1. Gene
  2. TNNT2 - troponin T2, cardiac type Gene

TNNT2 - troponin T2, cardiac type Gene

Homo sapiens

Also known as CMH2; RCM3; TnTC; cTnT; CMD1D; CMPD2; LVNC6

Gene ID: 7139 | Gene type: protein coding

About TNNT2

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:201,359,014-201,377,680 (from NCBI)

This gene has 29 transcripts (splice variants), 461 orthologues, 2 paralogues and is associated with 9 phenotypes. Restricted expression toward heart (RPKM 1647.3).

Summary

This gene encodes the cardiac isoform of troponin T. The encoded protein is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. [provided by RefSeq, May 2022]

TNNT2 Products(13)

mRNA Protein Name
NM_000364.4 NP_000355.2 troponin T, cardiac muscle isoform 1
NM_001001430.3 NP_001001430.1 troponin T, cardiac muscle isoform 2
NM_001001431.3 NP_001001431.1 troponin T, cardiac muscle isoform 3
NM_001001432.3 NP_001001432.1 troponin T, cardiac muscle isoform 4
NM_001276345.2 NP_001263274.1 troponin T, cardiac muscle isoform 5
NM_001276346.2 NP_001263275.1 troponin T, cardiac muscle isoform 6
NM_001276347.2 NP_001263276.1 troponin T, cardiac muscle isoform 2
NM_001406723.1 NP_001393652.1 troponin T, cardiac muscle isoform 1
NM_001406724.1 NP_001393653.1 troponin T, cardiac muscle isoform 2
NM_001406725.1 NP_001393654.1 troponin T, cardiac muscle isoform 7
NM_001406726.1 NP_001393655.1 troponin T, cardiac muscle isoform 3
NM_001406727.1 NP_001393656.1 troponin T, cardiac muscle isoform 3
NM_001406728.1 NP_001393657.1 troponin T, cardiac muscle isoform 8
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables actin binding IDA
IDA: Inferred from direct assay
8205619 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
contributes to microfilament motor activity IDA
IDA: Inferred from direct assay
2530435 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
enables tropomyosin binding IDA
IDA: Inferred from direct assay
10850966 GOA
enables troponin C binding IPI
IPI: Inferred from physical interaction
8205619 GOA
enables troponin I binding IPI
IPI: Inferred from physical interaction
15542288 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cardiac muscle contraction IDA
IDA: Inferred from direct assay
25771144 GOA
involved in muscle filament sliding IDA
IDA: Inferred from direct assay
12186860 GOA
involved in negative regulation of ATP-dependent activity IDA
IDA: Inferred from direct assay
10850966 GOA
involved in positive regulation of ATP-dependent activity IDA
IDA: Inferred from direct assay
10850966 GOA
involved in regulation of heart contraction IMP
IMP: Inferred from mutant phenotype
15542288 GOA
involved in response to calcium ion IDA
IDA: Inferred from direct assay
2530435 GOA
involved in response to calcium ion IMP
IMP: Inferred from mutant phenotype
8205619 GOA
involved in ventricular cardiac muscle tissue morphogenesis IMP
IMP: Inferred from mutant phenotype
16754800 GOA
Cellular Component GO Annotation Evidence Reference Source
part of cardiac Troponin complex IDA
IDA: Inferred from direct assay
25771144 GOA
located in cardiac myofibril IDA
IDA: Inferred from direct assay
25771144 GOA
located in striated muscle thin filament IDA
IDA: Inferred from direct assay
12186860 GOA
part of troponin complex IDA
IDA: Inferred from direct assay
2530435 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TNNT2 Protein Structure

Troponin

Troponin: Troponin (98 - 242)

  • 0
  • 100
  • 200
  • 293 a.a.
Protein Preferred Names Protein Names

troponin T, cardiac muscle

cardiomyopathy, dilated 1D (autosomal dominant)

