TNNT3 (troponin T3, fast skeletal type)

2003-05-01  

Identity

HGNC
TNNT3
LOCATION
11p15.5
LOCUSID
7140
ALIAS
DA2B2,TNTF,beta-TnTF
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7140
MIM: 600692
HGNC: 11950
Ensembl: ENSG00000130595

Variants:

dbSNP: 7140
ClinVar: 7140
TCGA: ENSG00000130595
COSMIC: TNNT3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130595ENST00000278317P45378
ENSG00000130595ENST00000344578P45378
ENSG00000130595ENST00000381557F8WA37
ENSG00000130595ENST00000381558P45378
ENSG00000130595ENST00000381563P45378
ENSG00000130595ENST00000381579P45378
ENSG00000130595ENST00000381589P45378
ENSG00000130595ENST00000397301P45378
ENSG00000130595ENST00000397304H9KVA2
ENSG00000130595ENST00000446240C9JZN9
ENSG00000130595ENST00000453458C9JCA5
ENSG00000130595ENST00000641119P45378
ENSG00000130595ENST00000641225A0A286YFB1
ENSG00000130595ENST00000641787P45378

Expression (GTEx)

0
500
1000
1500
2000
2500
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Muscle contractionREACTOMER-HSA-397014
Striated Muscle ContractionREACTOMER-HSA-390522

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
347663722021The distal arthrogryposis-linked p.R63C variant promotes the stability and nuclear accumulation of TNNT3.1
347663722021The distal arthrogryposis-linked p.R63C variant promotes the stability and nuclear accumulation of TNNT3.1
295968682018Troponin T3 associates with DNA consensus sequence that overlaps with p53 binding motifs.5
295968682018Troponin T3 associates with DNA consensus sequence that overlaps with p53 binding motifs.5
267747982016TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and structure-function relationships.93
269159362016Digitotalar dysmorphism: Molecular elucidation.0
267747982016TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and structure-function relationships.93
269159362016Digitotalar dysmorphism: Molecular elucidation.0
214021852011A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus.14
214021852011A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus.14
200664282010Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2.29
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.28
200664282010Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2.29
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15

Citation

Dessen P

TNNT3 (troponin T3, fast skeletal type)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/42646/tnnt3-(troponin-t3-fast-skeletal-type)