Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2318
Gene name Gene Name - the full gene name approved by the HGNC.	Filamin C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FLNC
Synonyms (NCBI Gene) Gene synonyms aliases	ABP-280, ABP280A, ABPA, ABPL, ARVC15, CMH26, FLN2, MFM5, MPD4, RCM5
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q32.1
Summary Summary of gene provided in NCBI Entrez 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 cytoskele

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SNP ID	Visualize variation	Clinical significance	Consequence
rs111452612	G>A,C	Likely-pathogenic	Splice donor variant
rs111806457	T>A,G	Likely-pathogenic	Splice donor variant
rs112194548	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs112903432	T>C,G	Likely-pathogenic	Splice donor variant
rs113972676	T>A,C	Likely-pathogenic	Splice donor variant
rs143623535	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs146063718	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs149641783	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs182845462	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs189525930	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199976790	C>A,T	Pathogenic, uncertain-significance	Synonymous variant, coding sequence variant, stop gained
rs200215903	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200237564	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201572079	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201635205	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201839252	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201905890	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs368121231	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs368660628	T>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs369853278	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs370827536	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs371599113	C>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs374135903	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs377258966	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs387906586	T>C	Pathogenic	Missense variant, coding sequence variant
rs387906587	G>A	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs534482249	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs566538377	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs749889670	A>G	Likely-pathogenic	Splice acceptor variant
rs755583250	C>T	Pathogenic	Stop gained, coding sequence variant
rs763330423	AAGT>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs766330686	C>A,G,T	Likely-benign, uncertain-significance, pathogenic	Synonymous variant, coding sequence variant, missense variant, stop gained
rs770606675	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs774945928	A>T	Likely-pathogenic	Splice acceptor variant
rs778781499	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, synonymous variant
rs781135153	G>C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs879255639	C>T	Pathogenic	Coding sequence variant, missense variant
rs886037829	C>G	Pathogenic	Missense variant, coding sequence variant
rs886037830	C>T	Pathogenic	Stop gained, coding sequence variant
rs1064795229	T>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1114167361	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1131692185	GC>CT	Likely-pathogenic	Missense variant, coding sequence variant
rs1346981294	G>A,T	Pathogenic	Splice donor variant
rs1402879259	->ACGTCACA	Pathogenic	Frameshift variant, coding sequence variant
rs1420159591	C>T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant
