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Aliases for TPM3 Gene

Aliases for TPM3 Gene

  • Tropomyosin 3 2 3 5
  • Tropomyosin-5 3 4
  • Epididymis Secretory Sperm Binding Protein Li 82p 3
  • Heat-Stable Cytoskeletal Protein 30 KDa 3
  • Alpha-Tropomyosin, Slow Skeletal 3
  • Epididymis Luminal Protein 189 3
  • Cytoskeletal Tropomyosin TM30 3
  • Tropomyosin Alpha-3 Chain 3
  • Tropomyosin Gamma 3
  • Gamma-Tropomyosin 4
  • Tropomyosin-3 4
  • OK/SW-Cl.5 3
  • HEL-S-82p 3
  • HEL-189 3
  • TM30nm 3
  • TPMsk3 3
  • Hscp30 3
  • CAPM1 3
  • CFTD 3
  • NEM1 3
  • TM-5 3
  • TM30 3
  • HTM5 4
  • TRK 3
  • TM3 3
  • TM5 3

External Ids for TPM3 Gene

Previous HGNC Symbols for TPM3 Gene

  • NEM1

Previous GeneCards Identifiers for TPM3 Gene

  • GC01U990171
  • GC01M149859
  • GC01M150904
  • GC01M151345
  • GC01M150941
  • GC01M152395
  • GC01M125491

Summaries for TPM3 Gene

Entrez Gene Summary for TPM3 Gene

  • This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

GeneCards Summary for TPM3 Gene

TPM3 (Tropomyosin 3) is a Protein Coding gene. Diseases associated with TPM3 include Nemaline Myopathy 1, Autosomal Dominant Or Recessive and Myopathy, Congenital, With Fiber-Type Disproportion. Among its related pathways are Cardiac muscle contraction and Striated Muscle Contraction. GO annotations related to this gene include actin binding. An important paralog of this gene is TPM4.

UniProtKB/Swiss-Prot for TPM3 Gene

  • Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments.

Gene Wiki entry for TPM3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TPM3 Gene

Genomics for TPM3 Gene

Regulatory Elements for TPM3 Gene

Enhancers for TPM3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F154333 1.2 Ensembl ENCODE 10.3 -140.0 -140043 2.2 PKNOX1 ARID4B SIN3A ZNF48 YY1 ZNF121 ZNF143 REST PPARG KAT8 UBE2Q1 LOC101928101 IL6R ENSG00000201129 UBAP2L MIR190B TPM3 C1orf189 UBE2Q1-AS1 ATP8B2
GH01F154479 1.2 Ensembl ENCODE 9.2 -285.4 -285353 0.8 TBL1XR1 ARNT WRNIP1 SIN3A ARID4B ZNF2 RAD21 RFX5 CHAMP1 YY1 IL6R UBE2Q1-AS1 UBE2Q1 SHE TDRD10 LOC101928101 CHRNB2 RNU7-57P ATP8B2 ENSG00000201129
GH01F154477 0.9 Ensembl ENCODE 9.2 -283.7 -283664 2.2 CTCF MTA2 MAX TRIM22 REST RAD21 ZNF664 RAD51 SMC3 ZNF24 SHE UBE2Q1-AS1 UBE2Q1 TDRD10 LOC101928101 IL6R CHRNB2 RNU7-57P ATP8B2 ENSG00000201129
GH01F153821 0.6 ENCODE 9.2 +373.1 373149 0.1 CTCF ZNF654 REST RAD21 ZNF664 SMC3 ZNF600 MLLT1 GATAD2B DENND4B CRTC2 RPS27 RAB13 RPL34P5 CREB3L4 SLC39A1 JTB UBAP2L
GH01F154148 1 Ensembl ENCODE 5.4 +45.7 45748 1.4 HDGF MTA2 NR2F1 CEBPB JUNB ZNF384 OSR2 ZNF316 IKZF1 EED TPM3 NUP210L MIR5698
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TPM3 on UCSC Golden Path with GeneCards custom track

Genomic Location for TPM3 Gene

Chromosome:
1
Start:
154,155,304 bp from pter
End:
154,194,648 bp from pter
Size:
39,345 bases
Orientation:
Minus strand

Genomic View for TPM3 Gene

Genes around TPM3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TPM3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TPM3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TPM3 Gene

Proteins for TPM3 Gene

  • Protein details for TPM3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P06753-TPM3_HUMAN
    Recommended name:
    Tropomyosin alpha-3 chain
    Protein Accession:
    P06753
    Secondary Accessions:
    • D3DV71
    • P12324
    • Q2QD06
    • Q5VU58
    • Q5VU63
    • Q5VU66
    • Q5VU71
    • Q5VU72
    • Q8TCG3
    • Q969Q2
    • Q9NQH8

    Protein attributes for TPM3 Gene

    Size:
    285 amino acids
    Molecular mass:
    32950 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta chain. Binds to TMOD1.

