FLNA

FLNA
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2AAV, 2BP3, 2BRQ, 2J3S, 2JF1, 2K3T, 2K7P, 2MTP, 2W0P, 2WFN, 3CNK, 3HOC, 3HOP, 3HOR, 3ISW, 3RGH, 4M9P, 4P3W
Identifiers
Aliases	FLNA, ABP-280, ABPX, CSBS, CVD1, FLN, FLN-A, FLN1, FMD, MNS, NHBP, OPD, OPD1, OPD2, XLVD, XMVD, filamin A, FGS2
External IDs	OMIM: 300017; MGI: 95556; HomoloGene: 1119; GeneCards: FLNA; OMA:FLNA - orthologs
Gene location (Human)
Chr.	X chromosome (human)
End	154,374,634 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	73,293,426 bp
RNA expression pattern
	Top expressed in
	right coronary artery; ; popliteal artery; ; tibial arteries; ; ascending aorta; ; Descending thoracic aorta; ; body of uterus; ; saphenous vein; ; gastric mucosa; ; left coronary artery; ; muscle layer of sigmoid colon;
	Top expressed in
	tunica media of zone of aorta; ; granulocyte; ; ascending aorta; ; uterus; ; cervix; ; umbilical cord; ; external carotid artery; ; aortic valve; ; internal carotid artery; ; tail of embryo;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	protein homodimerization activity; protein-containing complex binding; transcription factor binding; mu-type opioid receptor binding; signal transducer activity; actin filament binding; small GTPase binding; kinase binding; actin binding; SMAD binding; Fc-gamma receptor I complex binding; G protein-coupled receptor binding; GTPase binding; RNA binding; potassium channel regulator activity; transmembrane transporter binding; cadherin binding; protein binding;
Cellular component	cytoplasm; membrane; focal adhesion; cortical cytoskeleton; plasma membrane; Myb complex; dendritic shaft; extracellular region; neuronal cell body; cell cortex; nucleolus; actin filament; actin cytoskeleton; perinuclear region of cytoplasm; extracellular exosome; cytoskeleton; nucleus; apical dendrite; filamentous actin; extracellular matrix; cell-cell junction; cytosol; Z discdkac;
Biological process	actin cytoskeleton reorganization; negative regulation of transcription by RNA polymerase I; negative regulation of protein catabolic process; establishment of protein localization; protein stabilization; platelet degranulation; mRNA transcription by RNA polymerase II; negative regulation of apoptotic process; receptor clustering; negative regulation of DNA-binding transcription factor activity; cytoplasmic sequestering of protein; platelet activation; mitotic spindle assembly; positive regulation of substrate adhesion-dependent cell spreading; protein localization to cell surface; cell projection organization; adenylate cyclase-inhibiting dopamine receptor signaling pathway; actin crosslink formation; positive regulation of I-kappaB kinase/NF-kappaB signaling; positive regulation of integrin-mediated signaling pathway; platelet aggregation; cell junction assembly; regulation of cell migration; wound healing, spreading of cells; semaphorin-plexin signaling pathway; formation of radial glial scaffolds; cerebral cortex development; cilium assembly; protein localization to plasma membrane; positive regulation of potassium ion transmembrane transport; regulation of membrane repolarization during atrial cardiac muscle cell action potential; regulation of membrane repolarization during cardiac muscle cell action potential; positive regulation of neural precursor cell proliferation; positive regulation of neuron migration;
	Sources:Amigo / QuickGO
Orthologs
	2316
	192176
	ENSG00000196924
	ENSMUSG00000031328
	P21333
	Q8BTM8
	NM_001110556; NM_001456
	NM_001290421; NM_010227
	NP_001104026; NP_001447
	NP_001277350; NP_034357; NP_001390993
	Wikidata
View/Edit Human	View/Edit Mouse

Filamin A, alpha (FLNA) is a protein that in humans is encoded by the FLNA gene.^[5]^[6]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000196924 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031328 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Gorlin JB, Henske E, Warren ST, Kunst CB, D'Urso M, Palmieri G, Hartwig JH, Bruns G, Kwiatkowski DJ (October 1993). "Actin-binding protein (ABP-280) filamin gene (FLN) maps telomeric to the color vision locus (R/GCP) and centromeric to G6PD in Xq28". Genomics. 17 (2): 496–8. doi:10.1006/geno.1993.1354. PMID 8406501.
^ Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO (March 2003). "Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans". Nat Genet. 33 (4): 487–91. doi:10.1038/ng1119. PMID 12612583.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000196924 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000031328 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8406501-5] Gorlin JB, Henske E, Warren ST, Kunst CB, D'Urso M, Palmieri G, Hartwig JH, Bruns G, Kwiatkowski DJ (October 1993). "Actin-binding protein (ABP-280) filamin gene (FLN) maps telomeric to the color vision locus (R/GCP) and centromeric to G6PD in Xq28". Genomics. 17 (2): 496–8. doi:10.1006/geno.1993.1354. PMID 8406501.

[pmid12612583-6] Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO (March 2003). "Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans". Nat Genet. 33 (4): 487–91. doi:10.1038/ng1119. PMID 12612583.

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