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Aliases for FLNC Gene

Aliases for FLNC Gene

  • Filamin C, Gamma 2 3
  • FLN2 3 4 6
  • ABPL 3 4 6
  • Actin Binding Protein 280 2 3
  • ABP-280-Like Protein 3 4
  • Filamin-2 3 4
  • ABPA 3 6
  • MFM5 3 6
  • MPD4 3 6
  • Filamin C, Gamma (Actin Binding Protein 280) 2
  • Actin-Binding-Like Protein 4
  • ABP-L, Gamma Filamin 3
  • Gamma-Filamin 4
  • Filamin-C 3
  • ABP-280 3
  • ABP280A 3
  • ABP-L 4
  • FLN-C 4
  • FLNc 4

External Ids for FLNC Gene

Previous HGNC Symbols for FLNC Gene

  • FLN2

Previous GeneCards Identifiers for FLNC Gene

  • GC07M127029
  • GC07P126948
  • GC07P128010
  • GC07P128024
  • GC07P128064
  • GC07P128257
  • GC07P128470
  • GC07P122832

Summaries for FLNC Gene

Entrez Gene Summary for FLNC Gene

  • This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. Three functional domains exist in 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 isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for FLNC Gene

FLNC (Filamin C, Gamma) is a Protein Coding gene. Diseases associated with FLNC include myopathy, myofibrillar, 5 and myopathy, distal, 4. Among its related pathways are MAPK signaling pathway and Proteoglycans in cancer. GO annotations related to this gene include actin binding and ankyrin binding. An important paralog of this gene is FLNA.

UniProtKB/Swiss-Prot for FLNC Gene

  • Muscle-specific filamin, which plays a central role in muscle cells, probably by functioning as a large actin-cross-linking protein. May be involved in reorganizing the actin cytoskeleton in response to signaling events, and may also display structural functions at the Z lines in muscle cells. Critical for normal myogenesis and for maintaining the structural integrity of the muscle fibers

Gene Wiki entry for FLNC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FLNC Gene

Genomics for FLNC Gene

Regulatory Elements for FLNC Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for FLNC Gene

Start:
128,830,377 bp from pter
End:
128,859,274 bp from pter
Size:
28,898 bases
Orientation:
Plus strand

Genomic View for FLNC Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FLNC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FLNC Gene

Proteins for FLNC Gene

  • Protein details for FLNC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14315-FLNC_HUMAN
    Recommended name:
    Filamin-C
    Protein Accession:
    Q14315
    Secondary Accessions:
    • B2ZZ88
    • O95303
    • Q07985
    • Q9NS12
    • Q9NYE5
    • Q9UMR8
    • Q9Y503

    Protein attributes for FLNC Gene

    Size:
    2725 amino acids
    Molecular mass:
    291022 Da
    Quaternary structure:
    • Homodimer; the filamin repeat 24 and the second hinge domain are important for dimer formation. Interacts with FLNB, INPPL1, ITGB1A, KCND2, MYOT, MYOZ1 and MYOZ3. Interacts with sarcoglycans SGCD and SGCG. Interacts (via filament repeats 17-18, 20-21 and 24) with USP25 (isoform USP25m only). Interacts with FBLIM1. Interacts with XIRP1; this interaction is mediated by filamin 20 repeat. Interacts with KY. Interacts with IGFN1 (By similarity). Interacts with MICALL2 (By similarity). Interacts with ANK3.
    Miscellaneous:
    • Silenced in MKN28 and MKN74 gastric cancer cell lines due to aberrant methylation of the gene
    SequenceCaution:
    • Sequence=AAD12245.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAF68195.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAF80245.1; Type=Frameshift; Positions=2578, 2580, 2590; Evidence={ECO:0000305}; Sequence=CAA49688.1; Type=Frameshift; Positions=778, 787; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FLNC Gene

    Alternative splice isoforms for FLNC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FLNC Gene

Proteomics data for FLNC Gene at MOPED

Post-translational modifications for FLNC Gene

  • Ubiquitinated by FBXL22, leading to proteasomal degradation.
  • Ubiquitination at Lys36, Lys80, and Lys2316
  • Modification sites at PhosphoSitePlus

Other Protein References for FLNC Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for FLNC Gene

Domains for FLNC Gene

Suggested Antigen Peptide Sequences for FLNC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14315

UniProtKB/Swiss-Prot:

FLNC_HUMAN :
  • Q14315
Domain:
  • Contains 1 actin-binding domain.
  • Contains 2 CH (calponin-homology) domains.
Family:
  • Belongs to the filamin family.
Similarity:
  • Contains 24 filamin repeats.
genes like me logo Genes that share domains with FLNC: view