rs1446694237	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1554397197	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554397464	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554397506	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554398092	GGGGAGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554398674	TTCTCTGCAGGCGACGTGAGCATCGGC>-	Pathogenic	Splice acceptor variant, coding sequence variant, intron variant
rs1554398705	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554399014	C>A	Pathogenic	Coding sequence variant, stop gained
rs1554399513	->TACC	Pathogenic	Coding sequence variant, frameshift variant
rs1554400021	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554400242	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562988883	C>TCT	Pathogenic	Coding sequence variant, frameshift variant
rs1562991002	T>C	Pathogenic	Coding sequence variant, missense variant
rs1562991776	G>A	Likely-pathogenic	Splice donor variant
rs1562995872	TCAAGTACACCG>-	Pathogenic	Coding sequence variant, inframe deletion
rs1562995883	->A	Likely-pathogenic	Coding sequence variant, stop gained
rs1562998062	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1562998858	AAGG>-	Pathogenic	Coding sequence variant, stop gained
rs1562999443	G>A	Pathogenic	Coding sequence variant, missense variant
rs1562999451	A>T	Pathogenic	Coding sequence variant, stop gained
rs1563000044	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs1585151245	GA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1585151331	G>A	Pathogenic	Stop gained, coding sequence variant
rs1585152751	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1585156327	->AAGGGGGATGGCTCCTGCGATGTGC	Pathogenic	Coding sequence variant, frameshift variant
rs1585156450	TG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1585157354	G>A	Likely-pathogenic	Splice donor variant
rs1585163755	C>T	Pathogenic	Stop gained, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT024106	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT039242	hsa-miR-454-3p	CLASH	23622248
MIRT998844	hsa-miR-3675-5p	CLIP-seq
MIRT998845	hsa-miR-486-3p	CLIP-seq
MIRT998846	hsa-miR-1231	CLIP-seq
MIRT998847	hsa-miR-147	CLIP-seq
MIRT998848	hsa-miR-3688-5p	CLIP-seq
MIRT998849	hsa-miR-4455	CLIP-seq
MIRT998850	hsa-miR-599	CLIP-seq
MIRT998851	hsa-miR-609	CLIP-seq
MIRT998852	hsa-miR-644	CLIP-seq
MIRT1556398	hsa-miR-4505	CLIP-seq
MIRT1556398	hsa-miR-4505	CLIP-seq
MIRT998846	hsa-miR-1231	CLIP-seq
MIRT2533844	hsa-miR-1266	CLIP-seq
MIRT998847	hsa-miR-147	CLIP-seq
MIRT2533845	hsa-miR-187	CLIP-seq
MIRT2533846	hsa-miR-1913	CLIP-seq
MIRT2533847	hsa-miR-19a	CLIP-seq
MIRT2533848	hsa-miR-19b	CLIP-seq
MIRT2533849	hsa-miR-210	CLIP-seq
MIRT2533850	hsa-miR-2861	CLIP-seq
MIRT2533851	hsa-miR-3127-5p	CLIP-seq
MIRT2533852	hsa-miR-3135b	CLIP-seq
MIRT2533853	hsa-miR-3150a-3p	CLIP-seq
MIRT2533854	hsa-miR-3158-3p	CLIP-seq
MIRT2533855	hsa-miR-3175	CLIP-seq
MIRT2533856	hsa-miR-3176	CLIP-seq
MIRT2533857	hsa-miR-3178	CLIP-seq
MIRT2533858	hsa-miR-3180	CLIP-seq
MIRT2533859	hsa-miR-3180-3p	CLIP-seq
MIRT2533860	hsa-miR-3194-5p	CLIP-seq
MIRT2533861	hsa-miR-3196	CLIP-seq
MIRT2533862	hsa-miR-320a	CLIP-seq
MIRT2533863	hsa-miR-320b	CLIP-seq
MIRT2533864	hsa-miR-320c	CLIP-seq
MIRT2533865	hsa-miR-320d	CLIP-seq
MIRT2533866	hsa-miR-320e	CLIP-seq
MIRT2533867	hsa-miR-324-3p	CLIP-seq
MIRT2533868	hsa-miR-331-3p	CLIP-seq
MIRT2533869	hsa-miR-342-5p	CLIP-seq
MIRT2533870	hsa-miR-361-3p	CLIP-seq
MIRT2533871	hsa-miR-3652	CLIP-seq
MIRT2533872	hsa-miR-3657	CLIP-seq
MIRT998848	hsa-miR-3688-5p	CLIP-seq
MIRT2533873	hsa-miR-3689d	CLIP-seq
MIRT2533874	hsa-miR-3714	CLIP-seq
MIRT2533875	hsa-miR-3911	CLIP-seq
MIRT2533876	hsa-miR-3918	CLIP-seq
MIRT2533877	hsa-miR-3922-3p	CLIP-seq
MIRT2533878	hsa-miR-412	CLIP-seq
MIRT2533879	hsa-miR-4258	CLIP-seq
MIRT2533880	hsa-miR-4286	CLIP-seq
