PDLIM3

Summary

PDLIM3 (PDZ and LIM domain 3, HGNC:20767) is a protein-coding gene on chromosome 4q35.1, encoding PDZ and LIM domain protein 3 (Q53GG5). May play a role in the organization of actin filament arrays within muscle cells.

The protein encoded by this gene contains a PDZ domain and a LIM domain, indicating that it may be involved in cytoskeletal assembly. In support of this, the encoded protein has been shown to bind the spectrin-like repeats of alpha-actinin-2 and to colocalize with alpha-actinin-2 at the Z lines of skeletal muscle. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Aberrant alternative splicing of this gene may play a role in myotonic dystrophy.

Source: NCBI Gene 27295 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hypertrophic cardiomyopathy (Limited, ClinGen) — +1 more curated relationship
• Clinical variants (ClinVar): 500 total — 1 likely-pathogenic
• Phenotypes (HPO): 2
• MANE Select transcript: NM_014476

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20767
Approved symbol	PDLIM3
Name	PDZ and LIM domain 3
Location	4q35.1
Locus type	gene with protein product
Status	Approved
Aliases	ALP
Ensembl gene	ENSG00000154553
Ensembl biotype	protein_coding
OMIM	605889
Entrez	27295

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 6 retained_intron, 4 protein_coding, 3 nonsense_mediated_decay

ENST00000284767, ENST00000284770, ENST00000284771, ENST00000504011, ENST00000504355, ENST00000505886, ENST00000512293, ENST00000512380, ENST00000514142, ENST00000514308, ENST00000515261, ENST00000620787, ENST00000643009

RefSeq mRNA: 4 — MANE Select: NM_014476 NM_001114107, NM_001257962, NM_001257963, NM_014476

CCDS: CCDS3844, CCDS47172, CCDS75218, CCDS75219

Canonical transcript exons

ENST00000284767 — 8 exons

Exon	Start	End
ENSE00003484970	185525020	185525171
ENSE00003552761	185504475	185504586
ENSE00003567254	185506522	185506652
ENSE00003586135	185508299	185508562
ENSE00003620762	185523362	185523446
ENSE00003754284	185514270	185514337
ENSE00003903438	185535342	185535507
ENSE00003903798	185500660	185502483

Expression profiles

Bgee: expression breadth ubiquitous, 264 present calls, max score 99.86.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.5384 / max 5526.4286, expressed in 1043 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
55268	25.3887	1027
55267	1.1192	540
55269	0.0306	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gluteal muscle	UBERON:0002000	99.86	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.86	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.86	gold quality
biceps brachii	UBERON:0001507	99.84	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.84	gold quality
triceps brachii	UBERON:0001509	99.80	gold quality
gastrocnemius	UBERON:0001388	99.78	gold quality
body of tongue	UBERON:0011876	99.61	gold quality
diaphragm	UBERON:0001103	99.56	gold quality
right coronary artery	UBERON:0001625	99.56	gold quality
muscle of leg	UBERON:0001383	99.51	gold quality
muscle organ	UBERON:0001630	99.45	gold quality
skeletal muscle organ	UBERON:0014892	99.45	gold quality
lower esophagus muscularis layer	UBERON:0035833	99.45	gold quality
ascending aorta	UBERON:0001496	99.43	gold quality
lower esophagus	UBERON:0013473	99.43	gold quality
skeletal muscle tissue	UBERON:0001134	99.42	gold quality
mucosa of stomach	UBERON:0001199	99.42	gold quality
thoracic aorta	UBERON:0001515	99.42	gold quality
vastus lateralis	UBERON:0001379	99.40	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	99.36	gold quality
aorta	UBERON:0000947	99.33	gold quality
descending thoracic aorta	UBERON:0002345	99.32	gold quality
right atrium auricular region	UBERON:0006631	99.32	gold quality
popliteal artery	UBERON:0002250	99.29	gold quality
tibial artery	UBERON:0007610	99.29	gold quality
saphenous vein	UBERON:0007318	99.26	gold quality
artery	UBERON:0001637	99.19	gold quality
quadriceps femoris	UBERON:0001377	99.17	gold quality
left coronary artery	UBERON:0001626	99.09	gold quality

Single-cell (SCXA)

Detected in 14 experiment(s), a significant marker in 13.

