FLNA (filamin A)

2003-11-01  

Identity

HGNC
LOCATION
Xq28
LOCUSID
ALIAS
ABP-280,ABPX,CSBS,CVD1,FGS2,FLN,FLN-A,FLN1,FMD,MNS,NHBP,OPD,OPD1,OPD2,XLVD,XMVD
FUSION GENES

Other Information

Locus ID:

NCBI: 2316
MIM: 300017
HGNC: 3754
Ensembl: ENSG00000196924

Variants:

dbSNP: 2316
ClinVar: 2316
TCGA: ENSG00000196924
COSMIC: FLNA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196924ENST00000360319P21333
ENSG00000196924ENST00000369850P21333
ENSG00000196924ENST00000369856Q60FE5
ENSG00000196924ENST00000415241H7C2E7
ENSG00000196924ENST00000420627F8WE98
ENSG00000196924ENST00000422373P21333
ENSG00000196924ENST00000438732H0Y5F3
ENSG00000196924ENST00000444578H0Y5C6
ENSG00000196924ENST00000610817A0A087WWY3

Expression (GTEx)

0
500
1000
1500
2000
2500
3000
3500
4000
4500
5000

Pathways

PathwaySourceExternal ID
MAPK signaling pathwayKEGGko04010
Focal adhesionKEGGko04510
MAPK signaling pathwayKEGGhsa04010
Focal adhesionKEGGhsa04510
Salmonella infectionKEGGko05132
Salmonella infectionKEGGhsa05132
Proteoglycans in cancerKEGGhsa05205
Proteoglycans in cancerKEGGko05205
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
GP1b-IX-V activation signallingREACTOMER-HSA-430116
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases activate PAKsREACTOMER-HSA-5627123
Cell-Cell communicationREACTOMER-HSA-1500931
Cell junction organizationREACTOMER-HSA-446728
Cell-extracellular matrix interactionsREACTOMER-HSA-446353

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
211697332011The filamins: organizers of cell structure and function.143
219269992011Mechanical strain in actin networks regulates FilGAP and integrin binding to filamin A.121
121984932002Filamin is essential in actin cytoskeletal assembly mediated by p21-activated kinase 1.118
126125832003Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.109
180564142007Structural basis of filamin A functions.108
175726682007Filamin-A regulates actin-dependent clustering of HIV receptors.87
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
171908682007Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.74
176906862007Structure of three tandem filamin domains reveals auto-inhibition of ligand binding.71
126822922003Filamin-A fragment localizes to the nucleus to regulate androgen receptor and coactivator functions.69

Citation

Dessen P

FLNA (filamin A)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/40608/flna-(filamin-a)