Related Diseases

Diseases Alias
Cardiomyopathy, Dilated, 1d

Dilated Cardiomyopathy 1d

CMD1D

Left Ventricular Noncompaction 6, Included

Lvnc6, Included

Left Ventricular Noncompaction 6

Cardiomyopathy, Dilated 1d

Cardiomyopathy, Familial Hypertrophic, 2

Hypertrophic Cardiomyopathy 2

CMH2

Cardiomyopathy, Hypertrophic, 2

Cardiomyopathy Familial Hypertrophic 2

Cardiomyopathy, Familial Hypertrophic 2

Cardiomyopathy, Hypertrophic, Familial, Type 2

Cardiomyopathy, Familial Restrictive, 3

RCM3

Restrictive Cardiomyopathy 3

Familial Restrictive Cardiomyopathy 3

Cardiomyopathy, Familial Restrictive 3

Cardiomyopathy, Restrictive, Familial, Type 3

Familial Isolated Dilated Cardiomyopathy

Familial Or Idiopathic Dilated Cardiomyopathy

Cardiomyopathy, Dilated, 1dd

Dilated Cardiomyopathy 1dd

CMD1DD

Cardiomyopathy, Dilated 1dd

Cardiomyopathy, Dilated, Type 1dd

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Fhc

Cardiomyopathy, Hypertrophic, Familial, Type 1

Familial Isolated Restrictive Cardiomyopathy

Familial Or Idiopathic Restrictive Cardiomyopathy

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy

Left Ventricular Hypertrabeculation

Lvnc

Spongy Myocardium

Isolated Noncompaction Of The Ventricular Myocardium

Left Ventricular Myocardial Noncompaction Cardiomyopathy

Fetal Myocardium

Honeycomb Myocardium

Hypertrabeculation Syndrome

Left Ventricular Non-Compaction

Lvht

Non-Compaction Of The Left Ventricular Myocardium

Ventricular Noncompaction, Left

Non-Compaction Cardiomyopathy

Myocarditis

Myocardial Inflammation

Inflammatory Cardiomyopathy

Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy

Cardiomyopathy, Restrictive

Cardiomyopathy, Constrictive

Primary Restrictive Cardiomyopathy

Rcm

Cardiomyopathy Restrictive

Wolff-Parkinson-White Syndrome

Wolff-Parkinson-White Pattern

Wpw Syndrome

Anomalous Atrioventricular Excitation

Anomalous A-V Excitation

Ventricular Pre-Excitation With Arrhythmia

WPWS

Ventricular Familial Preexcitation Syndrome

Preexcitation Syndrome

Ventricular Preexcitation

Wpw - [Wolff-Parkinson- White] Syndrome

Pre-Excitation Syndrome

Progressive Familial Heart Block, Type Ii

PFHB2

Pfhbii

Progressive Familial Heart Block Type Ii

Progressive Familial Heart Block Type 2

Heart Block Progressive Familial Type 2

Myocardial Stunning
Congenitally Corrected Transposition Of The Great Arteries

Congenitally Corrected Transposition Of The Great Vessels

Double Discordance

Levo-Transposition Of The Great Arteries

Transposition Of The Great Arteries, Congenitally Corrected

Transposition Of The Great Vessels, Congenitally Corrected

Discordant Ventriculoarterial And Atrioventricular Connections

L-Transposition Of The Great Arteries

Ventricular Inversion

Ventriculoarterial And Atrioventricular Discordance

Corrected Transposition Of The Great Arteries

Corrected Transposition Of The Great Vessels

Cctga - [Congenitally Corrected Transposition Of The Great Arteries]

Physiologically Corrected Transposition Of The Great Arteries

Physiologically Corrected Transposition Of The Great Vessels

Corrected Transposition

Discordant Atrioventricular And Ventriculo-Arterial Connections

Idd Transposition

Sll Transposition

Silent Myocardial Infarction
Cardiomyopathy, Dilated, 1b

Cardiomyopathy, Familial Dilated, 1

Cardiomyopathy, Dilated 1b

CMD1B

Cmpd1

Cardiomyopathy, Familial Dilated

Fdc

Dilated Cardiomyopathy 1b

Familial Dilated Cardiomyopathy

Acute Myocardial Infarction

Cardiac Attack

Heart Attack

Syncope
Cardiac Arrest

Cardiopulmonary Arrest

Circulatory Arrest

Heart Arrest

Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Pericarditis
Myocardial Infarction