MIRT2533881	hsa-miR-4292	CLIP-seq
MIRT2533882	hsa-miR-4308	CLIP-seq
MIRT2533883	hsa-miR-4429	CLIP-seq
MIRT2533884	hsa-miR-4430	CLIP-seq
MIRT2533885	hsa-miR-4447	CLIP-seq
MIRT998849	hsa-miR-4455	CLIP-seq
MIRT2533886	hsa-miR-4472	CLIP-seq
MIRT2533887	hsa-miR-4474-3p	CLIP-seq
MIRT2533888	hsa-miR-4488	CLIP-seq
MIRT1556398	hsa-miR-4505	CLIP-seq
MIRT2533889	hsa-miR-4518	CLIP-seq
MIRT2533890	hsa-miR-4651	CLIP-seq
MIRT2533891	hsa-miR-4656	CLIP-seq
MIRT2533892	hsa-miR-4664-5p	CLIP-seq
MIRT2533893	hsa-miR-4669	CLIP-seq
MIRT2533894	hsa-miR-4687-5p	CLIP-seq
MIRT2533895	hsa-miR-4690-3p	CLIP-seq
MIRT2533896	hsa-miR-4691-5p	CLIP-seq
MIRT2533897	hsa-miR-4697-5p	CLIP-seq
MIRT2533898	hsa-miR-4736	CLIP-seq
MIRT2533899	hsa-miR-4757-5p	CLIP-seq
MIRT2533900	hsa-miR-4778-5p	CLIP-seq
MIRT2533901	hsa-miR-485-5p	CLIP-seq
MIRT2533902	hsa-miR-491-5p	CLIP-seq
MIRT2533903	hsa-miR-510	CLIP-seq
MIRT2533904	hsa-miR-581	CLIP-seq
MIRT2533905	hsa-miR-592	CLIP-seq
MIRT998850	hsa-miR-599	CLIP-seq
MIRT2533906	hsa-miR-608	CLIP-seq
MIRT998851	hsa-miR-609	CLIP-seq
MIRT2533907	hsa-miR-624	CLIP-seq
MIRT2533908	hsa-miR-642b	CLIP-seq
MIRT998852	hsa-miR-644	CLIP-seq
MIRT2533909	hsa-miR-670	CLIP-seq
MIRT2533910	hsa-miR-767-3p	CLIP-seq
MIRT2533911	hsa-miR-939	CLIP-seq
MIRT2533912	hsa-miR-940	CLIP-seq
MIRT998846	hsa-miR-1231	CLIP-seq
MIRT2533844	hsa-miR-1266	CLIP-seq
MIRT998847	hsa-miR-147	CLIP-seq
MIRT2533845	hsa-miR-187	CLIP-seq
MIRT2533846	hsa-miR-1913	CLIP-seq
MIRT2533847	hsa-miR-19a	CLIP-seq
MIRT2533848	hsa-miR-19b	CLIP-seq
MIRT2533849	hsa-miR-210	CLIP-seq
MIRT2533850	hsa-miR-2861	CLIP-seq
MIRT2533851	hsa-miR-3127-5p	CLIP-seq
MIRT2533853	hsa-miR-3150a-3p	CLIP-seq
MIRT2533854	hsa-miR-3158-3p	CLIP-seq
MIRT2533855	hsa-miR-3175	CLIP-seq
MIRT2533856	hsa-miR-3176	CLIP-seq
MIRT2533857	hsa-miR-3178	CLIP-seq
MIRT2533858	hsa-miR-3180	CLIP-seq
MIRT2533859	hsa-miR-3180-3p	CLIP-seq
MIRT2533860	hsa-miR-3194-5p	CLIP-seq
MIRT2533861	hsa-miR-3196	CLIP-seq
MIRT2533862	hsa-miR-320a	CLIP-seq
MIRT2533863	hsa-miR-320b	CLIP-seq
MIRT2533864	hsa-miR-320c	CLIP-seq
MIRT2533865	hsa-miR-320d	CLIP-seq
MIRT2533866	hsa-miR-320e	CLIP-seq
MIRT2533867	hsa-miR-324-3p	CLIP-seq
MIRT2533868	hsa-miR-331-3p	CLIP-seq
MIRT2533869	hsa-miR-342-5p	CLIP-seq
MIRT2533870	hsa-miR-361-3p	CLIP-seq
MIRT2533872	hsa-miR-3657	CLIP-seq
MIRT2681041	hsa-miR-3665	CLIP-seq
MIRT998844	hsa-miR-3675-5p	CLIP-seq
MIRT998848	hsa-miR-3688-5p	CLIP-seq
MIRT2533874	hsa-miR-3714	CLIP-seq
MIRT2533876	hsa-miR-3918	CLIP-seq
MIRT2533877	hsa-miR-3922-3p	CLIP-seq
MIRT2681042	hsa-miR-3934	CLIP-seq
MIRT2533878	hsa-miR-412	CLIP-seq
MIRT2533879	hsa-miR-4258	CLIP-seq
MIRT2533880	hsa-miR-4286	CLIP-seq
MIRT2533881	hsa-miR-4292	CLIP-seq
MIRT2681043	hsa-miR-4302	CLIP-seq
MIRT2533882	hsa-miR-4308	CLIP-seq
MIRT2533883	hsa-miR-4429	CLIP-seq
MIRT998849	hsa-miR-4455	CLIP-seq
MIRT1556398	hsa-miR-4505	CLIP-seq
MIRT2533889	hsa-miR-4518	CLIP-seq
MIRT2533890	hsa-miR-4651	CLIP-seq
MIRT2533892	hsa-miR-4664-5p	CLIP-seq
MIRT2533893	hsa-miR-4669	CLIP-seq
MIRT2533894	hsa-miR-4687-5p	CLIP-seq
MIRT2533895	hsa-miR-4690-3p	CLIP-seq
MIRT2533896	hsa-miR-4691-5p	CLIP-seq
MIRT2533898	hsa-miR-4736	CLIP-seq
MIRT2533899	hsa-miR-4757-5p	CLIP-seq
MIRT2533900	hsa-miR-4778-5p	CLIP-seq
MIRT2533901	hsa-miR-485-5p	CLIP-seq
MIRT998845	hsa-miR-486-3p	CLIP-seq
MIRT2533902	hsa-miR-491-5p	CLIP-seq
MIRT2533903	hsa-miR-510	CLIP-seq
MIRT2533904	hsa-miR-581	CLIP-seq
MIRT2533905	hsa-miR-592	CLIP-seq
MIRT998850	hsa-miR-599	CLIP-seq
MIRT2533906	hsa-miR-608	CLIP-seq
MIRT998851	hsa-miR-609	CLIP-seq
MIRT2533907	hsa-miR-624	CLIP-seq
MIRT2533908	hsa-miR-642b	CLIP-seq
MIRT998852	hsa-miR-644	CLIP-seq
MIRT2533909	hsa-miR-670	CLIP-seq
MIRT2533910	hsa-miR-767-3p	CLIP-seq
MIRT2533911	hsa-miR-939	CLIP-seq
MIRT2533912	hsa-miR-940	CLIP-seq

