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Aliases for FLNC Gene

Aliases for FLNC Gene

  • Filamin C 2 3 5
  • Actin Binding Protein 280 2 3
  • ABP-280-Like Protein 3 4
  • Filamin C, Gamma 2 3
  • Gamma Filamin 2 3
  • Filamin-2 3 4
  • FLN2 3 4
  • ABPL 3 4
  • 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
  • CMH26 3
  • ABP-L 4
  • FLN-C 4
  • ABPA 3
  • MFM5 3
  • MPD4 3
  • RCM5 3
  • 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) is a Protein Coding gene. Diseases associated with FLNC include Myopathy, Distal, 4 and Myopathy, Myofibrillar, 5. Among its related pathways are Salmonella infection (KEGG) and ERK Signaling. GO annotations related to this gene include actin filament 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

Enhancers for FLNC Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F128912 0.3 FANTOM5 17.9 +82.4 82381 0.1 KLF1 GLIS1 ZBTB33 FLNC IRF5 OPN1SW KCP LOC392787
GH07F128858 1.4 Ensembl ENCODE 12.3 +29.7 29661 3.0 HDGF PKNOX1 ARNT SIN3A YBX1 CBX5 GATA2 KDM4B NCOA1 ZNF623 CCDC136 OPN1SW ENSG00000243230 SMO FLNC RBM28 IMP3P2 ENSG00000241493 FAM71F2 LOC392787
GH07F128804 0.4 ENCODE 12.3 -25.8 -25756 0.2 RFX1 ZNF687 DPF2 RAD51 SCRT2 ZNF143 FOSL2 FOS FLNC OPN1SW IMP3P2 ENSG00000241493 FAM71F2 CCDC136 GC07P128820 PIR31734
GH07F128800 0.2 ENCODE 11.7 -29.3 -29280 0.9 JUNB OPN1SW FLNC ATP6V1F ENSG00000242902 CALU IMP3P2 FAM71F2 ENSG00000241493 FAM71F1 CCDC136
GH07F128862 0.4 ENCODE 11.6 +32.8 32829 2.4 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ENSG00000243230 RPS10P15 FLNC RN7SL81P OPN1SW CCDC136 ATP6V1F LOC100130705
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around FLNC on UCSC Golden Path with GeneCards custom track

Promoters for FLNC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001563759 1023 2401 HDGF ATF1 PKNOX1 CREB3L1 SIN3A GATA2 KDM4B ZNF263 NCOA1 MBD2

Genomic Location for FLNC Gene

Chromosome:
7
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

Genes around FLNC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FLNC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for FLNC Gene

  • Ubiquitinated by FBXL22, leading to proteasomal degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FLNC Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for FLNC (FLNC)

No data available for DME Specific Peptides for FLNC Gene

Domains & Families 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 :
  • Contains 1 actin-binding domain.
  • Belongs to the filamin family.
  • Contains 24 filamin repeats.
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

Human Phenotype Ontology for FLNC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FLNC Gene

MGI Knock Outs for FLNC:

Animal Model Products

miRNA for FLNC Gene

miRTarBase miRNAs that target FLNC

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
cytosol 5
plasma membrane 5
cytoskeleton 4
extracellular 2
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 12393796
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 & Interactions 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

No data available for SIGNOR curated interactions for FLNC Gene

Drugs & Compounds for FLNC Gene

(1) Drugs for FLNC Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with FLNC: view

Transcripts for FLNC Gene

Unigene Clusters for FLNC Gene

Filamin C, gamma:
Representative Sequences:

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and SAGE 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 (x17.9) and Heart - Left Ventricle (x11.2).

Protein differential expression in normal tissues from HIPED for FLNC Gene

This gene is overexpressed in Urinary Bladder (13.4), Colon muscle (10.9), and Prostate (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FLNC Gene



Protein tissue co-expression partners for FLNC Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FLNC Gene:

FLNC

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 expression patterns with FLNC: view

Primer 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 34 35
  • 99.35 (n)
oppossum
(Monodelphis domestica)
Mammalia FLNC 35
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FLNC 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FLNC 34 35
  • 92.04 (n)
cow
(Bos Taurus)
Mammalia FLNC 34 35
  • 91.94 (n)
mouse
(Mus musculus)
Mammalia Flnc 34 16 35
  • 89.6 (n)
rat
(Rattus norvegicus)
Mammalia Flnc 34
  • 89.54 (n)
chicken
(Gallus gallus)
Aves FLNC 34
  • 71.76 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 89 (a)
OneToMany
-- 35
  • 83 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia flnc 34
  • 74.68 (n)
Str.9731 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.14402 34
zebrafish
(Danio rerio)
Actinopterygii flncb 35
  • 83 (a)
OneToMany
flnca 34 35
  • 71.72 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4437 34
fruit fly
(Drosophila melanogaster)
Insecta cher 35
  • 51 (a)
ManyToMany
CG5984 35
  • 42 (a)
ManyToMany
jbug 36 35
  • 24 (a)
worm
(Caenorhabditis elegans)
Secernentea C23F12.2 36
  • 42 (a)
fln-1 35
  • 36 (a)
ManyToMany
Y66H1B.3 36
  • 34 (a)
fln-2 35
  • 18 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
OneToOne
Species where no ortholog for FLNC was found in the sources mined by GeneCards:
  • 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