Heart Attack

Myocardial Infarction, Susceptibility To

Myocardial Infarction 1

Myocardial Infarction, Protection Against

Myocardial Infarction, Decreased Susceptibility To

Myocardial Infarction, Decreased

Myocardial Infarct

MCI1

Premature Myocardial Infarction

Myocardial Infarction, Susceptibility To, Type 1

Pulmonary Embolism

Pulmonary Artery Embolism

Pulmonary Embolus

Pulmonary Emboli

Arthrogryposis, Distal, Type 2b2

DA2B2

Distal Arthrogryposis Type 2b2

Arthrogryposis, Distal, 2b2

Left Bundle Branch Hemiblock

Left Bundle Branch Block

Left Bundle-Branch Block

Intermittent Claudication

Charcot'S Syndrome

Amyotrophic Lateral Sclerosis

Myasthenic Syndrome, Congenital, 20, Presynaptic

Congenital Myasthenic Syndrome 20

CMS20

Congenital Myasthenic Syndrome 20 Presynaptic

Myasthenic Syndrome, Congenital, Type 20, Presynaptic

Congestive Heart Failure

Congestive Heart Disease

Heart Failure

Cardiac Failure Congestive

Chf

Weak Heart

Heart Failure Congestive

Ccf - [Congestive Cardiac Failure]

Chf - [Congestive Heart Failure]

Congestive Cardiac Diseases

Congested Heart Failure

Congestive Cardiac Failure

Cardiac Anasarca

Cardiac Oedema

Cardiac Stasis

Cardiovascular Oedema

Cardiac Hydrops

Congestive Failure

Heart Congestion

Heart Fluid

Oedematous Heart

Polycystic Kidney Disease 4
Friedreich Ataxia

Friedreich Ataxia 1

FRDA

Friedreich Ataxia With Retained Reflexes

Frda1

Fa

Friedreich'S Ataxia

Hereditary Spinal Ataxia

Fa1

Friedreich'S Tabes

Hereditary Spinal Sclerosis

Spinocerebellar Ataxia, Friedreich

Friedreich Spinocerebellar Ataxia

Friedrich'S Ataxia

Lipoprotein Quantitative Trait Locus

Coronary Artery Disease

Coronary Artery Anomaly

Coronary Artery Disease, Susceptibility To

Myocardial Ischemia

Congenital Anomaly Of Coronary Artery

Coronary Arteriosclerosis

Coronary Disease

Coronary Heart Disease

Coronary Artery Disorder

LPAQTL

Lpa Deficiency, Congenital

Coronary Artery Abnormality

Coronary Artery Anomaly, Congenital

Chd

Coronary Syndrome

Congenital Malformations Of Coronary Vessels

Malformation Of Coronary Vessels

Congenital Coronary Artery Anomaly

Congenital Coronary Artery Deformity

Congenital Coronary Artery Disorder

Abnormal Coronary Artery

Congenital Coronary Artery Malposition

Congenital Coronary Disease

Congenital Anomaly Of Coronary Arteries

Pulmonary Edema
Endocarditis
Ischemia

Acute Coronary Syndrome

Dextrocardia

Heart Predominantly In Right Hemithorax

Heart In Right Chest

Right-Sided Heart

Congenital Dextrocardia Of Heart

Transposition Of Heart

Intermediate Coronary Syndrome

Unstable Angina

Angina At Rest

Anginal Chest Pain At Rest

Impending Infarction

Preinfarction Angina

Worsening Angina

Angina, Unstable

Myocardial Preinfarction Syndrome

Angina Unstable

Crescendo Angina

Angina Decubitus

Acute Coronary Insufficiency

Unstable Angina Pectoris

Preinfarctional Angina Pectoris

Worsening Effort Angina

Preinfarction Syndrome

Unstable Angina Pectoris Syndrome

Unstable Anginal Attack

Unstable Cardiac Angina

Unstable Chest Angina

Unstable Heart Angina

De Novo Effort Angina Pectoris

Crescendo Angina Pectoris

Ua - [Unstable Angina]

Tetralogy Of Fallot

TOF

Fallot Tetralogy

Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle

Tetrad Of Fallot

Fallot Tetrad

Fallot Disease

Fallot Complex

Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy

Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle

Interventricular Septal Defect, In Tetralogy Of Fallot

Ventricular Septal Defect With Obstructed Right Ventricular Outflow

Tof - [Tetralogy Of Fallot]

Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]

Pulmonary Atresia, Ventricular Septal Defect And Mapcas

Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Intrinsic Cardiomyopathy
Immunoglobulin Light Chain Amyloidosis

Al Amyloidosis

Primary Amyloidosis

Primary Systemic Amyloidosis

Light Chain Amyloidosis

Amyloidosis Al

Amyloidosis Primary Systemic

Primary Al Amyloidosis

Primary Systemic Al Amyloidosis

Systemic Al Amyloidsis

Systemic Al Amyloidosis

Light-Chain Amyloidosis

Alys Amyloidosis

Familial Amyloid Nephropathy Due To Lysozyme Variant

Familial Renal Amyloidosis Due To Lysozyme Variant

Hereditary Amyloid Nephropathy Due To Lysozyme Variant

Hereditary Renal Amyloidosis Due To Lysozyme Variant

Lysozyme Amyloidosis

Amyloidosis Primary

Immunoglobulin Deposition Disease

Immunoglobulinic Amyloidosis

Amyloid Al

Pericardium Disease
Acute Myocarditis
Gas Gangrene

Myonecrosis

Gas Bacillus Infection

Gas Gangrene Due To Clostridia

Clostridial Myonecrosis

Clostridial Cellulitis

Mitral Valve Insufficiency

Mitral Regurgitation

Congenital Insufficiency Of Mitral Valve

Congenital Mitral Insufficiency

Congenital Mitral Regurgitation

Mitral Valve Incompetence

Mitral Valve Regurgitation

Mr - [Mitral Regurgitation]

Mi - [Mitral Incompetence]

Mitral Valve Annular Incompetency

Congenital Mitral Valve Incompetence

Congenital Mitral Valve Insufficiency

Congenital Mitral Valve Regurgitation

Congenital Mitral Incompetence

Coronary Artery Vasospasm

Coronary Vasospasm

Coronary Artery Spasm

Loeffler Endocarditis

Eosinophilic Endomyocardial Disease

Eosinophilic Endocarditis

Loeffler'S Endocarditis

Primary Eosinophilic Endomyocardial Restrictive Cardiomyopathy

Mitral Valve Disease

Chronic Rheumatic Mitral Valve

Rheumatic Mitral Insufficiency

Disease Of Mitral Valve

Mitral Rh Valve Dis.

