CSRP3

Summary

CSRP3 (cysteine and glycine rich protein 3, HGNC:2472) is a protein-coding gene on chromosome 11p15.1, encoding Cysteine and glycine-rich protein 3 (P50461). Positive regulator of myogenesis.

This gene encodes a member of the CSRP family of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this protein is found in a group of proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Mutations in this gene are thought to cause heritable forms of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in humans. Alternatively spliced transcript variants with different 5’ UTR, but encoding the same protein, have been found for this gene.

Source: NCBI Gene 8048 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hypertrophic cardiomyopathy (Definitive, ClinGen) — +4 more curated relationships
• GWAS associations: 9
• Clinical variants (ClinVar): 515 total — 23 pathogenic, 11 likely-pathogenic (top 6% of genes corpus-wide)
• GTEx eGene: eQTL in 8 tissues, sQTL in 3 (q < 0.05)
• Phenotypes (HPO): 25
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.31 (unconstrained)
• MANE Select transcript: NM_003476

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2472
Approved symbol	CSRP3
Name	cysteine and glycine rich protein 3
Location	11p15.1
Locus type	gene with protein product
Status	Approved
Aliases	CLP, MLP, CMD1M
Ensembl gene	ENSG00000129170
Ensembl biotype	protein_coding
OMIM	600824
Entrez	8048

Gene structure

Transcript identifiers

Ensembl transcripts: 42 — 41 protein_coding, 1 nonsense_mediated_decay

MANE Select: ENST00000265968

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2

ENST00000265968, ENST00000533783, ENST00000647990, ENST00000648719, ENST00000649235, ENST00000649842, ENST00000862857, ENST00000862858, ENST00000862859, ENST00000862860, ENST00000862861, ENST00000951069, ENST00000951070, ENST00000951071, ENST00000951072, ENST00000951073, ENST00000951074, ENST00000951075, ENST00001017228, ENST00001017229, ENST00001017230, ENST00001017231, ENST00001103587, ENST00001103588, ENST00001103589, ENST00001103590, ENST00001103591, ENST00001103592, ENST00001103593, ENST00001103594, ENST00001103595, ENST00001103596, ENST00001103597, ENST00001103598, ENST00001103599, ENST00001103600, ENST00001103601, ENST00001106018, ENST00001130743, ENST00001130744, ENST00001130745, ENST00001137301

RefSeq mRNA: 2 — MANE Select: NM_003476 NM_001369404, NM_003476

CCDS: CCDS7848, CCDS91449

Canonical transcript exons

ENST00000265968 — 6 exons

Exon	Start	End
ENSE00000707240	19186216	19186348
ENSE00000707241	19188136	19188304
ENSE00000997759	19192337	19192476
ENSE00001746098	19184952	19185045
ENSE00003834859	19201954	19201983
ENSE00003891764	19182030	19182746

Expression profiles

Bgee: expression breadth ubiquitous, 173 present calls, max score 99.94.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 3.5223 / max 841.6679, expressed in 72 samples.

Highest expression (Bgee): skeletal muscle tissue of rectus abdominis, heart right ventricle, ventricle myocardium, biceps brachii, apex of heart.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CSRP3 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 8 tissues and its splicing (sQTL) in 3 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

11 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Heart Atrial Appendage	sqtl	4.6e-24	+0.58	11:19185818:A:T
Heart Left Ventricle	sqtl	2.1e-08	+0.41	11:19186523:C:A
Muscle Skeletal	sqtl	5.3e-04	+0.21	11:19198727:TG:T
Spleen	eqtl	3.6e-03	+0.82	11:19681212:C:T
Skin Sun Exposed Lower leg	eqtl	4.9e-03	-0.43	11:19403687:A:T
Muscle Skeletal	eqtl	6.6e-03	+0.12	11:19221986:G:A
Adipose Subcutaneous	eqtl	1.8e-02	+0.41	11:19823822:C:T
Adrenal Gland	eqtl	2.4e-02	-0.47	11:19678778:C:T
Colon Transverse	eqtl	3.4e-02	+0.84	11:18569105:A:G
Skin Not Sun Exposed Suprapubic	eqtl	3.5e-02	-0.37	11:19537745:G:C
Testis	eqtl	3.9e-02	-0.61	11:19200782:C:T

FANTOM5 promoters

2 alternative TSS:

Promoter ID	TPM avg	Samples expressed
118984	3.4820	71
206223	0.0403	19

Top tissues by expression

showing 100 of 283 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.94	gold quality
heart right ventricle	UBERON:0002080	99.93	gold quality
left ventricle myocardium	UBERON:0006566	99.88	gold quality
biceps brachii	UBERON:0001507	99.81	gold quality
apex of heart	UBERON:0002098	99.81	gold quality
myocardium	UBERON:0002349	99.79	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.76	gold quality
diaphragm	UBERON:0001103	99.70	gold quality
gluteal muscle	UBERON:0002000	99.69	gold quality
cardiac muscle of right atrium	UBERON:0003379	99.63	gold quality
cardiac atrium	UBERON:0002081	99.62	gold quality
right atrium auricular region	UBERON:0006631	99.61	gold quality
vastus lateralis	UBERON:0001379	99.60	gold quality
quadriceps femoris	UBERON:0001377	99.57	gold quality
triceps brachii	UBERON:0001509	99.55	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.55	gold quality
skeletal muscle tissue	UBERON:0001134	99.47	gold quality
body of tongue	UBERON:0011876	99.45	gold quality
cardiac ventricle	UBERON:0002082	99.41	gold quality
heart left ventricle	UBERON:0002084	99.39	gold quality
vena cava	UBERON:0004087	99.31	gold quality
deltoid	UBERON:0001476	99.16	gold quality
tibialis anterior	UBERON:0001385	98.97	gold quality
gastrocnemius	UBERON:0001388	95.94	gold quality
muscle organ	UBERON:0001630	95.82	gold quality
skeletal muscle organ	UBERON:0014892	95.81	gold quality
heart	UBERON:0000948	94.61	gold quality
muscle tissue	UBERON:0002385	94.50	gold quality
muscle of leg	UBERON:0001383	94.35	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.95	gold quality
tongue	UBERON:0001723	90.62	gold quality
pharyngeal mucosa	UBERON:0000355	82.72	gold quality
superior surface of tongue	UBERON:0007371	82.50	gold quality
oral cavity	UBERON:0000167	76.09	gold quality
trabecular bone tissue	UBERON:0002483	73.19	gold quality
adrenal tissue	UBERON:0018303	67.52	gold quality
tendon of biceps brachii	UBERON:0008188	64.25	silver quality
mouth mucosa	UBERON:0003729	59.03	gold quality
minor salivary gland	UBERON:0001830	58.98	gold quality
synovial joint	UBERON:0002217	57.83	gold quality
jejunum	UBERON:0002115	57.67	gold quality
popliteal artery	UBERON:0002250	56.96	gold quality
tibial artery	UBERON:0007610	56.93	gold quality
right lobe of thyroid gland	UBERON:0001119	56.77	gold quality
saliva-secreting gland	UBERON:0001044	56.62	gold quality
right lung	UBERON:0002167	55.25	gold quality
left coronary artery	UBERON:0001626	55.10	gold quality
lymph node	UBERON:0000029	54.73	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	54.51	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	53.80	gold quality
skin of leg	UBERON:0001511	53.77	gold quality
aorta	UBERON:0000947	53.69	gold quality
upper lobe of left lung	UBERON:0008952	53.61	gold quality
left lobe of thyroid gland	UBERON:0001120	53.34	gold quality
oocyte	CL:0000023	53.26	gold quality
muscle layer of sigmoid colon	UBERON:0035805	52.94	gold quality
thyroid gland	UBERON:0002046	52.71	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	52.53	gold quality
upper lobe of lung	UBERON:0008948	52.50	gold quality
coronary artery	UBERON:0001621	52.41	gold quality
embryo	UBERON:0000922	51.99	silver quality
layer of synovial tissue	UBERON:0007616	51.97	silver quality
omental fat pad	UBERON:0010414	51.85	gold quality
peritoneum	UBERON:0002358	51.81	gold quality
skin of abdomen	UBERON:0001416	51.77	gold quality
tibial nerve	UBERON:0001323	51.53	gold quality
anatomical system	UBERON:0000467	51.48	gold quality
subcutaneous adipose tissue	UBERON:0002190	51.45	gold quality
multicellular organism	UBERON:0000468	51.38	gold quality
material anatomical entity	UBERON:0000465	51.37	gold quality
right frontal lobe	UBERON:0002810	51.36	gold quality
adipose tissue of abdominal region	UBERON:0007808	51.23	gold quality
mucosa of stomach	UBERON:0001199	51.18	gold quality
zone of skin	UBERON:0000014	51.17	gold quality
amygdala	UBERON:0001876	50.88	gold quality
cingulate cortex	UBERON:0003027	50.80	gold quality
right lobe of liver	UBERON:0001114	50.77	gold quality
putamen	UBERON:0001874	50.67	gold quality
metanephros	UBERON:0000081	50.65	gold quality
sigmoid colon	UBERON:0001159	50.62	gold quality
body of stomach	UBERON:0001161	50.53	gold quality
blood	UBERON:0000178	50.45	gold quality
anterior cingulate cortex	UBERON:0009835	50.43	gold quality
frontal pole	UBERON:0002795	50.41	gold quality
hypothalamus	UBERON:0001898	50.31	gold quality
thymus	UBERON:0002370	50.30	gold quality
middle frontal gyrus	UBERON:0002702	50.30	gold quality
ascending aorta	UBERON:0001496	50.19	gold quality
paraflocculus	UBERON:0005351	50.18	gold quality
Brodmann (1909) area 10	UBERON:0013541	50.18	gold quality
descending thoracic aorta	UBERON:0002345	49.91	gold quality
substantia nigra	UBERON:0002038	49.83	gold quality
metanephric glomerulus	UBERON:0004736	49.61	gold quality
Brodmann (1909) area 46	UBERON:0006483	49.56	gold quality
thoracic aorta	UBERON:0001515	49.53	gold quality
esophagus	UBERON:0001043	49.52	gold quality
lower esophagus muscularis layer	UBERON:0035833	49.37	gold quality
esophagus mucosa	UBERON:0002469	49.29	gold quality
cerebellar vermis	UBERON:0004720	49.25	gold quality
lower esophagus	UBERON:0013473	49.23	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

HPA expression

RNA tissue specificity: Tissue enhanced

45 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Heart muscle	tissue	2447.5	high
Skeletal muscle	tissue	1545.8	high
Tongue	tissue	540.3
Esophagus	tissue	37.3	not detected
Prostate	tissue	30.8	not detected
Breast	tissue	2.6	not detected
Pancreas	tissue	2.5	not detected
Postcentral gyrus	tissue	1.5
Lymph node	tissue	1.1	not detected
Locus coeruleus	tissue	1.1
Choroid plexus	tissue	1.0
Nucleus accumbens	tissue	0.9
Salivary gland	tissue	0.8	not detected
Hippocampus	tissue	0.7	not detected
Thyroid gland	tissue	0.6	not detected
Gallbladder	tissue	0.4	not detected
Vagina	tissue	0.3	not detected
Olfactory bulb	tissue	0.3
Testis	tissue	0.2	not detected
Cerebral cortex	tissue	0.2	not detected
Ovary	tissue	0.2	not detected
Cerebellum	tissue	0.2	not detected
Retrosplenial and cingulate cortex	tissue	0.2
Temporal cortex	tissue	0.2
Insular cortex	tissue	0.2
Pituitary gland	tissue	0.1
Prefrontal cortex	tissue	0.1
Stomach 1	tissue	0.1	not detected
Adipose tissue	tissue	0.1	not detected
Colon	tissue	0.1	not detected
Urinary bladder	tissue	0.1	not detected
Endometrium 1	tissue	0.1	not detected
Motor cortex	tissue	0.1
Amygdala	tissue	0.1
Hypothalamus	tissue	0.1
Superior colliculi	tissue	0.1
Placenta	tissue	0.1	not detected
Thymus	tissue	0.1
Bone marrow	tissue	0.1	not detected
Tonsil	tissue	0.1	not detected
Hippocampal formation	tissue	0.1
Entorhinal cortex	tissue	0.1
Periaqueductal gray	tissue	0.1
Retrosplenial cortex	tissue	0.1
Occipital cortex	tissue	0.1

