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TPM4 (tropomyosin)

Written2001-08Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Other alias
HGNC (Hugo) TPM4
LocusID (NCBI) 7171
Atlas_Id 359
Location 19p13.12  [Link to chromosome band 19p13]
Location_base_pair Starts at 16067507 and ends at 16103003 bp from pter ( according to hg19-Feb_2009)  [Mapping TPM4.png]
Fusion genes
(updated 2016)
ALK (2p23.2) / TPM4 (19p13.12)AVL9 (7p14.3) / TPM4 (19p13.12)EPS15L1 (19p13.11) / TPM4 (19p13.12)
FAM32A (19p13.12) / TPM4 (19p13.12)GSE1 (16q24.1) / TPM4 (19p13.12)NEK6 (9q33.3) / TPM4 (19p13.12)
TPM4 (19p13.12) / ALK (2p23.2)TPM4 (19p13.12) / CNNM2 (10q24.32)TPM4 (19p13.12) / INAFM1 (19q13.32)
TPM4 (19p13.12) / PROM1 (4p15.32)TPM4 (19p13.12) / SEC62 (3q26.2)TPM4 (19p13.12) / TBL1XR1 (3q26.32)
TPM4 (19p13.12) / WHAMM (15q25.2)

DNA/RNA

Transcription alternate transcripts

Protein

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

Note
  
Entity 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/Mutated Gene 5' CLTC - 3' ALK
Abnormal 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

Deciphering the design of the tropomyosin molecule.
Brown JH, Kim KH, Jun G, Greenfield NJ, Dominguez R, Volkmann N, Hitchcock-DeGregori SE, Cohen C
Proceedings of the National Academy of Sciences of the United States of America. 2001 ; 98 (15) : 8496-8501.
PMID 11438684
 
Recurrent involvement of 2p23 in inflammatory myofibroblastic tumors.
Griffin CA, Hawkins AL, Dvorak C, Henkle C, Ellingham T, Perlman EJ
Cancer research. 1999 ; 59 (12) : 2776-2780.
PMID 10383129
 
Aberrant ALK tyrosine kinase signaling. Different cellular lineages, common oncogenic mechanisms.
Ladanyi M
The American journal of pathology. 2000 ; 157 (2) : 341-345.
PMID 10934137
 
TPM3-ALK and TPM4-ALK oncogenes in inflammatory myofibroblastic tumors.
Lawrence B, Perez-Atayde A, Hibbard MK, Rubin BP, Dal Cin P, Pinkus JL, Pinkus GS, Xiao S, Yi ES, Fletcher CD, Fletcher JA
The American journal of pathology. 2000 ; 157 (2) : 377-384.
PMID 10934142
 
Tropomyosin and actin isoforms modulate the localization of tropomyosin strands on actin filaments.
Lehman W, Hatch V, Korman V, Rosol M, Thomas L, Maytum R, Geeves MA, Van Eyk JE, Tobacman LS, Craig R
Journal of molecular biology. 2000 ; 302 (3) : 593-606.
PMID 10986121
 

Citation

This paper should be referenced as such :
Huret, JL
TPM4 (tropomyosin )
Atlas Genet Cytogenet Oncol Haematol. 2001;5(4):273-273.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/TPM4ID359.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(2;19)(p23;p13) TPM4/ALK


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  Soft Tissues: Inflammatory myofibroblastic tumor
Soft tissue tumors: an overview
Soft Tissues: Inflammatory myofibroblastic tumor with t(2;19)(p23;p13) TPM4/ALK