Rheumatic Disease Of Mitral Valve

Rheumatic Mitral Valve Changes

Rheumatic Mitral Valve Incompetence

Rheumatic Mitral Valve Regurgitation

Abnormality Of The Mitral Valve

Diseases Of Mitral Valve

Rheumatic Mitral Regurgitation

Extrinsic Cardiomyopathy
Inferior Myocardial Infarction

Inferior Wall Myocardial Infarction

Constrictive Pericarditis

Pericarditis, Constrictive

Pericarditis Constrictive

Pericarditis Calculosa

Hutinel-Pick Syndrome

Chronic Tamponade

Chronic Pericardial Constriction

Pick Syndrome Of Heart

Pick Disease Of Heart

Concretio Cordis

Calcareous Pericarditis

Myopathy

Muscular Diseases

Myopathies

Pulmonary Artery Disease

Abnormality Of The Pulmonary Artery

Heart Conduction Disease

Conduction Disorder Of The Heart

Heart Rhythm Disease

Rheumatic Myocarditis

Acute Rheumatic Myocarditis

Active Rheumatic Fever With Myocarditis

Acute Rheumatic Carditis

Rheumatic Degeneration Of Myocardium

Rheumatic Fever With Myocarditis

Rheumatoid Myocarditis

Acute Rheumatic Heart Disease

Acute Rheumatic Fever With Myocarditis

Active Or Acute Rheumatic Myocarditis

Active Rheumatic Myocarditis

Active Rheumatic Progressive Myocarditis

Chronic Active Rheumatic Myocarditis

Old Active Rheumatic Myocarditis

Active Rheumatic Fibroid Myocarditis

Active Rheumatic Interstitial Myocarditis

Acute Or Subacute Rheumatic Myocardial Insufficiency

Acute Rheumatic Toxic Myocarditis

Inactive Or Quiescent Rheumatic Fever With Myocarditis

Inactive Rheumatic Myocarditis

Rheumatic Progressive Myocarditis

Rheumatic Fibroid Myocarditis

Rheumatic Interstitial Myocarditis

Myocardial Degeneration With Rheumatic Fever

Myocardial Insufficiency With Rheumatic Fever

Rheumatic Cardiomyopathy

Dilated Cardiomyopathy Due To Rheumatic Fever

Myocarditis Due To Rheumatic Fever

Rheumatic Myocardial Insufficiency

Right Bundle Branch Block

Right Bundle Branch Block With Left Posterior Fascicular Block

Muscular Dystrophy, Duchenne Type

Duchenne Muscular Dystrophy

DMD

Muscular Dystrophy, Duchenne

Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type

Severe Dystrophinopathy, Duchenne Type

Muscular Dystrophy Duchenne

Dystrophy, Muscular, Duchenne Type

Benign Duchenne Muscular Dystrophy

Duchenne Motor Neuron Disease

Duchenne Type Dystrophy

Duchenne-Griesinger Disease

Myotonic Disease

Myotonic Disorders

Myotonic Syndrome

Symptomatic Myotonia

Tricuspid Valve Disease

Rheumatic Tricuspid Valve Disease

Disease Of Tricuspid Valve

Rh. Tricuspid Valve Disease

Rheumatic Disease Of Tricuspid Valve

Tricuspid Disease

Tricuspid Valve Disorder

Systolic Heart Failure

Heart Failure, Systolic

Tricuspid Valve Insufficiency

Tricuspid Regurgitation

Tricuspid Valve Regurgitation

Tricuspid Incompetence

Tr - [Tricuspid Regurgitation]

