cytosol | IDA,TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
2 | Cell junction organization | ||
3 | Focal Adhesion |
.61
|
.61
|
4 | MAPK signaling pathway | ||
5 | MAPK Erk Pathway |
.32
|
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 | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
(5r)-5-Amino-6-Hydroxyhexylcarbamic Acid | Experimental | Pharma | Target | 0 | ||
2-Phenylethanol | Experimental | Pharma | Target | 9 | ||
Diethyl 4-Methylbenzylphosphonate | Experimental | Pharma | Target, Target | 0 | ||
Dihydroartemisinin | Experimental, Investigational | Pharma | Target, ligand | 115 | ||
Diisopropyl methylphosphonate | Experimental | Pharma | Target, Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | FLNA 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FLNA 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FLNA 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FLNA 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Flna 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Flna 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FLNA 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | FLNA 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.3723 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | flna 31 |
|
OneToOne | |
wufb98b06 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004335 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | cher 30 31 32 |
|
ManyToMany | |
CG5984 31 |
|
ManyToMany | |||
jbug 31 32 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | fln-1 30 31 |
|
ManyToMany | |
C23F12.2 32 |
|
|
|||
Y66H1B.2 32 |
|
|
|||
Y66H1B.3 32 |
|
|
|||
fln-2 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
11779 | Pathogenic: Cardiac valvular dysplasia, X-linked | 154,361,812(-) | GGGTATTTAGAGACAC | SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT | |
626251 | Likely Pathogenic: Periventricular nodular heterotopia 1 | 154,366,417(-) | G/C | NONSENSE | |
635974 | Pathogenic: Cardiac valvular dysplasia, X-linked | 154,364,720(-) | C/G | SPLICE_ACCEPTOR_VARIANT | |
635975 | Likely Pathogenic: Cardiac valvular dysplasia, X-linked | 154,358,294(-) | C/T | MISSENSE_VARIANT | |
636334 | Uncertain Significance: not provided | 154,353,293(-) | T/C | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
melnick-needles syndrome |
|
|
otopalatodigital syndrome, type ii |
|
|
otopalatodigital syndrome, type i |
|
|
cardiac valvular dysplasia, x-linked |
|
|
terminal osseous dysplasia |
|