TPM3 (tropomyosin 3)

2001-08-01   Jean-Loup Huret  

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
TPM3
LOCATION
1q21.3
IMAGE
Atlas Image
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
7170
ALIAS
CAPM1,CFTD,HEL-189,HEL-S-82p,NEM1,OK/SW-cl.5,TM-5,TM3,TM30,TM30nm,TM5,TPM3nu,TPMsk3,TRK,hscp30
FUSION GENES
Show Gene Fusions

DNA/RNA

Description

spans at least 42 kb; 13 exons

Proteins

Function

Tropomyosins are actin-binding proteins; component of cytoskeletal microfilaments; tropomyosins mediate the effect of Ca2+ on the myosin-actin interaction In skeletal muscles, but their function in smooth muscles and other tissues is yet unknown

Homology

Other tropomyosins: TPM1 (alpha) located in 15q22, TPM2 (beta), located in 9q13, and TPM4 located in 19p13.1

Implicated in

Entity name
rare cases of ALK+ anaplasic large cell lymphoma (ALCL) with t(1;2)(q25;p23)
Disease
ALCL presents as an aggressive lymphoma with systemic signs
Prognosis
nonetheless, have a favourable prognosis
Hybrid gene
5 CLTC - 3 ALK
Fusion protein
104 kDa ; 221 N-term amino acids from TPM3 fused to the 562 C-term amino acids from ALK (i.e. the entire cytoplasmic portion of ALK with the tyrosine kinase domain); homodimerization of the fusion protein.
Oncogenesis
TPM3-ALK is contitutively activated
Entity name
cases of Inflammatory myofibroblastic tumors with t(1;2)(q25;p23)
Disease
rare soft tissue tumour found in children and young adults
Prognosis
good prognosis
Hybrid gene
5 CLTC - 3 ALK
Fusion protein
104 kDa ; 221 N-term amino acids from TPM3 fused to the 562 C-term amino acids from ALK (i.e. the entire cytoplasmic portion of ALK with the tyrosine kinase domain); homodimerization of the fusion protein.
Oncogenesis
TPM3-ALK is contitutively activated
Entity name
papillary thyroid carcinoma
Disease
represents about 60% of thyroid cancers; small, undetectable, chromosome 1q inversions have shown to produce a TPM3-NTRK1 hybrid gene in a very few cases of papillary thyroid carcinoma.
Prognosis
prognosis of papillary thyroid carcinoma is excellent
Hybrid gene
5 TPM3 - 3 NTRK1
Fusion protein
221 N-term amino acids from PM3 fused to the C-term of NTRK1, including its tyrosine kinase domain

Breakpoints

Atlas Image

Article Bibliography

Pubmed IDLast YearTitleAuthors
114386842001Deciphering the design of the tropomyosin molecule.Brown JH et al
75907421995A sequence analysis of the genomic regions involved in the rearrangements between TPM3 and NTRK1 genes producing TRK oncogenes in papillary thyroid carcinomas.Butti MG et al
103831291999Recurrent involvement of 2p23 in inflammatory myofibroblastic tumors.Griffin CA et al
109341372000Aberrant ALK tyrosine kinase signaling. Different cellular lineages, common oncogenic mechanisms.Ladanyi M et al
102161061999A new fusion gene TPM3-ALK in anaplastic large cell lymphoma created by a (1;2)(q25;p23) translocation.Lamant L et al
109341422000TPM3-ALK and TPM4-ALK oncogenes in inflammatory myofibroblastic tumors.Lawrence B et al
109861212000Tropomyosin and actin isoforms modulate the localization of tropomyosin strands on actin filaments.Lehman W et al
28694101986A human oncogene formed by the fusion of truncated tropomyosin and protein tyrosine kinase sequences.Martin-Zanca D et al
106101191999Complex variant translocation t(1;2) with TPM3-ALK fusion due to cryptic ALK gene rearrangement in anaplastic large-cell lymphoma.Siebert R et al