Tricuspid Valve Incompetency

Tricuspid Valve Annular Incompetency

Autosomal Recessive Nonsyndromic Deafness 32

Deafness, Autosomal Recessive 32

Autosomal Recessive Deafness 105

Autosomal Recessive Deafness 32

Dfnb32

Hearing Impairment Infertile Male Syndrome

Hiims

Deafness, Autosomal Recessive, Type 32

Atrioventricular Block

Av Block

Pericardial Effusion

Noninflammatory Pericardial Effusion

Pericardium Effusion

Diastolic Heart Failure

Heart Failure, Diastolic

Ventricular Fibrillation, Paroxysmal Familial, 1

Paroxysmal Familial Ventricular Fibrillation

Ivf

Ventricular Fibrillation, Idiopathic

Ventricular Fibrillation

VF1

Vf

Ventricular Fibrillation, Familial, 1

Paroxysmal Ventricular Fibrillation

Idiopathic Ventricular Fibrillation

Ventricular Fibrillation, Paroxysmal Familial, Type 1

Ventricular Fibrillation, Paroxysmal Familial

Familial Paroxysmal Ventricular Fibrillation 1

Susceptibility To Ventricular Fibrillation During Myocardial Infarction

Ventricular Fibrillation Adverse Event

Danon Disease

Pseudoglycogenosis Ii

Antopol Disease

Glycogen Storage Disease Iib

Glycogen Storage Disease Type 2b

Glycogen Storage Disease Type Iib

Gsd2b

Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency

Vacuolar Cardiomyopathy And Myopathy X-Linked

Vacuolar Cardiomyopathy And Myopathy, X-Linked

Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly

Gsd2b, Formerly

Gsd Iib, Formerly

Glycogen Storage Cardiomyopathy

Glycogen Storage Disease Limited To The Heart

Pseudoglycogenosis 2

X-Linked Vacuolar Cardiomyopathy And Myopathy

Lysosomal Glycogen Storage Disease With Normal Acid Maltase

Glycogen Storage Disease Due To Lamp-2 Deficiency

Gsd Due To Lamp-2 Deficiency

Glycogenosis Due To Lamp-2 Deficiency

Lysosomal Glycogen Storage Disease With Normal Acid Maltase Activity

DAND

Gsd-Iib

Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Heart Valve Disease

Heart Valve Diseases

Valvular Heart Disease

Valvular Heart Diseases

Heart Valve Prolapse

Amyloidosis, Hereditary, Transthyretin-Related

Transthyretin Amyloidosis

Familial Amyloid Polyneuropathy

Ttr Amyloid Neuropathy

Transthyretin Amyloid Neuropathy

Transthyretin Amyloid Polyneuropathy

Fap

Familial Transthyretin Amyloidosis

Amyloidosis Transthyretin Related

Type I Familial Amyloid Polyneuropathy

Familial Amyloid Polyneuropathy Type I

Attrv122i Amyloidosis

Hereditary Amyloidosis, Transthyretin-Related

Amyloid Polyneuropathy, Familial

Attr Amyloidosis

Attrm Amyloidosis

Corino De Andrade'S Disease

Paramyloidosis

Transthyretin-Related Hereditary Amyloidosis

Ttr Amyloidosis

Hereditary Attr Amyloidosis

Portuguese Polyneuritic Amyloidosis

Portuguese Type Familial Amyloid Neuropathy

Swiss Type Amyloid Polyneuropathy

Type Ii Familial Amyloid Polyneuropathy

Attrv30m Amyloidosis

Attrv30m-Related Amyloidosis

Familial Amyloid Polyneuropathy, Portuguese-Swedish-Japanese Type

Attr Cardiomyopathy

Attrv122i-Related Amyloidosis

Ttr-Related Amyloid Cardiomyopathy

Ttr-Related Cardiac Amyloidosis

Transthyretin Amyloid Cardiopathy

Transthyretin-Related Familial Amyloid Cardiomyopathy

Amyloidosis, Transthyretin-Related

AMYL-TTR

Amyloidosis I

Amyloidosis Ohio Type

Amyloidosis Type 7

Amyloidosis Vii

Amyloid Polyneuropathy

Attr

Familial Amyloid Polyneuropathy Type Ii

Hereditary Amyloidosis Transthyretin-Related

Leptomeningeal Amyloidosis

Meningocerebrovascular Amyloidosis

Oculoleptomeningeal Amyloidosis

Familial Amyloid Polyneuropathies

Amyloidosis, Leptomeningeal

Senile Cardiac Amyloidosis

Amyloid Neuropathies, Familial

Danish Type Familial Amyloid Cardiomyopathy

Familial Amyloid Neuropathy, Portuguese Type

Amyloid Polyneuropathy, Swiss Type

Hereditary Oculoleptomeningeal Amyloid Angiopathy

Amyloid Neuropathies

Nonobstructive Coronary Artery Disease

Non-Cad

Non-Obstructive Coronary Artery Disease

Hypertensive Heart Disease
Alcoholic Cardiomyopathy

Cardiomyopathy, Alcoholic

Alcohol-Induced Heart Muscle Disease

Dilated Cardiomyopathy Secondary To Alcohol

Parkinson Disease 17

PARK17

Parkinson'S Disease 17

Autosomal Dominant Parkinson Disease 17

Parkinson Disease, Type 17

Barth Syndrome

3-Methylglutaconic Aciduria Type 2

BTHS

Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria

Mga Type Ii

Mga2

Mgca2

Mga Type 2

3-Methylglutaconic Aciduria Type Ii

3-Methylglutaconic Aciduria, Type Ii

Mga, Type Ii

3-Methylglutaconicaciduria Type 2

3-Methylglutaconicaciduria Type Ii

Taz Defect

3 Methylglutaconic Aciduria, Type Ii

Dnajc19 Defect

Cardioskeletal Myopathy-Neutropenia Syndrome

X-Linked Cardioskeletal Myopathy And Neutropenia

3-Alpha-Methylglutaconic Aciduria Type 2

Agm2

Cardioskeletal Myopathy-Neutropenia

Invm

Left Ventricular Non-Compaction Isolated X-Linked

Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked

Agammaglobulinemia 2, Autosomal Recessive

Myotonic Dystrophy 2

Myotonic Dystrophy Type 2

Proximal Myotonic Myopathy

Promm

Ricker Syndrome

DM2

Dystrophia Myotonica 2

Myotonic Myopathy, Proximal

Myotonic Disorders

Dystrophia Myotonica Type 2

Proximal Myotonic Dystrophy

Ricker Disease

Myotonic Dystrophy, Type 2

Dystrophy, Myotonic, Type 2

Noonan Syndrome With Multiple Lentigines

Leopard Syndrome

Multiple Lentigines Syndrome

Moynahan Syndrome

Cardiomyopathic Lentiginosis

Progressive Cardiomyopathic Lentiginosis

Cardio-Cutaneous Syndrome

Lentiginosis Profusa

Capute-Rimoin-Konigsmark-Esterly-Richardson Syndrome

Generalized Lentiginosis

Gorlin Syndrome Ii

Lentiginosis Profusa Syndrome

Lentigines, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonic Stenosis, Abnormal Genitalia, Retardation Of Growth, Deafnes

