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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FLNC Gene

protein-coding GIFtS: 64
GCID: GC07P128470

filamin C, gamma

(Previous names: filamin C, gamma (actin binding protein 280) )
(Previous symbol: FLN2)

Explore 24 diseases affiliated with
FLNC via

MalaCards

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Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Filamin C, Gamma¹ ²		MPD4²
ABPL¹ ² ³ ⁵		ABP-L, Gamma Filamin²
FLN2¹ ² ³ ⁵		Actin Binding Protein 280²
ABP-280¹ ²		Filamin 2²
Actin-Binding-Like Protein² ³		Filamin-2³
FLN-C² ³		Filamin-C¹
ABP-280-Like Protein² ³		ABP-L³
ABPA² ⁵		FLNc³
Filamin C, Gamma (Actin Binding Protein 280)¹		Filamin-2³
ABP280A²		Gamma-Filamin¹
MFM5²

External Ids:	HGNC: 3756¹	Entrez Gene: 2318²	Ensembl: ENSG00000128591⁷	OMIM: 102565⁵	UniProtKB: Q14315³

Export aliases for FLNC gene to outside databases

Previous GC identifers: GC07M127029 GC07P126948 GC07P128010 GC07P128024 GC07P128064 GC07P128257 GC07P122832

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FLNC:

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)

UniProtKB/Swiss-Prot: FLNC_HUMAN, Q14315

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 Wiki entry for FLNC

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 NT_007933.15 NT_079596.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FLNC gene promoter:
STAT5B GATA-3 SREBP-1c Nkx2-5 IRF-1 SREBP-1b GATA-2 GATA-1 Roaz SREBP-1a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): FLNC promoter sequence

Search SABiosciences Chromatin IP Primers for FLNC

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FLNC

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

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)
FLNC gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07P128470: view genomic region (about GC identifiers)

Start:	128,470,431 bp from pter	End:	128,499,328 bp from pter
Size:	28,898 bases	Orientation:	plus strand

1 alternative location:

Chr7+,CRA_TCAG 127,854,228-127,883,073

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FLNC_HUMAN, Q14315 (See protein sequence)

Recommended Name: Filamin-C

Size: 2725 amino acids; 291022 Da

Subunit: Homodimer. Interacts with KY. Interacts with IGFN1 (By similarity). Interacts with FLNB, KCND2, ITGB1A,

INPPL1, 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

Subcellular location: 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

Developmental stage: Expressed in both differentiating and adult muscles

Miscellaneous: Silenced in MKN28 and MKN74 gastric cancer cell lines due to aberrant methylation of the gene

Sequence caution: Sequence=AAD12245.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=AAF68195.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAF80245.1;

Type=Frameshift; Positions=2578, 2580, 2590; Sequence=CAA49688.1; Type=Frameshift; Positions=778, 787;

6/8 PDB 3D structures from and Proteopedia for FLNC (see all 8):

1V05 (3D)

2D7M (3D)

2D7N (3D)

2D7O (3D)

2D7P (3D)

2D7Q (3D)

Secondary accessions: B2ZZ88 O95303 Q07985 Q9NS12 Q9NYE5 Q9UMR8 Q9Y503

Alternative splicing: 2 isoforms: Q14315-1 Q14315-2

Explore the universe of human proteins at neXtProt for FLNC: NX_Q14315

Post-translational modifications:

Ubiquitinated by FBXL22, leading to proteasomal degradation¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q14315

FLNC Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001120959.1 NP_001449.3

ENSEMBL proteins:

ENSP00000327145 ENSP00000344002

Reactome Protein details: Q14315
Human Recombinant Protein Products:

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	GenScript Custom Purified and Recombinant Proteins Services for FLNC
	Novus Biologicals FLNC Protein
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for FLNC

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

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:0016528	sarcoplasm	IEA	--

FLNC for ontologies About GeneDecksing

FLNC Antibody Products:

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	GenScript Custom Superior Antibodies Services for FLNC
	Novus Biologicals FLNC Antibodies
	Search for Antibodies for FLNC at Abcam
	Uscn Antibodies for FLNC
	Search ThermoFisher Antibodies for FLNC

Assay Products for FLNC:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
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	GenScript Custom Assay Services for FLNC
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	Uscn ELISAs and CLIAs for FLNC

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

FLNC for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR001298 Filamin

IPR014756 Ig_E-set

IPR003961 Fibronectin_type3

IPR013783 Ig-like_fold

IPR001715 CH-domain

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 and mature Z lines

Domain: Comprised of a N-terminal actin-binding domain, 24 internally homologous repeats and two hinge regions. Repeat