No data available for Gene Families for FLNC Gene

Function for FLNC Gene

Molecular function for FLNC Gene

GENATLAS Biochemistry: filamin C,dimeric actin cross-linking phosphoprotein of the peripheral cytoplasm
UniProtKB/Swiss-Prot Function: Muscle-specific filamin, which plays a central role in muscle cells, probably by functioning as a large actin-cross-linking protein. May be involved in reorganizing the actin cytoskeleton in response to signaling events, and may also display structural functions at the Z lines in muscle cells. Critical for normal myogenesis and for maintaining the structural integrity of the muscle fibers

Gene Ontology (GO) - Molecular Function for FLNC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11038172
GO:0008092 cytoskeletal protein binding IPI 17987659
GO:0030506 ankyrin binding IPI 21223964
GO:0051015 actin filament binding IEA --
genes like me logo Genes that share ontologies with FLNC: view
genes like me logo Genes that share phenotypes with FLNC: view

Animal Models for FLNC Gene

MGI Knock Outs for FLNC:

Animal Model Products

miRNA for FLNC Gene

miRTarBase miRNAs that target FLNC

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for FLNC Gene

Localization for FLNC Gene

Subcellular locations from UniProtKB/Swiss-Prot for FLNC Gene

Cytoplasm. Membrane; Peripheral membrane protein. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Note=A small amount localizes at membranes. In striated muscle cells, it predominantly localizes in myofibrillar Z lines, while a minor fraction localizes with subsarcolemme. Targeting to developing and mature Z lines is mediated by the intradomain insert.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FLNC Gene COMPARTMENTS Subcellular localization image for FLNC gene
Compartment Confidence
cytoskeleton 5
cytosol 4
plasma membrane 4
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for FLNC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IDA --
GO:0005925 focal adhesion IDA 21423176
genes like me logo Genes that share ontologies with FLNC: view

Pathways for FLNC Gene

genes like me logo Genes that share pathways with FLNC: view

Pathways by source for FLNC Gene

Gene Ontology (GO) - Biological Process for FLNC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034329 cell junction assembly TAS --
GO:0048747 muscle fiber development IEA --
genes like me logo Genes that share ontologies with FLNC: view

Compounds for FLNC Gene

(1) Novoseek inferred chemical compound relationships for FLNC Gene

Compound -log(P) Hits PubMed IDs
calcium 0 1
genes like me logo Genes that share compounds with FLNC: view

Transcripts for FLNC Gene

mRNA/cDNA for FLNC Gene

Unigene Clusters for FLNC Gene

Filamin C, gamma:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FLNC

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for FLNC

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FLNC Gene

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:

Relevant External Links for FLNC Gene

GeneLoc Exon Structure for
FLNC
ECgene alternative splicing isoforms for
FLNC

Expression for FLNC Gene

mRNA expression in normal human tissues for FLNC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FLNC Gene

This gene is overexpressed in Muscle - Skeletal (17.9) and Heart - Left Ventricle (11.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FLNC Gene

SOURCE GeneReport for Unigene cluster for FLNC Gene Hs.58414

mRNA Expression by UniProt/SwissProt for FLNC Gene

Q14315-FLNC_HUMAN
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.
genes like me logo Genes that share expressions with FLNC: view

In Situ Assay Products

Orthologs for FLNC Gene

This gene was present in the common ancestor of animals.

Orthologs for FLNC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FLNC 35
  • 99.35 (n)
  • 99.89 (a)
FLNC 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FLNC 35
  • 91.94 (n)
  • 99 (a)
FLNC 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FLNC 35
  • 92.04 (n)
  • 98.23 (a)
FLNC 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Flnc 35
  • 89.6 (n)
  • 98.31 (a)
Flnc 16
Flnc 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FLNC 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FLNC 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Flnc 35
  • 89.54 (n)
  • 98.28 (a)
chicken
(Gallus gallus)
Aves FLNC 35
  • 71.76 (n)
  • 72.76 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 89 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.14402 35
tropical clawed frog
(Silurana tropicalis)
Amphibia flnc 35
  • 74.68 (n)
  • 87.03 (a)
Str.9731 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4437 35
zebrafish
(Danio rerio)
Actinopterygii flnca 35
  • 71.72 (n)
  • 79.74 (a)
flnca 36
  • 79 (a)
OneToMany
flncb 36
  • 83 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG5984 36
  • 42 (a)
ManyToMany
cher 36
  • 51 (a)
ManyToMany
jbug 36
  • 21 (a)
ManyToMany
jbug 37
  • 24 (a)
worm
(Caenorhabditis elegans)
Secernentea fln-1 36
  • 36 (a)
ManyToMany
fln-2 36
  • 18 (a)
ManyToMany
Y66H1B.3 37
  • 34 (a)
C23F12.2 37
  • 42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToOne
Species with no ortholog for FLNC:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FLNC Gene

