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Aliases for TNNT3 Gene

Aliases for TNNT3 Gene

  • Troponin T3, Fast Skeletal Type 2 3 5
  • Troponin T Type 3 (Skeletal, Fast) 2 3
  • Beta-TnTF 3 4
  • TNTF 3 4
  • FTnT 3 4
  • Troponin T, Fast Skeletal Muscle 3
  • Fast Skeletal Muscle Troponin T 4
  • Troponin-T3, Skeletal, Fast 2
  • Troponin T3, Skeletal, Fast 2

External Ids for TNNT3 Gene

Previous GeneCards Identifiers for TNNT3 Gene

  • GC11M000837
  • GC11P002023
  • GC11P001900
  • GC11P001908
  • GC11P001898
  • GC11P001710

Summaries for TNNT3 Gene

Entrez Gene Summary for TNNT3 Gene

  • 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]

GeneCards Summary for TNNT3 Gene

TNNT3 (Troponin T3, Fast Skeletal Type) is a Protein Coding gene. Diseases associated with TNNT3 include Arthrogryposis, Distal, Type 2B and Arthrogryposis Multiplex Congenita, Distal, Type 1. Among its related pathways are Striated Muscle Contraction and Cardiac conduction. GO annotations related to this gene include actin binding and tropomyosin binding. An important paralog of this gene is TNNT1.

UniProtKB/Swiss-Prot for TNNT3 Gene

  • Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.

Gene Wiki entry for TNNT3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TNNT3 Gene

Genomics for TNNT3 Gene

Regulatory Elements for TNNT3 Gene

Enhancers for TNNT3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F001916 1.1 Ensembl ENCODE 13.1 +5.1 5061 16.5 HDGF CTCF KLF1 NFXL1 YBX1 EBF1 RAD21 HIC1 ZFHX2 POLR2A TNNT3 MRPL23-AS1 LINC01150 MRPL23
GH11F001896 0.9 Ensembl ENCODE 13.3 -22.3 -22262 1.4 SRF CTCF RNF2 TRIM22 BMI1 ZBTB7A RAD21 POLR2A ZBTB33 TNNT3 MRPL23 MRPL23-AS1 LINC01150
GH11F001874 1.1 Ensembl ENCODE 10 -40.7 -40666 9.1 HDGF BMI1 ZNF48 ZSCAN9 ZNF2 RAD21 GLIS2 ZNF143 ZNF654 REST TNNT3 CTSD GC11P001865 LINC01150
GH11F001862 1.1 Ensembl ENCODE 10 -55.6 -55562 2.8 CHD4 MAX GLI4 YBX1 HIC1 GLIS2 ZNF366 POLR2A ZNF600 FOS TNNT3 ENSG00000249086 MIR4298
GH11F002139 1.5 FANTOM5 Ensembl ENCODE 6.5 +226.6 226578 13.0 PKNOX1 ZNF48 GLIS2 ZNF143 FOS MXD4 JUNB REST SREBF1 CBX8 ENSG00000199550 CD81 LSP1 MIR7847 FAM99B KRTAP5-6 LOC100505570 KRTAP5-5 IGF2 TH
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TNNT3 on UCSC Golden Path with GeneCards custom track

Genomic Location for TNNT3 Gene

Chromosome:
11
Start:
1,919,562 bp from pter
End:
1,938,706 bp from pter
Size:
19,145 bases
Orientation:
Plus strand

Genomic View for TNNT3 Gene

Genes around TNNT3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TNNT3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TNNT3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TNNT3 Gene

Proteins for TNNT3 Gene

  • Protein details for TNNT3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P45378-TNNT3_HUMAN
    Recommended name:
    Troponin T, fast skeletal muscle
    Protein Accession:
    P45378
    Secondary Accessions:
    • A8MQ76
    • A8MSW1
    • B3KPX3
    • B7WP64
    • B7ZL26
    • B7ZVV9
    • Q12975
    • Q12976
    • Q12977
    • Q12978
    • Q17RG9
    • Q6FH29
    • Q6N056
    • Q86TH6

    Protein attributes for TNNT3 Gene

    Size:
    269 amino acids
    Molecular mass:
    31825 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH50446.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TNNT3 Gene

neXtProt entry for TNNT3 Gene

Post-translational modifications for TNNT3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TNNT3 Gene

Domains & Families for TNNT3 Gene

Gene Families for TNNT3 Gene

Protein Domains for TNNT3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TNNT3 Gene

