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Aliases & Descriptions for FLNC
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases ABP-280 1 , 2 ABP-L 3 ABP280A 2 ABPA 2 , 5 ABPL 1 , 2 , 3 , 5 FLJ10186 2 FLN2 2 , 3 , 5 Filamin-2 3 Gamma-filamin 3
Descriptions ABP-280-like protein 3 ABP-L, gamma filamin 2 Actin-binding-like protein 3 Protein FLNc 3 filamin 2 2 filamin C, gamma (actin binding protein 280) 2 filamin C, gamma (actin-binding protein-280) 1 gamma filamin 2
Search outside databases for aliases for FLNC genePrevious GC identifers: GC07M127029 GC07P126948 GC07P128010 GC07P128024 GC07P128064
Summaries for FLNC (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for FLNC : This gene encodes one of three related filamin genes, specifically gamma filamin. These filaminproteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participatein the anchoring of membrane proteins for the actin cytoskeleton. Three functional domains existin filamin: an N-terminal filamentous actin-binding domain, a C-terminal self-association domain,and a membrane glycoprotein-binding domain. Two transcript variants encoding different isoformshave been found for this gene. [provided by RefSeq] UniProtKB/Swiss-Prot: FLNC_HUMAN, Q14315 Function : Muscle-specific filamin, which plays a central role in muscle cells, probably byfunctioning as a large actin-cross-linking protein. May be involved in reorganizing the actincytoskeleton in response to signaling events, and may also display structural functions at theZ-disks in muscle cells
Gene Wiki entry for FLNC
Genomic Location for FLNC
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the FLNC gene Entrez Gene cytogenetic band: 7q32-q35 Ensembl cytogenetic band: 7q32.1 HGNC cytogenetic band: 7q32-q35 FLNC Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 7 GeneLoc Exon Structure
GeneLoc location for GC07P128257:
(about GC identifiers )
Start:
128,257,719 bp from pter
End:
128,286,572 bp from pter
Size:
28,854 bases
Orientation:
plus strand
1 alternative location : Chr 7+,CRA_TCAG 127,854,228-127,883,081
RefSeq DNA sequence: NC_000007.12 NT_007933.14 NT_079596.2 Proteins for FLNC
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: FLNC_HUMAN, Q14315 (See
protein sequence )Recommended Name: Filamin-C Size : 2725 amino acids; 290959 Da
Subunit : Homodimer. Interacts with KY (By similarity). Interacts with FLNB, KCND2, ITGB1A, INPPL1,MYOT, MYOZ1 and MYOZ3. Interacts with sarcoglycans SGCD and SGCG
Subcellular location : Cytoplasm. Membrane; Peripheral membrane protein. Cytoplasm, cytoskeleton.Cytoplasm, myofibril, sarcomere, Z-disk. Note=A small amount localizes at membranes. In striatedmuscle cells, it predominantly localizes in myofibrillar Z-disks, while a minor fraction localizeswith subsarcolemme
Developmental stage : Expressed in both differentiating and adult muscles
Miscellaneous : Silenced in MKN28 and MKN74 gastric cancer cell lines due to aberrant methylation ofthe gene
Sequence caution : Sequence=AAF80245.1; Type=Frameshift; Positions=2578, 2580, 2590;
PDB structures from and Proteopedia : 1V05 (3D)
 2D7M (3D)
 2D7N (3D)
 2D7O (3D)
 2D7P (3D)
 2D7Q (3D)
 2NQC (3D)
 
Secondary accessions : O95303 Q07985 Q9NS12 Q9NYE5 Q9UMR8 Q9Y503Alternative splicing : 2 isoforms : Q14315-1 Q14315-2
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_001120959.1 NP_001449.3 ENSEMBL proteins: ENSP00000344002 ENSP00000327145 ENSP00000373505 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 3 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for FLNC: Assays for FLNC:
Protein
Domains/ Families for FLNC(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q14315 ProtoNet protein and cluster: Q14315
2 Blocks protein families : IPB001589 Actin-binding IPB001715 Calponin-like actin-binding UniProtKB/Swiss-Prot: FLNC_HUMAN, Q14315 Domain : The intradomain insert is specific to FLNC and mediates the targeting to developing andmature Z-disks Domain : Comprised of a NH2-terminal actin-binding domain, 24 internally homologous repeats and twohinge regions. Repeat 24 and the second hinge domain are important for dimer formation Domain : The filamin 20 repeat mediates interaction with XIRP1Similarity : Belongs to the filamin familySimilarity : Contains 1 actin-binding domainSimilarity : Contains 2 CH (calponin-homology) domainsSimilarity : Contains 24 filamin repeats
Gene Function for FLNC
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
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Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
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Clones , and
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siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001458 Applied Biosystems Silencer ® siRNAs for FLNC Sigma-Aldrich siRNA for FLNC Sigma-Aldrich shRNA for FLNC Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001127487                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001127487                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_001127487  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001458 UniProtKB/Swiss-Prot: FLNC_HUMAN, Q14315 Function : Muscle-specific filamin, which plays a central role in muscle cells, probably byfunctioning as a large actin-cross-linking protein. May be involved in reorganizing the actincytoskeleton in response to signaling events, and may also display structural functions at theZ-disks in muscle cells
Genatlas biochemistry entry for FLNC :filamin C,dimeric actin cross-linking phosphoprotein of the peripheral cytoplasm
7 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Flnc) :2 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for FLNC
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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2 Sigma-Aldrich "Your Favorite Gene" Pathways for FLNC (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for FLNC 5/57 Interacting proteins for FLNC (Q14315 1 , 2 ENSP00000327145 3 ) via UniProtKB, MINT, and/or STRING (see all 57
)About this table
Drugs & Compounds for FLNC (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for FLNC 1 Novoseek chemical compound relationship for FLNC gene
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
calcium
0.00
1
16297652 (1)