ENSEMBL:
Gene Tree for FLNC (if available)
TreeFam:
Gene Tree for FLNC (if available)

Paralogs for FLNC Gene

Paralogs for FLNC Gene

Selected SIMAP similar genes for FLNC Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for FLNC Gene

genes like me logo Genes that share paralogs with FLNC: view

Variants for FLNC Gene

Sequence variations from dbSNP and Humsavar for FLNC Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs14405 -- 128,859,000(+) AAAGC(A/C)CAATC utr-variant-3-prime
rs754921 -- 128,828,479(+) GCCAC(A/G)CACAG upstream-variant-2KB
rs902839 -- 128,859,488(+) AAGGG(C/G/T)TCCCA downstream-variant-500B
rs1048458 -- 128,859,172(+) TTTAC(A/C)CACTG utr-variant-3-prime
rs1048459 -- 128,859,192(+) GCTTT(C/T)TAGGG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for FLNC Gene

Variant ID Type Subtype PubMed ID
esv2735137 CNV Deletion 23290073
esv2670312 CNV Deletion 23128226
nsv831125 CNV Loss 17160897
esv22837 CNV Gain 19812545
nsv889192 CNV Loss 21882294
nsv517923 CNV Gain 19592680
nsv464713 CNV Loss 19166990
nsv818553 CNV Gain 17921354
dgv7490n71 CNV Loss 21882294
nsv464715 CNV Loss 19166990
esv2675111 CNV Deletion 23128226
nsv464717 CNV Loss 19166990
nsv470392 CNV Gain 18288195
nsv517371 CNV Gain+Loss 19592680
nsv889196 CNV Gain 21882294
nsv889198 CNV Loss 21882294

Relevant External Links for FLNC Gene

HapMap Linkage Disequilibrium report
FLNC
Human Gene Mutation Database (HGMD)
FLNC
Locus Specific Mutation Databases (LSDB)
FLNC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FLNC Gene

Disorders for FLNC Gene

(2) OMIM Diseases for FLNC Gene (102565)

UniProtKB/Swiss-Prot

FLNC_HUMAN
  • Myopathy, myofibrillar, 5 (MFM5) [MIM:609524]: A neuromuscular disorder, usually with an adult onset, characterized by focal myofibrillar destruction, pathological cytoplasmic protein aggregations, and clinical features of a limb-girdle myopathy. {ECO:0000269 PubMed:15929027}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myopathy, distal, 4 (MPD4) [MIM:614065]: A slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows non-specific changes with no evidence of rods, necrosis, or inflammation. {ECO:0000269 PubMed:21620354}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(6) University of Copenhagen DISEASES for FLNC Gene

(8) Novoseek inferred disease relationships for FLNC Gene

Disease -log(P) Hits PubMed IDs
lgmd1a 92.4 1
muscular dystrophy limb-girdle 83.6 1
limb girdle 79.2 1
myopathy 75.2 8
muscular dystrophies 74.5 2

Relevant External Links for FLNC

GeneTests
FLNC
GeneReviews
FLNC
Genetic Association Database (GAD)
FLNC
Human Genome Epidemiology (HuGE) Navigator
FLNC
genes like me logo Genes that share disorders with FLNC: view

Publications for FLNC Gene

  1. Comparative mapping of the actin-binding protein 280 genes in human and mouse. (PMID: 8088838) Gariboldi M. … Antonacci R. (Genomics 1994) 2 3 23
  2. Filamin 2 (FLN2): a muscle-specific sarcoglycan interacting protein. (PMID: 10629222) Thompson T.G. … Kunkel L.M. (J. Cell Biol. 2000) 3 4 23
  3. Characterization of muscle filamin isoforms suggests a possible role of gamma-filamin/ABP-L in sarcomeric Z-disc formation. (PMID: 10658210) van der Ven P.F.M. … Fuerst D.O. (Cell Motil. Cytoskeleton 2000) 3 4 23
  4. Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines. (PMID: 11171996) Takada F. … Beggs A.H. (Proc. Natl. Acad. Sci. U.S.A. 2001) 3 4 23
  5. Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins. (PMID: 11842093) Frey N. … Olson E.N. (J. Biol. Chem. 2002) 3 4 23

Products for FLNC Gene

Sources for FLNC Gene

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