MYL3

Summary

MYL3 (myosin light chain 3, HGNC:7584) is a protein-coding gene on chromosome 3p21.31, encoding Myosin light chain 3 (P08590). Regulatory light chain of myosin.

MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy.

Source: NCBI Gene 4634 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hypertrophic cardiomyopathy (Definitive, ClinGen) — +3 more curated relationships
• GWAS associations: 9
• Clinical variants (ClinVar): 507 total — 3 likely-pathogenic
• Phenotypes (HPO): 16
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_000258

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7584
Approved symbol	MYL3
Name	myosin light chain 3
Location	3p21.31
Locus type	gene with protein product
Status	Approved
Aliases	CMH8, VLC1, MLC1V, MLC1SB
Ensembl gene	ENSG00000160808
Ensembl biotype	protein_coding
OMIM	160790
Entrez	4634

Gene structure

Transcript identifiers

Ensembl transcripts: 53 — 50 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000292327, ENST00000395869, ENST00000431168, ENST00000653454, ENST00000654597, ENST00000655244, ENST00000662933, ENST00000664891, ENST00000713932, ENST00000713933, ENST00000713934, ENST00000877119, ENST00000877120, ENST00000877121, ENST00000877122, ENST00000877123, ENST00000877124, ENST00000877125, ENST00000877126, ENST00000877127, ENST00000877128, ENST00000877129, ENST00000877130, ENST00000877131, ENST00000877132, ENST00000877133, ENST00000877134, ENST00000877135, ENST00000877136, ENST00000877137, ENST00000877138, ENST00000877139, ENST00000877140, ENST00000957828, ENST00000957829, ENST00000957830, ENST00000957831, ENST00000957832, ENST00000957833, ENST00000957834, ENST00000957835, ENST00000957836, ENST00000957837, ENST00000957838, ENST00000957839, ENST00000957840, ENST00000957841, ENST00000957842, ENST00000957843, ENST00000957844, ENST00000957845, ENST00000957846, ENST00000957847

RefSeq mRNA: 6 — MANE Select: NM_000258 NM_000258, NM_001406937, NM_001406938, NM_001406939, NM_001406940, NM_001406941

CCDS: CCDS2746

Canonical transcript exons

ENST00000292327 — 7 exons

Exon	Start	End
ENSE00001054619	46860676	46860825
ENSE00001054620	46860960	46860987
ENSE00001295713	46858231	46858272
ENSE00001386746	46857872	46858101
ENSE00001674361	46863262	46863444
ENSE00001695188	46858384	46858461
ENSE00001756747	46859475	46859648

Expression profiles

Bgee: expression breadth ubiquitous, 198 present calls, max score 99.94.

FANTOM5 (CAGE): breadth broad, TPM avg 17.9450 / max 4333.6966, expressed in 392 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
42009	17.2761	144
42012	0.3374	200
42011	0.1794	109
42010	0.1521	31

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	99.94	gold quality
heart right ventricle	UBERON:0002080	99.84	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.79	gold quality
left ventricle myocardium	UBERON:0006566	99.71	gold quality
cardiac ventricle	UBERON:0002082	99.70	gold quality
heart left ventricle	UBERON:0002084	99.69	gold quality
triceps brachii	UBERON:0001509	99.60	gold quality
diaphragm	UBERON:0001103	99.49	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.49	gold quality
biceps brachii	UBERON:0001507	99.42	gold quality
vastus lateralis	UBERON:0001379	99.41	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.39	gold quality
gluteal muscle	UBERON:0002000	99.33	gold quality
quadriceps femoris	UBERON:0001377	99.01	gold quality
skeletal muscle tissue	UBERON:0001134	98.78	gold quality
gastrocnemius	UBERON:0001388	98.12	gold quality
right atrium auricular region	UBERON:0006631	97.84	gold quality
muscle organ	UBERON:0001630	97.82	gold quality
skeletal muscle organ	UBERON:0014892	97.81	gold quality
tibialis anterior	UBERON:0001385	97.59	gold quality
muscle of leg	UBERON:0001383	97.35	gold quality
body of tongue	UBERON:0011876	97.34	gold quality
cardiac atrium	UBERON:0002081	96.57	gold quality
heart	UBERON:0000948	96.36	gold quality
deltoid	UBERON:0001476	96.21	gold quality
muscle tissue	UBERON:0002385	94.99	gold quality
vena cava	UBERON:0004087	92.77	gold quality
myocardium	UBERON:0002349	91.69	gold quality
metanephros cortex	UBERON:0010533	90.34	gold quality
tongue	UBERON:0001723	88.93	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