Other Information

Locus ID:

NCBI: 7170
MIM: 191030
HGNC: 12012
Ensembl: ENSG00000143549

Variants:

dbSNP: 7170
ClinVar: 7170
TCGA: ENSG00000143549
COSMIC: TPM3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143549ENST00000271850J3KN67
ENSG00000143549ENST00000302206P06753
ENSG00000143549ENST00000323144P06753
ENSG00000143549ENST00000328159P06753
ENSG00000143549ENST00000330188P06753
ENSG00000143549ENST00000330188A0A0S2Z4I4
ENSG00000143549ENST00000341372Q5VU61
ENSG00000143549ENST00000341485P06753
ENSG00000143549ENST00000368530A0A2R2Y2Q3
ENSG00000143549ENST00000368531P06753
ENSG00000143549ENST00000368533P06753
ENSG00000143549ENST00000368533A0A0S2Z4G4
ENSG00000143549ENST00000509409Q5VU61
ENSG00000143549ENST00000509601D6R904
ENSG00000143549ENST00000515609D6RGJ6
ENSG00000143549ENST00000611659A0A087WWU8
ENSG00000143549ENST00000651641P06753
ENSG00000143549ENST00000651644A0A494C0P6
ENSG00000143549ENST00000651731A0A494C034
ENSG00000143549ENST00000651873A0A494C0G0

Expression (GTEx)

0
100
200
300
400
500
600
700
800
900
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
Thyroid cancerKEGGko05216
Pathways in cancerKEGGhsa05200
Thyroid cancerKEGGhsa05216
Cardiac muscle contractionKEGGhsa04260
Cardiac muscle contractionKEGGko04260
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
Muscle contractionREACTOMER-HSA-397014
Striated Muscle ContractionREACTOMER-HSA-390522
Smooth Muscle ContractionREACTOMER-HSA-445355

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
381852332024Myopathy-causing mutation R91P in the TPM3 gene drastically impairs structural and functional properties of slow skeletal muscle tropomyosin γβ-heterodimer.0
382192972024Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.0
382403472024RNF20 Regulates Oocyte Meiotic Spindle Assembly by Recruiting TPM3 to Centromeres and Spindle Poles.1
389285032024The Role of TPM3 in Protecting Cardiomyocyte from Hypoxia-Induced Injury via Cytoskeleton Stabilization.0
381852332024Myopathy-causing mutation R91P in the TPM3 gene drastically impairs structural and functional properties of slow skeletal muscle tropomyosin γβ-heterodimer.0
382192972024Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.0
382403472024RNF20 Regulates Oocyte Meiotic Spindle Assembly by Recruiting TPM3 to Centromeres and Spindle Poles.1
389285032024The Role of TPM3 in Protecting Cardiomyocyte from Hypoxia-Induced Injury via Cytoskeleton Stabilization.0
368802462023[Effects of tropomyosin 3 on pyroptosis of cardiomyocytes and fibroblast activation induced by hypoxia/reoxygenation in rats].0
380033362023A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype.0
380036452023Troponin and a Myopathy-Linked Mutation in TPM3 Inhibit Cofilin-2-Induced Thin Filament Depolymerization.0
368802462023[Effects of tropomyosin 3 on pyroptosis of cardiomyocytes and fibroblast activation induced by hypoxia/reoxygenation in rats].0
380033362023A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype.0
380036452023Troponin and a Myopathy-Linked Mutation in TPM3 Inhibit Cofilin-2-Induced Thin Filament Depolymerization.0
352875462022PolyC-RNA-binding protein 1 (PCBP1) enhances tropomyosin 3 (TPM3) mRNA stability to promote the progression of esophageal squamous cell carcinoma.1

Citation

Jean-Loup Huret

TPM3 (tropomyosin 3)

Atlas Genet Cytogenet Oncol Haematol. 2001-08-01

Online version: http://atlasgeneticsoncology.org/gene/225/tpm3-(tropomyosin-3)