Brain sub-regions (HPA Brain Atlas): detected in 184; highest nTPM — Blood vessel (13.8), Vermis (2.0), Area striata (white matter) (1.7), Flocculonodular lobe (1.7), Cerebellar cortex (1.6).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MEF2C

miRNA regulators (miRDB)

Targeting CSRP3 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 31 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-4760-5P	99.80	69.88	1619
HSA-MIR-489-3P	99.80	66.46	839
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-1197	99.70	67.75	1027
HSA-MIR-8061	99.63	69.44	1411
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-136-5P	99.50	67.26	1153
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-4784	99.15	67.41	1733
HSA-MIR-5701	98.97	69.54	1502
HSA-MIR-3150B-3P	98.81	67.21	1728
HSA-MIR-2117	98.48	67.97	1307
HSA-MIR-12126	98.09	64.82	637
HSA-MIR-4303	98.01	68.13	2304
HSA-MIR-450A-2-3P	97.91	67.56	1459
HSA-MIR-890	97.47	68.67	982
HSA-MIR-3200-5P	97.34	65.97	826
HSA-MIR-4689	96.97	65.79	1209

Functional genomics

gnomAD constraint: pLI 1.04e-07, LOEUF 1.31, missense Z 0.466 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000265968 — one region, missense o/e 0.96.

Literature-anchored findings (GeneRIF, showing 21)

• CSRP3 is involved in cardiac mechanosensory processes, is localized to the sarcomeric Z-disc and human mutations cause cardiomyopathy(DCM)and heart failure. (PMID:12507422)
• Mutations in the CRP3/MLP gene can cause hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). (PMID:12642359)
• CSRP3, MUSTN1, SIX1, and FBXO32 expression changes in response to lengthening and shortening contractions in human muscle (PMID:17519359)
• A myocardial actin-binding protein that increases actin cytoskeleton stability by promoting bundling of actin filaments. (PMID:18331358)
• These findings suggest that hhLIM is a typical LIM family member with powerful transcription activation. (PMID:18393774)
• Study used linkage analysis and identified a CSRP3 missense mutation in a large German family affected by hypertrophic cardiomyopathy. (PMID:18505755)
• CSRP3 mutation was found involved in hypertrophic cardiomyopathy. (PMID:19035361)
• The structure of both LIM domains of human MLP by nuclear magnetic resonance spectroscopy. (PMID:19230835)
• CRP3/MLP is primarily expressed in arterial smooth muscle cells and that stretch is the main stimulus for CRP3/MLP induction in veins exposed to arterial haemodynamic conditions. (PMID:19351738)
• Complete chemical shift assignment was achieved for the first LIM domain and for most of the second domain, the N-terminal and C-terminal linker and part of the intervening linker. (PMID:19636821)
• MLP binds directly to CFL2 in human cardiac and skeletal muscles. (PMID:19752190)
• The CSRP3-W4R mutation causes cardiomyopathy and heart failure in patients and engineered knock-in animals. (PMID:20044516)
• KLF5 reverses hhLIM function from anti-proliferation to pro-proliferation through its interaction with hhLIM on the cyclin E promoter. (PMID:22584587)
• study reports the discovery of an alternative splice variant of muscle lim protein encoded by the CSRP3 gene, designated as MLP-b, showing distinct expression in neuromuscular disease and direct roles in actin dynamics and muscle differentiation (PMID:24860983)
• MLP contributes to the maintenance of cardiomyocyte cytoarchitecture by a mechanism involving its self-association and actin filament cross-linking. (PMID:24934443)
• Previous results along with the newly identified homozygous CSRP3 truncating variants in two unrelated hypertrophic cardiomyopathy (HCM) patients suggest that the association of CSRP3 as a validated HCM-causing gene require additional studies and those CSRP3 variants could result in HCM with an autosomal recessive inheritance rather than with an autosomal dominant transmission as usually reported on HCM. (PMID:30012424)
• MLP-deficient human embryonic stem cell derived cardiomyocytes recapitulate the pathogenesis of hypertrophic cardiomyopathy. (PMID:31406109)
• Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy. (PMID:31919335)
• The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals. (PMID:33035702)
• LIM domain-wide comprehensive virtual mutagenesis provides structural rationale for cardiomyopathy mutations in CSRP3. (PMID:35241752)
• Identification and in silico characterization of CSRP3 synonymous variants in dilated cardiomyopathy. (PMID:36877346)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	csrp3	ENSDARG00000101706
mus_musculus	Csrp3	ENSMUSG00000030470
rattus_norvegicus	Csrp3	ENSRNOG00000014327
drosophila_melanogaster	Mlp84B	FBGN0014863
drosophila_melanogaster	Mlp60A	FBGN0259209
caenorhabditis_elegans		WBGENE00003375

Paralogs (2): CSRP1 (ENSG00000159176), CSRP2 (ENSG00000175183)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1330824) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 34 distinct phenotype terms.