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GATA5

miRNA regulators (miRDB)

18 targeting MYL3, 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-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-4786-3P	99.36	68.35	1390
HSA-MIR-6731-5P	99.28	67.42	2375
HSA-MIR-8085	99.28	67.56	2362
HSA-MIR-6734-3P	99.15	66.27	1627
HSA-MIR-939-3P	98.97	65.07	2347
HSA-MIR-5008-5P	98.42	65.87	1019
HSA-MIR-6773-3P	98.17	65.51	1213
HSA-MIR-30C-1-3P	97.80	66.36	1499
HSA-MIR-30C-2-3P	97.80	66.45	1499
HSA-MIR-6788-5P	97.80	66.41	1532
HSA-MIR-7112-3P	97.67	68.77	948
HSA-MIR-4640-5P	97.42	66.33	1543
HSA-MIR-4726-5P	97.24	65.67	1299
HSA-MIR-6089	89.72	61.35	324

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 8)

• mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations (PMID:11748309)
• N-fragment is the binding domain of human ventricular LC1, whereas the C-fragment serves as a functional domain, which may be more involved in the modulation of the actin-activated ATPase activity of myosin (PMID:14516912)
• Cell-permeable peptide containing the 15 amino acid N-terminal peptide from human ventricular light chain-1 (VLC-1) enhanced myocardial contractility. (PMID:17717642)
• This is the first report of mutations in TPM1, MY L3, and MYL2 associated with primary, non-hypertrophied restrictive cardiomyopathy. (PMID:21823217)
• In Familial Hypertrophic Cardiomyopathy, the MYL3 Arg94His variant was associated with high disease penetrance and substantial interventricular septal hypertrophy (PMID:26443374)
• The study revealed a total of 10 variations - 7 in MYL2 and 3 in MYL3, of which 3 are novel variations observed exclusively in cases. MYL2 and MYL3 mutations are rare and the least cause of cardiomyopathies in Indians. (PMID:30605904)
• Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3. (PMID:33288880)
• Properties of Cardiac Myosin with Cardiomyopathic Mutations in Essential Light Chains. (PMID:36509720)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	myl4	ENSDARG00000011519
danio_rerio	cmlc1	ENSDARG00000032976
danio_rerio	zgc:163073	ENSDARG00000099712
mus_musculus	Myl3	ENSMUSG00000059741
rattus_norvegicus	Myl3	ENSRNOG00000020955
drosophila_melanogaster	Mlc-c	FBGN0004687
caenorhabditis_elegans		WBGENE00010554
caenorhabditis_elegans		WBGENE00011734

Paralogs (4): MYL6 (ENSG00000092841), MYL1 (ENSG00000168530), MYL6B (ENSG00000196465), MYL4 (ENSG00000198336)

Protein

Protein identifiers

Myosin light chain 3 — P08590 (reviewed: P08590)

Alternative names: Cardiac myosin light chain 1, Myosin light chain 1, slow-twitch muscle B/ventricular isoform, Ventricular myosin alkali light chain, Ventricular myosin light chain 1, Ventricular/slow twitch myosin alkali light chain

All UniProt accessions (3): P08590, A0AAQ5BH63, E9PGV7

UniProt curated annotations — full annotation on UniProt →

Function. Regulatory light chain of myosin. Does not bind calcium.

Subunit / interactions. Myosin is a hexamer of 2 heavy chains and 4 light chains.

Post-translational modifications. The N-terminus is blocked. N-terminus is methylated by METTL11A/NTM1.

Disease relevance. Cardiomyopathy, familial hypertrophic, 8 (CMH8) [MIM:608751] 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. Rarely, patients present a variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening. The disease is caused by variants affecting the gene represented in this entry.

RefSeq proteins (6): NP_000249, NP_001393866, NP_001393867, NP_001393868, NP_001393869, NP_001393870 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002048	EF_hand_dom	Domain
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR050230	CALM/Myosin/TropC-like	Family

UniProt features (20 total): modified residue 6, sequence variant 5, domain 3, compositionally biased region 2, initiator methionine 1, chain 1, sequence conflict 1, region of interest 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
8ACT	ELECTRON MICROSCOPY	3.6
8G4L	ELECTRON MICROSCOPY	6.4
5TBY	ELECTRON MICROSCOPY	20

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P08590-F1	88.89	0.80

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 (6): 127, 129, 130, 179, 2, 88

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-390522	Striated Muscle Contraction
R-HSA-397014	Muscle contraction

