FLNC

Summary

FLNC (filamin C, HGNC:3756) is a protein-coding gene on chromosome 7q32.1, encoding Filamin-C (Q14315). Muscle-specific filamin, which plays a central role in sarcomere assembly and organization. It is haploinsufficient (ClinGen: sufficient evidence).

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. Mutations in this gene are a cause of cardiopathy. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 2318 — RefSeq curated summary.

At a glance

• Gene–disease (curated): myofibrillar myopathy (Definitive, ClinGen) — +6 more curated relationships
• GWAS associations: 5
• Clinical variants (ClinVar): 5,378 total — 358 pathogenic, 143 likely-pathogenic
• Phenotypes (HPO): 89
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_001458

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3756
Approved symbol	FLNC
Name	filamin C
Location	7q32.1
Locus type	gene with protein product
Status	Approved
Aliases	ABP-280, ABPL
Ensembl gene	ENSG00000128591
Ensembl biotype	protein_coding
OMIM	102565
Entrez	2318

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 6 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron

ENST00000325888, ENST00000346177, ENST00000388853, ENST00000714183, ENST00000714184, ENST00000714185, ENST00000714186, ENST00000950262, ENST00000950263

RefSeq mRNA: 2 — MANE Select: NM_001458 NM_001127487, NM_001458

CCDS: CCDS43644, CCDS47705

Canonical transcript exons

ENST00000325888 — 48 exons

Exon	Start	End
ENSE00000364964	128843796	128843913
ENSE00000364966	128844658	128845255
ENSE00000721742	128849976	128850074
ENSE00000882121	128837398	128837548
ENSE00000882123	128837987	128838064
ENSE00000882124	128838267	128838429
ENSE00000882132	128841454	128841567
ENSE00000882136	128843229	128843319
ENSE00000882147	128848793	128848982
ENSE00000882153	128850384	128850483
ENSE00000882170	128856518	128856650
ENSE00001131697	128857118	128857336
ENSE00001131700	128856745	128856921
ENSE00001131724	128854413	128854682
ENSE00001131730	128853974	128854216
ENSE00001131736	128853715	128853837
ENSE00001131743	128853469	128853621
ENSE00001131750	128852828	128853031
ENSE00001131757	128852591	128852752
ENSE00001131762	128851455	128851628
ENSE00001207785	128849331	128849578
ENSE00001207789	128849181	128849204
ENSE00001207800	128847945	128848068
ENSE00001207805	128847697	128847864
ENSE00001207809	128846745	128846905
ENSE00001207814	128846301	128846463
ENSE00001207821	128845990	128846163
ENSE00001207833	128844004	128844266
ENSE00001207844	128843408	128843577
ENSE00001207874	128841170	128841363
ENSE00001207880	128840834	128840970
ENSE00001207885	128840548	128840674
ENSE00001207896	128838603	128838803
ENSE00001207907	128837637	128837755
ENSE00001267489	128848561	128848717
ENSE00001267696	128837160	128837257
ENSE00001372648	128840023	128840160
ENSE00001504137	128858336	128859272
ENSE00001504139	128851232	128851360
ENSE00001504140	128850803	128850943
ENSE00001504141	128830406	128830989
ENSE00001691474	128835326	128835574
ENSE00001722751	128842794	128842954
ENSE00001775310	128855199	128855314
ENSE00001775548	128854775	128854912
ENSE00002474613	128858008	128858217
ENSE00003549529	128842575	128842698
ENSE00003586734	128842231	128842374

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 99.58.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 110.2300 / max 10520.1466, expressed in 1318 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
80971	100.0516	1296
80970	8.1756	1209
80969	1.2581	712
80972	0.6391	392
80975	0.1055	26

Top tissues by expression

287 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
gastrocnemius	UBERON:0001388	99.58	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.45	gold quality
tibialis anterior	UBERON:0001385	99.33	gold quality
apex of heart	UBERON:0002098	99.29	gold quality
gluteal muscle	UBERON:0002000	99.19	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	98.99	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	98.91	gold quality
skeletal muscle tissue	UBERON:0001134	98.87	gold quality
vastus lateralis	UBERON:0001379	98.86	gold quality
heart left ventricle	UBERON:0002084	98.86	gold quality
quadriceps femoris	UBERON:0001377	98.85	gold quality
cardiac ventricle	UBERON:0002082	98.82	gold quality
biceps brachii	UBERON:0001507	98.73	gold quality
muscle organ	UBERON:0001630	98.54	gold quality
muscle of leg	UBERON:0001383	98.43	gold quality
triceps brachii	UBERON:0001509	98.30	gold quality
heart right ventricle	UBERON:0002080	98.14	gold quality
deltoid	UBERON:0001476	97.99	gold quality
lower esophagus muscularis layer	UBERON:0035833	97.92	gold quality
right atrium auricular region	UBERON:0006631	97.86	gold quality
lower esophagus	UBERON:0013473	97.85	gold quality
cardiac atrium	UBERON:0002081	97.37	gold quality
diaphragm	UBERON:0001103	97.36	gold quality
heart	UBERON:0000948	97.31	gold quality
muscle tissue	UBERON:0002385	97.22	gold quality
saphenous vein	UBERON:0007318	97.11	gold quality
muscle layer of sigmoid colon	UBERON:0035805	97.10	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	96.96	gold quality
stromal cell of endometrium	CL:0002255	96.78	gold quality
body of tongue	UBERON:0011876	96.75	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.59
E-CURD-53	no	453.16
E-MTAB-7249	no	77.62