Show/Hide all(24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	11038172, 16076904, 16631741, 17360532, 17474147, 21223964, 22972877, 33961781
GO:0005737	Component	Cytoplasm	IDA	12393796, 25351925
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0008092	Function	Cytoskeletal protein binding	IPI	17987659
GO:0016020	Component	Membrane	IEA
GO:0016528	Component	Sarcoplasm	IEA
GO:0030018	Component	Z disc	IEA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030506	Function	Ankyrin binding	IEA
GO:0030506	Function	Ankyrin binding	IPI	21223964
GO:0042383	Component	Sarcolemma	IDA	21223964
GO:0042383	Component	Sarcolemma	IEA
GO:0042802	Function	Identical protein binding	IPI	15642266
GO:0043034	Component	Costamere	TAS	21223964
GO:0045171	Component	Intercellular bridge	IDA
GO:0045214	Process	Sarcomere organization	IMP	34405687
GO:0051015	Function	Actin filament binding	IEA
GO:0055001	Process	Muscle cell development	IEA

MIM	HGNC	e!Ensembl
102565	3756	ENSG00000128591

Protein

UniProt ID

Q14315

Protein name

Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (ABP-L) (Actin-binding-like protein) (Filamin-2) (Gamma-filamin)

Protein function

Muscle-specific filamin, which plays a central role in sarcomere assembly and organization (PubMed:34405687). Critical for normal myogenesis, it probably functions as a large actin-cross-linking protein with structural functions at the Z lines i

