Tbio FLNA Filamin-A

Protein Summary

Description

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). 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]

Uniprot Accession IDs

• P21333
• E9KL45
• Q5HY53
• Q5HY55
• Q8NF52
• FLN-A

Gene Name

• FLNA

Ensembl ID

• ENST00000360319
• ENSP00000353467
• ENSG00000196924
• ENST00000369850
• ENSP00000358866
• ENST00000422373
• ENSP00000416926

Symbol

• FLN
• FLN1
• FLN
• FMD
• MNS
• OPD
• ABPX
• CSBS
• CVD1
• FGS2
• FLN1
• NHBP
• OPD1
• OPD2
• XLVD
• XMVD
• FLN-A
• ABP-280

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	1
hub protein	1
interacting protein	1
protein complex	1
molecular function	0.99

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 737.96   (req: < 5)

Gene RIFs: 204   (req: <= 3)

Antibodies: 586   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 737.96   (req: >= 5)

Gene RIFs: 204   (req: > 3)

Antibodies: 586   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 55

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

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Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (289)

Explore Interacting Targets

1 – 10 of 289

• See Interactions on String-DB

LAD1

Tbio

Novelty:  0.03059679

p_int:  0.999953904

p_ni:  0.000046096

Data Source:  BioPlex

HSPB7

Tbio

Novelty:  0.03344805

p_int:  0.999476352

p_ni:  0.000523648

Score:  0.949

Data Source:  BioPlex,STRINGDB

NUDT5

Tbio

Family:  Enzyme

Novelty:  0.02550535

p_int:  0.999424629

p_ni:  0.000575372

Data Source:  BioPlex

FAM90A1

Tdark

Novelty:  0.95155075

p_int:  0.994417952

p_ni:  0.005582048

Score:  0.234

Data Source:  BioPlex,STRINGDB

FBLIM1

Tbio

Novelty:  0.0332985

p_int:  0.976527727

p_ni:  0.023472273

Score:  0.999

Data Source:  BioPlex,Reactome,STRINGDB

CAPN6

Tbio

Novelty:  0.04489237

p_int:  0.943511427

p_ni:  0.056488573

Score:  0.329

Data Source:  BioPlex,STRINGDB

CARD8

Tbio

Family:  Enzyme

Novelty:  0.0146799

p_int:  0.92803243

p_ni:  0.07196757

Data Source:  BioPlex

APOH

Tbio

Novelty:  0.00049117

p_int:  0.921516266

p_ni:  0.078483734

Score:  0.485

Data Source:  BioPlex,STRINGDB

RAB8B

Tbio

Family:  Enzyme

Novelty:  0.06230082

p_int:  0.783698843

p_ni:  0.216301157

Score:  0.355

Data Source:  BioPlex,STRINGDB

GP1BA

Tbio

Novelty:  0.00138736

Score:  0.997

Data Source:  Reactome,STRINGDB

Nearest Tclin Targets (4)

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Upstream (4)

1 – 4 of 4

ERBB2

Tclin

Family:  Kinase

KEGG Distance:  4

Common Pathways:  3

1: Focal adhesion

2: MAPK signaling pathway

3: Proteoglycans in cancer

ROCK1

Tclin

Family:  Kinase

KEGG Distance:  4

Common Pathways:  3

1: Focal adhesion

2: Salmonella infection

3: Proteoglycans in cancer

ROCK2

Tclin

Family:  Kinase

KEGG Distance:  4

Common Pathways:  3

1: Focal adhesion

2: Salmonella infection

3: Proteoglycans in cancer

IL1R1

Tclin

Family:  Other

KEGG Distance:  4

Common Pathways:  1

1: MAPK signaling pathway

Pathways (47)

Reactome (17)

KEGG (4)

PathwayCommons (9)

WikiPathways (17)

Antiviral mechanism by IFN-stimulated genes (R-HSA-1169410)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Antiviral mechanism by IFN-stimulated genes	82 targets	R-HSA-1169410
Reactome	Cell junction organization	88 targets	R-HSA-446728
Reactome	Cell-Cell communication	121 targets	R-HSA-1500931
Reactome	Cell-extracellular matrix interactions	16 targets	R-HSA-446353
Reactome	Cytokine Signaling in Immune system	922 targets	R-HSA-1280215