Mouse phenotype (MP)	Records
dilated heart left ventricle	3
dilated cardiomyopathy	3
increased heart weight	3
increased heart left ventricle weight	2
decreased cardiac muscle contractility	2
abnormal heart morphology	1
enlarged heart	1
myopathy	1
decreased body weight	1
abnormal cardiovascular system physiology	1
cardiac hypertrophy	1
premature death	1
abnormal skeletal muscle fiber morphology	1
cardiac fibrosis	1
abnormal cardiac muscle relaxation	1
abnormal myocardial fiber physiology	1
decreased response of heart to induced stress	1
increased myocardial fiber size	1
abnormal heart ventricle morphology	1
cardiomyopathy	1
decreased heart ventricle muscle contractility	1
increased cardiac muscle contractility	1
cardiac interstitial fibrosis	1
increased lung weight	1
abnormal heart septum morphology	1

+9 more (showing top 25).

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Oryctolagus cuniculus	O77506	100.0%	Diamond
Gallus gallus	P67966	100.0%	Diamond
Coturnix japonica	P67967	100.0%	Diamond
Bos taurus	Q32LE9	100.0%	Diamond
Pongo abelii	Q5R5W0	100.0%	Diamond
Arabidopsis thaliana	O04193	85.0%	Diamond
Sus scrofa	B0KYV5	82.5%	Diamond
Helianthus annuus	P29675	72.0%	Diamond
Oryza sativa Japonica Group	Q7F9R9	64.7%	Diamond
Dictyostelium discoideum	Q9BIW4	50.9%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
NAV2-AS5	ncRNA	100874012
MRGPRX2	protein-coding	117194
ZDHHC13	protein-coding	54503
E2F8	protein-coding	79733
NAV2	protein-coding	89797
CSRP3-AS1	ncRNA	105376580

Protein

Protein identifiers

Cysteine and glycine-rich protein 3 — P50461 (reviewed: P50461)

Alternative names: Cardiac LIM protein, Cysteine-rich protein 3, LIM domain protein, cardiac, Muscle LIM protein

All UniProt accessions (5): A0A3B3IRI5, A0A3B3ISZ2, A0A3B3IT61, A2TDB8, P50461

UniProt curated annotations — full annotation on UniProt →

Function. Positive regulator of myogenesis. Acts as a cofactor for myogenic bHLH transcription factors such as MYOD1, and probably MYOG and MYF6. Enhances the DNA-binding activity of the MYOD1:TCF3 isoform E47 complex and may promote formation of a functional MYOD1:TCF3 isoform E47:MEF2A complex involved in myogenesis. Plays a crucial and specific role in the organization of cytosolic structures in cardiomyocytes. Could play a role in mechanical stretch sensing. May be a scaffold protein that promotes the assembly of interacting proteins at Z-line structures. It is essential for calcineurin anchorage to the Z line. Required for stress-induced calcineurin-NFAT activation. The role in regulation of cytoskeleton dynamics by association with CFL2 is reported conflictingly: Shown to enhance CFL2-mediated F-actin depolymerization dependent on the CSRP3:CFL2 molecular ratio, and also shown to reduce the ability of CLF1 and CFL2 to enhance actin depolymerization. Proposed to contribute to the maintenance of muscle cell integrity through an actin-based mechanism. Can directly bind to actin filaments, cross-link actin filaments into bundles without polarity selectivity and protect them from dilution- and cofilin-mediated depolymerization; the function seems to involve its self-association. In vitro can inhibit PKC/PRKCA activity. Proposed to be involved in cardiac stress signaling by down-regulating excessive PKC/PRKCA signaling. May play a role in early sarcomere organization. Overexpression in myotubes negatively regulates myotube differentiation. By association with isoform 1 and thus changing the CSRP3 isoform 1:CFL2 stoichiometry is proposed to down-regulate CFL2-mediated F-actin depolymerization.

Subunit / interactions. Self-associates. Oligomeric in the cytoplasm and monomeric in the nucleus. Homooligomers preferentially form along the actin cytoskeleton. Isoform 2 interacts with isoform 1. Isoform 1 but not isoform 2 interacts with MYOD1 and MYOG. Isoform 1 interacts with TCAP, ACTN2 and NRAP. Isoform 2 interacts with TCAP and alpha-actinin. Interacts with LDHD. Interacts (via N-terminus)with GLRX3 (via C-terminus) and PPP3CA; GLRX3 and calcineurin compete for interaction with CSRP3. Interacts with MYF6. Interacts with CFL2; the stoichiometry influences F-actin depolymerization and possibly two molecules of CFL2 can interact with one molecule of CSRP3 resulting in the highest functional impact; the interaction is stronger with phosphorylated CFL2.

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

Tissue specificity. Cardiac and slow-twitch skeletal muscles. Isoform 2 is expressed in striated muscle. Isoform 2 is specifically expressed at higher levels in patients with neuromuscular diseases, such as limb-girdle muscular dystrophy 2A (LGMD2A), Duchenne muscular dystrophy (DMD) and dermatomyositis.

Post-translational modifications. Phosphorylated by PKC/PRKCA.

Disease relevance. Cardiomyopathy, dilated, 1M (CMD1M) [MIM:607482] A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry. Cardiomyopathy, familial hypertrophic, 12 (CMH12) [MIM:612124] 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.

Domain organisation. LIM zinc-binding domain 1 is required for self-association. LIM zinc-binding domain 1 and LIM zinc-binding domain 2 both are required for optimal actin-bundling activity. LIM zinc-binding domain 1 mediates binding to MYOD1. LIM zinc-binding domain 2 mediates binding to SPTB.

Isoforms (2)

UniProt ID	Names	Canonical?
P50461-1	1, MLP-a	yes
P50461-2	2, MLP-b

RefSeq proteins (2): NP_001356333, NP_003467* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001781	Znf_LIM	Domain

Pfam: PF00412

UniProt features (38 total): strand 11, turn 6, sequence variant 5, helix 4, domain 2, region of interest 2, modified residue 2, splice variant 2, chain 1, mutagenesis site 1, sequence conflict 1, short sequence motif 1

Structure

Experimental structures (PDB)

2 structures by resolution:

PDB	Title	Method	Resolution (Å)
2O10	Solution structure of the N-terminal LIM domain of MLP/CRP3	SOLUTION NMR
2O13	Solution structure of the C-terminal LIM domain of MLP/CRP3	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P50461-F1	73.91	0.13

Human Protein Atlas

Protein class: Predicted intracellular proteins, Plasma proteins, Disease related genes, Human disease related genes

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): cytosol; nucleoplasm

Antibody reliability (HPA): IH enhanced · IF uncertain

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 (2)

Type	Positions
Phosphoserine	95, 153

Mutagenesis-validated functional residues (1)

Position	Phenotype
69	increases pkc/prkca activity.