PDB

1V05 , 2D7M , 2D7N , 2D7O , 2D7P , 2D7Q , 2K9U , 2NQC , 3V8O , 4MGX , 7OUU , 7OUV , 7P0E , 8PA0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00307	CH	36 → 143	Calponin homology (CH) domain	Domain
PF00307	CH	159 → 263	Calponin homology (CH) domain	Domain
PF00630	Filamin	272 → 365	Filamin/ABP280 repeat	Domain
PF00630	Filamin	372 → 465	Filamin/ABP280 repeat	Domain
PF00630	Filamin	471 → 562	Filamin/ABP280 repeat	Domain
PF00630	Filamin	568 → 655	Filamin/ABP280 repeat	Domain
PF00630	Filamin	664 → 755	Filamin/ABP280 repeat	Domain
PF00630	Filamin	761 → 858	Filamin/ABP280 repeat	Domain
PF00630	Filamin	864 → 957	Filamin/ABP280 repeat	Domain
PF00630	Filamin	963 → 1053	Filamin/ABP280 repeat	Domain
PF00630	Filamin	1059 → 1146	Filamin/ABP280 repeat	Domain
PF00630	Filamin	1152 → 1241	Filamin/ABP280 repeat	Domain
PF00630	Filamin	1247 → 1341	Filamin/ABP280 repeat	Domain
PF00630	Filamin	1347 → 1434	Filamin/ABP280 repeat	Domain
PF00630	Filamin	1440 → 1530	Filamin/ABP280 repeat	Domain
PF00630	Filamin	1536 → 1627	Filamin/ABP280 repeat	Domain
PF00630	Filamin	1633 → 1731	Filamin/ABP280 repeat	Domain
PF00630	Filamin	1773 → 1851	Filamin/ABP280 repeat	Domain
PF00630	Filamin	1856 → 1943	Filamin/ABP280 repeat	Domain
PF00630	Filamin	2038 → 2125	Filamin/ABP280 repeat	Domain
PF00630	Filamin	2205 → 2303	Filamin/ABP280 repeat	Domain
PF00630	Filamin	2311 → 2398	Filamin/ABP280 repeat	Domain
PF00630	Filamin	2406 → 2493	Filamin/ABP280 repeat	Domain
PF00630	Filamin	2502 → 2589	Filamin/ABP280 repeat	Domain
PF00630	Filamin	2632 → 2721	Filamin/ABP280 repeat	Domain

Tissue specificity

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. {ECO:0000269|PubMed:11038172