External links

Nomenclature
HGNC (Hugo)TPM4   12013
Cards
AtlasTPM4ID359
Entrez_Gene (NCBI)TPM4  7171  tropomyosin 4
AliasesHEL-S-108
GeneCards (Weizmann)TPM4
Ensembl hg19 (Hinxton)ENSG00000167460 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167460 [Gene_View]  chr19:16067507-16103003 [Contig_View]  TPM4 [Vega]
ICGC DataPortalENSG00000167460
TCGA cBioPortalTPM4
AceView (NCBI)TPM4
Genatlas (Paris)TPM4
WikiGenes7171
SOURCE (Princeton)TPM4
Genetics Home Reference (NIH)TPM4
Genomic and cartography
GoldenPath hg38 (UCSC)TPM4  -     chr19:16067507-16103003 +  19p13.12-p13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TPM4  -     19p13.12-p13.11   [Description]    (hg19-Feb_2009)
EnsemblTPM4 - 19p13.12-p13.11 [CytoView hg19]  TPM4 - 19p13.12-p13.11 [CytoView hg38]
Mapping of homologs : NCBITPM4 [Mapview hg19]  TPM4 [Mapview hg38]
OMIM600317   
Gene and transcription
Genbank (Entrez)AF186109 AK023385 AK095546 AK096732 AK300136
RefSeq transcript (Entrez)NM_001145160 NM_003290
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TPM4
Cluster EST : UnigeneHs.665133 [ NCBI ]
CGAP (NCI)Hs.665133
Alternative Splicing GalleryENSG00000167460
Gene ExpressionTPM4 [ NCBI-GEO ]   TPM4 [ EBI - ARRAY_EXPRESS ]   TPM4 [ SEEK ]   TPM4 [ MEM ]
Gene Expression Viewer (FireBrowse)TPM4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7171
GTEX Portal (Tissue expression)TPM4
Protein : pattern, domain, 3D structure
UniProt/SwissProtP67936   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP67936  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP67936
Splice isoforms : SwissVarP67936
PhosPhoSitePlusP67936
Domaine pattern : Prosite (Expaxy)TROPOMYOSIN (PS00326)   
Domains : Interpro (EBI)Tropomyosin   
Domain families : Pfam (Sanger)Tropomyosin (PF00261)   
Domain families : Pfam (NCBI)pfam00261   
Conserved Domain (NCBI)TPM4
DMDM Disease mutations7171
Blocks (Seattle)TPM4
SuperfamilyP67936
Human Protein AtlasENSG00000167460
Peptide AtlasP67936
HPRD11734
IPIIPI00010779   IPI00216975   IPI00910322   
Protein Interaction databases
DIP (DOE-UCLA)P67936
IntAct (EBI)P67936
FunCoupENSG00000167460
BioGRIDTPM4
STRING (EMBL)TPM4
ZODIACTPM4
Ontologies - Pathways
QuickGOP67936
Ontology : AmiGOosteoblast differentiation  stress fiber  podosome  calcium ion binding  protein binding  cytosol  cytoskeleton  muscle thin filament tropomyosin  actin filament  focal adhesion  movement of cell or subcellular component  muscle contraction  muscle contraction  actin filament organization  structural constituent of muscle  membrane  muscle filament sliding  cortical cytoskeleton  filamentous actin  actin filament binding  extracellular exosome  
Ontology : EGO-EBIosteoblast differentiation  stress fiber  podosome  calcium ion binding  protein binding  cytosol  cytoskeleton  muscle thin filament tropomyosin  actin filament  focal adhesion  movement of cell or subcellular component  muscle contraction  muscle contraction  actin filament organization  structural constituent of muscle  membrane  muscle filament sliding  cortical cytoskeleton  filamentous actin  actin filament binding  extracellular exosome  
Pathways : KEGGCardiac muscle contraction    Adrenergic signaling in cardiomyocytes    Hypertrophic cardiomyopathy (HCM)    Dilated cardiomyopathy   
REACTOMEP67936 [protein]
REACTOME PathwaysR-HSA-445355 [pathway]   
NDEx NetworkTPM4
Atlas of Cancer Signalling NetworkTPM4
Wikipedia pathwaysTPM4
Orthology - Evolution
OrthoDB7171
GeneTree (enSembl)ENSG00000167460
Phylogenetic Trees/Animal Genes : TreeFamTPM4
HOVERGENP67936
HOGENOMP67936
Homologs : HomoloGeneTPM4
Homology/Alignments : Family Browser (UCSC)TPM4
Gene fusions - Rearrangements
Fusion : MitelmanFAM32A/TPM4 [19p13.12/19p13.12]  [t(19;19)(p13;p13)]  
Fusion : MitelmanGSE1/TPM4 [16q24.1/19p13.12]  [t(16;19)(q24;p13)]  
Fusion : MitelmanTPM4/ALK [19p13.12/2p23.2]  [t(2;19)(p23;p13)]  
Fusion : COSMICTPM4 [19p13.12]  -  ALK [2p23.2]  [fusion_441]  [fusion_442]  
Fusion: TCGAFAM32A 19p13.12 TPM4 19p13.12 OV
Fusion : TICdbTPM4 [19p13.12]  -  ALK [2p23.2]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTPM4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TPM4
dbVarTPM4
ClinVarTPM4
1000_GenomesTPM4 
Exome Variant ServerTPM4
ExAC (Exome Aggregation Consortium)TPM4 (select the gene name)
Genetic variants : HAPMAP7171
Genomic Variants (DGV)TPM4 [DGVbeta]
DECIPHERTPM4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTPM4 
Mutations
ICGC Data PortalTPM4 
TCGA Data PortalTPM4 
Broad Tumor PortalTPM4
OASIS PortalTPM4 [ Somatic mutations - Copy number]
Cancer Gene: CensusTPM4 
Somatic Mutations in Cancer : COSMICTPM4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTPM4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TPM4
DgiDB (Drug Gene Interaction Database)TPM4
DoCM (Curated mutations)TPM4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TPM4 (select a term)
intoGenTPM4
NCG5 (London)TPM4
Cancer3DTPM4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600317   
Orphanet18017   
MedgenTPM4
Genetic Testing Registry TPM4
NextProtP67936 [Medical]
TSGene7171
GENETestsTPM4
Target ValidationTPM4
Huge Navigator TPM4 [HugePedia]
snp3D : Map Gene to Disease7171
BioCentury BCIQTPM4
ClinGenTPM4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7171
Chemical/Pharm GKB GenePA36693
Clinical trialTPM4
Miscellaneous
canSAR (ICR)TPM4 (select the gene name)
Probes
Litterature
PubMed54 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTPM4
EVEXTPM4
GoPubMedTPM4
iHOPTPM4
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:17:02 CEST 2017

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.