(6) 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
rs387906586 Myopathy, distal, 4 (MPD4) [MIM:614065], Pathogenic 128,837,450(+) TGTTA(C/T)GACCT reference, missense
rs387906587 Myopathy, distal, 4 (MPD4) [MIM:614065], Pathogenic 128,835,550(+) TGGGC(A/G)CCCTG reference, missense
VAR_077036 Cardiomyopathy, familial hypertrophic 26 (CMH26) [MIM:617047]
VAR_077038 Cardiomyopathy, familial hypertrophic 26 (CMH26) [MIM:617047]
VAR_077039 Cardiomyopathy, familial restrictive 5 (RCM5) [MIM:617047]

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

Variant ID Type Subtype PubMed ID
dgv11611n54 CNV loss 21841781
dgv11612n54 CNV loss 21841781
dgv11613n54 CNV loss 21841781
dgv11614n54 CNV loss 21841781
esv22837 CNV gain 19812545
esv2670312 CNV deletion 23128226
esv2675111 CNV deletion 23128226
esv2735137 CNV deletion 23290073
nsv464713 CNV loss 19166990
nsv464715 CNV loss 19166990
nsv464717 CNV loss 19166990
nsv470392 CNV gain 18288195
nsv517371 CNV gain+loss 19592680
nsv517923 CNV gain 19592680
nsv608408 CNV gain 21841781
nsv608409 CNV loss 21841781
nsv608410 CNV loss 21841781
nsv608411 CNV loss 21841781
nsv608414 CNV loss 21841781
nsv818553 CNV gain 17921354
nsv831125 CNV loss 17160897
nsv949943 CNV deletion 24416366

Variation tolerance for FLNC Gene

Residual Variation Intolerance Score: 0.494% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.95; 74.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FLNC Gene

Human Gene Mutation Database (HGMD)
FLNC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FLNC

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

Disorders for FLNC Gene

MalaCards: The human disease database

(28) MalaCards diseases for FLNC Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myopathy, distal, 4
  • distal myopathy 4
myopathy, myofibrillar, 5
  • myofibrillar myopathy 5
cardiomyopathy, familial restrictive 5
  • cardiomyopathy, familial hypertrophic 26
familial isolated restrictive cardiomyopathy
  • familial or idiopathic restrictive cardiomyopathy
opportunistic mycosis
  • opportunistic mycoses
- elite association - COSMIC cancer census association via MalaCards
Search FLNC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FLNC_HUMAN
  • 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.
  • Myopathy, myofibrillar, 5 (MFM5) [MIM:609524]: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disc and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM5 is characterized by onset in adulthood, clinical features of a limb-girdle myopathy, and focal myofibrillar destruction. {ECO:0000269 PubMed:15929027}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FLNC

Genetic Association Database (GAD)
FLNC
Human Genome Epidemiology (HuGE) Navigator
FLNC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FLNC
genes like me logo Genes that share disorders with FLNC: view

No data available for Genatlas for FLNC Gene

Publications for FLNC Gene

  1. Candidate-gene testing for orphan limb-girdle muscular dystrophies. (PMID: 19472918) Aurino S. … Nigro V. (Acta Myol 2008) 3 22 46 64
  2. Crystal structure of human filamin C domain 23 and small angle scattering model for filamin C 23-24 dimer. (PMID: 17379241) Sjekloca L. … Djinovic Carugo K. (J. Mol. Biol. 2007) 3 4 22 64
  3. The ubiquitin-specific protease USP25 interacts with three sarcomeric proteins. (PMID: 16501887) Bosch-Comas A. … Marfany G. (Cell. Mol. Life Sci. 2006) 3 4 22 64
  4. Unusual splicing events result in distinct Xin isoforms that associate differentially with filamin c and Mena/VASP. (PMID: 16631741) van der Ven P.F.M. … Fuerst D.O. (Exp. Cell Res. 2006) 3 4 22 64
  5. The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins. (PMID: 16076904) Gontier Y. … Borradori L. (J. Cell Sci. 2005) 3 4 22 64

Products for FLNC Gene

Sources for FLNC Gene

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