Sequence

MMNNSGYSDAGLGLGDETDEMPSTEKDLAEDAPWKKIQQNTFTRWCNEHLKCVGKRLTDL
QRDLSDGLRLIALLEVLSQKRMYRKFHPRPNFRQMKLENVSVALEFLEREHIKLVSIDSK
AIVDGNLKLILGLIWTLILHYSISMPMWEDEDDEDARKQTPKQRLLGWIQNKVPQLPITN
FNRDWQDGKALGALVDNCAPGLCPDWEAWDPNQPVENAREAMQQADDWLGVPQVIAPEEI
VDPNVDEHSVMTYLSQFPKAKLKPGAPVRSKQLNPKKAIAYGPGIEPQGNTVLQPAHFTV
QTVDAGVGEVLVYIEDPEGHTEEAKVVPNNDKDRTYAVSYVPKVAGLHKVTVLFAGQNIE
RSPFEVNVGMALGDANKVSARGPGLEPVGNVANKPTYFDIYTAGAGTGDVAVVIVDPQGR
RDTVEVALEDKGDSTFRCTYRPAMEGPHTVHVAFAGAPITRSPFPVHVSEACNPNACRAS
GRGLQPKGVRVKEVADFKVFTKGAGSGELKVTVKGPKGTEEPVKVREAGDGVFECEYYPV
VPGKYVVTITWGGYAIPRSPFEVQVSPEAGVQKVRAWGPGLETGQVGKSADFVVEAIGTE
VGTLGFSIEGPSQAKIECDDKGDGSCDVRYWPTEPGEYAVHVICDDEDIRDSPFIAHILP
APPDCFPDKVKAFGPGLEPTGCIVDKPAEFTIDARAAGKGDLKLYAQDADGCPIDIKVIP
NGDGTFRCSYVPTKPIKHTIIISWGGVNVPKSPFRVNVGEGSHPERVKVYGPGVEKTGLK
ANEPTYFTVDCSEAGQGDVSIGIKCAPGVVGPAEADIDFDIIKNDNDTFTVKYTPPGAGR
YTIMVLFANQEIPASPFHIKVDPSHDASKVKAEGPGLNRTGVEVGKPTHFTVLTKGAGKA
KLDVQFAGTAKGEVVRDFEIIDNHDYSYTVKYTAVQQGNMAVTVTYGGDPVPKSPFVVNV
APPLDLSKIKVQGLNSKVAVGQEQAFSVNTRGAGGQGQLDVRMTSPSRRPIPCKLEPGGG
AEAQAVRYMPPEEGPYKVDITYDGHPVPGSPFAVEGVLPPDPSKVCAYGPGLKGGLVGTP
APFSIDTKGAGTGGLGLTVEGPCEAKIECQDNGDGSCAVSYLPTEPGEYTINILFAEAHI
PGSPFKATIRPVFDPSKVRASGPGLERGKVGEAATFTVDCSEAGEAELTIEILSDAGVKA
EVLIHNNADGTYHITYSPAFPGTYTITIKYGGHPVPKFPTRVHVQPAVDTSGVKVSGPGV
EPHGVLREVTTEFTVDARSLTATGGNHVTARVLNPSGAKTDTYVTDNGDGTYRVQYTAYE
EGVHLVEVLYDEVAVPKSPFRVGVTEGCDPTRVRAFGPGLEGGLVNKANRFTVETRGAGT
GGLGLAIEGPSEAKMSCKDNKDGSCTVEYIPFTPGDYDVNITFGGRPIPGSPFRVPVKDV
VDPGKVKCSGPGLGAGVRARVPQTFTVDCSQAGRAPLQVAVLGPTGVAEPVEVRDNGDGT
HTVHYTPATDGPYTVAVKYADQEVPRSPFKIKVLPAHDASKVRASGPGLNASGIPASLPV
EFTIDARDAGEGLLTVQILDPEGKPKKANIRDNGDGTYTVSYLPDMSGRYTITIKYGGDE
IPYSPFRIHALPTGDASKCLVTVSIGGHGLGACLGPRIQIGQETVITVDAKAAGEGKVTC
TVSTPDGAELDVDVVENHDGTFDIYYTAPEPGKYVITIRFGGEHIPNSPFHVLACDPLPH
EEEPSEVPQLRQPYAPPRPGARPTHWATEEPVVPVEPMESMLRPFNLVIPFAVQKGELTG
EVRMPSGKTARPNITDNKDGTITVRYAPTEKGLHQMGIKYDGNHIPGSPLQFYVDAINSR
HVSAYGPGLSHGMVNKPATFTIVTKDAGEGGLSLAVEGPSKAEITCKDNKDGTCTVSYLP
TAPGDYSIIVRFDDKHIPGSPFTAKITGDDSMRTSQLNVGTSTDVSLKITESDLSQLTAS
IRAPSGNEEPCLLKRLPNRHIGISFTPKEVGEHVVSVRKSGKHVTNSPFKILVGPSEIGD
ASKVRVWGKGLSEGHTFQVAEFIVDTRNAGYGGLGLSIEGPSKVDINCEDMEDGTCKVTY
CPTEPGTYIINIKFADKHVPGSPFTVKVTGEGRMKESITRRRQAPSIATIGSTCDLNLKI
PGNWFQMVSAQERLTRTFTRSSHTYTRTERTEISKTRGGETKREVRVEESTQVGGDPFPA
VFGDFLGRERLGSFGSITRQQEGEASSQDMTAQVTSPSGKVEAAEIVEGEDSAYSVRFVP
QEMGPHTVAVKYRGQHVPGSPFQFTVGPLGEGGAHKVRAGGTGLERGVAGVPAEFSIWTR
EAGAGGLSIAVEGPSKAEIAFEDRKDGSCGVSYVVQEPGDYEVSIKFNDEHIPDSPFVVP
VASLSDDARRLTVTSLQETGLKVNQPASFAVQLNGARGVIDARVHTPSGAVEECYVSELD
SDKHTIRFIPHENGVHSIDVKFNGAHIPGSPFKIRVGEQSQAGDPGLVSAYGPGLEGGTT
GVSSEFIVNTLNAGSGALSVTIDGPSKVQLDCRECPEGHVVTYTPMAPGNYLIAIKYGGP
QHIVGSPFKAKVTGPRLSGGHSLHETSTVLVETVTKSSSSRGSSYSSIPKFSSDASKVVT
RGPGLSQAFVGQKNSFTVDCSKAGTNMMMVGVHGPKTPCEEVYVKHMGNRVYNVTYTVKE
KGDYILIVKWGDESVPGSPFKVKVP