    Alternative splice isoforms for TPM3 Gene

neXtProt entry for TPM3 Gene

Post-translational modifications for TPM3 Gene

  • Ubiquitination at Lys 13, Lys 169, and Lys 228
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for TPM3 Gene

Domains & Families for TPM3 Gene

Gene Families for TPM3 Gene

Protein Domains for TPM3 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P06753

UniProtKB/Swiss-Prot:

TPM3_HUMAN :
  • The molecule is in a coiled coil structure that is formed by 2 polypeptide chains. The sequence exhibits a prominent seven-residues periodicity.
  • Belongs to the tropomyosin family.
Domain:
  • The molecule is in a coiled coil structure that is formed by 2 polypeptide chains. The sequence exhibits a prominent seven-residues periodicity.
Family:
  • Belongs to the tropomyosin family.
genes like me logo Genes that share domains with TPM3: view

Function for TPM3 Gene

Molecular function for TPM3 Gene

GENATLAS Biochemistry:
tropomyosin 3,alpha,skeletal muscle and non muscle isoforms (involved in the generation of the TRK oncogene by fusion with NTRK1,dimerizing to form a helical coiled coil binding to actin in the troponin complex (thin filamant) that regulates calcium-dependent binding of actin and myosin and muscle contraction
UniProtKB/Swiss-Prot Function:
Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments.

Gene Ontology (GO) - Molecular Function for TPM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 16189514
GO:0008307 structural constituent of muscle IBA --
GO:0051015 actin filament binding IBA --
genes like me logo Genes that share ontologies with TPM3: view
genes like me logo Genes that share phenotypes with TPM3: view

Human Phenotype Ontology for TPM3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TPM3 Gene

MGI Knock Outs for TPM3:

Animal Model Products

miRNA for TPM3 Gene

miRTarBase miRNAs that target TPM3

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TPM3 Gene

Localization for TPM3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TPM3 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TPM3 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
cytosol 5
nucleus 2
plasma membrane 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TPM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IDA 16236705
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton TAS 16130169
GO:0005862 muscle thin filament tropomyosin TAS 3018581
genes like me logo Genes that share ontologies with TPM3: view

Pathways & Interactions for TPM3 Gene

genes like me logo Genes that share pathways with TPM3: view

Gene Ontology (GO) - Biological Process for TPM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006928 movement of cell or subcellular component TAS 16130169
GO:0006936 muscle contraction TAS --
GO:0007015 actin filament organization IBA --
GO:0030049 muscle filament sliding TAS --
genes like me logo Genes that share ontologies with TPM3: view

No data available for SIGNOR curated interactions for TPM3 Gene

Drugs & Compounds for TPM3 Gene

(2) Drugs for TPM3 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with TPM3: view

Transcripts for TPM3 Gene

Unigene Clusters for TPM3 Gene

Tropomyosin 3:
Representative Sequences:

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TPM3 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13
SP1: - - -
SP2:
SP3: -
SP4: -
SP5: -
SP6:

Relevant External Links for TPM3 Gene

GeneLoc Exon Structure for
TPM3
ECgene alternative splicing isoforms for
TPM3

Expression for TPM3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TPM3 Gene

mRNA differential expression in normal tissues according to GTEx for TPM3 Gene

This gene is overexpressed in Muscle - Skeletal (x16.2) and Whole Blood (x4.4).

Protein differential expression in normal tissues from HIPED for TPM3 Gene

This gene is overexpressed in Liver, secretome (6.8) and Peripheral blood mononuclear cells (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TPM3 Gene



Protein tissue co-expression partners for TPM3 Gene

NURSA nuclear receptor signaling pathways regulating expression of TPM3 Gene:

TPM3

SOURCE GeneReport for Unigene cluster for TPM3 Gene:

Hs.644306
genes like me logo Genes that share expression patterns with TPM3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for TPM3 Gene

Orthologs for TPM3 Gene

This gene was present in the common ancestor of animals.

Orthologs for TPM3 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia TPM3 35
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TPM3 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TPM3 35
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TPM3 34 35
  • 96.24 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TPM3 35
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tpm3 34 16 35
  • 84.74 (n)
chicken
(Gallus gallus)
Aves TPM3 35
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 100 (a)
OneToMany
-- 35
  • 88 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.34726 34
zebrafish
(Danio rerio)
Actinopterygii tpma 35
  • 93 (a)
OneToOne
tpm3 34
  • 81.69 (n)
fruit fly
(Drosophila melanogaster)
Insecta Tm2 35
  • 46 (a)
ManyToMany
Tm1 35
  • 22 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea lev-11 35
  • 59 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11015 35
  • 74 (a)
ManyToMany
CSA.10371 35
  • 67 (a)
ManyToMany
Species where no ortholog for TPM3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for TPM3 Gene

ENSEMBL:
Gene Tree for TPM3 (if available)
TreeFam:
Gene Tree for TPM3 (if available)