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 244 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_RESPONSE_TO_MUSCLE_STRETCH, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_INFLAMMATORY_RESPONSE, GOBP_PLASMA_MEMBRANE_ORGANIZATION, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_CARDIAC_MYOFIBRIL_ASSEMBLY, MEF2_02, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, MODULE_329, GOBP_SARCOMERE_ORGANIZATION, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GNF2_MYL3

GO Biological Process (19): regulation of the force of heart contraction (GO:0002026), cardiac muscle hypertrophy (GO:0003300), DNA-templated transcription (GO:0006351), intracellular calcium ion homeostasis (GO:0006874), skeletal muscle tissue development (GO:0007519), detection of muscle stretch (GO:0035995), sarcomere organization (GO:0045214), negative regulation of myoblast differentiation (GO:0045662), positive regulation of myoblast differentiation (GO:0045663), positive regulation of transcription by RNA polymerase II (GO:0045944), cardiac muscle tissue development (GO:0048738), cardiac myofibril assembly (GO:0055003), cardiac muscle contraction (GO:0060048), muscle tissue development (GO:0060537), establishment of protein localization to organelle (GO:0072594), negative regulation of actin filament severing (GO:1903919), positive regulation of actin filament severing (GO:1903920), muscle organ development (GO:0007517), cell differentiation (GO:0030154)

GO Molecular Function (7): actin binding (GO:0003779), structural constituent of muscle (GO:0008307), telethonin binding (GO:0031433), identical protein binding (GO:0042802), actinin binding (GO:0042805), metal ion binding (GO:0046872), protein binding (GO:0005515)

GO Cellular Component (6): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), cytoskeleton (GO:0005856), Z disc (GO:0030018), sarcomere (GO:0030017)

GO top-level categories

46 GO namespaces:

Category	Terms
cellular anatomical structure	4
cytoskeletal protein binding	3
striated muscle tissue development	2
myofibril assembly	2
myoblast differentiation	2
regulation of myoblast differentiation	2
actin filament severing	2
regulation of actin filament severing	2
regulation of heart contraction	1
regulation of biological quality	1
striated muscle hypertrophy	1
gene expression	1
RNA biosynthetic process	1
intracellular monoatomic cation homeostasis	1
calcium ion homeostasis	1
skeletal muscle organ development	1
response to muscle stretch	1
detection of mechanical stimulus	1
actomyosin structure organization	1
negative regulation of cell differentiation	1
positive regulation of cell differentiation	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
heart development	1
cardiac muscle cell development	1
striated muscle contraction	1
heart contraction	1
tissue development	1
animal gross anatomical part developmental process	1
establishment of protein localization	1
negative regulation of cellular process	1
positive regulation of cellular process	1
animal organ development	1
muscle structure development	1
cellular developmental process	1
structural molecule activity	1
protein binding	1
cation binding	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
intracellular membraneless organelle	1
I band	1
myofibril	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 15 of 32 annotations. The rest are phylogenetic / computational / electronic (IEA).

15 experimentally-supported GO terms:

GO term	NS	Evidence
cardiac muscle contraction	BP	mutant phenotype
cardiac muscle hypertrophy	BP	mutant phenotype
detection of muscle stretch	BP	mutant phenotype
establishment of protein localization to organelle	BP	mutant phenotype
negative regulation of actin filament severing	BP	direct assay
negative regulation of myoblast differentiation	BP	direct assay
positive regulation of actin filament severing	BP	direct assay
positive regulation of myoblast differentiation	BP	direct assay
positive regulation of transcription by RNA polymerase II	BP	genetic interaction
sarcomere organization	BP	mutant phenotype
Z disc	CC	direct assay
cytosol	CC	direct assay
identical protein binding	MF	physical interaction
structural constituent of muscle	MF	mutant phenotype
telethonin binding	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 1,060 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CSRP3	MYBPC3	Q14896	880
CSRP3	TCAP	O15273	867
CSRP3	MYL3	P08590	852
CSRP3	ACTC1	P04270	842
CSRP3	TNNI3	P19429	835
CSRP3	MYH7	P12883	830
CSRP3	TTN	Q8WZ42	830
CSRP3	TNNT2	P45379	828
CSRP3	TPM1	P09493	822
CSRP3	MYL2	P10916	795
CSRP3	LDB3	O75112	783
CSRP3	ACTN2	P35609	775
CSRP3	RBM20	Q5T481	773
CSRP3	PRKAG2	Q9UGJ0	770
CSRP3	MYH6	P13533	747

IntAct

Human interaction partners of CSRP3 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

14 partners by confidence:

Partner	Interaction type	MIscore	Records
ACTN2	direct interaction	0.690	3
TCAP	association	0.630	3
HTT	physical association	0.560	3
CFL2	direct interaction	0.440	2
NRAP	direct interaction	0.440	2
MYOD1	direct interaction	0.440	1
MYOG	direct interaction	0.440	1
SDC4	direct interaction	0.440	1
XPNPEP1	physical association	0.400	1
RIN3	physical association	0.370	1
MRPL11	association	0.350	1
NME2	association	0.350	1
FHL1	physical association	0.000	1
LIMS1	physical association	0.000	1