Graphical View of Domain Structure for InterPro Entry

P45378

UniProtKB/Swiss-Prot:

TNNT3_HUMAN :
  • Belongs to the troponin T family.
Family:
  • Belongs to the troponin T family.
genes like me logo Genes that share domains with TNNT3: view

Function for TNNT3 Gene

Molecular function for TNNT3 Gene

GENATLAS Biochemistry:
troponin T3,component of the troponin complex forming the calcium-sensitive molecular switch that regulates striated muscle contraction in response to modifications in intracellular concentration,fast skeletal muscle,organized in pair with TNNI2,involved in the attachment of the complex to tropomyosin and troponin I,not imprinted in humans
UniProtKB/Swiss-Prot Function:
Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.

Gene Ontology (GO) - Molecular Function for TNNT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 contributes_to actin binding IDA 17194691
GO:0005523 tropomyosin binding IMP 8987992
GO:0030172 troponin C binding IPI 8987992
GO:0030899 contributes_to calcium-dependent ATPase activity IDA 8987992
GO:0031013 troponin I binding IPI 8987992
genes like me logo Genes that share ontologies with TNNT3: view
genes like me logo Genes that share phenotypes with TNNT3: view

Human Phenotype Ontology for TNNT3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TNNT3 Gene

MGI Knock Outs for TNNT3:

Animal Model Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for TNNT3 Gene

Localization for TNNT3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TNNT3 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 2

Gene Ontology (GO) - Cellular Components for TNNT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005861 troponin complex IEA,IDA 8987992
genes like me logo Genes that share ontologies with TNNT3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TNNT3 Gene

Pathways & Interactions for TNNT3 Gene

genes like me logo Genes that share pathways with TNNT3: view

Pathways by source for TNNT3 Gene

1 BioSystems pathway for TNNT3 Gene
2 Reactome pathways for TNNT3 Gene

Gene Ontology (GO) - Biological Process for TNNT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003009 skeletal muscle contraction IDA 17194691
GO:0006937 regulation of muscle contraction IEA --
GO:0006942 regulation of striated muscle contraction IEA,IDA 17194691
GO:0030049 muscle filament sliding TAS --
GO:0043462 regulation of ATPase activity IDA 17194691
genes like me logo Genes that share ontologies with TNNT3: view

No data available for SIGNOR curated interactions for TNNT3 Gene

Drugs & Compounds for TNNT3 Gene

(1) Drugs for TNNT3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with TNNT3: view

Transcripts for TNNT3 Gene

Unigene Clusters for TNNT3 Gene

Troponin T type 3 (skeletal, fast):
Representative Sequences:

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TNNT3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14
SP1: - -
SP2: - -
SP3: -
SP4:
SP5:

Relevant External Links for TNNT3 Gene

GeneLoc Exon Structure for
TNNT3
ECgene alternative splicing isoforms for
TNNT3

Expression for TNNT3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TNNT3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TNNT3 Gene

This gene is overexpressed in Muscle - Skeletal (x48.7).

Protein differential expression in normal tissues from HIPED for TNNT3 Gene

This gene is overexpressed in Tonsil (48.4), Esophagus (9.3), and Stomach (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TNNT3 Gene



NURSA nuclear receptor signaling pathways regulating expression of TNNT3 Gene:

TNNT3

SOURCE GeneReport for Unigene cluster for TNNT3 Gene:

Hs.73454

mRNA Expression by UniProt/SwissProt for TNNT3 Gene:

P45378-TNNT3_HUMAN
Tissue specificity: In fetal and adult fast skeletal muscles, with a higher level expression in fetal than in adult muscle.
genes like me logo Genes that share expression patterns with TNNT3: view

Primer Products

No data available for Protein tissue co-expression partners for TNNT3 Gene

Orthologs for TNNT3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TNNT3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TNNT3 35
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TNNT3 34 35
  • 90.05 (n)
dog
(Canis familiaris)
Mammalia TNNT3 34 35
  • 89.55 (n)
mouse
(Mus musculus)
Mammalia Tnnt3 34 16 35
  • 88.99 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TNNT3 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves TNNT3 34 35
  • 75.95 (n)
lizard
(Anolis carolinensis)
Reptilia TNNT3 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tnnt3 34
  • 76.21 (n)
MGC75764 34
African clawed frog
(Xenopus laevis)
Amphibia tnnt3a-prov 34
zebrafish
(Danio rerio)
Actinopterygii tnnt3b 34 35
  • 72.22 (n)
tnnt3a 35
  • 65 (a)
OneToMany
-- 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10451 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.963 35
  • 45 (a)
ManyToMany
CSA.10162 35
  • 42 (a)
ManyToMany
Species where no ortholog for TNNT3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TNNT3 Gene