Paralogs for TPM3 Gene

Variants for TPM3 Gene

Sequence variations from dbSNP and Humsavar for TPM3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs121964852 Nemaline myopathy 1 (NEM1) [MIM:609284], Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310], Cap myopathy 1 (CAPM1) [MIM:609284], Pathogenic 154,172,971(-) GGCTC(A/G)TAAGT nc-transcript-variant, reference, missense
rs121964853 Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310], Pathogenic 154,176,194(-) AAGAG(A/C)TGGAC intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs121964854 Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310], Nemaline myopathy 1 (NEM1) [MIM:609284], Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310], Cap myopathy 1 (CAPM1) [MIM:609284], Pathogenic 154,172,972(-) TGGCT(C/G/T)GTAAG nc-transcript-variant, reference, missense
rs199474711 Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310], Pathogenic 154,192,008(-) GGAGG(C/T)CATCA nc-transcript-variant, reference, missense
rs199474713 Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310], Pathogenic 154,176,220(-) GAACC(C/G)TAGGA intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for TPM3 Gene

Variant ID Type Subtype PubMed ID
nsv946404 CNV duplication 23825009
nsv520398 CNV gain+loss 19592680
nsv1119725 CNV deletion 24896259
nsv1000153 CNV gain 25217958
esv3587601 CNV loss 21293372
esv29020 CNV loss 19812545
esv2663393 CNV deletion 23128226

Variation tolerance for TPM3 Gene

Residual Variation Intolerance Score: 26.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.14; 23.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TPM3 Gene

Human Gene Mutation Database (HGMD)
TPM3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TPM3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TPM3 Gene

Disorders for TPM3 Gene

MalaCards: The human disease database

(19) MalaCards diseases for TPM3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
nemaline myopathy 1, autosomal dominant or recessive
  • cap myopathy 1
myopathy, congenital, with fiber-type disproportion
  • myopathy, congenital, with fiber-type disproportion 1
cap myopathy
  • cap disease
intermediate congenital nemaline myopathy
  • intermediate congenital nm
congenital fiber-type disproportion
  • cftdm
- elite association - COSMIC cancer census association via MalaCards
Search TPM3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TPM3_HUMAN
  • Cap myopathy 1 (CAPM1) [MIM:609284]: A rare congenital skeletal muscle disorder characterized by the presence of cap-like structures which are well demarcated and peripherally located under the sarcolemma and show abnormal accumulation of sarcomeric proteins. Clinical features are early onset of hypotonia and slowly progressive muscle weakness. Respiratory problems are common. {ECO:0000269 PubMed:18300303, ECO:0000269 PubMed:19487656, ECO:0000269 PubMed:19553118, ECO:0000269 PubMed:24239060, ECO:0000269 PubMed:24692096}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]: A genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. {ECO:0000269 PubMed:18300303, ECO:0000269 PubMed:19953533, ECO:0000269 PubMed:20951040, ECO:0000269 PubMed:24692096}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Nemaline myopathy 1 (NEM1) [MIM:609284]: A form of nemaline myopathy with autosomal dominant or recessive inheritance. Nemaline myopathies are disorders characterized by muscle weakness of varying onset and severity, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Autosomal dominant NEM1 is characterized by a moderate phenotype with onset between birth and early second decade of life. Weakness is diffuse and symmetric with slow progression often with need for a wheelchair in adulthood. The autosomal recessive form has onset at birth with moderate to severe hypotonia and diffuse weakness. In the most severe cases, death can occur before 2 years. Less severe cases have delayed major motor milestones, and these patients may walk, but often need a wheelchair before 10 years. {ECO:0000269 PubMed:17376686, ECO:0000269 PubMed:24692096, ECO:0000269 PubMed:7704029}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving TPM3 is found in papillary thyroid carcinomas (PTCs). A rearrangement with NTRK1 generates the TRK fusion transcript by fusing the amino end of isoform 2 of TPM3 to the 3-end of NTRK1. {ECO:0000269 PubMed:2869410}.

Relevant External Links for TPM3

Genetic Association Database (GAD)
TPM3
Human Genome Epidemiology (HuGE) Navigator
TPM3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TPM3
genes like me logo Genes that share disorders with TPM3: view

No data available for Genatlas for TPM3 Gene

Publications for TPM3 Gene

  1. Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. (PMID: 19953533) Lawlor M.W. … Beggs A.H. (Hum. Mutat. 2010) 3 4 22 64
  2. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. (PMID: 7704029) Laing N.G. … Haan E. (Nat. Genet. 1995) 3 4 22 64
  3. Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. (PMID: 24692096) Marttila M. … Wallgren-Pettersson C. (Hum. Mutat. 2014) 3 4 64
  4. Novel TPM3 mutation in a family with cap myopathy and review of the literature. (PMID: 24239060) Schreckenbach T. … Claeys K.G. (Neuromuscul. Disord. 2013) 3 4 64
  5. Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia. (PMID: 20951040) Munot P. … Muntoni F. (Neuromuscul. Disord. 2010) 3 4 64

Products for TPM3 Gene

Sources for TPM3 Gene

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