BioGRID (19 interactions; top human partners by supporting records): MYOD1 (Phenotypic Enhancement; 4 records), HDAC4 (Affinity Capture-Western; 2 records), FHL1 (Two-hybrid), GNB2 (Affinity Capture-MS), KLF5 (Affinity Capture-Western), LDHD (Reconstituted Complex), LIMS1 (Two-hybrid), MRPL11 (Affinity Capture-MS), MYF6 (Reconstituted Complex), MYOG (Reconstituted Complex), NME2 (Affinity Capture-MS), RIN3 (Two-hybrid), SMPDL3B (Affinity Capture-MS), UCHL1 (Affinity Capture-MS), XPNPEP1 (Affinity Capture-MS)

SIGNOR signaling

3 signaling interactions:

A	Effect	B	Mechanism
CSRP3	“up-regulates activity”	MYF6	binding
CSRP3	“up-regulates activity”	MYOG	binding
CSRP3	“up-regulates activity”	MYOD1	binding

Disease & clinical

Genetic variants

Variant evidence for CSRP3: 515 ClinVar records (34 pathogenic / likely pathogenic); 1 PharmGKB clinical annotation; 9 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	23
Likely pathogenic	11
Uncertain significance	272
Likely benign	133
Benign	19

Top pathogenic / likely-pathogenic (15)

Showing the 15 best-reviewed of 34 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
8777	NM_003476.5(CSRP3):c.172T>G (p.Cys58Gly)	Pathogenic	criteria provided, multiple submitters, no conflicts	3
1324182	NM_003476.5(CSRP3):c.50_51insGCAGATTTCTT (p.Tyr18fs)	Pathogenic	criteria provided, multiple submitters, no conflicts	3
216572	NM_003476.5(CSRP3):c.337A>T (p.Lys113Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	2
915578	NM_003476.5(CSRP3):c.414+1G>T	Likely pathogenic	criteria provided, multiple submitters, no conflicts	3
222535	NM_003476.5(CSRP3):c.49del (p.Val17fs)	Pathogenic	criteria provided, single submitter	1
279792	NM_003476.5(CSRP3):c.122_123dup (p.Lys42fs)	Pathogenic	criteria provided, single submitter	1
543041	NM_003476.5(CSRP3):c.55del (p.His19fs)	Pathogenic	criteria provided, single submitter	1
655718	NM_003476.5(CSRP3):c.52del (p.Tyr18fs)	Pathogenic	criteria provided, single submitter	1
1008253	NM_003476.5(CSRP3):c.377C>G (p.Ser126Ter)	Pathogenic	criteria provided, single submitter	1
1009234	NM_003476.5(CSRP3):c.49_55del (p.Val17fs)	Pathogenic	criteria provided, single submitter	1
1418855	NM_003476.5(CSRP3):c.82_85del (p.Arg28fs)	Pathogenic	criteria provided, single submitter	1
1470431	NM_003476.5(CSRP3):c.165del (p.Ile56fs)	Pathogenic	criteria provided, single submitter	1
2932324	NM_003476.5(CSRP3):c.186T>G (p.Tyr62Ter)	Pathogenic	criteria provided, single submitter	1
2951005	NM_003476.5(CSRP3):c.279del (p.Gln93fs)	Pathogenic	criteria provided, single submitter	1
3752686	NM_003476.5(CSRP3):c.444dup (p.Ile149fs)	Pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore CSRP3’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 26 predictions of 429):

Position(s)	Effect	Δscore	Sites
11:19185046–19185047	acceptor_loss	1.0000	5
11:19186258	donor_gain	1.0000
11:19185047	acceptor_loss	0.9900
11:19186214–19186215	donor_loss	0.9900	5
11:19186349–19186350	acceptor_loss	0.9900	6
11:19184950–19184951	donor_loss	0.9800	4
11:19186214	donor_loss	0.9800
11:19186253	donor_gain	0.9800
11:19184950	donor_loss	0.9700
11:19186351	acceptor_loss	0.9700

HPA cancer prognostics

RNA cancer specificity: Cancer enriched (Head and Neck Squamous Cell Carcinoma)

Disease associations

OMIM: gene MIM:600824 | disease phenotypes: MIM:607482, MIM:612124

GenCC curated gene-disease

4 curated gene-disease records:

Disease	Classification	Inheritance	Records
hypertrophic cardiomyopathy 12	Definitive	Autosomal dominant	4
familial isolated dilated cardiomyopathy	Supportive	Autosomal dominant
dilated cardiomyopathy 1M	Limited	Autosomal dominant	2
familial dilated cardiomyopathy	Limited	Autosomal dominant

ClinGen Gene-Disease Validity

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

2 validity classifications:

Disease	Classification	Inheritance
hypertrophic cardiomyopathy	Definitive	SD
dilated cardiomyopathy 1M	Limited	AD

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (6 panels, 3 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

6 panels:

Panel	Rating
Dilated Cardiomyopathy and conduction defects	green
Hypertrophic cardiomyopathy	green
Paediatric or syndromic cardiomyopathy	green
Dilated and arrhythmogenic cardiomyopathy	amber
Sudden unexplained death or survivors of a cardiac event	amber
Unexplained death in infancy and sudden unexplained death in childhood	amber

Mondo (7): dilated cardiomyopathy 1M (MONDO:0011840), hypertrophic cardiomyopathy 12 (MONDO:0012804), cardiomyopathy (MONDO:0004994), dilated cardiomyopathy (MONDO:0005021), hypertrophic cardiomyopathy (MONDO:0005045), (MONDO:0015470), familial dilated cardiomyopathy (MONDO:0016333)

Orphanet (4): Familial isolated dilated cardiomyopathy (Orphanet:154), Rare cardiomyopathy (Orphanet:167848), Dilated cardiomyopathy (Orphanet:217604), Rare hypertrophic cardiomyopathy (Orphanet:217569)

