FLNA: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

FLNA

Aliases

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

Entrez Gene ID

2316

Gene Name

Filamin A

Chromosomal Location

Xq28

HGNC ID

HGNC:3754

Summary

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]

RefSeq DNA

NG_011506.2

RefSeq mRNA

NM_001110556.2, NM_001456.3

e!Ensembl

Gene	ENSG00000196924
Transcript	ENST00000420627, ENST00000360319, ENST00000369856, ENST00000369850, ENST00000444578, ENST00000415241, ENST00000438732, ENST00000422373, ENST00000610817
Protein	ENSP00000408921, ENSP00000353467, ENSP00000358872, ENSP00000358866, ENSP00000397824, ENSP00000405458, ENSP00000398215, ENSP00000416926, ENSP00000480593

Gene Ontology (GO)

Show/Hide all(54 )

GO ID	Ontology	Function	Evidence	Reference
GO:0007195	Biological process	Adenylate cyclase-inhibiting dopamine receptor signaling pathway	IMP	10692483
GO:0016479	Biological process	Negative regulation of transcription by RNA polymerase I	IDA	22307607
GO:0030334	Biological process	Regulation of cell migration	IDA	16291724
GO:0031532	Biological process	Actin cytoskeleton reorganization	IDA	10051605
GO:0034394	Biological process	Protein localization to cell surface	IDA	18322202
GO:0042177	Biological process	Negative regulation of protein catabolic process	IMP	18322202
GO:0042307	Biological process	Positive regulation of protein import into nucleus	IMP	15684392
GO:0043066	Biological process	Negative regulation of apoptotic process	IMP	18177638
GO:0043113	Biological process	Receptor clustering	IDA	10692483
GO:0043123	Biological process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	HMP	12761501
GO:0043433	Biological process	Negative regulation of DNA-binding transcription factor activity	IDA	15684392
GO:0044319	Biological process	Wound healing, spreading of cells	IDA	16291724
GO:0045184	Biological process	Establishment of protein localization	IDA	18322202
GO:0050821	Biological process	Protein stabilization	IMP	18322202
GO:0051220	Biological process	Cytoplasmic sequestering of protein	IMP	17536008
GO:0051764	Biological process	Actin crosslink formation	IDA	10051605
GO:0060271	Biological process	Cilium assembly	IMP	22121117
GO:0070527	Biological process	Platelet aggregation	HMP	23382103
GO:0071526	Biological process	Semaphorin-plexin signaling pathway	IGI	25358863
GO:0072659	Biological process	Protein localization to plasma membrane	IDA	24951510
GO:0090307	Biological process	Mitotic spindle assembly	IDA	18548008
GO:1900026	Biological process	Positive regulation of substrate adhesion-dependent cell spreading	IMP	18177638
GO:1901381	Biological process	Positive regulation of potassium ion transmembrane transport	IDA	24951510
GO:1905031	Biological process	Regulation of membrane repolarization during cardiac muscle cell action potential	ISS	24951510
GO:2001046	Biological process	Positive regulation of integrin-mediated signaling pathway	IMP	18177638
GO:0005634	Cellular component	Nucleus	IDA	15684392
GO:0005730	Cellular component	Nucleolus	IMP	22307607
GO:0005737	Cellular component	Cytoplasm	IDA	15684392, 21914078, 25468996
GO:0005886	Cellular component	Plasma membrane	IDA	18322202
GO:0005911	Cellular component	Cell-cell junction	IDA	16291724
GO:0005925	Cellular component	Focal adhesion	HDA	21423176
GO:0015629	Cellular component	Actin cytoskeleton	IC	2391361
GO:0015629	Cellular component	Actin cytoskeleton	IDA	25358863
GO:0016020	Cellular component	Membrane	HDA	19946888
GO:0030018	Cellular component	Z disc	ISS	24951510
GO:0031523	Cellular component	Myb complex	IDA	18548008
GO:0070062	Cellular component	Extracellular exosome	HDA	19056867, 20458337, 21362503, 23533145
GO:0001664	Molecular function	G protein-coupled receptor binding	IPI	26460884
GO:0003723	Molecular function	RNA binding	HDA	22658674, 22681889
GO:0005515	Molecular function	Protein binding	IDA	1833070, 3138234
GO:0005515	Molecular function	Protein binding	IPI	4044584, 9722563, 10051605, 10692483, 12393796, 12577067, 14573758, 15684392, 16076904, 16291724, 16862148, 17408621, 17474147, 17690686, 18177638, 18322202, 19828450, 20236936, 21228480, 21524097, 21914078, 21926999, 22121117, 24021649, 25241761, 25358863, 25666618, 25849143, 26496
GO:0008134	Molecular function	Transcription factor binding	IPI	15684392
GO:0015459	Molecular function	Potassium channel regulator activity	IDA	24951510
GO:0017048	Molecular function	Rho GTPase binding	IDA	10051605
GO:0017160	Molecular function	Ral GTPase binding	IDA	10051605
GO:0019900	Molecular function	Kinase binding	IPI	20713593
GO:0031267	Molecular function	Small GTPase binding	IDA	10051605
GO:0034988	Molecular function	Fc-gamma receptor I complex binding	IDA	1833070
GO:0042803	Molecular function	Protein homodimerization activity	IDA	2391361
GO:0044325	Molecular function	Ion channel binding	IPI	24951510
GO:0045296	Molecular function	Cadherin binding	HDA	25468996
GO:0048365	Molecular function	Rac GTPase binding	IDA	10051605
GO:0051015	Molecular function	Actin filament binding	IDA	2391361, 3138234, 4044584, 25358863
GO:0051020	Molecular function	GTPase binding	IPI	16291724

Protein Information

Protein Name

Filamin-A, actin binding protein 280, alpha-filamin, endothelial actin-binding protein, epididymis secretory sperm binding protein, filamin A, alpha, filamin-1, non-muscle filamin

Function

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 FLNB 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). During the axon guidance process, required for growth cone collapse induced by SEMA3A-mediated stimulation of neurons (PubMed:25358863).

Refseq Proteins

NP_001104026.1, NP_001447.2

UniProt

P21333

PDB

3ISW, 2W0P, 4P3W, 2AAV, 2BP3, 2BRQ, 2J3S, 2JF1, 2K3T, 2K7P, 2K7Q, 2MTP, 2WFN, 3CNK, 3HOC, 3HOP, 3HOR, 3RGH, 4M9P, 5XR1, 6D8C, 6EW1

Pfam

Pfam Accession	Pfam ID
PF00307	CH
PF00630	Filamin

FLNA

Gene expression microarray profiles of cumulus cells in lean and overweight-obese polycystic ovary syndrome patients.