TNNT3 - troponin T3, fast skeletal type Gene

Also Known as TNTF; DA2B2; beta-TnTF

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7140

About TNNT3

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:1,919,552-1,938,702 (from NCBI)

This gene has 18 transcripts (splice variants), 1 gene allele, 265 orthologues, 2 paralogues and is associated with 4 phenotypes. Biased expression in esophagus (RPKM 25.1), prostate (RPKM 20.2) and 6 other tissues.

Summary

The binding of CA(2+) to the trimeric troponin complex initiates the process of muscle contraction. Increased CA(2+) concentrations produce a conformational change in the troponin complex that is transmitted to tropomyosin dimers situated along actin filaments. The altered conformation permits increased interaction between a Myosin head and an actin filament which, ultimately, produces a muscle contraction. The troponin complex has protein subunits C, I, and T. Subunit C binds CA(2+) and subunit I binds to actin and inhibits actin-myosin interaction. Subunit T binds the troponin complex to the tropomyosin complex and is also required for CA(2+)-mediated activation of actomyosin ATPase activity. There are 3 different troponin T genes that encode tissue-specific isoforms of subunit T for fast skeletal-, slow skeletal-, and cardiac-muscle. This gene encodes fast skeletal troponin T protein; also known as troponin T type 3. Alternative splicing results in multiple transcript variants encoding additional distinct troponin T type 3 isoforms. A developmentally regulated switch between fetal/neonatal and adult troponin T type 3 isoforms occurs. Additional splice variants have been described but their biological validity has not been established. Mutations in this gene may cause distal arthrogryposis multiplex congenita type 2B (DA2B). [provided by RefSeq, Oct 2009]

TNNT3 Products (17)

mRNA	Protein	Name
NM_001042780.3	NP_001036245.1	troponin T, fast skeletal muscle isoform 3
NM_001042781.3	NP_001036246.1	troponin T, fast skeletal muscle isoform 2
NM_001042782.3	NP_001036247.1	troponin T, fast skeletal muscle isoform 4
NM_001297646.2	NP_001284575.1	troponin T, fast skeletal muscle isoform 4
NM_001363561.2	NP_001350490.1	troponin T, fast skeletal muscle isoform 5
NM_001367842.1	NP_001354771.1	troponin T, fast skeletal muscle isoform 2
NM_001367843.1	NP_001354772.1	troponin T, fast skeletal muscle isoform 6
NM_001367844.1	NP_001354773.1	troponin T, fast skeletal muscle isoform 4
NM_001367845.1	NP_001354774.1	troponin T, fast skeletal muscle isoform 7
NM_001367846.1	NP_001354775.1	troponin T, fast skeletal muscle isoform 8
NM_001367847.1	NP_001354776.1	troponin T, fast skeletal muscle isoform 5
NM_001367848.1	NP_001354777.1	troponin T, fast skeletal muscle isoform 9
NM_001367849.1	NP_001354778.1	troponin T, fast skeletal muscle isoform 10
NM_001367850.1	NP_001354779.1	troponin T, fast skeletal muscle isoform 11
NM_001367851.1	NP_001354780.1	troponin T, fast skeletal muscle isoform 12
NM_001367852.1	NP_001354781.1	troponin T, fast skeletal muscle isoform 12
NM_006757.4	NP_006748.1	troponin T, fast skeletal muscle isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to actin binding	IDA IDA: Inferred from direct assay	17194691	GOA
enables calcium-dependent protein binding	IDA IDA: Inferred from direct assay	8987992	GOA
contributes to tropomyosin binding	IDA IDA: Inferred from direct assay	9724539	GOA
enables tropomyosin binding	IMP IMP: Inferred from mutant phenotype	8987992	GOA
enables troponin C binding	IPI IPI: Inferred from physical interaction	8987992	GOA
enables troponin I binding	IPI IPI: Inferred from physical interaction	8987992	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of calcium-dependent ATPase activity	IDA IDA: Inferred from direct assay	8987992	GOA
involved in regulation of ATP-dependent activity	IDA IDA: Inferred from direct assay	17194691	GOA
involved in regulation of striated muscle contraction	IDA IDA: Inferred from direct assay	17194691	GOA
involved in skeletal muscle contraction	IDA IDA: Inferred from direct assay	17194691	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of troponin complex	IDA IDA: Inferred from direct assay	8987992	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

TNNT3 Protein Structure

Troponin

0
100
200
269 a.a.