HPO phenotypes

25 phenotypes (HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000407	Sensorineural hearing impairment
HP:0000969	Edema
HP:0001635	Congestive heart failure
HP:0001639	Hypertrophic cardiomyopathy
HP:0001644	Dilated cardiomyopathy
HP:0001645	Sudden cardiac death
HP:0001706	Endocardial fibroelastosis
HP:0001727	Thromboembolic stroke
HP:0002875	Exertional dyspnea
HP:0003198	Myopathy
HP:0003457	EMG abnormality
HP:0003581	Adult onset
HP:0004756	Ventricular tachycardia
HP:0004757	Paroxysmal atrial fibrillation
HP:0005144	Ventricular septal hypertrophy
HP:0006670	Impaired myocardial contractility
HP:0011675	Arrhythmia
HP:0012378	Fatigue
HP:0012664	Reduced left ventricular ejection fraction
HP:0012764	Orthopnea
HP:0025169	Left ventricular systolic dysfunction
HP:0033755	Increased left ventricular end-diastolic volume
HP:0034386	Reduced left ventricular endsystolic diameter
HP:0100578	Lipoatrophy

GWAS associations

9 associations:

Study	Trait	p-value
GCST90002390_450	Mean corpuscular hemoglobin	1e-38
GCST90002403_434	Red blood cell count	1e-28
GCST90002392_270	Mean corpuscular volume	2e-24
GCST90002397_4	Mean spheric corpuscular volume	3e-24
GCST004602_247	Mean corpuscular volume	9e-20
GCST004601_22	Red blood cell count	8e-16
GCST004630_76	Mean corpuscular hemoglobin	6e-14
GCST90002392_269	Mean corpuscular volume	5e-12
GCST004863_36	Mosquito bite size	7e-6

EFO canonical traits (from GWAS)

3 canonical traits:

EFO ID	Trait name
EFO:0004305	erythrocyte count
EFO:0004527	mean corpuscular hemoglobin
EFO:0008378	mosquito bite reaction size measurement

MeSH disease descriptors

5 disease descriptors:

Descriptor	Name	Tree numbers
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
C564390	Cardiomyopathy, Dilated, 1M *(supp.)*
C536231	familial dilated cardiomyopathy *(supp.)*

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

PharmGKB clinical annotations

1 annotations by evidence level (1 strongest → 4):

Variant	Association	Level	Drugs	Phenotypes
rs983332	Efficacy	3	Tumor necrosis factor alpha (TNF-alpha) inhibitors	Rheumatoid arthritis

PharmGKB variants

1 variants:

Variant	Genes	Level	Score	#Clin annots	Drugs
rs983332	CSRP3	3	2.75	1	Tumor necrosis factor alpha (TNF-alpha) inhibitors

PharmGKB variant annotations

Per-publication pharmacogenomic findings for this gene (significant associations).

1 published findings:

Variant	Drug(s)	Category	Finding	PMID
rs983332	Tumor necrosis factor alpha (TNF-alpha) inhibitors	Efficacy	Allele T is associated with increased risk of non-response when treated with Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to allele G.	PMID:18615156

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
pirinixic acid	affects binding, increases activity, increases expression	1
bisphenol A	increases expression	1
perfluorooctanoic acid	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
CGP 52608	affects binding, increases reaction	1
perfluorohexanesulfonic acid	increases expression	1
incobotulinumtoxinA	decreases expression	1
Temozolomide	affects response to substance	1
Sunitinib	decreases expression	1
Arsenic Trioxide	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Carmustine	affects response to substance	1
Doxorubicin	increases expression	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	increases expression	1
Triclosan	decreases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	increases methylation	1
Sodium Selenite	decreases expression	1
Okadaic Acid	increases expression	1

Cellosaurus cell lines

2 cell lines: 1 embryonic stem cell, 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A1YG	WAe009-A-41	Embryonic stem cell	Female
CVCL_E1UM	HAP1 CSRP3 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 308 trials:

NCT	Phase	Status	Title
NCT01798992	Phase 4	COMPLETED	Effect of Beta-blockers on Structural Remodeling and Gene Expression in the Failing Human Heart
NCT00348530	Phase 4	UNKNOWN	Carvedilol Versus Verapamil in Chronic Heart Failure Secondary to Non-Ischemic Cardiomyopathy
NCT00371891	Phase 4	COMPLETED	Ontario Multidetector Computed Tomographic (MDCT) Coronary Angiography Study (OMCAS)
NCT00401856	Phase 4	COMPLETED	CMR to Assess Fibrosis in Cardiomyopathy Using Eplerenone
NCT00559338	Phase 4	COMPLETED	Impact of Nesiritide Infusion for Decompensated Heart Failure in the Emergency Department
NCT00606775	Phase 4	UNKNOWN	The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy
NCT00658203	Phase 4	COMPLETED	Clinical Evaluation on Advanced Resynchronization
NCT00701220	Phase 4	COMPLETED	Statin Therapy for Ischemic and Nonischemic Cardiomyopathy
NCT00800761	Phase 4	COMPLETED	Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major
NCT00806390	Phase 4	TERMINATED	Prevention of Anthracycline or Trastuzumab Induced Cardiomyopathy by Metoprolol
NCT01006473	Phase 4	COMPLETED	Exercise Training in Chagas Cardiomyopathy
NCT01261065	Phase 4	COMPLETED	Mechanisms of Improvement With Beta-Blocker Treatment in Heart Failure
NCT01345188	Phase 4	COMPLETED	Ranolazine in Ischemic Cardiomyopathy
NCT01868841	Phase 4	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	Phase 4	UNKNOWN	Effects of Levosimendan, Milrinone and Norepinephrine on Left and Right Ventricular Function in Septic Shock
NCT03228823	Phase 4	UNKNOWN	Prospective Assessment of Premature Ventricular Contractions Suppression in Cardiomyopathy(PAPS)
NCT04323852	Phase 4	COMPLETED	Can Vitamin D Reduce Heart Muscle Damage After Bypass Surgery?
NCT05034432	Phase 4	RECRUITING	The PIVATAL Study -Study of Ventricular Arrhythmia (VTA) Ablation in Left Ventricular Assist Device (LVAD) Patients
NCT05371496	Phase 4	COMPLETED	Cardiac and Metabolic Effects of Semaglutide in Heart Failure With Preserved Ejection Fraction
NCT05718128	Phase 4	RECRUITING	Clinical Study of Endocardial Myocardial Biopsy
NCT06964464	Phase 4	RECRUITING	Comparative Effectiveness of Carvedilol Versus Metoprolol Succinate in Heart Failure Patients With an Implantable Cardioverter Defibrillator
NCT00170183	Phase 3	COMPLETED	Brain Natriuretic Peptide (BNP) to Preserve Renal Function in Hospitalized Patients With Heart Failure
NCT00270387	Phase 3	COMPLETED	A Study of Short-Term Outcomes and Economic Impact For Patients With Worsening Congestive Heart Failure When Natrecor (Nesiritide) is Added to Standard-Care Therapy, Compared to Administration of Placebo With Standard-Care Therapy
NCT00321295	Phase 3	COMPLETED	Biventricular Pacing In Patients With Left Ventricular Dysfunction After Cardiovascular Surgery
NCT00483197	Phase 3	UNKNOWN	VentrAssistTM LVAD as a Bridge to Cardiac Transplantation - Pivotal Trial
NCT00490321	Phase 3	UNKNOWN	VentrAssistTM LVAD for the Treatment of Advanced Heart Failure - Destination Therapy
NCT00626028	Phase 3	COMPLETED	Comparison of Inhaled Nitric Oxide and Oxygen in Participants Reactivity During Acute Pulmonary Vasodilator Testing
NCT01013714	Phase 3	UNKNOWN	Cardiac Sympathetic Denervation for Prevention of Ventricular Tachyarrhythmias
NCT01217827	Phase 3	COMPLETED	Implantable Cardioverter-Defibrillator Use in the VA System
NCT01648634	Phase 3	COMPLETED	Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy
NCT02924285	Phase 3	COMPLETED	Catheter Ablation Versus Amiodarone for Therapy of Premature Ventricular Contractions in Patients With Structural Heart Disease
NCT03860935	Phase 3	COMPLETED	Efficacy and Safety of AG10 in Subjects With Transthyretin Amyloid Cardiomyopathy
NCT04166331	Phase 3	COMPLETED	Adjunctive DobutAmine in sePtic Cardiomyopathy With Tissue Hypoperfusion
NCT05175066	Phase 3	COMPLETED	Bisoprolol Administration to Prevent Anthracycline-induced Cardiotoxicity
NCT05237323	Phase 3	COMPLETED	Micophenolate Mofetil Versus Azathioprine in Myocarditis
NCT06158698	Phase 3	RECRUITING	CMP-MYTHiC Trial and Registry - CardioMyoPathy With MYocarditis THerapy With Colchicine
NCT06563895	Phase 3	RECRUITING	Acoramidis Transthyretin Amyloidosis Prevention Trial in the Young (ACT-EARLY) Study in Asymptomatic Carriers of a Pathogenic TTR Variant
NCT06846086	Phase 3	RECRUITING	Cardioprotective Effects of Melatonin in Patients With Cardiomyopathy
NCT07116473	Phase 3	NOT_YET_RECRUITING	To Evaluate the Long-term Safety and Tolerability of Acoramidis in Participants With Newly Diagnosed ATTR-CM (ACT-EARLY OLE)
NCT02033278	Phase 2	TERMINATED	Infusion Intracoronary of Mononuclear Autologous Adult no Expanded Stem Cells of Bone Marrow on Functional Recovery in Patients With Idiopathic Dilated Cardiomyopathy and Heart Failure.
NCT00185250	Phase 2	COMPLETED	Betaferon/ Betaseron (Interferon Beta-1b) in Patients With Chronic Viral Cardiomyopathy
NCT00490347	Phase 2	COMPLETED	VentrAssistTM LVAD as a Bridge to Cardiac Transplantation - Feasibility Trial
NCT00694161	Phase 2	COMPLETED	The Effects Of Fx-1006A On Transthyretin Stabilization And Clinical Outcome Measures In Patients With V122I Or Wild-Type TTR Amyloid Cardiomyopathy
NCT01102140	Phase 2	TERMINATED	The Impact of Pomegranate Extract on Chronic Cardiomyopathy Complicated by Renal Insufficiency (ImPrOVE): a Pilot Study
NCT01442129	Phase 2	COMPLETED	The Effect of Intramyocardial Injection of Mesenchymal Precursor Cells on Myocardial Function in Patients Undergoing LVAD Implantation
NCT01636570	Phase 2	COMPLETED	Vitamin D3 Supplementation for Heart Failure Patients
NCT01643330	Phase 2	COMPLETED	A Study of Genetically Targeted Enzyme Replacement Therapy for Advanced Heart Failure
NCT02016365	Phase 2	COMPLETED	Safety and Efficacy Study of Doxycycline/UrsoDeoxyCholicAcid on Disease Progression in ATTR Amyloidosis
NCT02362646	Phase 2	COMPLETED	Safety & Efficacy of Intramyocardial Injection of Mesenchymal Precursor Cells on Myocardial Function in LVAD Recipients
NCT02485938	Phase 2	COMPLETED	HOPE-Duchenne (Halt cardiomyOPathy progrEssion in Duchenne)
NCT02681913	Phase 2	UNKNOWN	Adenosine as an Adjunct to Blood Cardioplegia
NCT04304560	Phase 2	UNKNOWN	Value of SGLT2 Inhibitor (Dapagliflozin) as an Added Therapy in Diabetic Patients With Heart Failure With Reduced Ejection Fraction; Randomized Controlled Clinical Trial
NCT06080074	Phase 2	RECRUITING	Multicenter Trial of ECMO in Children With Severe Cardiac Failure Using the Cardiohelp System
NCT00696410	Phase 1	COMPLETED	The Impact of Zinc Supplementation on Left Ventricular Function in Nonischemic Cardiomyopathy
NCT02077010	Phase 1	COMPLETED	Nebulized Inhaled Milrinone in a Hospitalized Advanced Heart Failure Population
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