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

33 targeting FLNC, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-3934-5P	99.67	64.04	846
HSA-MIR-142-3P	99.62	71.30	974
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-942-5P	99.41	68.40	1977
HSA-MIR-6797-3P	99.17	66.94	668
HSA-MIR-6846-5P	98.81	65.86	1121
HSA-MIR-6848-5P	98.81	65.49	1126
HSA-MIR-6076	98.61	65.69	637
HSA-MIR-147A	98.33	66.40	795
HSA-MIR-891A-3P	98.05	67.99	970
HSA-MIR-4736	97.96	65.89	1287
HSA-MIR-3691-3P	97.90	65.97	791
HSA-MIR-3665	97.73	65.08	975
HSA-MIR-1972	97.67	67.38	1172
HSA-MIR-558	97.50	67.16	977
HSA-MIR-6802-3P	97.29	65.42	613
HSA-MIR-644A	96.02	66.52	786

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• Accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle myopathies. (PMID:12480088)
• calpain 3 can cleave filamin C (FLNC); FLNC may be substrate for calpain 3, regulating protein-protein interactions with sarcoglycans (PMID:14506720)
• gamma filamin has one molecule, with predominantly beta secondary-structure elements, per asymmetric unit (PMID:15159586)
• results identify the muscle-specific isoform FLNc as a new physiological substrate for PKB (PMID:15461588)
• a mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy (PMID:15929027)
• These observations start to define the basis for PI3K regulation of filamin through LL5beta. (PMID:17174070)
• The crystal structure of domain 23 of filamin C showed that the protein adopts the expected immunoglobulin (Ig)-like fold. A dimer is formed by domain 24; domain 23 has little interactions with itself or with domain 24. (PMID:17379241)
• The mutant dimerization domain of filamin C is less stable and more susceptible to proteolysis. As a consequence, it does not dimerize properly and forms aggregates in vitro. (PMID:17412757)
• Taken together, our data suggest that p73alpha is sequestered in the cytoplasm by filamin A, thereby inhibiting its transcriptional activity. (PMID:17825253)
• filamin-C, a known component of striated muscle Z-lines, interacts with nebulette modules (PMID:17987659)
• Results suggest that the novel p.Val930_Thr933del mutation in filamin C is the cause of MFM but also indicate that filamin C mutations are a comparatively rare cause of MFM. (PMID:19050726)
• Data show that in myofibrillar myopathies filamin C exhibites significant alterations in their localization. (PMID:19151983)
• A large number of variations were found in many of the genes (myozenin 1, gamma-filamin, kinectin-1) in patients with limb-girdle muscular dystrophies and controls. (PMID:19472918)
• We present a Chinese family with filaminopathy with progressive muscle weakness in all limbs with a deletion-insertion mutation in exon 18 of the filamin C (PMID:20417099)
• filamin C ABD mutations cause a recognizable distal myopathy, most likely through increased actin affinity, similar to the pathological mechanism of filamin A and filamin B ABD mutations. (PMID:21620354)
• We conclude that filamin C is a dosage-sensitive gene and that FLNC haploinsufficiency can cause a specific type of myopathy in humans. (PMID:22131542)
• study indicates that filamins are important regulators of polycystin-2 channel function, and further links actin cytoskeletal dynamics to the regulation of this channel protein (PMID:22802962)
• FLNC/filamin C mutations cause protein degradation in myofibrillar myopathy (PMID:23238331)
• Increased methylation levels of FLNC is associated with highly active Helicobacter pylori-related gastritis. (PMID:23292007)
• these studies extend previous findings to show that functional rescue of alpha2C-ARs is mediated through Rap1-filamin signaling. Perturbation of this signaling pathway may lead to alterations in alpha2C-AR trafficking and physiological function. (PMID:23864608)
• By integrating our WES and CN data we identified three mutated putative candidate genes targeted by 7q deletions (CUL1, EZH2 and FLNC), with FLNC positioned within the well-characterized 7q minimally deleted region. (PMID:24349473)
• Crystal Structures of FLNa Domains 3-5 and FLNc Domains 4-5 Show a Novel Domain-Domain Organization. (PMID:24469451)
• Aciculin interacts with filamin C and Xin and is essential for myofibril assembly. (PMID:24963132)
• alpha2C-adrenoreceptor interaction with filamin-2 (PMID:25110951)
• Mutations in the gene encoding the sarcomeric protein filamin C cause a new form of familial hypertrophic cardiomyopathy. (PMID:25351925)
• Findings indicate a functional role of filamin C in cancers. (PMID:25577646)
• FLNC is a disease gene for autosomal-dominant Restrictive Cardiomyopathy and broadens the phenotype spectrum of filaminopathies. (PMID:26666891)
• The identification of Filamin C as a novel KCNE2 ligand not only enhances current understanding of ion channel function and regulation, but also provides valuable information about possible pathways likely to be involved in long-QT syndrome pathogenesis (PMID:26956495)
• This study therefore identifies both BAG3 reduction and autophagy promotion as potential therapies for FLNC(W2710X) myofibrillar myopathy, and identifies protein insufficiency due to sequestration, compounded by impaired autophagy, as the cause. (PMID:26969713)
• Mutation in FLNC was identified as Restrictive Cardiomyopathy - causing mutation. (PMID:27339502)
• Biallelic variants in FLNC can cause congenital dilated cardiomyopathy. (PMID:27601210)
• Data show that the filamin C (FLNC) protein was significantly overexpressed with the development of hepatocellular carcinoma (HCC), which might play an important role in HCC invasion and metastasis. (PMID:27626164)
• Truncating mutations in FLNC caused an overlapping phenotype of dilated and left-dominant arrhythmogenic cardiomyopathies complicated by frequent premature sudden death (PMID:27908349)
• Filamin C promotes lymphatic invasion and lymphatic metastasis and increases cell motility by regulating Rac1/cdc42 activites in esophageal squamous cell carcinoma. (PMID:28031525)
• a compelling evidence of the involvement of FLNC in the development of Hypertrophic Cardiomyopathy . Most of the FLNC variants were associated with mild forms ofHypertrophic Cardiomyopathy and a reduced penetrance (PMID:28356264)
• The study confirms that truncating variants on myofibrillar myopathies- causing genes are frequently associated with dilated cardiomyopathies and also suggest that FLNC mutations could be considered as a common cause of dilated cardiomyopathy. (PMID:28436997)
• Missense variant in FLNC gene is associated with reading disability. (PMID:28866788)
• suggest that the combination of the OBSCN p.Arg4444Trp variant and of the FLNC c.5161delG mutation, can cooperatively affect myofibril stability and increase the penetrance of muscular dystrophy in the French family (PMID:29073160)
• a novel variant in FLNC was identified as pathogenic variant for familial Restrictive cardiomyopathy. (PMID:29212899)
• Study found a novel splice-site mutation in FLNC gene (c.2389+1G>A) which co-segregated with all symptomatic individuals in the family with dilated cardiomyopathy (DCM). These results strongly suggest that the involvement of FLNC gene, due to haploinsufficiency, should be considered in familial cases with DCM, especially if accompanied with arrhythmia and increased incidence of sudden cardiac death. (PMID:29551499)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	flnca	ENSDARG00000018566
danio_rerio	flncb	ENSDARG00000018820
mus_musculus	Flnc	ENSMUSG00000068699
rattus_norvegicus	Flnc	ENSRNOG00000007281

