FLNA (filamin A)

2003-11-01  

Identity

HGNC
FLNA
LOCATION
Xq28
LOCUSID
2316
ALIAS
ABP-280,ABPX,CSBS,CVD1,FGS2,FLN,FLN-A,FLN1,FMD,MNS,NHBP,OPD,OPD1,OPD2,XLVD,XMVD
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
378552682024FLNA expression modulates pathological markers of pituitary neuroendocrine tumours.0
379224952024GPIbα-filamin A interaction regulates megakaryocyte localization and budding during platelet biogenesis.3
380109112024Filamin A is involved in human intrahepatic cholangiocarcinoma aggressiveness and progression.0
381316672024Digenic FLNA and UCHL1 variants resulting in a complex phenotype.0
386843002024[Phenotypic and genetic analysis of a Chinese pedigree affected with type 1 Otopalatodigital syndrome].0
378552682024FLNA expression modulates pathological markers of pituitary neuroendocrine tumours.0
379224952024GPIbα-filamin A interaction regulates megakaryocyte localization and budding during platelet biogenesis.3
380109112024Filamin A is involved in human intrahepatic cholangiocarcinoma aggressiveness and progression.0
381316672024Digenic FLNA and UCHL1 variants resulting in a complex phenotype.0
386843002024[Phenotypic and genetic analysis of a Chinese pedigree affected with type 1 Otopalatodigital syndrome].0
359810532023The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction.3
367341192023Mutation of FLNA attenuating the migration of abdominal muscles contributed to Melnick-Needles syndrome (MNS) in a family with recurrent miscarriage.1
368069432023The force-dependent filamin A-G3BP1 interaction regulates phase-separated stress granule formation.2
368632132023Filamin A is overexpressed in non-alcoholic steatohepatitis and contributes to the progression of inflammation and fibrosis.0
370407192023LINC01002 Targets miR-650/FLNA Pathway to Suppress Prostate Cancer Progression.1

Citation

Dessen P

FLNA (filamin A)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/40608/img/gene-explorer/gene-explorer/