Experiment	Marker?	Max mean expression
E-ANND-2	yes	4491.03
E-GEOD-124472	yes	1015.31
E-HCAD-11	yes	914.92
E-HCAD-13	yes	605.93
E-MTAB-10287	yes	57.57
E-HCAD-1	yes	36.77
E-MTAB-5061	yes	27.12
E-MTAB-8410	yes	24.90
E-GEOD-81547	yes	21.56
E-GEOD-93593	yes	13.10
E-MTAB-10553	yes	6.03
E-GEOD-130148	yes	5.13
E-ENAD-20	no	880.83
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ELF4

miRNA regulators (miRDB)

68 targeting PDLIM3, 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-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-4760-5P	99.80	69.88	1619
HSA-MIR-3913-5P	99.78	67.26	968
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-548O-3P	99.74	69.30	2228
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-567	99.63	68.57	1219
HSA-MIR-8061	99.63	69.44	1411

Literature-anchored findings (GeneRIF, showing 7)

• ZASP-like motif in actinin-associated LIM protein is required for interaction with the alpha-actinin rod and for targeting to the muscle Z-line (PMID:15084604)
• Mutations in PDLIM3 and MYOZ1, encoding myocyte Z line proteins, do not play any significant role in the genetic etiology of idiopathic DCM. (PMID:17254821)
• mutations in PDLIM3 and MYPN are infrequent in hypertrophic cardiomyopathies (PMID:20801532)
• two abnormal splicing events for actinin-associated LIM protein 3 (PDLIM3/ALP) and fibronectin 1 (FN1) in the skeletal muscles of myotonic dystrophy type 1 patients. (PMID:21549096)
• This study confirmed that PDLIM3 as genetic modifiers of age at onset of Alzheimer disease. (PMID:26214276)
• Novel polymorphisms in PDLIM3 and PDLIM5 gene encoding Z-line proteins increase risk of idiopathic dilated cardiomyopathy. (PMID:31424159)
• Comprehensive Analysis of PDLIM3 Expression Profile, Prognostic Value, and Correlations with Immune Infiltrates in Gastric Cancer. (PMID:35647201)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	pdlim3a	ENSDARG00000011023
danio_rerio	pdlim3b	ENSDARG00000014248
mus_musculus	Pdlim3	ENSMUSG00000031636
rattus_norvegicus	Pdlim3	ENSRNOG00000012658

Paralogs (7): PDLIM1 (ENSG00000107438), PDLIM2 (ENSG00000120913), LDB3 (ENSG00000122367), PDLIM4 (ENSG00000131435), PDLIM5 (ENSG00000163110), PDLIM7 (ENSG00000196923), PRICKLE4 (ENSG00000278224)

Protein

Protein identifiers

PDZ and LIM domain protein 3 — Q53GG5 (reviewed: Q53GG5)

Alternative names: Actinin-associated LIM protein, Alpha-actinin-2-associated LIM protein

All UniProt accessions (5): Q53GG5, A0A087WYF8, A0A2R8Y6L7, A0A2U3TZH4, D6RAF1

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in the organization of actin filament arrays within muscle cells.

Subunit / interactions. Interacts with ACTN2. Forms a heterodimer with PDLIM4 (via LIM domain).

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

Tissue specificity. Isoform 1 is highly expressed in differentiated skeletal muscle. Isoform 2 is heart-specific.

Isoforms (3)

UniProt ID	Names	Canonical?
Q53GG5-1	1, ALP-SK	yes
Q53GG5-2	2, ALP-H
Q53GG5-3	3

RefSeq proteins (4): NP_001107579, NP_001244891, NP_001244892, NP_055291* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001478	PDZ	Domain
IPR001781	Znf_LIM	Domain
IPR006643	Zasp-like_motif	Domain
IPR031847	PDLI1-4/Zasp-like_mid	Domain
IPR036034	PDZ_sf	Homologous_superfamily
IPR050604	PDZ-LIM_domain	Family

Pfam: PF00412, PF00595, PF15936

UniProt features (15 total): sequence conflict 5, modified residue 3, splice variant 3, domain 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q53GG5-F1	66.98	0.21