Sequence length

2725

Interactions

View interactions

	KEGG		Reactome
	Cytoskeleton in muscle cells		Cell-extracellular matrix interactions

Show/Hide Causal Diseases (8)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
cardiomyopathy	Cardiomyopathy	rs1420159591, rs1554398705, rs111806457, rs748416758, rs879255639	N/A
Cardiomyopathy	Primary dilated cardiomyopathy, Primary familial dilated cardiomyopathy	rs766330686, rs1563000044, rs1585169831, rs1402879259, rs1585171818	N/A
CARDIOMYOPATHY	cardiomyopathy, familial restrictive, 5	rs879255639	N/A
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	distal myopathy with posterior leg and anterior hand involvement	rs387906586, rs387906587	N/A
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy 26	rs781135153, rs1554401581, rs1342121466, rs1114167361, rs1131692185, rs1563001548, rs138193236, rs1562998062, rs1562999443, rs1563003848, rs1562991002, rs1420394583, rs879255639, rs1420159591	N/A
Myofibrillar myopathy	Myofibrillar myopathy 5	rs1585173340, rs121909518, rs1114167361	N/A
Restrictive cardiomyopathy	restrictive cardiomyopathy	rs1563005534, rs1420394583	N/A
Dilated Cardiomyopathy	Dilated Cardiomyopathy, Dominant	rs1554399014	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Arrhythmogenic right ventricular cardiomyopathy	Arrhythmogenic right ventricular dysplasia, familial, 15	N/A	N/A	ClinVar
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White pattern	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (88)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	40179422
Aortic Aneurysm Abdominal	Associate	22226179
Aortic Valve Stenosis	Associate	20124440
Apical Hypertrophic Cardiomyopathy	Associate	30411535
Arrhythmias Cardiac	Associate	27908349, 30067491, 31627847, 31924696, 32532510, 33455984, 33978673, 34601126, 37164047
Arrhythmogenic Right Ventricular Dysplasia	Associate	30067491, 31627847, 31843279, 31924696, 32532510, 34587765, 34601126, 34634758, 36136372, 37032351, 37164047, 39180012
Arrhythmogenic Right Ventricular Dysplasia	Stimulate	38404225
Arthrogryposis	Associate	36104822
Bohring syndrome	Associate	37461109
Breast Neoplasms	Associate	22595522, 25577646
Calcinosis Cutis	Associate	33934493
Camptocormia	Associate	34526477
Carcinoma Hepatocellular	Stimulate	27626164
Carcinoma Lobular	Associate	27811364
Carcinoma Non Small Cell Lung	Associate	33934493, 36056349
Carcinoma Squamous Cell	Associate	40179422
Cardiomyopathies	Associate	20124440, 27908349, 29030401, 31627847, 32532510, 33455984, 33874732, 34526477, 34587765, 34601126, 35544052, 36104822, 36560844, 36921598, 37164047 View all (4 more)
Cardiomyopathy Dilated	Associate	20124440, 27908349, 28296976, 30067491, 30354339, 31627847, 31924696, 32532510, 33455984, 33874732, 33941202, 33978673, 34088019, 34601126, 34634758 View all (7 more)
Cardiomyopathy Hypertrophic	Associate	27908349, 29030401, 33455984, 38002985
Cardiomyopathy Restrictive	Associate	27908349, 29212899, 30067491, 30953456, 36104822, 36560844, 36921598, 39472949
Cardiomyopathy Right Ventricular Dilated	Associate	27908349, 30067491
Cardiovascular Diseases	Associate	39472949
Cerebellar Ataxia	Associate	22806379
Cerebellar Diseases	Associate	22806379
Congenital idiopathic intestinal pseudoobstruction	Associate	17357080