24 and the second hinge domain are important for dimer formation

Domain: The filamin 20 repeat mediates interaction with XIRP1

Similarity: Belongs to the filamin family

Similarity: Contains 1 actin-binding domain

Similarity: Contains 2 CH (calponin-homology) domains

Similarity: Contains 24 filamin repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: FLNC_HUMAN, Q14315

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

Genatlas biochemistry entry for FLNC:

filamin C,dimeric actin cross-linking phosphoprotein of the peripheral cytoplasm

miRNA Products:		OriGene 3'-UTR Clone (see all 2): FLNC Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FLNC
		8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate FLNC (see all 15):
		hsa-miR-320a hsa-miR-320d hsa-miR-3675-5p hsa-miR-486-3p hsa-miR-218 hsa-miR-342-3p hsa-miR-650 hsa-miR-3692

		SwitchGear 3'UTR luciferase reporter plasmid: FLNC 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FLNC (see all 4) OriGene shRNA RFP: FLNC OriGene siRNA: FLNC
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FLNC

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for FLNC

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FLNC (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FLNC (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): FLNC (NM_001458)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for FLNC
		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FLNC

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for FLNC
		Search LifeMap BioReagents cell lines for FLNC

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FLNC

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	IEA	--
GO:0005515	protein binding	IPI	17474147
GO:0008092	cytoskeletal protein binding	IPI	17987659
GO:0030506	ankyrin binding	IPI	--

FLNC for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for FLNC:

Decreased focal adhesion (FA)

Animal Models:
Mouse knock-out Flnc^tm1Lmk for FLNC
7 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Flnc):

behavior/neurological	cardiovascular system	growth/size	integument	mortality/aging
muscle	respiratory system

FLNC for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cell-cell junction organization

Cell junction organization

0.69

Cell-Cell communication

0.45

Cytoskeletal Signaling

Cytoskeletal Signaling

1.00

SMAD Signaling Network

SMAD Signaling Network

1.00

Focal Adhesion

Focal adhesion

0.66

PAK Pathway

Antioxidant Action of Vitamin-C

0.56

Pathway sources
See GeneCards unified pathways
Show all pathways

3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for FLNC

	SMAD Signaling Network
	ILK Signaling
	Antioxidant Action of Vitamin-C

1 Cell Signaling Technology (CST) Pathway for FLNC

Cytoskeletal Signaling

3 Reactome Pathways for FLNC

	Cell-extracellular matrix interactions
	Cell junction organization
	Cell-Cell communication

2 Kegg Pathways (Kegg details for FLNC):

	MAPK signaling pathway
	Focal adhesion

FLNC for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for FLNC

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/88 Interacting proteins for FLNC (Q14315^{1, 2, 3} ENSP00000327145⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 88)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ABL1	P00519¹^,²^,³, ENSP00000361423⁴	EBI-489954,EBI-1550796 MINT-8110371 I2D: score=3 STRING: ENSP00000361423
SGCD	Q92629²^,³, ENSP00000338343⁴	MINT-14400 MINT-14402 MINT-14399 MINT-14401 I2D: score=4 STRING: ENSP00000338343
PLCG1	P19174²^,³, ENSP00000244007⁴	MINT-8112567 I2D: score=4 STRING: ENSP00000244007
FYN	P06241²^,³, ENSP00000357656⁴	MINT-8111223 I2D: score=3 STRING: ENSP00000357656
PIK3R1	P27986²^,³, ENSP00000274335⁴	MINT-8111979 I2D: score=3 STRING: ENSP00000274335

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0034329	cell junction assembly	TAS	--
GO:0048747	muscle fiber development	IEA	--

FLNC for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

FLNC for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FLNC
1 Novoseek chemical compound relationship for FLNC gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
calcium	0	1	16297652 (1)

Search CenterWatch for drugs/clinical trials and news about FLNC

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for FLNC gene (2 alternative transcripts):

NM_001127487.1 NM_001458.4

Unigene Cluster for FLNC:

Filamin C, gamma

Hs.58414 [show with all ESTs]

Unigene Representative Sequence: AB371585

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000325888(uc003vnz.4) ENST00000346177(uc003voa.4) ENST00000388853

miRNA Products:		OriGene 3'-UTR Clone (see all 2): FLNC Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FLNC
		8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate FLNC (see all 15):
		hsa-miR-320a hsa-miR-320d hsa-miR-3675-5p hsa-miR-486-3p hsa-miR-218 hsa-miR-342-3p hsa-miR-650 hsa-miR-3692

		SwitchGear 3'UTR luciferase reporter plasmid: FLNC 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FLNC (see all 4) OriGene shRNA RFP: FLNC OriGene siRNA: FLNC
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FLNC