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 (3): 18, 93, 264

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 172 (showing top): ATF_B, AAGCAAT_MIR137, WALLACE_PROSTATE_CANCER_RACE_UP, SHEPARD_CRASH_AND_BURN_MUTANT_UP, CREBP1_Q2, BROWNE_HCMV_INFECTION_16HR_UP, HUMMERICH_SKIN_CANCER_PROGRESSION_DN, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_DN, AML_Q6, BLALOCK_ALZHEIMERS_DISEASE_UP, SASSON_RESPONSE_TO_FORSKOLIN_DN, GOBP_ACTIN_FILAMENT_ORGANIZATION, HFH8_01, MODULE_99

GO Biological Process (4): actin filament organization (GO:0007015), heart development (GO:0007507), actin cytoskeleton organization (GO:0030036), muscle structure development (GO:0061061)

GO Molecular Function (6): actin binding (GO:0003779), structural constituent of muscle (GO:0008307), metal ion binding (GO:0046872), muscle alpha-actinin binding (GO:0051371), protein binding (GO:0005515), cytoskeletal protein binding (GO:0008092)

GO Cellular Component (7): stress fiber (GO:0001725), cytosol (GO:0005829), adherens junction (GO:0005912), Z disc (GO:0030018), filamentous actin (GO:0031941), cytoplasm (GO:0005737), actin cytoskeleton (GO:0015629)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
actin cytoskeleton organization	1
supramolecular fiber organization	1
animal organ development	1
circulatory system development	1
cytoskeleton organization	1
actin filament-based process	1
anatomical structure development	1
cytoskeletal protein binding	1
structural molecule activity	1
cation binding	1
alpha-actinin binding	1
binding	1
protein binding	1
actomyosin	1
contractile actin filament bundle	1
cytoplasm	1
cell-cell junction	1
I band	1
actin filament	1
protein-containing complex	1
intracellular anatomical structure	1
cytoskeleton	1

Protein interactions and networks

STRING

1490 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PDLIM3	ACTN2	P35609	922
PDLIM3	TTN	Q8WZ42	710
PDLIM3	CSRP3	P50461	620
PDLIM3	FLNC	Q14315	619
PDLIM3	TCAP	O15273	583
PDLIM3	MYOZ1	Q9NP98	577
PDLIM3	MYOZ2	Q9NPC6	577
PDLIM3	MYPN	Q86TC9	542
PDLIM3	SORBS2	O94875	533
PDLIM3	ACTA1	P02568	532
PDLIM3	RBM20	Q5T481	524
PDLIM3	MYBPC3	Q14896	493
PDLIM3	JPH2	Q9BR39	490
PDLIM3	CACNG1	Q06432	482
PDLIM3	MYOM1	P52179	479

IntAct

48 interactions, top by confidence:

A	B	Type	Score
PDLIM3	ACTN2	psi-mi:“MI:0915”(physical association)	0.740
ACTN2	PDLIM3	psi-mi:“MI:0915”(physical association)	0.740
FRMPD4	PDLIM3	psi-mi:“MI:0407”(direct interaction)	0.440
PDLIM3	ABCC4	psi-mi:“MI:0407”(direct interaction)	0.440
ARHGEF16	PDLIM3	psi-mi:“MI:0407”(direct interaction)	0.440
ASIC3	PDLIM3	psi-mi:“MI:0407”(direct interaction)	0.440
ATP2B4	PDLIM3	psi-mi:“MI:0407”(direct interaction)	0.440
CYSLTR2	PDLIM3	psi-mi:“MI:0407”(direct interaction)	0.440
PDLIM3	DGKK	psi-mi:“MI:0407”(direct interaction)	0.440
DGKZ	PDLIM3	psi-mi:“MI:0407”(direct interaction)	0.440
DOCK4	PDLIM3	psi-mi:“MI:0407”(direct interaction)	0.440
FZD7	PDLIM3	psi-mi:“MI:0407”(direct interaction)	0.440
TAMALIN	PDLIM3	psi-mi:“MI:0407”(direct interaction)	0.440
E6	PDLIM3	psi-mi:“MI:0407”(direct interaction)	0.440
ORF putative E6	PDLIM3	psi-mi:“MI:0407”(direct interaction)	0.440
KCNA5	PDLIM3	psi-mi:“MI:0407”(direct interaction)	0.440
KIR3DL3	PDLIM3	psi-mi:“MI:0407”(direct interaction)	0.440
MAP2K2	PDLIM3	psi-mi:“MI:0407”(direct interaction)	0.440
PBK	PDLIM3	psi-mi:“MI:0407”(direct interaction)	0.440
RALBP1	PDLIM3	psi-mi:“MI:0407”(direct interaction)	0.440
RASSF6	PDLIM3	psi-mi:“MI:0407”(direct interaction)	0.440
SLC15A5	PDLIM3	psi-mi:“MI:0407”(direct interaction)	0.440
SLCO1C1	PDLIM3	psi-mi:“MI:0407”(direct interaction)	0.440
TJP2	PDLIM3	psi-mi:“MI:0407”(direct interaction)	0.440
Tax	PDLIM3	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (30): PDLIM3 (Two-hybrid), PDLIM3 (Affinity Capture-MS), PDLIM3 (Reconstituted Complex), PDLIM3 (Two-hybrid), PDLIM3 (Affinity Capture-MS), PDLIM3 (Proximity Label-MS), PDLIM3 (Proximity Label-MS), ACTN2 (Two-hybrid), FHL1 (Two-hybrid), MYOT (Two-hybrid), MYOZ2 (Two-hybrid), MYOZ3 (Two-hybrid), MYPN (Two-hybrid), PALLD (Two-hybrid), PDLIM3 (Two-hybrid)