Paralogs (36): SYNE2 (ENSG00000054654), SPTB (ENSG00000070182), ACTN1 (ENSG00000072110), ACTN2 (ENSG00000077522), DSP (ENSG00000096696), DRP2 (ENSG00000102385), SPTBN1 (ENSG00000115306), MACF1 (ENSG00000127603), ACTN4 (ENSG00000130402), SYNE1 (ENSG00000131018), MICAL2 (ENSG00000133816), DTNA (ENSG00000134769), MICAL1 (ENSG00000135596), FLNB (ENSG00000136068), SPTBN5 (ENSG00000137877), DTNB (ENSG00000138101), GAS2L3 (ENSG00000139354), DST (ENSG00000151914), UTRN (ENSG00000152818), SPTBN4 (ENSG00000160460), SPTA1 (ENSG00000163554), CLMN (ENSG00000165959), PKHD1 (ENSG00000170927), SPTBN2 (ENSG00000173898), SYNE3 (ENSG00000176438), PLEC (ENSG00000178209), SMTNL2 (ENSG00000188176), FLNA (ENSG00000196924), SPTAN1 (ENSG00000197694), DMD (ENSG00000198947), PKHD1L1 (ENSG00000205038), DYTN (ENSG00000232125), MICAL3 (ENSG00000243156), ACTN3 (ENSG00000248746), EPPK1 (ENSG00000261150), GAS2L2 (ENSG00000270765)

Protein

Protein identifiers

Filamin-C — Q14315 (reviewed: Q14315)

Alternative names: ABP-280-like protein, ABP-L, Actin-binding-like protein, Filamin-2, Gamma-filamin

All UniProt accessions (5): Q14315, A0AAQ5BHJ9, A0AAQ5BHM3, A0AAQ5BHM5, A0AAQ5BHR4

UniProt curated annotations — full annotation on UniProt →

Function. Muscle-specific filamin, which plays a central role in sarcomere assembly and organization. Critical for normal myogenesis, it probably functions as a large actin-cross-linking protein with structural functions at the Z lines in muscle cells. May be involved in reorganizing the actin cytoskeleton in response to signaling events.

Subunit / interactions. 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. Interacts with MICALL2. Interacts with ANK3. Interacts with SYNPO2. Interacts (via repeats 18 to 21) with PGM5 (via N-terminus); the interaction competes with XIRP1 isoform B (XinB) binding to PGM5.

Subcellular location. Cytoplasm. Membrane. Cytoskeleton. Myofibril. Sarcomere. Z line.

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.

Post-translational modifications. Ubiquitinated by FBXL22, leading to proteasomal degradation.

Disease relevance. 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 disk 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. The disease is caused by variants 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. The disease is caused by variants affecting the gene represented in this entry. Cardiomyopathy, familial hypertrophic, 26 (CMH26) [MIM:617047] A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. The disease is caused by variants affecting the gene represented in this entry. Cardiomyopathy, familial restrictive 5 (RCM5) [MIM:617047] A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. The disease is caused by variants affecting the gene represented in this entry.

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

Similarity. Belongs to the filamin family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q14315-1	1	yes
Q14315-2	2

RefSeq proteins (2): NP_001120959, NP_001449* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001298	Filamin/ABP280_rpt	Repeat
IPR001589	Actinin_actin-bd_CS	Conserved_site
IPR001715	CH_dom	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR014756	Ig_E-set	Homologous_superfamily
IPR017868	Filamin/ABP280_rpt-like	Repeat
IPR036872	CH_dom_sf	Homologous_superfamily
IPR044801	Filamin	Family

Pfam: PF00307, PF00630

UniProt features (201 total): strand 83, repeat 24, sequence conflict 24, sequence variant 20, modified residue 15, helix 13, region of interest 10, turn 5, domain 2, mutagenesis site 2, chain 1, compositionally biased region 1, splice variant 1

Structure

Experimental structures (PDB)

14 structures.