Name	Explore in Pharos	Explore in Source
Antiviral mechanism by IFN-stimulated genes	82 targets	R-HSA-1169410
Cell junction organization	88 targets	R-HSA-446728
Cell-Cell communication	121 targets	R-HSA-1500931
Cell-extracellular matrix interactions	16 targets	R-HSA-446353
Cytokine Signaling in Immune system	922 targets	R-HSA-1280215

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (76)

Functions (17)

Components (21)

Processes (38)

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Items per page:

10

1 – 10 of 17

GO Term	Evidence	Assigned by
actin filament binding	Inferred from Direct Assay (IDA)	BHF-UCL
Fc-gamma receptor I complex binding	Inferred from Direct Assay (IDA)	BHF-UCL
potassium channel regulator activity	Inferred from Direct Assay (IDA)	BHF-UCL
protein homodimerization activity	Inferred from Direct Assay (IDA)	BHF-UCL
Rac GTPase binding	Inferred from Direct Assay (IDA)	BHF-UCL
Ral GTPase binding	Inferred from Direct Assay (IDA)	BHF-UCL
Rho GTPase binding	Inferred from Direct Assay (IDA)	BHF-UCL
small GTPase binding	Inferred from Direct Assay (IDA)	BHF-UCL
G protein-coupled receptor binding	Inferred from Physical Interaction (IPI)	UniProtKB
GTPase binding	Inferred from Physical Interaction (IPI)	UniProtKB

Disease Associations ()

No disease associations found

GWAS Traits (8)

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GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
reticulocyte measurement	EFO_0010700	3	3	3		91.4
reticulocyte count	EFO_0007986	2	2	2		89.6
leukocyte count	EFO_0004308	1	1	1		72.5
sex hormone-binding globulin measurement	EFO_0004696	3	2	3		57.7
bilirubin measurement	EFO_0004570	1	1	1		26.1

• Explore on Target Illumination GWAS Analytics (TIGA)

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1 – 5 of 8

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
reticulocyte measurement	EFO_0010700	3		91.4
reticulocyte count	EFO_0007986	2		89.6
leukocyte count	EFO_0004308	1		72.5
sex hormone-binding globulin measurement	EFO_0004696	3		57.7
bilirubin measurement	EFO_0004570	1		26.1

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UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Acetylation
Actin-binding
Alternative splicing
Cilium biogenesis/degradation
Complete proteome
Cytoplasm
Cytoskeleton
Deafness
Direct protein sequencing

GWAS Trait Find Similar Targets

No Header	No Header
bilirubin measurement
leukocyte count
low density lipoprotein cholesterol measurement
mean corpuscular volume
reticulocyte count
reticulocyte measurement
sex hormone-binding globulin measurement
Testicular Germ Cell Tumor

MGI Phenotype Find Similar Targets

No Header	No Header
cardiovascular system phenotype
cellular phenotype
craniofacial phenotype
digestive/alimentary phenotype
growth/size/body region phenotype
hematopoietic system phenotype
homeostasis/metabolism phenotype
immune system phenotype
liver/biliary system phenotype
mortality/aging

IDG Resources

No IDG generated resources found

Orthologs (11)

1 – 5 of 11

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Macaque	filamin A		699524
Mouse	filamin, alpha	MGI:95556	192176
Rat	filamin A	RGD:1560614	293860
Dog	filamin A	VGNC:40900	481084
Horse	filamin A	VGNC:18060	100058256

Species	Name	OMA	EggNOG	Inparanoid
Macaque	filamin A
Mouse	filamin, alpha
Rat	filamin A
Dog	filamin A
Horse	filamin A

Publication Statistics

PubMed Score 737.96

PubMed score by year

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PubTator Score 464.10

PubTator score by year

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Related Publications

Text Mined References (318)

GeneRif Annotations (204)

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PMID	Year	Title