ESM2 similar proteins: A1Z7T0, B7WN72, E7F187, F1M3L7, O15085, O35889, O43150, O75061, P34609, P51140, P55196, P70302, P84903, Q08509, Q12929, Q13586, Q18685, Q23658, Q27974, Q29EP6, Q53GG5, Q5R4H4, Q5RC07, Q5W7F2, Q66HS7, Q6DCV1, Q6GLJ6, Q6QGC0, Q6UXY1, Q7SIG6, Q80TZ3, Q80Y61, Q8C0D4, Q8CBY1, Q8IWW6, Q8R4H2, Q91738, Q95LV5, Q95RG8, Q99K30

Diamond homologs: A0A1L8F1M4, A0M8R4, A0M8S5, A0M8U6, A1Z6W3, A8WH69, O42565, O43900, O54785, O70209, P47226, P49023, P49024, P50464, P53666, P53667, P53668, P53669, P53670, P53671, Q00PK1, Q07DW1, Q07DX3, Q07DY3, Q07DZ4, Q07E27, Q07E40, Q07E51, Q09YI0, Q09YJ2, Q09YK3, Q09YL5, Q09YN8, Q108U9, Q14192, Q174I2, Q17QE2, Q28FG2, Q292U2, Q292U5

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 36 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.

GO biological processes:

GO term	Partners	Fold	FDR
transmembrane transport	5	26.3×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	281
Likely benign	148
Benign	38

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
997081	GRCh37/hg19 4q34.3-35.2(chr4:179554876-190916678)	Likely pathogenic

SpliceAI

1257 predictions. Top by Δscore:

Variant	Effect	Δscore
4:185502479:CACCG:C	acceptor_gain	1.0000
4:185502480:ACCG:A	acceptor_gain	1.0000
4:185502481:CCG:C	acceptor_gain	1.0000
4:185502481:CCGC:C	acceptor_gain	1.0000
4:185502482:CG:C	acceptor_gain	1.0000
4:185502482:CGC:C	acceptor_gain	1.0000
4:185502483:GC:G	acceptor_loss	1.0000
4:185502484:C:A	acceptor_loss	1.0000
4:185502484:C:CC	acceptor_gain	1.0000
4:185504468:AACTT:A	donor_loss	1.0000
4:185504470:CTTA:C	donor_loss	1.0000
4:185504473:A:AC	donor_gain	1.0000
4:185504473:A:T	donor_loss	1.0000
4:185504474:C:CC	donor_gain	1.0000
4:185504474:CA:C	donor_gain	1.0000
4:185504474:CACT:C	donor_gain	1.0000
4:185504474:CACTA:C	donor_gain	1.0000
4:185504486:C:CA	donor_gain	1.0000
4:185504583:TCAT:T	acceptor_gain	1.0000
4:185504584:CAT:C	acceptor_gain	1.0000
4:185504584:CATC:C	acceptor_gain	1.0000
4:185504586:TC:T	acceptor_loss	1.0000
4:185504587:C:CC	acceptor_gain	1.0000
4:185504587:CTG:C	acceptor_loss	1.0000
4:185504588:T:C	acceptor_loss	1.0000
4:185523442:CTCCC:C	acceptor_gain	1.0000
4:185523444:CCC:C	acceptor_gain	1.0000
4:185523444:CCCCT:C	acceptor_loss	1.0000
4:185523445:CC:C	acceptor_gain	1.0000
4:185523445:CCC:C	acceptor_gain	1.0000