PDB	Method	Resolution (Å)
1V05	X-RAY DIFFRACTION	1.43
7OUU	X-RAY DIFFRACTION	1.47
7P0E	X-RAY DIFFRACTION	1.6
7OUV	X-RAY DIFFRACTION	1.8
2NQC	X-RAY DIFFRACTION	2.05
3V8O	X-RAY DIFFRACTION	2.8
8PA0	X-RAY DIFFRACTION	2.85
4MGX	X-RAY DIFFRACTION	3.16
2D7M	SOLUTION NMR
2D7N	SOLUTION NMR
2D7O	SOLUTION NMR
2D7P	SOLUTION NMR
2D7Q	SOLUTION NMR
2K9U	SOLUTION NMR

Predicted structure (AlphaFold)

No AlphaFold model available for Q14315 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (15): 5, 1002, 1161, 1338, 2042, 2233, 2236, 2238, 2586, 2617, 2620, 2623, 2632, 2714, 2718

Mutagenesis-validated functional residues (2):

Position	Phenotype
1668–1674	no effect on sarcomere structure or contractile performance in mutant induced pluripotent stem cell-derived cardiomyocyt
2669	abolishes dimerization.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-446353	Cell-extracellular matrix interactions

MSigDB gene sets: 350 (showing top): WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, KEGG_MAPK_SIGNALING_PATHWAY, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_SARCOMERE_ORGANIZATION, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, HANN_RESISTANCE_TO_BCL2_INHIBITOR_UP, SRF_Q5_01, CHEN_LVAD_SUPPORT_OF_FAILING_HEART_UP, OSWALD_HEMATOPOIETIC_STEM_CELL_IN_COLLAGEN_GEL_UP, ONKEN_UVEAL_MELANOMA_UP, GOBP_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_DN

GO Biological Process (3): sarcomere organization (GO:0045214), actin cytoskeleton organization (GO:0030036), muscle cell development (GO:0055001)

GO Molecular Function (6): cytoskeletal protein binding (GO:0008092), ankyrin binding (GO:0030506), identical protein binding (GO:0042802), actin filament binding (GO:0051015), actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (11): cytoplasm (GO:0005737), cytosol (GO:0005829), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), focal adhesion (GO:0005925), sarcoplasm (GO:0016528), Z disc (GO:0030018), sarcolemma (GO:0042383), costamere (GO:0043034), intercellular bridge (GO:0045171), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Cell junction organization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
protein binding	2
cytoskeletal protein binding	2
cytoplasm	2
myofibril assembly	1
actomyosin structure organization	1
cytoskeleton organization	1
actin filament-based process	1
muscle cell differentiation	1
cell development	1
actin binding	1
protein-containing complex binding	1
binding	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
membrane	1
cell periphery	1
cell-substrate junction	1
I band	1
plasma membrane	1
myofibril	1

Protein interactions and networks

STRING

2702 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FLNC	MYOT	Q9UBF9	998
FLNC	TLN1	Q9Y490	996
FLNC	TLN2	Q9Y4G6	996
FLNC	VCL	P18206	994
FLNC	FBLIM1	Q8WUP2	990
FLNC	PXN	P49023	981
FLNC	SGCD	Q92629	946
FLNC	MYOZ1	Q9NP98	945
FLNC	LDB3	O75112	916
FLNC	BAG3	O95817	914
FLNC	SGCG	Q13326	893
FLNC	TCAP	O15273	875
FLNC	CAV1	Q03135	860
FLNC	DMD	P11532	856
FLNC	MYOZ2	Q9NPC6	835

IntAct

176 interactions, top by confidence:

A	B	Type	Score
KCTD13	CUL3	psi-mi:“MI:0914”(association)	0.870
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
FRYL	YWHAZ	psi-mi:“MI:0914”(association)	0.710
TANC2	TAX1BP3	psi-mi:“MI:0914”(association)	0.690
NUAK2	PPP1R12A	psi-mi:“MI:0914”(association)	0.640
FLNC	SGCD	psi-mi:“MI:0915”(physical association)	0.590
FLNC	SGCG	psi-mi:“MI:0915”(physical association)	0.590
SGCG	FLNC	psi-mi:“MI:0407”(direct interaction)	0.590
FLNC	SGCD	psi-mi:“MI:0407”(direct interaction)	0.590
SGCD	FLNC	psi-mi:“MI:0915”(physical association)	0.590
MYOT	FLNC	psi-mi:“MI:0915”(physical association)	0.580
FLNC	MYOT	psi-mi:“MI:0915”(physical association)	0.580
XIRP1	FLNC	psi-mi:“MI:0915”(physical association)	0.560
XIRP1	FLNC	psi-mi:“MI:0407”(direct interaction)	0.560
XIRP1	FLNC	psi-mi:“MI:0403”(colocalization)	0.560
FLNC	XIRP1	psi-mi:“MI:0915”(physical association)	0.560
TUBB3	POTEF	psi-mi:“MI:0914”(association)	0.530
PLEKHO1	UBA6	psi-mi:“MI:0914”(association)	0.530
RAB8B	BLTP3B	psi-mi:“MI:0914”(association)	0.530
NT5C	RAP1GDS1	psi-mi:“MI:0914”(association)	0.530

BioGRID (296): FLNC (Two-hybrid), FLNC (Two-hybrid), FLNC (Two-hybrid), FLNC (Affinity Capture-MS), FLNC (Affinity Capture-MS), FLNC (Affinity Capture-MS), FLNC (Affinity Capture-MS), FLNC (Affinity Capture-MS), FLNC (Affinity Capture-MS), FLNC (Affinity Capture-MS), FLNC (Affinity Capture-MS), FLNC (Affinity Capture-MS), FLNC (Affinity Capture-MS), FLNC (Affinity Capture-MS), FLNC (Affinity Capture-MS)

