TPM4 (tropomyosin)

2001-08-01   Jean-Loup Huret 

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

Identity

HGNC
LOCATION
19p13.12
LOCUSID
ALIAS
HEL-S-108
FUSION GENES

DNA/RNA

Transcription

alternate transcripts

Proteins

Description

248 amino acids, 29 kDa. Coiled-coil structure

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 TPM3 located in 1q25

Implicated in

Entity name
Inflammatory myofibroblastic tumors with t(2;19)(p23;p13.1)
Disease
rare soft tissue tumour found in children and young adults
Prognosis
good prognosis
Hybrid gene
5 CLTC - 3 ALK
Fusion protein
221 N-term amino acids from TPM4 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
TPM4-ALK is contitutively activated

Bibliography

Pubmed IDLast YearTitleAuthors
114386842001Deciphering the design of the tropomyosin molecule.Brown JH 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
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

Other Information

Locus ID:

NCBI: 7171
MIM: 600317
HGNC: 12013
Ensembl: ENSG00000167460

Variants:

dbSNP: 7171
ClinVar: 7171
TCGA: ENSG00000167460
COSMIC: TPM4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167460ENST00000586499K7ERG3
ENSG00000167460ENST00000586833K7ENT6
ENSG00000167460ENST00000588032K7EPB9
ENSG00000167460ENST00000589897K7ELP0
ENSG00000167460ENST00000642221A0A2R8YE05
ENSG00000167460ENST00000642789A0A2R8YEU4
ENSG00000167460ENST00000643494A0A2R8YGX3
ENSG00000167460ENST00000643579P67936
ENSG00000167460ENST00000643579V9HW56
ENSG00000167460ENST00000645471A0A2R8Y5V9
ENSG00000167460ENST00000646575A0A2R8YH90
ENSG00000167460ENST00000646974P67936
ENSG00000167460ENST00000647037A0A2R8Y5V9
ENSG00000167460ENST00000647464A0A2R8YHD2
ENSG00000167460ENST00000653979A0A590UKD0
ENSG00000167460ENST00000659595A0A590UK79
ENSG00000167460ENST00000670382A0A590UJB9

Expression (GTEx)

0
500
1000
1500

Pathways

PathwaySourceExternal ID
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

References

Pubmed IDYearTitleCitations
237928232013Protein isoform-specific validation defines multiple chloride intracellular channel and tropomyosin isoforms as serological biomarkers of ovarian cancer.26
203810702010Sex-specific proteome differences in the anterior cingulate cortex of schizophrenia.22
211196652011Differential expression of ANXA6, HSP27, PRDX2, NCF2, and TPM4 during uterine cervix carcinogenesis: diagnostic and prognostic value.18
268477122016Load-dependent modulation of non-muscle myosin-2A function by tropomyosin 4.2.15
281346222017Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia.15
179689842008Tropomyosin 4 defines novel filaments in skeletal muscle associated with muscle remodelling/regeneration in normal and diseased muscle.14
225376212012Peroxiredoxins and tropomyosins as plasma biomarkers for lung cancer and asbestos exposure.14
294550302018The clinical significance and biological function of tropomyosin 4 in colon cancer.5
238127292013Tropomyosin-4 correlates with higher SBR grades and tubular differentiation in infiltrating ductal breast carcinomas: an immunohistochemical and proteomics-based study.4
284313932017Loss of Tpm4.1 leads to disruption of cell-cell adhesions and invasive behavior in breast epithelial cells via increased Rac1 signaling.3

Citation

Jean-Loup Huret

TPM4 (tropomyosin)

Atlas Genet Cytogenet Oncol Haematol. 2001-08-01

Online version: http://atlasgeneticsoncology.org/gene/359/tpm4