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FLNC (filamin C)

Identity

Other namesABP-280
ABP280A
ABPA
ABPL
FLN2
MFM5
MPD4
HGNC (Hugo) FLNC
LocusID (NCBI) 2318
Atlas_Id 50957
Location 7q32.1  [Link to chromosome band 7q32]
Location_base_pair Starts at 128470483 and ends at 128499328 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
BGN (Xq28) / FLNC (7q32.1)FLNC (7q32.1) / ATP6V1F (7q32.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)FLNC   3756
Cards
Entrez_Gene (NCBI)FLNC  2318  filamin C
AliasesABP-280; ABP280A; ABPA; ABPL; 
FLN2; MFM5; MPD4
GeneCards (Weizmann)FLNC
Ensembl hg19 (Hinxton)ENSG00000128591 [Gene_View]  chr7:128470483-128499328 [Contig_View]  FLNC [Vega]
Ensembl hg38 (Hinxton)ENSG00000128591 [Gene_View]  chr7:128470483-128499328 [Contig_View]  FLNC [Vega]
ICGC DataPortalENSG00000128591
TCGA cBioPortalFLNC
AceView (NCBI)FLNC
Genatlas (Paris)FLNC
WikiGenes2318
SOURCE (Princeton)FLNC
Genomic and cartography
GoldenPath hg19 (UCSC)FLNC  -     chr7:128470483-128499328 +  7q32.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)FLNC  -     7q32.1   [Description]    (hg38-Dec_2013)
EnsemblFLNC - 7q32.1 [CytoView hg19]  FLNC - 7q32.1 [CytoView hg38]
Mapping of homologs : NCBIFLNC [Mapview hg19]  FLNC [Mapview hg38]
OMIM102565   609524   614065   
Gene and transcription
Genbank (Entrez)AB208865 AB371585 AF089841 AF146692 AJ012737
RefSeq transcript (Entrez)NM_001127487 NM_001458
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_011807 NT_007933 NW_004929332
Consensus coding sequences : CCDS (NCBI)FLNC
Cluster EST : UnigeneHs.58414 [ NCBI ]
CGAP (NCI)Hs.58414
Alternative Splicing GalleryENSG00000128591
Gene ExpressionFLNC [ NCBI-GEO ]   FLNC [ EBI - ARRAY_EXPRESS ]   FLNC [ SEEK ]   FLNC [ MEM ]
Gene Expression Viewer (FireBrowse)FLNC [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2318
GTEX Portal (Tissue expression)FLNC
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14315 (Uniprot)
NextProtQ14315  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14315
Splice isoforms : SwissVarQ14315 (Swissvar)
PhosPhoSitePlusQ14315
Domaine pattern : Prosite (Expaxy)ACTININ_1 (PS00019)    ACTININ_2 (PS00020)    CH (PS50021)    FILAMIN_REPEAT (PS50194)   
Domains : Interpro (EBI)Actinin_actin-bd_CS    CH-domain    Filamin/ABP280_repeat-like    Filamin/ABP280_rpt    FLN_C    FN3_dom    Ig-like_fold    Ig_E-set   
Domain families : Pfam (Sanger)CH (PF00307)    Filamin (PF00630)   
Domain families : Pfam (NCBI)pfam00307    pfam00630   
Domain families : Smart (EMBL)CH (SM00033)  FN3 (SM00060)  IG_FLMN (SM00557)  
DMDM Disease mutations2318
Blocks (Seattle)FLNC
PDB (SRS)1V05    2D7M    2D7N    2D7O    2D7P    2D7Q    2K9U    2NQC    3V8O    4MGX   
PDB (PDBSum)1V05    2D7M    2D7N    2D7O    2D7P    2D7Q    2K9U    2NQC    3V8O    4MGX   
PDB (IMB)1V05    2D7M    2D7N    2D7O    2D7P    2D7Q    2K9U    2NQC    3V8O    4MGX   
PDB (RSDB)1V05    2D7M    2D7N    2D7O    2D7P    2D7Q    2K9U    2NQC    3V8O    4MGX   
Structural Biology KnowledgeBase1V05    2D7M    2D7N    2D7O    2D7P    2D7Q    2K9U    2NQC    3V8O    4MGX   
SCOP (Structural Classification of Proteins)1V05    2D7M    2D7N    2D7O    2D7P    2D7Q    2K9U    2NQC    3V8O    4MGX   
CATH (Classification of proteins structures)1V05    2D7M    2D7N    2D7O    2D7P    2D7Q    2K9U    2NQC    3V8O    4MGX   
SuperfamilyQ14315
Human Protein AtlasENSG00000128591
Peptide AtlasQ14315
HPRD00018
IPIIPI00178352   IPI00413958   
Protein Interaction databases
DIP (DOE-UCLA)Q14315
IntAct (EBI)Q14315
FunCoupENSG00000128591
BioGRIDFLNC
STRING (EMBL)FLNC
ZODIACFLNC
Ontologies - Pathways
QuickGOQ14315
Ontology : AmiGOprotein binding  cytoplasm  cytosol  cytoskeleton  plasma membrane  focal adhesion  cytoskeletal protein binding  sarcoplasm  Z disc  ankyrin binding  cell junction assembly  sarcolemma  costamere  muscle fiber development  actin filament binding  
Ontology : EGO-EBIprotein binding  cytoplasm  cytosol  cytoskeleton  plasma membrane  focal adhesion  cytoskeletal protein binding  sarcoplasm  Z disc  ankyrin binding  cell junction assembly  sarcolemma  costamere  muscle fiber development  actin filament binding  
Pathways : KEGGMAPK signaling pathway    Focal adhesion    Salmonella infection    Proteoglycans in cancer   
NDEx NetworkFLNC
Atlas of Cancer Signalling NetworkFLNC
Wikipedia pathwaysFLNC
Orthology - Evolution
OrthoDB2318
GeneTree (enSembl)ENSG00000128591
Phylogenetic Trees/Animal Genes : TreeFamFLNC
Homologs : HomoloGeneFLNC
Homology/Alignments : Family Browser (UCSC)FLNC
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerFLNC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FLNC
dbVarFLNC
ClinVarFLNC
1000_GenomesFLNC 
Exome Variant ServerFLNC
ExAC (Exome Aggregation Consortium)FLNC (select the gene name)
Genetic variants : HAPMAP2318
Genomic Variants (DGV)FLNC [DGVbeta]
Mutations
ICGC Data PortalFLNC 
TCGA Data PortalFLNC 
Broad Tumor PortalFLNC
OASIS PortalFLNC [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFLNC 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch FLNC
DgiDB (Drug Gene Interaction Database)FLNC
DoCM (Curated mutations)FLNC (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FLNC (select a term)
intoGenFLNC
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)7:128470483-128499328  ENSG00000128591
CONAN: Copy Number AnalysisFLNC 
Mutations and Diseases : HGMDFLNC
OMIM102565    609524    614065   
MedgenFLNC
Genetic Testing Registry FLNC
NextProtQ14315 [Medical]
TSGene2318
GENETestsFLNC
Huge Navigator FLNC [HugePedia]
snp3D : Map Gene to Disease2318
BioCentury BCIQFLNC
ClinGenFLNC
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2318
Chemical/Pharm GKB GenePA28174
Clinical trialFLNC
Miscellaneous
canSAR (ICR)FLNC (select the gene name)
Probes
Litterature
PubMed100 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFLNC
EVEXFLNC
GoPubMedFLNC
iHOPFLNC
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 19 18:49:30 CEST 2016

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