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FLNC (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FLNC (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): FLNC (NM_001458)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for FLNC
		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FLNC

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FLNC Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat FLNC
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FLNC
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FLNC

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):

BX280497 BU196550 BE908373 BQ691430 BQ688140 X70084 BU149938 BP341232

BQ691637 BX499575 AI283250 BE122831 BQ685423 BQ940606 BQ687551 BU150338

AI805005 BQ685840 BQ671042 BU174316 AK126540 BQ889439 BQ688982 BU528273

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for FLNC About this scheme

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:

ECgene alternative splicing isoforms for FLNC

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

FLNC expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGCTCAGCT

About this image

FLNC expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/24 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 24)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Forelimb Dorsal Muscles

Mononuclear Myocytes

Skeletal Muscle

Limb

Forelimb Ventral Muscles

Mononuclear Myocytes

Skeletal Muscle

Limb

Hindlimb Dorsal Muscle

Mononuclear Myocytes

Skeletal Muscle

Limb

Hindlimb Ventral Muscle

Mononuclear Myocytes

Skeletal Muscle

Thoracic Epaxial Myotome

Mononuclear Myocytes

Skeletal Muscle

Somite

Cervical Epaxial Myotome

Mononuclear Myocytes

Skeletal Muscle

Somite

Cervical Hypaxial Myotome

Mononuclear Myocytes

Skeletal Muscle

Somite

Cervical Primary Epaxial Myotome

Mononuclear Myocytes

Skeletal Muscle

Somite

Cervical Primary Hypaxial Myotome

Mononuclear Myocytes

Skeletal Muscle

Somite

Lumbar Epaxial Myotome

Mononuclear Myocytes

Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Epiblast-like cells (Reconstitution of mo...)

See FLNC Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FLNC

SOURCE GeneReport for Unigene cluster: Hs.58414

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

SABiosciences Custom PCR Arrays for FLNC

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FLNC Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat FLNC
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FLNC
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FLNC

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FLNC

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for FLNC gene from 5/24 species (see all 24) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
chicken (Gallus gallus)	Aves	FLNC¹	filamin C, gamma	71.8(n) 72.76(a)	395260 NM_204573.1 NP_989904.1
African clawed frog (Xenopus laevis)	Amphibia	Xl.14402²	Xenopus laevis transcribed sequence with moderate similarity more	75.75(n)	BQ724098.1
zebrafish (Danio rerio)	Actinopterygii	57045176²	--	76.18(n)	57045176
fruit fly (Drosophila melanogaster)	Insecta	jbug³	actin binding	24(a)	59A3 --
worm (Caenorhabditis elegans)	Secernentea	C23F12.2³ Y66H1B.3¹	actin-binding³ hypothetical protein¹	42(a) (best of 2)³ 46.23(n)¹ 38.7(a)¹	X(9432989-9443298)³ 176856¹ NM_067511.2¹ NP_499912.1¹

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for FLNC gene

FLNA² FLNB²

6 SIMAP similar genes for FLNC using alignment to 2 protein entries: FLNC_HUMAN (see all proteins):

DKFZp686A1668 FLJ00119 FLNB FLNA HSpTB1 DMD

FLNC for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for FLNC
PGOHUM00000250909

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs2639140^1,2		--	122859505(+)	`CACCAA/GTTGGA`	2	--	int¹		0	--	--	--	--
rs28549825^1,2		--	122859577(+)	`ATTTGA/GGGGGG`	2	--	int¹		0	--	--	--	--
rs2639141^1,2	C,F,H,,	--	122859584(+)	`GGGGAG/ACCTCA`	2	--	int¹		8		NS NA	892
rs28689813^1,2	C,F,H	--	122859629(+)	`TGGCCG/AAGGGT`	2	--	int¹		10		NS NA	1458
rs3823481^1,2	C,F,	--	127853126(+)	`CTGCTG/ATTCTA`	2	--	us2k¹		9		NA WA CSA EA	370
rs73238147^1,2	C,F,	--	127853662(+)	`TTCATT/CGGCCC`	2	--	us2k¹		6		WA NA CSA EA	364
rs112393766^1,2		--	127853892(+)	`GGGGTG/ATGGAG`	2	--	us2k¹		1		CSA	2
rs62479625^1,2		--	127854121(+)	`CGGCGT/CTCTGA`	2	--	us2k¹		1		NA	2
rs3778755^1,2	C,F,H,	--	127855028(+)	`CCTTAG/CGGTTT`	2	--	int¹		5		EA NS	1314
rs76873749^1,2	F,	--	127855134(+)	`TCGGGA/GGGACA`	2	--	int¹		1		WA	118