Diffuse Lentiginosis

Nsml

Familial Multiple Lentigines Syndrome

Alopecia-Epilepsy-Intellectual Disability Syndrome, Moynahan Type

Progressive Cardiomyopathic Lentiginosis Syndrome

Alopecia Epilepsy Oligophrenia Syndrome Of Moynahan

Myotonic Dystrophy 1

Myotonic Dystrophy

Dystrophia Myotonica

Steinert Disease

Myotonic Dystrophy Type 1

Myotonia Atrophica

DM1

Congenital Myotonic Dystrophy

Myotonia Dystrophica

Steinert Myotonic Dystrophy

Dystrophia Myotonica 1

Dm

Steinert'S Disease

Steinert Myotonic Dystrophy Syndrome

Myotonic Dystrophy Of Steinert

Dystrophia Myotonica Type 1

Myotonic Dystrophy Congenital

Dystrophy, Myotonic, Type 1

Dm - [Dystrophia Myotonica]

Myotonic Muscular Dystrophy

Catecholaminergic Polymorphic Ventricular Tachycardia

Cpvt

Catecholamine-Induced Polymorphic Ventricular Tachycardia

Familial Polymorphic Ventricular Tachycardia

Malignant Paroxysmal Ventricular Tachycardia

Multifocal Ventricular Premature Beats

Stress-Induced Polymorphic Ventricular Tachycardia

Bidirectional Tachycardia Induced By Catecholamine

Double Tachycardia Induced By Catecholamines

Polymorphic Catecholergic Ventricular Tachycardia

Syncopal Paroxysmal Tachycardia

Bidirectional Tachycardia Induced By Catecholamines

Fpvt

Bidirectional Ventricular Tachycardia Induced By Catecholamine

Polymorphic Ventricular Tachycardia Induced By Catecholamines

Ventricular Tachycardia, Catecholaminergic Polymorphic

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Familial Ventricular Tachycardia

Multifocal Pvcs

Multifocal Premature Ventricular Beats

Aortic Valve Disease 2

Aortic Valve Stenosis

Aortic Stenosis

Rheumatic Aortic Stenosis

AOVD2

Bicuspid Aortic Valve

Rheumatic Aortic Valve Stenosis

Valvular Aortic Stenosis

Aortic Valve Disease, Type 2

Aortic Valve Stricture

Aortic Valve Obstruction

Obstructed Aorta Valve

Rheumatic Aortic Obstruction

Rheumatic Aortic Valve Obstruction

Rheumatic Aortic Stricture

Aortic Valve Regurgitation

Aortic Insufficiency With Stenosis

Rheumatic Aortic Valve Stenosis With Insufficiency

Rheumatic Aortic Stenosis With Incompetence

Rheumatic Aortic Stenosis With Regurgitation

Heart Septal Defect

Septal Defect

Heart Septal Defects

Cardiac Septal Defects

Congenital Septal Defect Of Heart

Aortic Dissection
Hypoplastic Left Heart Syndrome

Hlhs

Heart, Hypoplastic Left, Syndrome

Hypoplasia Of The Left Heart

Left Heart Hypoplasia Syndrome

Hlhs - [Hypoplastic Left Heart Syndrome]

Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome

Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome

Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle

Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia

Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome

Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Chronic Kidney Disease

Chronic Renal Disease

Chronic Kidney Failure

Ckd

Chronic Renal Failure

Kidney Failure, Chronic

Chronic Renal Failure Syndrome

Crf

Renal Failure - Chronic

Renal Failure Chronic

Chronic Kidney Diseases

Chronic Kidney Disease Stage 5

Ckd - [Chronic Kidney Disease]

Crf - [Chronic Renal Failure]