Death	Associate	31627847
Death Sudden	Associate	27908349, 31627847, 33455984
Death Sudden Cardiac	Associate	27908349, 30067491, 30354339, 30411535, 31924696, 33302605, 34526477, 34601126, 39180012, 39472949
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	32532510
Disease	Associate	31924696
Distal Myopathies	Associate	21620354, 22961544, 29073160, 31421687
Dyslexia Acquired	Associate	28866788
Dyspnea	Associate	33199334
Esophageal Squamous Cell Carcinoma	Associate	28031525
familial dilated cardiomyopathy	Associate	28296976, 33941202
Fibrosis	Associate	27908349, 30067491
Filaminopathy autosomal dominant	Associate	22806379, 22961544, 23115302, 36104822, 37748332
Frontometaphyseal dysplasia	Associate	28348077, 28652603
Genetic Diseases Inborn	Associate	27908349
Glioblastoma	Associate	30867563, 39946771
Glioma	Associate	24946857, 34404444
Hearing Loss	Associate	25208129
Hearing Loss Bilateral	Associate	26956990
Heart Diseases	Associate	27908349, 30354339, 39472949
Heart Failure	Associate	20124440, 30354339
Helicobacter Infections	Associate	26550574
HEM dysplasia	Associate	22595522, 28652603
Hypoxia	Associate	26956495
Inclusion Body Myopathy 3 Autosomal Dominant	Associate	34526477
Intestinal Diseases	Associate	22595522
Intestinal Pseudo Obstruction	Associate	17357080
Kidney Failure Chronic	Associate	33978673
Larsen Syndrome	Associate	16801345, 28652603
Leukemia	Associate	25577646
Long QT Syndrome	Associate	26956495
Lymphatic Metastasis	Associate	28031525
Lymphoma B Cell Marginal Zone	Associate	24349473
Malformations of Cortical Development Group II	Associate	22595522
Melanoma	Associate	11050075, 11278410, 9006936
Motor Neuron Disease	Associate	31421687
Muscle Neoplasms	Associate	33199334
Muscle Weakness	Associate	22961544, 29866061, 37174721
Muscular Diseases	Associate	22961544, 29866061, 30067491, 33199334, 34526477, 36104822, 37163662, 37174721
Muscular Dystrophies	Associate	23155419, 29073160
Muscular Dystrophies Limb Girdle	Associate	15929027, 23155419
Muscular Dystrophy Congenital Megaconial Type	Associate	29866061
Myofibrillar Myopathy	Associate	15929027, 19050726, 21620354, 21676617, 22106715, 22806379, 22961544, 23115302, 23238331, 25208129, 27618136, 27908349, 29866061, 31421687, 37174721, 37748332, 39973468 View all (2 more)
Myopathies Structural Congenital	Associate	37174721
Myopathy Myofibrillar Zasp Related	Associate	19050726, 31421687
Myotonia Congenita	Associate	36104822
Neoplasm Metastasis	Inhibit	25577646
Neoplasm Metastasis	Associate	27626164, 36056349
Neoplasms	Associate	16475210, 24946857, 25577646, 34404444
Neoplasms	Stimulate	27626164
Neuralgia	Associate	31421687
Neurologic Manifestations	Associate	37163662
Osteoporosis	Associate	35757478
Ovarian Neoplasms	Associate	22249249
Periventricular Nodular Heterotopia	Associate	26956990
Polyneuropathies	Associate	25208129
Prostatic Hyperplasia	Associate	37781794
Prostatic Neoplasms	Associate	19229700, 25577646, 37781794
Stomach Neoplasms	Associate	25577646, 26550574
Systemic carnitine deficiency	Associate	36104822
Tachycardia Ventricular	Associate	31627847
Ventricular Dysfunction	Associate	37164047
Ventricular Dysfunction Left	Associate	33978673, 34601126
Ventricular Premature Complexes	Associate	31627847

FLNC (filamin C)