HapMap Linkage Disequilibrium report for FLNC (128470431 - 128499328 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 8 variations for FLNC
8 CNVs: 94868 70039 52084 82180 4559 9584 82179 52083
Human Gene Mutation Database (HGMD): FLNC

Locus Specific Mutation Databases (LSDB): FLNC

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FLNC

DNA2.0 Custom Variant and Variant Library Synthesis for FLNC

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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FLNC for disorders           About GeneDecksing

OMIM gene information: 102565
OMIM disorders: 609524
UniProtKB/Swiss-Prot: FLNC_HUMAN, Q14315

Defects in FLNC are the cause of myopathy myofibrillar type 5 (MFM5) [MIM:609524]. A neuromuscular disorder,

usually with an adult onset, characterized by focal myofibrillar destruction and pathological cytoplasmic protein

aggregations, and clinical features of a limb-girdle myopathy

Defects in FLNC are the cause of myopathy distal type 4 (MPD4) [MIM:614065]. MPD4 is 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

20/24 diseases for FLNC (see all 24): About MalaCards

myopathy, myofibrillar, filamin c-related limb-girdle muscular dystrophy cerebrotendinous xanthomatosis allergic bronchopulmonary aspergillosis

muscular dystrophy common cold middle lobe syndrome nemaline myopathy

xanthomatosis myofibrillar myopathy paget's disease of bone myopathy

aspergillosis osteochondrodysplasia was-related disorders bronchiectasis

cystic fibrosis polydactyly gastric cancer fibrosis

6 diseases from the University of Copenhagen DISEASES database for FLNC:

Aspergillosis Bronchiectasis Cystic fibrosis Asthma

Eosinophilia Sinusitis

8 Novoseek disease relationships for FLNC gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lgmd1a	92.4	1	12499399 (1)
muscular dystrophy limb-girdle	83.6	1	10629222 (1)
limb girdle	79.2	1	12499399 (1)
myopathy	75.2	11	15929027 (2), 17337483 (1), 18769253 (1), 19181098 (1) (see all 7)
muscular dystrophies	74.5	2	10629222 (1), 12499399 (1)
cardiomyopathy	19.5	2	20124440 (1)
gastric cancer	0	2	12438262 (1), 15279900 (1)
melanoma	0	5	9006895 (2), 9392863 (1)

GeneTests: FLNC

Myofibrillar Myopathy

Human Genome Epidemiology (HuGE) Navigator: FLNC (5 documents)

Export disorders for FLNC gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for FLNC gene, integrated from 9 sources (see all 128):
(articles sorted by number of sources associating them with FLNC)

Utopia: connect your pdf to the dynamic
world of online information

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)^{1, 2, 3} Maestrini E.... Toniolo D. (1993)
Filamin 2 (FLN2): a muscle-specific sarcoglycan interacting protein. (PubMed id 10629222)^{1, 2, 9} 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, 2, 9} Vorgerd M.... Huebner A. (2005)
The ubiquitin-specific protease USP25 interacts with three sarcomeric proteins. (PubMed id 16501887)^{1, 2, 9} Bosch-Comas A....Marfany G. (2006)
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, 2, 9} 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, 2, 9} van der Ven P.F.M....Fuerst D.O. (2000)
Crystal structure of human filamin C domain 23 and small angle scattering model for filamin C 23-24 dimer. (PubMed id 17379241)^{1, 2, 9} Sjekloca L....Djinovic Carugo K. (2007)
Structural basis for vertebrate filamin dimerization. (PubMed id 15642266)^{1, 2, 9} 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, 2, 9} Frey N. and Olson E.N. (2002)
Identification of silencing of nine genes in human gastric cancers. (PubMed id 12438262)^{1, 2, 9} Kaneda A.... Ushijima T. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2318	HGNC: 3756	AceView: FLNC	Ensembl:ENSG00000128591	euGenes: HUgn2318
ECgene: FLNC	Kegg: 2318	H-InvDB: FLNC

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for FLNC	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FLNC

Intellectual Property for FLNC gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for FLNC gene:
Search GeneIP for patents involving FLNC

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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FLNC Gene

filamin C, gamma

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FLNC (Gene Symbol)
Filamin C, Gamma
ABPL
FLN2
ABP-280
Actin-Binding-Like Protein
FLN-C
ABP-280-Like Protein
ABPA
Filamin C, Gamma (Actin Binding Protein 280)
ABP280A
MFM5
MPD4
ABP-L, Gamma Filamin
Actin Binding Protein 280
Filamin 2
Filamin-2
Filamin-C
ABP-L
FLNc
Filamin-2
Gamma-Filamin

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FLNC Gene

filamin C, gamma

Aliasesfor FLNC gene

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