ESM2 similar proteins: A0A087WV53, A1CS92, A2ABU4, A2Q908, A2RUH7, A4QZL9, D3ZHA0, O01761, O70468, O75369, O88599, P05548, P11275, P11730, P11798, P13466, P21333, P56276, P56741, P70402, P79280, Q05623, Q13177, Q13203, Q13557, Q14315, Q2GM53, Q2HJF7, Q2URB7, Q5FW53, Q5PQM4, Q5RCC4, Q5VTT5, Q5ZJJ9, Q5ZKI0, Q62422, Q63518, Q6C1H8, Q6P686, Q6PHZ2

Diamond homologs: A4IF63, A5D7F8, A5D8S5, D2GXS7, D3ZHA0, D3ZQG6, F7H9X2, O70277, O75369, O75382, P13466, P21333, Q14315, Q1XHU0, Q28E95, Q3UIW8, Q5RBR0, Q60953, Q69ZI1, Q6NRD3, Q71F54, Q7Z6J0, Q80X90, Q80XJ2, Q8BTM8, Q8C120, Q8TEJ3, Q8VHX6, Q9C040, Q9ESN6, Q9HCM9, Q9R1R2, Q9VEN1, A5D7D1, D3ZEN0, D3ZHV2, D3ZQL6, E1BBG2, F1MF74, F1RA39

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
AKT	“up-regulates quantity by stabilization”	FLNC	phosphorylation
PRKCA	“up-regulates quantity by stabilization”	FLNC	phosphorylation
FILIP1L	“down-regulates quantity by destabilization”	FLNC	binding
FBLIM1	“up-regulates activity”	FLNC	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 177 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Downstream signal transduction	5	15.9×	3e-03
RHO GTPases activate PKNs	5	13.2×	4e-03
Selective autophagy	5	11.6×	6e-03
FCGR3A-mediated phagocytosis	6	9.4×	4e-03
RHO GTPase Effectors	10	5.7×	3e-03
Signaling by Rho GTPases	14	4.0×	3e-03
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	14	3.9×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

5378 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	358
Likely pathogenic	143
Uncertain significance	2336
Likely benign	1796
Benign	134

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1068545	NM_001458.5(FLNC):c.6955del (p.Ala2319fs)	Pathogenic
1068586	NM_001458.5(FLNC):c.4432C>T (p.Gln1478Ter)	Pathogenic
1068631	NM_001458.5(FLNC):c.1205del (p.Thr402fs)	Pathogenic
1068840	NM_001458.5(FLNC):c.1991_1994del (p.Asp664fs)	Pathogenic
1068841	NM_001458.5(FLNC):c.3702del (p.Val1235fs)	Pathogenic
1069362	NM_001458.5(FLNC):c.1914C>G (p.Tyr638Ter)	Pathogenic
1069877	NM_001458.5(FLNC):c.2604del (p.Ser868fs)	Pathogenic
1070209	NM_001458.5(FLNC):c.4718T>A (p.Leu1573Ter)	Pathogenic
1070523	NM_001458.5(FLNC):c.5520T>A (p.Tyr1840Ter)	Pathogenic
1070569	NM_001458.5(FLNC):c.6802G>T (p.Glu2268Ter)	Pathogenic
1070575	NM_001458.5(FLNC):c.4755del (p.Lys1586fs)	Pathogenic
1071490	NM_001458.5(FLNC):c.1670del (p.Pro557fs)	Pathogenic
1071491	NM_001458.5(FLNC):c.5733dup (p.Gly1912fs)	Pathogenic
1071678	NM_001458.5(FLNC):c.5569_5578del (p.Ile1857fs)	Pathogenic
1071863	NC_000007.13:g.(?128470682)(128498587_?)del	Pathogenic
1071864	NC_000007.13:g.(?128469483)(128500328_?)del	Pathogenic
1071931	NM_001458.5(FLNC):c.261del (p.Pro88fs)	Pathogenic
1072180	NM_001458.5(FLNC):c.2499C>A (p.Tyr833Ter)	Pathogenic
1072269	NM_001458.5(FLNC):c.3070C>T (p.Gln1024Ter)	Pathogenic
1072270	NM_001458.5(FLNC):c.6240_6259del (p.Pro2081fs)	Pathogenic
1072629	NM_001458.5(FLNC):c.181C>T (p.Gln61Ter)	Pathogenic
1073366	NM_001458.5(FLNC):c.4946del (p.Gly1649fs)	Pathogenic
1073410	NM_001458.5(FLNC):c.156dup (p.Val53fs)	Pathogenic
1074200	NM_001458.5(FLNC):c.5557del (p.Tyr1853fs)	Pathogenic
1074377	NM_001458.5(FLNC):c.563del (p.Gly188fs)	Pathogenic
1074392	NM_001458.5(FLNC):c.2548C>T (p.Gln850Ter)	Pathogenic
1074694	NM_001458.5(FLNC):c.146_147insT (p.Leu50fs)	Pathogenic
1074904	NM_001458.5(FLNC):c.1893G>A (p.Trp631Ter)	Pathogenic
1075295	NM_001458.5(FLNC):c.4275dup (p.Arg1426fs)	Pathogenic
1076103	NM_001458.5(FLNC):c.4557T>A (p.Tyr1519Ter)	Pathogenic

SpliceAI

6086 predictions. Top by Δscore:

Variant	Effect	Δscore
7:128830990:G:A	donor_loss	1.0000
7:128830991:T:A	donor_loss	1.0000
7:128835325:G:GC	acceptor_gain	1.0000
7:128835325:GACA:G	acceptor_gain	1.0000
7:128835532:G:GT	donor_gain	1.0000
7:128835572:CCGG:C	donor_loss	1.0000
7:128835575:G:C	donor_loss	1.0000
7:128835575:G:GG	donor_gain	1.0000
7:128835576:T:A	donor_loss	1.0000
7:128837150:A:AG	acceptor_gain	1.0000
7:128837151:C:G	acceptor_gain	1.0000
7:128837155:TCCA:T	acceptor_loss	1.0000
7:128837156:CCA:C	acceptor_loss	1.0000
7:128837157:CA:C	acceptor_loss	1.0000
7:128837158:A:AG	acceptor_gain	1.0000
7:128837158:AG:A	acceptor_gain	1.0000
7:128837159:G:A	acceptor_loss	1.0000
7:128837159:G:GA	acceptor_gain	1.0000
7:128837159:GG:G	acceptor_gain	1.0000
7:128837159:GGT:G	acceptor_gain	1.0000
7:128837159:GGTC:G	acceptor_gain	1.0000
7:128837159:GGTCT:G	acceptor_gain	1.0000
7:128837254:CCAGG:C	donor_loss	1.0000
7:128837258:GT:G	donor_loss	1.0000
7:128837391:A:AG	acceptor_gain	1.0000
7:128837391:ATC:A	acceptor_gain	1.0000
7:128837392:T:G	acceptor_gain	1.0000
7:128837393:C:CA	acceptor_gain	1.0000
7:128837395:CAGGT:C	acceptor_loss	1.0000
7:128837396:A:AG	acceptor_gain	1.0000

AlphaMissense

17775 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:128830737:T:A	W34R	1.000
7:128830737:T:C	W34R	1.000
7:128830739:G:C	W34C	1.000
7:128830739:G:T	W34C	1.000
7:128830762:T:C	F42S	1.000
7:128830770:T:A	W45R	1.000
7:128830770:T:C	W45R	1.000
7:128830772:G:C	W45C	1.000
7:128830772:G:T	W45C	1.000
7:128830836:G:A	G67R	1.000
7:128830836:G:C	G67R	1.000
7:128830836:G:T	G67W	1.000
7:128830911:T:C	F92L	1.000
7:128830913:C:A	F92L	1.000
7:128830913:C:G	F92L	1.000
7:128830927:T:C	L97P	1.000
7:128830934:C:A	N99K	1.000
7:128830934:C:G	N99K	1.000
7:128830945:C:A	A103D	1.000
7:128830948:T:C	L104P	1.000
7:128830953:T:C	F106L	1.000
7:128830954:T:C	F106S	1.000
7:128830955:C:A	F106L	1.000
7:128830955:C:G	F106L	1.000
7:128830957:T:C	L107P	1.000
7:128835338:T:A	I122N	1.000
7:128835359:T:C	L129P	1.000
7:128835365:T:C	L131P	1.000
7:128835367:G:C	G132R	1.000
7:128835368:G:A	G132D	1.000

dbSNP variants (sampled 300 via entrez): RS1000067177 (7:128833592 A>C), RS1000105837 (7:128855490 G>A,T), RS1000138607 (7:128832221 C>A,T), RS1000259870 (7:128844375 G>A), RS1000464437 (7:128846569 CAG>C), RS1000482846 (7:128851107 C>T), RS1000562422 (7:128855227 T>C,G), RS1000564886 (7:128828672 C>T), RS1000607433 (7:128828932 A>C), RS1000811667 (7:128835920 A>AT), RS1000944245 (7:128858052 G>A,C), RS1001455078 (7:128852156 G>A), RS1001533046 (7:128839811 C>G,T), RS1001774848 (7:128842642 G>C), RS1001883614 (7:128845445 G>A)

Disease associations

OMIM: gene MIM:102565 | disease phenotypes: MIM:609524, MIM:614065, MIM:617047, MIM:115210, MIM:187500, MIM:115200, MIM:601419, MIM:615325, MIM:256030, MIM:160500, MIM:192600, MIM:194200, MIM:115080

GenCC curated gene-disease

Disease	Classification	Inheritance
dilated cardiomyopathy	Definitive	Autosomal dominant
myofibrillar myopathy 5	Definitive	Autosomal dominant
distal myopathy with posterior leg and anterior hand involvement	Strong	Autosomal dominant
hypertrophic cardiomyopathy 26	Strong	Autosomal dominant
myofibrillar myopathy	Strong	Autosomal dominant
familial isolated restrictive cardiomyopathy	Supportive	Autosomal dominant
heart conduction disease	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (2)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
myofibrillar myopathy	Definitive	AD
dilated cardiomyopathy	Definitive	AD

Mondo (25): myofibrillar myopathy 5 (MONDO:0012289), distal myopathy with posterior leg and anterior hand involvement (MONDO:0013550), hypertrophic cardiomyopathy 26 (MONDO:0014883), cardiomyopathy (MONDO:0004994), restrictive cardiomyopathy (MONDO:0005201), limb-girdle muscular dystrophy (MONDO:0016971), dilated cardiomyopathy (MONDO:0005021), cardiomyopathy, familial restrictive, 1 (MONDO:0007270), arrhythmogenic right ventricular cardiomyopathy (MONDO:0016587), tetralogy of fallot (MONDO:0008542), familial dilated cardiomyopathy (MONDO:0016333), cardiomyopathy, familial restrictive, 5 (MONDO:0800371), hypertrophic cardiomyopathy (MONDO:0005045), myofibrillar myopathy 1 (MONDO:0011076), cardiovascular disorder (MONDO:0004995)