Chronic Kidney Impairment

Chronic Renal Impairment

Chronic Kidney Shutdown

Chronic Hypoxic Kidney Failure

Chronic Kidney Collapse

Chronic Renal Insufficiency

Chronic Kidney Toxaemia

Chronic Kidney Hypofunction

Chronic Renal Suppression

Chronic Renal Failure, Stage 5

Ckd - [Chronic Kidney Disease] Stage 5

End Stage Kidney Failure

End Stage Renal Failure

End Stage Kidney Disease

End Stage Renal Disease

End Stage Chronic Renal Failure

Esrf - [End Stage Renal Failure]

Esrd - [End Stage Renal Diseases]

Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²

Ventricular Septal Defect

Ventricular Septal Defects

Interventricular Septal Defect

Heart Septal Defects, Ventricular

Ventricular Septal Abnormality

Interventricular Septum Defect

Ventricular Septum Defect

Vsd - [Ventricular Septum Defect]

Congenital Ventricular Septal Defect

Single Ventricular Septal Defect

Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia

Arvc

Arvd

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Arvc Cardiomyopathy

Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia

Arvd/C

Right Ventricular Dysplasia, Arrhythmogenic

Ventricular Dysplasia, Right, Arrhythmogenic

Cardiomyopathy, Ventricular, Right, Arrhythmogenic

Dysplasia, Arrhythmogenic Right Ventricular

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome

Sudden Unexplained Nocturnal Death Syndrome

Bangungut

Brugada Type Idiopathic Ventricular Fibrillation

Pokkuri Death Syndrome

Sunds

Idiopathic Ventricular Fibrillation, Brugada Type

Sudden Unexplained Death

Dream Disease

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sudden Unexplained Death Syndrome

Suds

Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Long Qt Syndrome 1

Romano-Ward Syndrome

LQT1

Ward-Romano Syndrome

Rws

Ventricular Fibrillation With Prolonged Qt Interval

Wrs

Long Qt Syndrome 1, Acquired, Susceptibility To

Long Qt Syndrome 1, Acquired

Romano-Ward Long Qt Syndrome

Long Qt Syndrome Type 1

Long Qt Syndrome-1

Acquired Susceptibility To Long Qt Syndrome 1

Qt Syndrome, Long, Type 1

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Long Qt Syndrome

Romano-Ward Syndrome

Long Q-T Syndrome

Lqt

Qt Syndrome, Long

Congenital Long Qt Syndrome

Familial Long Qt Syndrome

Patent Foramen Ovale

Atrial Septal Defect Within Oval Fossa

Foramen Ovale Patent

Ostium Secundum Atrial Septal Defect

Atrial Septal Defect, Ostium Secundum Type

Foramen Ovale, Patent

Defect, Patent Or Persistent, Ostium Secundum

Ostium Secundum Type Atrial Septal Defect

Persistent Ostium Secundum

Asd Ostium Secundum Type

Ostium Secundum Asd

Osasd

Asd, Ostium Secundum Type

Pfo - [Patent Foramen Ovale]

Open Foramen Ovale

Open Oval Foramen

Persistent Foramen Ovale

Secundum Atrial Septal Defect

Diabetes Mellitus

Diabetes

Atrial Heart Septal Defect

Atrial Septal Defect

Atrial Septal Defects

Atrioseptal Defect

Auricular Septal Defect

Congenital Atrial Septal Defect

Interatrial Septal Defect

Interauricular Septal Defect

Heart Septal Defects, Atrial

Septal Defect, Atrial

Patent Ductus Arteriosus 1

Patent Ductus Arteriosus

PDA1

Pda

Ductus Arteriosus, Patent

Patent Ductus Arteriosus, Susceptibility To

Patent Ductus Botalli

Patency Of The Ductus Arteriosus

Patent Ductus Arteriosus Familial

Ductus Arteriosus Patent

Patent Ductus Arteriosus - Persisting Type

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta TNNT2 VGNC VGNC:106524
Bos taurus TNNT2 VGNC VGNC:36195
Mus musculus TNNT2 MGD MGI:104597
Canis familiaris TNNT2 VGNC VGNC:47691
Felis catus TNNT2 VGNC VGNC:66428
Rattus norvegicus TNNT2 RGD RGD:3882
Others TNNT2 NCBI