2. Gene
  3. TNNT3 - troponin T3, fast skeletal type Gene

TNNT3 - troponin T3, fast skeletal type Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as TNTF; DA2B2; beta-TnTF

Gene ID: 7140 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

Troponin: Troponin (73 - 215)

  • 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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS14856 TNNT3 Human Pre-designed siRNA Set A Pre-designed Sets / 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