AlphaMissense

2386 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:185502366:G:C	C341W	1.000
4:185502367:C:G	C341S	1.000
4:185502367:C:T	C341Y	1.000
4:185502368:A:G	C341R	1.000
4:185502368:A:T	C341S	1.000
4:185502409:A:G	L327P	1.000
4:185502409:A:T	L327H	1.000
4:185502429:A:C	C320W	1.000
4:185502430:C:G	C320S	1.000
4:185502430:C:T	C320Y	1.000
4:185502431:A:G	C320R	1.000
4:185502431:A:T	C320S	1.000
4:185504499:C:G	C294S	1.000
4:185504500:A:G	C294R	1.000
4:185504500:A:T	C294S	1.000
4:185525032:A:G	L78P	1.000
4:185535379:C:T	G19E	1.000
4:185535390:G:C	F15L	1.000
4:185535390:G:T	F15L	1.000
4:185535391:A:G	F15S	1.000
4:185535392:A:G	F15L	1.000
4:185535398:A:G	W13R	1.000
4:185535398:A:T	W13R	1.000
4:185502356:C:G	A345P	0.999
4:185502367:C:A	C341F	0.999
4:185502371:A:C	Y340D	0.999
4:185502395:A:C	Y332D	0.999
4:185502420:G:C	C323W	0.999
4:185502421:C:G	C323S	0.999
4:185502421:C:T	C323Y	0.999

dbSNP variants (sampled 300 via entrez): RS1000003378 (4:185535018 T>A), RS1000088103 (4:185525800 G>C), RS1000176885 (4:185529268 C>T), RS1000219862 (4:185507742 C>T), RS1000340737 (4:185523558 T>C), RS1000396809 (4:185513755 C>A), RS1000439760 (4:185502073 CA>C), RS1000473773 (4:185520228 G>A), RS1000523172 (4:185535254 C>T), RS1000633580 (4:185530773 C>G), RS1000708897 (4:185514782 T>C), RS1000766216 (4:185519915 G>C), RS1000806291 (4:185529319 T>TG), RS1000852509 (4:185514107 G>C), RS1000933182 (4:185535425 T>C,G)

Disease associations

OMIM: gene MIM:605889 | disease phenotypes: MIM:192600

GenCC curated gene-disease

Disease	Classification	Inheritance
hypertrophic cardiomyopathy	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (2)

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

Disease	Classification	Inheritance
hypertrophic cardiomyopathy	Limited	AD
dilated cardiomyopathy	Disputed	AD

Mondo (5): dilated cardiomyopathy (MONDO:0005021), hypertrophic cardiomyopathy (MONDO:0005045), familial hypertrophic cardiomyopathy (MONDO:0024573), familial cardiomyopathy (MONDO:0005217), cardiomyopathy (MONDO:0004994)

Orphanet (5): Rare hypertrophic cardiomyopathy (Orphanet:217569), Dilated cardiomyopathy (Orphanet:217604), Rare familial disorder with hypertrophic cardiomyopathy (Orphanet:99739), Rare cardiomyopathy (Orphanet:167848), NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy (Orphanet:155)

HPO phenotypes

2 total (2 of 2 shown, HPO-id order):

HPO	Term
HP:0001644	Dilated cardiomyopathy
HP:0001639	Hypertrophic cardiomyopathy

GWAS associations

0 associations (top):

MeSH disease descriptors (4)

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
D024741	Cardiomyopathy, Hypertrophic, Familial	C14.280.238.100.500; C14.280.484.048.750.070.160.500; C16.320.160