Protein Preferred Names	Protein Names
troponin T, fast skeletal muscle	troponin T type 3 (skeletal, fast)

Related Diseases

Diseases	Alias
Arthrogryposis, Distal, Type 2b2	DA2B2 Distal Arthrogryposis Type 2b2 Arthrogryposis, Distal, 2b2
Arthrogryposis, Distal, Type 1a	Distal Arthrogryposis Type 1 Digitotalar Dysmorphism DA1A Da1 Amcd1 Arthrogryposis, Distal, Type 2b4 Distal Arthrogryposis Type 1a Arthrogryposis, Distal, Type 1 Arthrogryposis Multiplex Congenita Distal Type 1 Arthrogryposis Multiplex Congenita, Distal Type 1 Arthrogryposis Multiplex Congenita, Distal, Type I Distal Arthrogryposis Type 1b Arthrogryposis, Distal, 1a Amc Arthrogryposis Multiplex Congenita Arthrogryposis, Distal, 2b4 DA2B4 Arthrogryposis Multiplex Congenita, Distal, Type 1 Arthrogryposis
Arthrogryposis, Distal, Type 2b1	Sheldon-Hall Syndrome Freeman-Sheldon Syndrome Variant Distal Arthrogryposis Type 2b1 DA2B1 Arthrogryposis Multiplex Congenita, Distal, Type 2b Shs Distal Arthrogryposis Type 2b Fssv Arthrogryposis Multiplex Congenita Distal Type 2b Arthrogryposis Multiplex Congenita Distal Type Ii With Craniofacial Abnormalities Da2b Arthrogryposis Multiplex Congenita, Distal, Type Ii, With Craniofacial Abnormalities Distal Arthrogryposis Type Iib Freeman Sheldon Syndrome, Variant Freeman Sheldon Variant Arthrogryposis, Distal, 2b1 Amcd2b
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Arthrogryposis, Distal, Type 2a	Freeman-Sheldon Syndrome Craniocarpotarsal Dystrophy Craniocarpotarsal Dysplasia DA2A Whistling Face-Windmill Vane Hand Syndrome Fss Distal Arthrogryposis Type 2a Whistling Face Syndrome Freeman-Burian Syndrome Arthrogryposis Distal Type 2a Distal Arthrogryposis, Type 2a Fbs Arthrogryposis, Distal, 2a
Arthrogryposis, Distal, Type 5	Oculomelic Amyoplasia Distal Arthrogryposis Type 5 Distal Arthrogryposis Type Iib DA5 Arthrogryposis With Oculomotor Limitation And Electroretinal Abnormalities Daiib Distal Arthrogryposis Type 2b Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome Distal Arthrogryposis With Ophthalmoplegia Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome Arthrogryposis, Distal, Type Iib Da2b Freeman-Sheldon Syndrome Variant Sheldon-Hall Syndrome Arthogryposis With Oculomotor Limitation And Electroretinal Abnormalities Arthrogryposis Ophthalmoplegia Retinopathy Arthrogryposis, Distal, 5 Arthrogryposis, Distal, Type 2b
Nemaline Myopathy 5	Amish Nemaline Myopathy NEM5 Anm Nemaline Myopathy, Amish Type Nemaline Myopathy 5, Amish Type Nemaline Myopathy, Caused By Mutation In The Troponin T1 Gene Nemaline Myopathy, Type 5 Nemaline Myopathy Amish Type Tnnt1-Related Nemaline Myopathy Myopathy, Nemaline, Type 5
Arthrogryposis, Distal, Type 5d	Distal Arthrogryposis Type 5d DA5D Distal Arthrogryposis Type 5 Without Ophthalmoparesis Distal Arthrogryposis Type 5 Without Ophthalmoplegia Arthrogryposis, Distal, 5d
Clubfoot	Congenital Talipes Equinovarus Congenital Clubfoot Congenital Equinovarus Equinovarus Deformity Of Foot Club Foot
Cardiomyopathy, Dilated, 2a	Dilated Cardiomyopathy 2a CMD2A Cardiomyopathy, Dilated, Autosomal Recessive Cardiomyopathy, Congestive, Autosomal Recessive Cardiomyopathy, Dilated 2a Cardiomyopathy, Dilated, Type 2a Autosomal Recessive Dilated Cardiomyopathy
Multiple Pterygium Syndrome, Escobar Variant	Multiple Pterygium Syndrome Pterygium Escobar Syndrome EVMPS Pterygium Syndrome Autosomal Recessive Multiple Pterygium Syndrome Pterygium Colli Syndrome Pterygium Universale Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome Escobar Variant Multiple Pterygium Syndrome Multiple Pterygium Syndrome, Nonlethal Type Surfer'S Eye Multiple Pterygium Syndrome Escobar Type Multiple Pterygium Syndrome Nonlethal Type Familial Pterygium Syndrome Pterygium Colli Multiple Pterygium Syndrome, Non-Lethal Type Nonlethal Type Multiple Pterygium Syndrome Pterygium Syndrome, Multiple, Escobar Type Pterygium Of Eye Web Eye