Orphanet (22): Muscle filaminopathy (Orphanet:171445), FLNC-related handgrip and calf weakness-distal myopathy (Orphanet:63273), Familial isolated restrictive cardiomyopathy (Orphanet:75249), Rare cardiomyopathy (Orphanet:167848), Restrictive cardiomyopathy (Orphanet:217632), Limb-girdle muscular dystrophy (Orphanet:263), Dilated cardiomyopathy (Orphanet:217604), Inherited arrhythmogenic cardiomyopathy (Orphanet:247), Tetralogy of Fallot (Orphanet:3303), Familial dilated cardiomyopathy (Orphanet:217607), Rare hypertrophic cardiomyopathy (Orphanet:217569), Autosomal recessive limb-girdle muscular dystrophy type 2R (Orphanet:363543), Desminopathy (Orphanet:98909), Nemaline myopathy (Orphanet:607), Familial dilated cardiomyopathy with conduction defect due to LMNA mutation (Orphanet:300751)

HPO phenotypes

89 total (30 of 89 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000759	Abnormal peripheral nervous system morphology
HP:0001265	Hyporeflexia
HP:0001279	Syncope
HP:0001288	Gait disturbance
HP:0001297	Stroke
HP:0001324	Muscle weakness
HP:0001430	Abnormal calf musculature morphology
HP:0001626	Abnormality of the cardiovascular system
HP:0001635	Congestive heart failure
HP:0001638	Cardiomyopathy
HP:0001639	Hypertrophic cardiomyopathy
HP:0001645	Sudden cardiac death
HP:0001653	Mitral regurgitation
HP:0001678	Atrioventricular block
HP:0001712	Left ventricular hypertrophy
HP:0001907	Thromboembolism
HP:0002015	Dysphagia
HP:0002093	Respiratory insufficiency
HP:0002094	Dyspnea
HP:0002141	Gait imbalance
HP:0002205	Recurrent respiratory infections
HP:0002240	Hepatomegaly
HP:0002515	Waddling gait
HP:0002540	Inability to walk
HP:0002600	Hyporeflexia of lower limbs
HP:0002747	Respiratory insufficiency due to muscle weakness
HP:0003198	Myopathy
HP:0003202	Skeletal muscle atrophy
HP:0003236	Elevated circulating creatine kinase concentration

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST004401_3	Reading disability or specific language impairment (pleiotropy)	4.000000e-07
GCST004402_3	Reading disability or specific language impairment adjusted for intelligence quotient (pleiotropy)	3.000000e-07
GCST011202_2	Dilated cardiomyopathy (MTAG)	9.000000e-12
GCST011210_2	Dilated cardiomyopathy	7.000000e-10
GCST012100_17	Hypertrophic cardiomyopathy (sarcomere positive)	6.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence

MeSH disease descriptors (16)

Descriptor	Name	Tree numbers
D019571	Arrhythmogenic Right Ventricular Dysplasia	C14.240.400.145; C14.280.238.028; C14.280.400.145; C16.131.240.400.145
D009202	Cardiomyopathies	C14.280.238
D002311	Cardiomyopathy, Dilated	C14.280.195.160; C14.280.238.070; C16.320.488.750
D002312	Cardiomyopathy, Hypertrophic	C14.280.238.100; C14.280.484.048.750.070.160
D024741	Cardiomyopathy, Hypertrophic, Familial	C14.280.238.100.500; C14.280.484.048.750.070.160.500; C16.320.160
D002313	Cardiomyopathy, Restrictive	C14.280.238.160
D002318	Cardiovascular Diseases	C14
D054092	Foramen Ovale, Patent	C14.240.400.560.375.258; C14.280.400.560.375.258; C16.131.240.400.560.375.258
D049288	Muscular Dystrophies, Limb-Girdle	C05.651.534.500.280; C10.668.491.175.500.149; C16.320.577.280
D017696	Myopathies, Nemaline	C05.651.575.290; C10.668.491.550.290
D013771	Tetralogy of Fallot	C14.240.400.849; C14.280.400.849; C16.131.240.400.849
D014927	Wolff-Parkinson-White Syndrome	C14.280.067.780.977; C14.280.123.750.977; C16.131.240.400.980
C566168	Cardiomyopathy, Familial Restrictive, 1 (supp.)
C537932	Filaminopathy, autosomal dominant (supp.)
C580316	Myofibrillar Myopathy (supp.)
C536231	familial dilated cardiomyopathy (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

85 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects cotreatment, increases expression, affects methylation, decreases expression, decreases methylation (+1 more)	5
bisphenol A	increases methylation, decreases expression, increases expression, affects expression, affects methylation (+1 more)	4
sodium arsenite	increases expression, affects cotreatment	3
Estradiol	affects cotreatment, increases expression, affects binding, increases reaction, decreases expression	3
Valproic Acid	increases expression, increases methylation	3
Aflatoxin B1	increases expression, increases methylation	3
bisphenol F	increases expression, affects cotreatment, decreases expression	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	2
(+)-JQ1 compound	decreases expression, increases expression	2
Fulvestrant	affects cotreatment, increases methylation, decreases expression, decreases methylation	2
Air Pollutants	increases expression, decreases expression, increases abundance	2
Copper	affects binding, increases expression	2
Dactinomycin	affects cotreatment, increases expression, increases secretion	2
Lipopolysaccharides	affects expression, affects response to substance, increases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Smoke	decreases expression, increases expression	2
Tobacco Smoke Pollution	increases expression	2
Cadmium Chloride	increases expression	2
Particulate Matter	increases expression, decreases expression, increases abundance	2
aristolochic acid I	increases expression	1
FR900359	affects phosphorylation	1
sotorasib	affects cotreatment, decreases expression	1
methylselenic acid	increases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, decreases expression	1
ethyl-p-hydroxybenzoate	increases expression	1
dimethylselenide	increases expression, increases oxidation	1
pyrazolo(3,4-d)pyrimidine	affects expression	1
arsenite	affects binding, decreases reaction	1
afimoxifene	decreases expression	1
cobaltous chloride	increases expression	1

