MHRT

Summary

MHRT (myosin heavy chain associated RNA transcript, HGNC:51291) is a long non-coding RNA gene on chromosome 14q11.2.

This gene encodes a spliced long non-coding RNA that may act as a cardioprotective agent in the heart. Based on a study of a similar gene in mouse, the encoded transcript may regulate chromatin remodeling by acting as a decoy to the BRG1 chromatin repressor complex thus preventing it from binding to its genomic targets. Blocking the actions of BRG1 could be crucial in protecting the heart from pathological hypertrophy.

Source: NCBI Gene 104564225 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 447 total — 2 pathogenic, 6 likely-pathogenic
• Phenotypes (HPO): 3

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:51291
Approved symbol	MHRT
Name	myosin heavy chain associated RNA transcript
Location	14q11.2
Locus type	RNA, long non-coding
Status	Approved
Aliases	Myheart
OMIM	616096
Entrez	104564225
RNAcentral	URS00007E4CE3 — lncRNA, 876 nt, 1 organism(s)

Gene structure

Transcript identifiers

Ensembl transcripts: 0

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

None — 0 exons

Expression profiles

Top tissues by expression

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

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 5)

• Long noncoding Mhrt RNA: molecular crowbar unravel insights into heart failure treatment (PMID:25691692)
• elevation of circulating NRON and MHRT predicts heart failure (HF) and may be considered as novel biomarkers of HF. (PMID:28296001)
• lncRNAs MHRT, FENDRR and CARMEN show distinct expression profiles in hypertensive patients (PMID:29917257)
• MHRT was ectopically expressed in gastric cancer tissues and cell lines. MHRT inhibits apoptosis and promotes proliferation and invasion of gastric cancer cells in vitro. MHRT inhibition of apoposis occurs via regulation of the expression of miR-4529-5p which then regulates expression of ROCK2. (PMID:31273599)
• Association of long-chain non-coding RNA MHRT gene single nucleotide polymorphism with risk and prognosis of chronic heart failure. (PMID:32702806)

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Canonical reviewed UniProt: None (reviewed: )

All UniProt accessions (0):

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	6
Uncertain significance	239
Likely benign	132
Benign	21

Top pathogenic / likely-pathogenic (8)

Variant ID	HGVS	Classification
143209	NM_000257.4(MYH7):c.4442T>C (p.Leu1481Pro)	Pathogenic
2780272	NM_000257.4(MYH7):c.4598T>C (p.Leu1533Pro)	Pathogenic
1008293	NM_000257.4(MYH7):c.4300C>G (p.Arg1434Gly)	Likely pathogenic
1393211	NM_000257.4(MYH7):c.4520-2del	Likely pathogenic
2155573	NM_000257.4(MYH7):c.4486G>A (p.Glu1496Lys)	Likely pathogenic
3242432	NM_000257.4(MYH7):c.4943del (p.Ser1648fs)	Likely pathogenic
4293048	NM_000257.4(MYH7):c.4354-1G>T	Likely pathogenic
835759	NM_000257.4(MYH7):c.4301G>C (p.Arg1434Pro)	Likely pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000861930 (14:23416845 C>G), RS1001644180 (14:23415566 C>G,T), RS1002510891 (14:23416670 A>G), RS1005488932 (14:23417411 C>T), RS1006534868 (14:23415807 G>A,T), RS1006548593 (14:23414556 GA>G), RS1006772925 (14:23414780 G>A), RS1008225259 (14:23415999 A>G), RS1008447480 (14:23416518 G>A,T), RS1009342176 (14:23417117 G>A), RS1009420908 (14:23414238 T>C), RS1011777797 (14:23415516 G>A), RS1012725024 (14:23416507 G>A), RS1012777063 (14:23416730 A>C,G), RS1014533496 (14:23413467 T>C)

Disease associations

OMIM: gene MIM:616096 | disease phenotypes: MIM:192600, MIM:160500, MIM:181430, MIM:608358, MIM:255160, MIM:613426, MIM:115200, MIM:194200, MIM:117000, MIM:613251, MIM:107970, MIM:115080

GenCC curated gene-disease

Mondo (18): hypertrophic cardiomyopathy (MONDO:0005045), cardiomyopathy (MONDO:0004994), hypertrophic cardiomyopathy 1 (MONDO:0008647), MYH7-related skeletal myopathy (MONDO:0008050), congenital myopathy 7A, myosin storage, autosomal dominant (MONDO:0008409), myopathy, myosin storage, autosomal recessive (MONDO:0009708), congenital fiber-type disproportion myopathy (MONDO:0009711), dilated cardiomyopathy 1S (MONDO:0013262), dilated cardiomyopathy (MONDO:0005021), restrictive cardiomyopathy (MONDO:0005201), myopathy (MONDO:0005336), familial hypertrophic cardiomyopathy (MONDO:0024573), familial dilated cardiomyopathy (MONDO:0016333), Wolff-Parkinson-White syndrome (MONDO:0008685), congenital myopathy (MONDO:0019952)

Orphanet (18): Rare hypertrophic cardiomyopathy (Orphanet:217569), Rare cardiomyopathy (Orphanet:167848), Familial isolated dilated cardiomyopathy (Orphanet:154), Congenital fiber-type disproportion myopathy (Orphanet:2020), OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy (Orphanet:437572), Left ventricular noncompaction (Orphanet:54260), Laing distal myopathy (Orphanet:59135), Autosomal dominant myosin storage myopathy (Orphanet:636965), Autosomal recessive myosin storage myopathy (Orphanet:636970), Dilated cardiomyopathy (Orphanet:217604), Restrictive cardiomyopathy (Orphanet:217632), Rare familial disorder with hypertrophic cardiomyopathy (Orphanet:99739), Familial dilated cardiomyopathy (Orphanet:217607), Congenital myopathy (Orphanet:97245), Inherited isolated arrhythmogenic cardiomyopathy (Orphanet:217656)

HPO phenotypes

3 total (3 of 3 shown, HPO-id order):

HPO	Term
HP:0001639	Hypertrophic cardiomyopathy
HP:0001644	Dilated cardiomyopathy
HP:0001716	Wolff-Parkinson-White syndrome

GWAS associations

0 associations (top):

MeSH disease descriptors (10)

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
D002313	Cardiomyopathy, Restrictive	C14.280.238.160
D014927	Wolff-Parkinson-White Syndrome	C14.280.067.780.977; C14.280.123.750.977; C16.131.240.400.980
C563538	Cardiomyopathy, Dilated, 1s (supp.)
C567684	Cardiomyopathy, Familial Hypertrophic, 14 (supp.)
C564970	Myopathy, Hyaline Body, Autosomal Recessive (supp.)
C536231	familial dilated cardiomyopathy (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 0 entries

CTD chemical–gene interactions

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Triclosan	decreases expression	1

Clinical trials (associated diseases)

300 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