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Transcripts for FLNC(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001458 Sigma-Aldrich siRNA for FLNC Sigma-Aldrich shRNA for FLNC Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001127487 NM_001458
REFSEQ mRNAs for FLNC gene (2 alternative transcripts): NM_001127487.1 NM_001458.4
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001127487 NM_001458
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001127487                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001127487                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_001127487  
Additional cDNA sequence: AB208865.1 AB371585.1 AF089841.1 AF146692.1 AJ012737.1 AK001048.1 AK126540.1 X70083.1 X70084.1
9 DOTS entries : DT.95176111 DT.100778267 DT.95185474 DT.100778266 DT.101977680 DT.100645175 DT.102840287 DT.121107385 DT.91767972
24/263 AceView cDNA sequences (see all 263
):BQ688982 AI217579 BQ687551 BF339068 BP341232 BP365940 BQ689211 AK126540 BQ671042 BQ688140 AL602841 BQ686327 BQ890092 BX499575 BQ878242 BM698365 BQ686444 BQ880730 X70084 BF432154 AI805005 BQ688470 CF552835 BU174316
highest scoring ESTs for FLNC :AJ012737 AA055362 AA196586 AA196684 AA196747 AA196947 AA211736 AA216224 AA375131 AA404397
Unigene Cluster for FLNC: Filamin C, gamma (actin binding protein 280) Hs.58414 [show with all ESTs ] Unigene Representative Sequence: AB371585 GeneLoc Exon Structure 3 Alternative Splicing Database (ASD) splice patterns (SP) for FLNC ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^ SP1 :                                                     SP2 :                                                     SP3 :                                                    
ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 SP1 :             -                                     SP2 :                                                 SP3 :                                                
About this scheme ECgene alternative splicing isoforms for FLNC 3 Ensembl transcripts including schematic representations : ENST00000346177
ENST00000325888
ENST00000388853
Expression for FLNC
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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FLNC expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for FLNC 1 / 2 / 3
3 probe-sets matching FLNC gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: CAGCTCAGCTSOURCE GeneReport for Unigene cluster: Hs.58414 Expression variation in blood from EXPOLDB for FLNC
UniProtKB/Swiss-Prot: FLNC_HUMAN, Q14315 Tissue specificity : Highly expressed in striated muscles. Weakly expressed in thyroid, fetal brain,fetal lung, retina, spinal cord and bone marrow. Not expressed in testis, pancreas, adrenal gland,placenta, liver and kidney
Orthologs for FLNC
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for FLNC gene from 5/11 species (see all 11
)
About this table Species with no ortholog for FLNC ENSEMBL Gene Tree for FLNC Paralogs for FLNC (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for FLNC gene FLNA 2 FLNB 2 SYNE1 2
SNPs/Variants for FLNC (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for FLNC (up to first 250kb)
Disorders & Mutations for FLNC
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 102565 disorders : 609524 UniProtKB/Swiss-Prot: FLNC_HUMAN, Q14315
Defects in FLNC are the cause of autosomal dominant filaminopathy [MIM:609524, 601419].Myofibrillar myopathy (MFM) is a neuromuscular disorder, usually with an adult onset,characterized by focal myofibrillar destruction and pathological cytoplasmic protein aggregations.Autosomal dominant filaminopathy is a form of MFM characterized by morphological features of MFMand clinical features of a limb-girdle myopathy. A heterozygous nonsense mutation which segregateswith the disease, has been identified in the FLNC gene
7 Novoseek disease relationships for FLNC gene
About this table GeneTests: FLNC Myofibrillar Myopathy Human Gene Mutation Database : FLNC
Medical News for FLNC (Possibly Related Articles in
Doctor's Guide )
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--
Publications for FLNC (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/86 PubMed articles for FLNC gene (see all 86
): Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7. (PubMed id 7689010) 2, 3, 4 Maestrini E.... Toniolo D. (1993) Filamin 2 (FLN2): a muscle-specific sarcoglycan interacting protein. (PubMed id 10629222) 1, 3, 4 Thompson T.G.... Kunkel L.M. (2000) A mutation in the dimerization domain of filamin C causes a novel type of autosomal dominant myofibrillar myopathy. (PubMed id 15929027) 1, 3, 4 Vorgerd M.... Huebner A. (2005) The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins. (PubMed id 16076904) 1, 3, 4 Gontier Y.... Borradori L. (2005) Characterization of muscle filamin isoforms suggests a possible role of gamma-filamin/ABP-L in sarcomeric Z-disc formation. (PubMed id 10658210) 1, 3, 4 van der Ven P.F.M....Fuerst D.O. (2000) Structural basis for vertebrate filamin dimerization. (PubMed id 15642266) 1, 3, 4 Pudas R.... Ylaenne J. (2005) Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins. (PubMed id 11842093) 1, 3, 4 Frey N. and Olson E.N. (2002) Identification of silencing of nine genes in human gastric cancers. (PubMed id 12438262) 1, 3, 4 Kaneda A.... Ushijima T. (2002) Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines. (PubMed id 11171996) 1, 3, 4 Takada F.... Beggs A.H. (2001) Comparative mapping of the actin-binding protein 280 genes in human and mouse. (PubMed id 8088838) 1, 2, 3 Gariboldi M....Antonacci R. (1994)
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Genome Databases showing FLNC
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing FLNC
(According to HUGE )
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Specialized Databases showing FLNC (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
GeneReviews http://www.genetests.org/query?gene=FLNC
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-- Services for FLNC (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for FLNC:
Recombinant Proteins (FLNC ) Antibodies (FLNC )
Search Tocris compounds for FLNC
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GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009