Cellosaurus cell lines

15 cell lines: 12 induced pluripotent stem cell, 1 embryonic stem cell, 1 transformed cell line, 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A6XE	USFi002-A	Induced pluripotent stem cell	Male
CVCL_B3PX	WAe009-A-70	Embryonic stem cell	Female
CVCL_B5EY	ICANi002-A-1	Induced pluripotent stem cell	Male
CVCL_B5H4	FAMRCi011-A	Induced pluripotent stem cell	Male
CVCL_B5H5	FAMRCi011-B	Induced pluripotent stem cell	Male
CVCL_B5H6	FAMRCi010-A	Induced pluripotent stem cell	Female
CVCL_B5H7	FAMRCi009-A	Induced pluripotent stem cell	Male
CVCL_C1S6	SCVIi059-A	Induced pluripotent stem cell	Male
CVCL_C1S7	SCVIi060-A	Induced pluripotent stem cell	Male
CVCL_D0F8	HIMRi001-A	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

450 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00374465	PHASE4	UNKNOWN	Therapy With Verapamil or Carvedilol in Chronic Heart Failure
NCT01293903	PHASE4	COMPLETED	Study of Qiliqiangxin Capsule to Treat Dilated Cardiomyopathy
NCT01557140	PHASE4	COMPLETED	A Randomized Trial of Carvedilol in Chronic Chagas Cardiomyopathy
NCT01917149	PHASE4	COMPLETED	Supramaximal Titrated Inhibition of RAAS in Dilated Cardiomyopathy
NCT02115581	PHASE4	COMPLETED	Coenzyme Q10 Supplementation in Children With Idiopathic Dilated Cardiomyopathy
NCT06236022	PHASE4	RECRUITING	The Effects of Sirolimus in Patients With Dilated Cardiomyopathy Infected With Kaposi Sarcoma-associated Virus
NCT00348530	PHASE4	UNKNOWN	Carvedilol Versus Verapamil in Chronic Heart Failure Secondary to Non-Ischemic Cardiomyopathy
NCT00371891	PHASE4	COMPLETED	Ontario Multidetector Computed Tomographic (MDCT) Coronary Angiography Study (OMCAS)
NCT00401856	PHASE4	COMPLETED	CMR to Assess Fibrosis in Cardiomyopathy Using Eplerenone
NCT00559338	PHASE4	COMPLETED	Impact of Nesiritide Infusion for Decompensated Heart Failure in the Emergency Department
NCT00606775	PHASE4	UNKNOWN	The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy
NCT00658203	PHASE4	COMPLETED	Clinical Evaluation on Advanced Resynchronization
NCT00701220	PHASE4	COMPLETED	Statin Therapy for Ischemic and Nonischemic Cardiomyopathy
NCT00800761	PHASE4	COMPLETED	Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major
NCT00806390	PHASE4	TERMINATED	Prevention of Anthracycline or Trastuzumab Induced Cardiomyopathy by Metoprolol
NCT01006473	PHASE4	COMPLETED	Exercise Training in Chagas Cardiomyopathy
NCT01261065	PHASE4	COMPLETED	Mechanisms of Improvement With Beta-Blocker Treatment in Heart Failure
NCT01345188	PHASE4	COMPLETED	Ranolazine in Ischemic Cardiomyopathy
NCT01868841	PHASE4	COMPLETED	123-I mIBG (AdreView) Heart-to-Mediastinal (H/M) Ratio and SPECT Imaging on a Small Field of View-High Efficiency Cardiac SPECT System
NCT02640846	PHASE4	UNKNOWN	Effects of Levosimendan, Milrinone and Norepinephrine on Left and Right Ventricular Function in Septic Shock
NCT03228823	PHASE4	UNKNOWN	Prospective Assessment of Premature Ventricular Contractions Suppression in Cardiomyopathy(PAPS)
NCT04323852	PHASE4	COMPLETED	Can Vitamin D Reduce Heart Muscle Damage After Bypass Surgery?
NCT05034432	PHASE4	RECRUITING	The PIVATAL Study -Study of Ventricular Arrhythmia (VTA) Ablation in Left Ventricular Assist Device (LVAD) Patients
NCT05718128	PHASE4	RECRUITING	Clinical Study of Endocardial Myocardial Biopsy
NCT06964464	PHASE4	RECRUITING	Comparative Effectiveness of Carvedilol Versus Metoprolol Succinate in Heart Failure Patients With an Implantable Cardioverter Defibrillator
NCT00333827	PHASE3	COMPLETED	Cell Therapy In Dilated Cardiomyopathy
NCT00505154	PHASE3	COMPLETED	Effect of Rosuvastatin on Left Ventricular Remodeling
NCT01223703	PHASE3	COMPLETED	PUFAs and Left Ventricular Function in Heart Failure
NCT01583114	PHASE3	TERMINATED	PREclinical Mutation CARriers From Families With DIlated Cardiomyopathy and ACE Inhibitors
NCT01914081	PHASE3	UNKNOWN	Resveratrol: A Potential Anti- Remodeling Agent in Heart Failure, From Bench to Bedside
NCT02989181	PHASE3	UNKNOWN	Continues Positive Airway Pressure Treatment for Patients With Dilated Cardiomyopathy and Obstructive Sleep Apnea
NCT03439514	PHASE3	TERMINATED	A Study of ARRY-371797 (PF-07265803) in Patients With Symptomatic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation
NCT05237323	PHASE3	COMPLETED	Micophenolate Mofetil Versus Azathioprine in Myocarditis
NCT05849766	PHASE3	COMPLETED	Effect of Dapagliflozin on Cardiac Structure, Function and Secondary Mitral Regurgitation in Patients with Left Ventricle Dysfunction
NCT06250257	PHASE3	RECRUITING	Bromocriptine in Dilated Cardiomyopathy Among Women of Reproductive Age
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