MSigDB gene sets: 198 (showing top): GOBP_CARDIAC_CHAMBER_DEVELOPMENT, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_CARDIAC_CHAMBER_MORPHOGENESIS, RORA1_01, TGACCTY_ERR1_Q2, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, GNF2_MYL3, GOBP_REGULATION_OF_STRIATED_MUSCLE_CONTRACTION, TCF4_Q5, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_REGULATION_OF_MUSCLE_CONTRACTION, GOBP_VENTRICULAR_CARDIAC_MUSCLE_TISSUE_DEVELOPMENT, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT

GO Biological Process (6): regulation of the force of heart contraction (GO:0002026), muscle contraction (GO:0006936), regulation of striated muscle contraction (GO:0006942), skeletal muscle tissue development (GO:0007519), ventricular cardiac muscle tissue morphogenesis (GO:0055010), cardiac muscle contraction (GO:0060048)

GO Molecular Function (5): cytoskeletal motor activity (GO:0003774), actin monomer binding (GO:0003785), calcium ion binding (GO:0005509), structural constituent of muscle (GO:0008307), myosin II heavy chain binding (GO:0032038)

GO Cellular Component (7): cytosol (GO:0005829), muscle myosin complex (GO:0005859), myosin II complex (GO:0016460), sarcomere (GO:0030017), A band (GO:0031672), I band (GO:0031674), myosin complex (GO:0016459)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Muscle contraction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
striated muscle contraction	2
sarcomere	2
regulation of heart contraction	1
regulation of biological quality	1
muscle system process	1
regulation of muscle contraction	1
striated muscle tissue development	1
skeletal muscle organ development	1
cardiac ventricle morphogenesis	1
ventricular cardiac muscle tissue development	1
cardiac muscle tissue morphogenesis	1
heart contraction	1
molecular_function	1
actin binding	1
metal ion binding	1
structural molecule activity	1
myosin heavy chain binding	1
myosin II binding	1
cytoplasm	1
myosin II complex	1
contractile muscle fiber	1
myosin complex	1
myofibril	1
actin cytoskeleton	1
protein-containing complex	1

Protein interactions and networks

STRING

2209 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYL3	MYH7	P12883	957
MYL3	MYBPC3	Q14896	923
MYL3	TNNI3	P19429	899
MYL3	ACTC1	P04270	896
MYL3	SUCO	Q9UBS9	890
MYL3	TNNT2	P45379	886
MYL3	TPM1	P09493	879
MYL3	MYH6	P13533	874
MYL3	PRKAG2	Q9UGJ0	870
MYL3	CSRP3	P50461	853
MYL3	MYLK2	Q9H1R3	794
MYL3	TTN	Q8WZ42	790
MYL3	TCAP	O15273	782
MYL3	TNNI1	P19237	717
MYL3	MYL2	P10916	713

IntAct

14 interactions, top by confidence:

A	B	Type	Score
YWHAZ	HSPB1	psi-mi:“MI:0914”(association)	0.680
YWHAZ	LMNA	psi-mi:“MI:0914”(association)	0.560
MYL3	MYH9	psi-mi:“MI:0914”(association)	0.530
MYL3	Mylk	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
MYL3	FTH1	psi-mi:“MI:0915”(physical association)	0.370
ATG101	MYL3	psi-mi:“MI:0915”(physical association)	0.370
CEBPD	EEF1D	psi-mi:“MI:0914”(association)	0.350
NOD2		psi-mi:“MI:0914”(association)	0.350
	MTMR11	psi-mi:“MI:0914”(association)	0.350
MECOM	ATP2A1	psi-mi:“MI:0914”(association)	0.350
MYL3	MYL4	psi-mi:“MI:0914”(association)	0.350
MYL3	LCN1	psi-mi:“MI:0914”(association)	0.350
MRPS23	MYH7B	psi-mi:“MI:0914”(association)	0.350

BioGRID (32): MYH10 (Affinity Capture-MS), MYO18A (Affinity Capture-MS), IQGAP1 (Affinity Capture-MS), MYH14 (Affinity Capture-MS), MYH9 (Affinity Capture-MS), MYL3 (Reconstituted Complex), MYL3 (Affinity Capture-MS), MYL3 (Affinity Capture-MS), MYH14 (Affinity Capture-MS), IQGAP1 (Affinity Capture-MS), MYO18A (Affinity Capture-MS), MYL4 (Affinity Capture-MS), MYL3 (Affinity Capture-MS), MYH9 (Affinity Capture-MS), MYH10 (Affinity Capture-MS)

