TNNT3 (troponin T3, fast skeletal type)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7140
Gene name Gene Name - the full gene name approved by the HGNC.
Troponin T3, fast skeletal type
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TNNT3
Synonyms (NCBI Gene) Gene synonyms aliases
DA2B2, TNTF, beta-TnTF
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.5
Summary Summary of gene provided in NCBI Entrez 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 fila
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs121434638 G>A Pathogenic Coding sequence variant, 5 prime UTR variant, missense variant
rs199474721 C>T Pathogenic, likely-pathogenic, not-provided Coding sequence variant, 5 prime UTR variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
miRTarBase ID miRNA Experiments Reference
MIRT2354018 hsa-miR-1184 CLIP-seq
MIRT2354019 hsa-miR-1205 CLIP-seq
MIRT2354020 hsa-miR-1301 CLIP-seq
MIRT2354021 hsa-miR-27a CLIP-seq
MIRT2354022 hsa-miR-27b CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(24)
GO ID Ontology Definition Evidence Reference
GO:0003009 Process Skeletal muscle contraction IBA
GO:0003009 Process Skeletal muscle contraction IDA 17194691
GO:0003779 Function Actin binding IDA 17194691
GO:0005523 Function Tropomyosin binding IBA
GO:0005523 Function Tropomyosin binding IDA 9724539
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600692 11950 ENSG00000130595
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P45378
Protein name Troponin T, fast skeletal muscle (TnTf) (Beta-TnTF) (Fast skeletal muscle troponin T) (fTnT)
Protein 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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00992 Troponin 73 → 209 Troponin Family
Tissue specificity TISSUE SPECIFICITY: In fetal and adult fast skeletal muscles, with a higher level expression in fetal than in adult muscle.
Sequence 
MSDEEVEQVEEQYEEEEEAQEEAAEVHEEVHEPEEVQEDTAEEDAEEEKPRPKLTAPKIP
EGEKVDFDDIQKKRQNKDLMELQALIDSHFEARKKEEEELVALKERIEKRRAERAEQQRI
RAEKERERQNRLAEEKARREEEDAKRRAEDDLKKKKALSSMGANYSSYLAKADQKRGKKQ
TAREMKKKILAERRKPLNIDHLGEDKLRDKAKELWETLHQLEIDKFEFGEKLKRQKYDIT
TLRSRIDQAQKHSKKAGTPAKGKVGGRWK
Sequence length 269
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Motor proteins
Cytoskeleton in muscle cells 		  Striated Muscle Contraction
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Distal arthrogryposis Arthrogryposis, distal, type 2B2 rs121434638, rs199474721 N/A
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
arthrogryposis multiplex congenita Arthrogryposis multiplex congenita N/A N/A ClinVar
Arthrogryposis multiplex congenita distal arthrogryposis type 2B1 N/A N/A GenCC
Breast cancer Breast cancer N/A N/A GWAS
Hypertension Hypertension N/A N/A GWAS
Show/Hide Text Mining Associations (13)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arthrogryposis multiplex congenita distal type 1 Associate 17103435, 19142688, 21834041, 29266598, 34766372
Breast Neoplasms Associate 20453838, 32366738
Clubfoot Associate 21834041
Contracture Associate 21834041
Distal arthrogryposis type 2B Associate 19142688
Fetal akinesia syndrome X linked Associate 32779773
Freeman Sheldon syndrome Associate 19142688
Laryngeal Neoplasms Associate 36701711
Myopathies Nemaline Associate 29266598
Myotonic Dystrophy Associate 20066428