Arthrogryposis, Distal, Type 2b3	DA2B3 Distal Arthrogryposis Type 2b3 Arthrogryposis, Distal, 2b3
Cardiomyopathy, Dilated, 1ff	Dilated Cardiomyopathy 1ff CMD1FF Cardiomyopathy, Dilated 1ff Cardiomyopathy, Dilated, Type 1ff
Arthrogryposis, Distal, Type 10	DA10 Distal Arthrogryposis Type 10 Short Achilles Tendon Plantar Flexion Contracture Short Tendo Calcaneus Congenital Plantar Contractures Tendo Calcaneus, Short
Lethal Congenital Contracture Syndrome 4	LCCS4 Contracture Syndrome, Lethal, Congenital, Type 4
Arthrogryposis, Distal, Type 7	Hecht Syndrome Trismus-Pseudocamptodactyly Syndrome Distal Arthrogryposis Type 7 Dutch-Kentucky Syndrome DA7 Hecht-Beals Syndrome Mouth, Inability To Open Completely, And Short Finger-Flexor Tendons Mouth, Inability To Completely Open, And Short Finger-Flexor Tendons Arthrogryposis Distal Type 7 Trismus Pseudocamptodactyly Syndrome Arthrogryposis, Distal, 7
Fissured Tongue	Furrowed Tongue Plicated Tongue Tongue, Fissured Congenital Fissure Of Tongue Congenital Plicated Tongue Fissure Of Tongue Fissure Of Tongue, Congenital Geographic Tongue And Fissured Tongue Lingua Plicata Scrotal Tongue
Nemaline Myopathy 8	NEM8 Nemaline Myopathy 8, Autosomal Recessive Myopathy, Nemaline, Type 8
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Jacobs Syndrome Arthropathy-Camptodactyly Syndrome Pericarditis-Arthropathy-Camptodactyly Syndrome Xyy Syndrome Pac Syndrome Cacp Syndrome CACP Fibrosing Serositis, Familial Camptodactyly-Arthropathy-Pericarditis Syndrome Cap Syndrome 47, Xyy Syndrome 47,Xyy Syndrome Double Y Syndrome Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome Hypertrophic Synovitis, Congenital Familial Congenital Familial Hypertrophic Synovitis Xyy Karyotype Y Disomy Yy Syndrome Familial Fibrosing Serositis Disomy Y Double Y Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome Arthropathy Camptodactyly Syndrome Camptodactyly Arthropathy Pericarditis Syndrome Pericarditis Arthropathy Camptodactyly Syndrome Jacob'S Syndrome 47,Xyy Cdags Syndrome
Enterokinase Deficiency	Enteropeptidase Deficiency Congenital Enterokinase Deficiency Congenital Enteropathy Due To Enteropeptidase Deficiency Deficiency Of Enteropeptidase ENTKD
Spondylocarpotarsal Synostosis Syndrome	SCT Spondylocarpotarsal Syndrome Vertebral Fusion With Carpal Coalition Congenital Scoliosis With Unilateral Unsegmented Bar Congenital Synspondylism Spondylocarpotarsal Synostosis Synspondylism, Congenital Scoliosis, Congenital, With Unilateral Unsegmented Bar Scoliosis, Congenital With Unilateral Unsegmented Bar Synspondylism Congenital Sct Syndrome Synspondylism
Congenital Structural Myopathy
Congenital Fiber-Type Disproportion	Congenital Fiber Type Disproportion Cftdm Congenital Myopathy With Fiber Type Disproportion Cftd Congenital Fiber-Type Disproportion Myopathy Fiber-Type Disproportion Myopathy, Congenital Myopathy, Congenital With Fiber-Type Disproportion
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
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
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

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14856	TNNT3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29383	Tnnt2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TNNT3	RGD	RGD:3883
Canis familiaris	TNNT3	VGNC	VGNC:47692
Felis catus	TNNT3	VGNC	VGNC:66429
Macaca mulatta	TNNT3	VGNC	VGNC:78607
Mus musculus	TNNT3	MGD	MGI:109550
Bos taurus	TNNT3	VGNC	VGNC:36196
Others	TNNT3	NCBI