ESM2 similar proteins: A0A125YHX7, A0JNJ5, F1RRT2, J7HCX7, O15182, O35648, P02600, P02602, P02604, P02605, P02606, P05434, P05976, P05977, P06742, P08590, P09540, P09541, P09542, P12829, P14649, P16409, P17209, P41044, P41208, P41209, P53014, P53441, P54213, P54357, P82159, P82160, P85100, Q06827, Q09196, Q12798, Q24621, Q24654, Q24756, Q27177

Diamond homologs: A0JNJ5, A2Y609, A3E3H0, A3E4D8, A3E4F9, A4UHC0, A8CEP3, A8I1Q0, F1RRT2, J7HCX7, O14008, O60041, O82018, O94739, P02597, P02598, P02600, P02602, P02604, P02605, P02606, P02607, P04353, P04464, P05419, P05976, P05977, P06742, P06787, P07290, P07291, P07462, P07463, P08053, P08590, P09540, P09541, P09542, P0DH95, P0DH96

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
CASP3	“down-regulates quantity by destabilization”	MYL3	cleavage

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	3
Uncertain significance	305
Likely benign	133
Benign	14

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
181444	NM_000258.3(MYL3):c.447G>T (p.Met149Ile)	Likely pathogenic
3373128	NM_000258.3(MYL3):c.81del (p.Glu28fs)	Likely pathogenic
635225	NM_000258.3(MYL3):c.64G>A (p.Ala22Thr)	Likely pathogenic

SpliceAI

1443 predictions. Top by Δscore:

Variant	Effect	Δscore
3:46858271:TG:T	acceptor_gain	1.0000
3:46858273:C:CC	acceptor_gain	1.0000
3:46858380:CCACC:C	donor_loss	1.0000
3:46858381:CACCT:C	donor_loss	1.0000
3:46858382:A:T	donor_loss	1.0000
3:46858383:C:A	donor_loss	1.0000
3:46858383:CCTT:C	donor_gain	1.0000
3:46858457:CTCAC:C	acceptor_gain	1.0000
3:46858458:TCAC:T	acceptor_gain	1.0000
3:46858459:CAC:C	acceptor_gain	1.0000
3:46858459:CACC:C	acceptor_gain	1.0000
3:46858460:AC:A	acceptor_gain	1.0000
3:46858460:ACC:A	acceptor_loss	1.0000
3:46858461:CC:C	acceptor_gain	1.0000
3:46858466:C:CT	acceptor_gain	1.0000
3:46858467:A:T	acceptor_gain	1.0000
3:46859468:C:A	donor_gain	1.0000
3:46859469:CCTCA:C	donor_loss	1.0000
3:46859470:CTCAC:C	donor_loss	1.0000
3:46859471:TCACC:T	donor_loss	1.0000
3:46859473:A:AC	donor_gain	1.0000
3:46859473:AC:A	donor_gain	1.0000
3:46859474:C:CC	donor_gain	1.0000
3:46859474:C:CG	donor_loss	1.0000
3:46859474:CC:C	donor_gain	1.0000
3:46859474:CCCAG:C	donor_gain	1.0000
3:46859478:G:C	donor_gain	1.0000
3:46859503:AGCAC:A	donor_gain	1.0000
3:46859528:T:A	donor_gain	1.0000
3:46859647:CT:C	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000639185 (3:46861026 A>T), RS1001644185 (3:46862380 G>C), RS1001675582 (3:46862653 G>A), RS1001732859 (3:46861650 G>A,C), RS1002071143 (3:46860309 G>A,T), RS1002185985 (3:46859948 G>A), RS1002240883 (3:46858188 G>A), RS1002615006 (3:46857857 G>A), RS1002650361 (3:46863675 C>T), RS1003189537 (3:46859329 A>G), RS1003633270 (3:46859702 C>A,T), RS1003634585 (3:46865080 G>C), RS1003686807 (3:46865370 T>G), RS1003744191 (3:46858879 G>A,C), RS1004231349 (3:46860970 C>A,T)

Disease associations

OMIM: gene MIM:160790 | disease phenotypes: MIM:608751, MIM:115210, MIM:192600, MIM:613694, MIM:105210, MIM:545000, MIM:156400, MIM:215045

GenCC curated gene-disease

Disease	Classification	Inheritance
hypertrophic cardiomyopathy 8	Definitive	Autosomal dominant
hypertrophic cardiomyopathy	Definitive	Autosomal dominant

ClinGen Gene-Disease Validity (3)

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

Disease	Classification	Inheritance
dilated cardiomyopathy	Disputed	AD
arrhythmogenic right ventricular cardiomyopathy	Limited	AD
hypertrophic cardiomyopathy	Definitive	AD