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	8
Benzo(a)pyrene	increases expression, increases methylation	4
Doxorubicin	increases expression	3
Estradiol	affects expression, affects cotreatment, increases expression	3
bisphenol A	affects expression	2
sodium arsenite	affects methylation, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
FR900359	affects phosphorylation	1
methylmercuric chloride	increases expression	1
methyleugenol	increases expression	1
trichostatin A	increases expression	1
trimellitic anhydride	decreases expression	1
butyraldehyde	increases expression	1
benzo(e)pyrene	increases methylation	1
nickel sulfate	increases expression	1
vanadyl sulfate	increases expression	1
cylindrospermopsin	increases expression	1
CGP 52608	affects binding, increases reaction	1
entinostat	affects cotreatment, increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
incobotulinumtoxinA	decreases expression	1
Decitabine	affects expression	1
Sunitinib	decreases expression	1
Arsenic	affects methylation	1
Bleomycin	decreases expression	1
Cisplatin	affects expression	1
Coumestrol	affects reaction, affects cotreatment, increases expression	1
Cytarabine	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00879060	PHASE4	COMPLETED	Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy
NCT01721967	PHASE4	COMPLETED	Ranolazine for the Treatment of Chest Pain in HCM Patients
NCT02948998	PHASE4	UNKNOWN	Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy
NCT03249272	PHASE4	TERMINATED	Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve
NCT04133532	PHASE4	COMPLETED	Effect of Metoprolol in Post Alcohol Septal Ablation Patients With Hypertrophic Cardiomyopathy
NCT06401343	PHASE4	RECRUITING	Use of SGLT2i in noHCM With HFpEF
NCT07103655	PHASE4	NOT_YET_RECRUITING	The Therapeutic Value of Mavacamten in Hypertrophic Cardiomyopathy With Mid-to-Apical Left Ventricular Obstruction
NCT07600177	PHASE4	RECRUITING	Mavacamten to Aficamten Transition in Patients With Obstructive Hypertrophic Cardiomyopathy
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
NCT00317967	PHASE3	COMPLETED	Study to Determine if Atorvastatin Reduces Size and Stiffness of Muscle in the Left Ventricle of the Heart
NCT00698074	PHASE3	UNKNOWN	Diastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy
NCT00821353	PHASE3	COMPLETED	Antiarrhythmic Therapy Versus Catheter Ablation for Atrial Fibrillation in Hypertrophic Cardiomyopathy
NCT02431221	PHASE3	WITHDRAWN	Efficacy, Safety, and Tolerability of Perhexiline in Subjects With Hypertrophic Cardiomyopathy and Heart Failure
NCT03470545	PHASE3	COMPLETED	Clinical Study to Evaluate Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy
NCT05174416	PHASE3	COMPLETED	A Study to Evaluate the Efficacy and Safety of Mavacamten in Chinese Adults With Symptomatic Obstructive HCM
NCT05182658	PHASE3	ACTIVE_NOT_RECRUITING	Empagliflozin in Hypertrophic Cardiomyopathy
NCT05186818	PHASE3	COMPLETED	Phase 3 Trial to Evaluate the Efficacy and Safety of Aficamten Compared to Placebo in Adults With Symptomatic oHCM
NCT05767346	PHASE3	COMPLETED	Phase 3 Trial to Evaluate the Efficacy and Safety of Aficamten Compared to Metoprolol Succinate in Adults With Symptomatic oHCM
NCT06116968	PHASE3	COMPLETED	An Open-Label Study of Aficamten for Chinese Patients With Symptomatic oHCM
NCT06873828	PHASE3	NOT_YET_RECRUITING	Evaluation of the Efficacy and Safety of Wearable ECG (AT-Patch) in Patients With Hypertrophic Cardiomyopathy Requiring 48-Hour Holter MonitoringEvaluation of the Efficacy and Safety of Wearable ECG (AT-Patch) in Patients With Hypertrophic Cardiomyopathy Requiring 48-Hour Holter Monitoring
NCT07021976	PHASE3	RECRUITING	A Phase III Trial of HRS-1893 in Patients With Obstructive Hypertrophic Cardiomyopathy
NCT07023341	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Learn More About How Well Aficamten Works in Japanese Participants With Symptomatic Obstructive Hypertrophic Cardiomyopathy
NCT07202897	PHASE3	NOT_YET_RECRUITING	LA-HCM Study : Rivaroxaban for Antithrombotic Prevention in Hypertrophic Cardiomyopathy Patients With Abnormal Left Atrial Strain.
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
NCT00001631	PHASE2	COMPLETED	Study of Blood Flow in Heart Muscle
NCT00001894	PHASE2	COMPLETED	A Comparison of Two Treatments: Pacemaker and Percutaneous Transluminal Septal Ablation for Hypertrophic Cardiomyopathy