ENSEMBL:
Gene Tree for TNNT3 (if available)
TreeFam:
Gene Tree for TNNT3 (if available)

Paralogs for TNNT3 Gene

Paralogs for TNNT3 Gene

genes like me logo Genes that share paralogs with TNNT3: view

Variants for TNNT3 Gene

Sequence variations from dbSNP and Humsavar for TNNT3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs121434638 Arthrogryposis, distal, 2B (DA2B) [MIM:601680], Pathogenic 1,933,737(+) GAAGC(A/G)TCAGA reference, missense
rs199474721 Pathogenic 1,933,736(+) AGAAG(C/T)GTCAG reference, missense
rs143255528 Likely benign 1,938,423(+) CACTT(C/G)CTTCC intron-variant
rs147535560 Likely benign 1,938,528(+) CCCTC(C/T)GCCCT utr-variant-3-prime
rs188811451 Likely benign 1,926,716(+) TACGC(C/T)GGCGC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for TNNT3 Gene

Variant ID Type Subtype PubMed ID
nsv951283 CNV deletion 24416366
nsv7644 CNV insertion 18451855
nsv7643 CNV deletion 18451855
nsv7213 OTHER inversion 18451855
nsv63 CNV insertion 15895083
nsv62 OTHER inversion 15895083
nsv61 CNV deletion 15895083
nsv553063 CNV loss 21841781
nsv553062 CNV loss 21841781
nsv553061 CNV loss 21841781
nsv553047 CNV gain 21841781
nsv522320 CNV loss 19592680
nsv516622 CNV loss 19592680
nsv513689 OTHER inversion 21212237
nsv475208 CNV novel sequence insertion 20440878
nsv469926 CNV loss 18288195
nsv467645 CNV gain 19166990
nsv436657 OTHER inversion 17901297
nsv1047474 CNV gain 25217958
nsv1039289 CNV gain 25217958
esv3349780 OTHER inversion 20981092
esv3332823 OTHER inversion 20981092
esv29980 CNV loss 17803354
esv2743979 CNV deletion 23290073
esv2615443 OTHER inversion 19546169
esv1011096 OTHER inversion 20482838
esv1007968 CNV insertion 20482838
esv1001997 OTHER inversion 20482838
dgv34n16 OTHER inversion 17901297
dgv132e201 CNV deletion 23290073

Variation tolerance for TNNT3 Gene

Residual Variation Intolerance Score: 42.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.45; 9.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TNNT3 Gene

Human Gene Mutation Database (HGMD)
TNNT3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TNNT3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TNNT3 Gene

Disorders for TNNT3 Gene

MalaCards: The human disease database

(11) MalaCards diseases for TNNT3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
arthrogryposis, distal, type 2b
  • arthrogryposis multiplex congenita, distal, type 2b
arthrogryposis multiplex congenita, distal, type 1
  • arthrogryposis multiplex congenita
tnnt3-related arthrogryposis multiplex congenita, distal, type 2b
arthrogryposis, distal, type 2a
  • distal arthrogryposis
arthrogryposis, distal, type 5
  • distal arthrogryposis type 5
- elite association - COSMIC cancer census association via MalaCards
Search TNNT3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TNNT3_HUMAN
  • Arthrogryposis, distal, 2B (DA2B) [MIM:601680]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2B is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. {ECO:0000269 PubMed:12865991}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TNNT3

Genetic Association Database (GAD)
TNNT3
Human Genome Epidemiology (HuGE) Navigator
TNNT3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TNNT3
genes like me logo Genes that share disorders with TNNT3: view

No data available for Genatlas for TNNT3 Gene

Publications for TNNT3 Gene

  1. Isolation and characterization of human fast skeletal beta troponin T cDNA: comparative sequence analysis of isoforms and insight into the evolution of members of a multigene family. (PMID: 8172653) Wu Q.-L. … Sarkar S. (DNA Cell Biol. 1994) 2 3 4 22 64
  2. Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot. (PMID: 19142688) Gurnett C.A. … Dobbs M.B. (Clin. Orthop. Relat. Res. 2009) 3 22 46 64
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A. … Murray J.C. (PLoS ONE 2010) 3 46 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for TNNT3 Gene

Sources for TNNT3 Gene

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