Mondo (13): cardiomyopathy (MONDO:0004994), hypertrophic cardiomyopathy (MONDO:0005045), hypertrophic cardiomyopathy 8 (MONDO:0012111), cardiomyopathy, familial restrictive, 1 (MONDO:0007270), familial hypertrophic cardiomyopathy (MONDO:0024573), dilated cardiomyopathy 1U (MONDO:0013371), amyloidosis, hereditary systemic 1 (MONDO:0971004), MERRF syndrome (MONDO:0010790), metaphyseal chondrodysplasia, Jansen type (MONDO:0007982), chondrodysplasia Blomstrand type (MONDO:0008970), long QT syndrome (MONDO:0002442), hypertrophic cardiomyopathy 1 (MONDO:0008647), restrictive cardiomyopathy (MONDO:0005201)

Orphanet (12): Rare cardiomyopathy (Orphanet:167848), Rare hypertrophic cardiomyopathy (Orphanet:217569), Familial isolated restrictive cardiomyopathy (Orphanet:75249), Rare familial disorder with hypertrophic cardiomyopathy (Orphanet:99739), Familial isolated dilated cardiomyopathy (Orphanet:154), ATTRV30M amyloidosis (Orphanet:85447), ATTRV122I amyloidosis (Orphanet:85451), MERRF (Orphanet:551), Metaphyseal chondrodysplasia, Jansen type (Orphanet:33067), Blomstrand lethal chondrodysplasia (Orphanet:50945), Restrictive cardiomyopathy (Orphanet:217632), NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy (Orphanet:155)

HPO phenotypes

16 total (16 of 16 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0001635	Congestive heart failure
HP:0001639	Hypertrophic cardiomyopathy
HP:0001645	Sudden cardiac death
HP:0001663	Ventricular fibrillation
HP:0001695	Cardiac arrest
HP:0001712	Left ventricular hypertrophy
HP:0001723	Restrictive cardiomyopathy
HP:0001962	Palpitations
HP:0002875	Exertional dyspnea
HP:0003621	Juvenile onset
HP:0006685	Endocardial fibrosis
HP:0010872	T-wave inversion
HP:0012664	Reduced left ventricular ejection fraction
HP:0031295	Left atrial enlargement

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST003253_12	Microalbuminuria	5.000000e-06
GCST006586_9	Urinary albumin excretion	2.000000e-08
GCST008790_15	Urinary albumin-to-creatinine ratio	8.000000e-12
GCST008791_2	Microalbuminuria	1.000000e-07
GCST008794_53	Urinary albumin-to-creatinine ratio	2.000000e-11
GCST009391_108	Metabolite levels	2.000000e-06
GCST009640_41	Urinary albumin-to-creatinine ratio	8.000000e-09
GCST010241_53	Apolipoprotein A1 levels	7.000000e-15
GCST010242_371	HDL cholesterol levels	2.000000e-10

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004285	albuminuria
EFO:0007778	urinary albumin to creatinine ratio
EFO:0010491	glycocholate measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004612	high density lipoprotein cholesterol measurement

MeSH disease descriptors (11)

Descriptor	Name	Tree numbers
D009202	Cardiomyopathies	C14.280.238
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
D008133	Long QT Syndrome	C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547
D017243	MERRF Syndrome	C05.651.460.620.530; C10.228.140.163.100.545; C10.228.140.490.375.130.650.700; C10.228.140.490.493.063.650.700; C10.668.491.500.500.550; C16.320.565.189.545; C18.452.132.100.545; C18.452.648.189.545; C18.452.660.560.620.530
C566296	Cardiomyopathy, Dilated, 1u (supp.)
C563866	Cardiomyopathy, Familial Hypertrophic, 8 (supp.)
C566168	Cardiomyopathy, Familial Restrictive, 1 (supp.)
C537914	Chondrodysplasia, blomstrand type (supp.)
C537564	Jansen type metaphyseal chondrodysplasia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3831286 (PROTEIN COMPLEX)

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

CTD chemical–gene interactions

14 total (human), top 14 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, decreases methylation, increases expression	4
Doxorubicin	affects expression, decreases expression	3
Valproic Acid	affects expression, increases methylation	2
bisphenol F	affects cotreatment, increases methylation	1
sodium arsenite	increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
bisphenol S	decreases expression	1
Sunitinib	decreases expression	1
Zoledronic Acid	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Benzo(a)pyrene	decreases methylation	1
Etoposide	decreases expression	1
Triclosan	decreases expression	1
Sodium Selenite	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_D6SD	WAe009-A-1H	Embryonic stem cell	Female

Clinical trials (associated diseases)

520 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
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
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