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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TPM3 Gene

protein-coding   GIFtS: 69
GCID: GC01M154127

Tropomyosin 3


(Previous symbol: NEM1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Tropomyosin 31 2     Alpha-Tropomyosin, Slow Skeletal2
NEM11 2 5     Cytoskeletal Tropomyosin TM302
CAPM12     Heat-Stable Cytoskeletal Protein 30 KDa2
CFTD2     hscp302
OK/SW-cl.52     Tropomyosin Alpha-3 Chain2
TM-52     Tropomyosin Gamma2
TM32     tropomyosin-52
TM302     Gamma-tropomyosin3
TM30nm2     Tropomyosin-33
TM52     Tropomyosin-53
TPMsk32     hTM53
TRK2     

External Ids:    HGNC: 120121   Entrez Gene: 71702   Ensembl: ENSG000001435497   OMIM: 1910305   UniProtKB: P067533   

Export aliases for TPM3 gene to outside databases

Previous GC identifers: GC01U990171 GC01M149859 GC01M150904 GC01M151345 GC01M150941 GC01M152395 GC01M125491


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 cap myopathy, and nemaline myopathy 1, and among its related super-pathways are Muscle contraction and Dilated cardiomyopathy. GO annotations related to this gene include actin binding and molecular_function. An important paralog of this gene is TPM1.

UniProtKB/Swiss-Prot: TPM3_HUMAN, P06753
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 Wiki entry for TPM3 (Tropomyosin 3) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TPM3 gene promoter:
         POU3F1   ARP-1   Zic3   Pax-4a   MRF-2   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TPM3 promoter sequence
   Search SABiosciences Chromatin IP Primers for TPM3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TPM3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21.2   Ensembl cytogenetic band:  1q21.3   HGNC cytogenetic band: 1q21.2

TPM3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TPM3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M154127:  view genomic region     (about GC identifiers)

Start:
154,127,780 bp from pter      End:
154,167,124 bp from pter
Size:
39,345 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TPM3_HUMAN, P06753 (See protein sequence)
Recommended Name: Tropomyosin alpha-3 chain  
Size: 285 amino acids; 32950 Da
Subunit: Heterodimer of an alpha and a beta chain. Binds to TMOD1
Subcellular location: Cytoplasm, cytoskeleton
Caution: It is uncertain whether Met-1 or Met-2 is the initiator
Secondary accessions: D3DV71 P12324 Q2QD06 Q5VU66 Q5VU71 Q5VU72 Q969Q2 Q9NQH8
Alternative splicing: 5 isoforms:  P06753-1   P06753-2   P06753-3   P06753-4   P06753-5   (Gene prediction based on EST data. Contains a N6-acetyllysine at position 215)

Explore the universe of human proteins at neXtProt for TPM3: NX_P06753

Explore proteomics data for TPM3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P06753

  • TPM3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TPM3 Protein Expression
    REFSEQ proteins (9 alternative transcripts): 
    NP_001036816.1  NP_001036817.1  NP_001036818.1  NP_001265117.1  NP_001265118.1  NP_001265119.1  NP_001265120.1  NP_689476.2  
    NP_705935.1  

    ENSEMBL proteins: 
     ENSP00000357521   ENSP00000339035   ENSP00000341653   ENSP00000339378   ENSP00000357520  
     ENSP00000426521   ENSP00000271850   ENSP00000307712   ENSP00000357517   ENSP00000357518  
     ENSP00000357516   ENSP00000422207   ENSP00000426306  
    Reactome Protein details: P06753
    Human Recombinant Protein Products for TPM3: 
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    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for TPM3
    Cloud-Clone Corp. Proteins for TPM3 

    Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001725stress fiber IDA16236705
    GO:0002102podosome IEA--
    GO:0005604basement membrane ----
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--

    TPM3 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    TPM: Tropomyosins

    1 InterPro protein domain:
     IPR000533 Tropomyosin

    Graphical View of Domain Structure for InterPro Entry P06753

    ProtoNet protein and cluster: P06753

    1 Blocks protein domain: IPB000533 Tropomyosin

    UniProtKB/Swiss-Prot: TPM3_HUMAN, P06753
    Domain: The molecule is in a coiled coil structure that is formed by 2 polypeptide chains. The sequence exhibits a
    prominent seven-residues periodicity
    Similarity: Belongs to the tropomyosin family


    TPM3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TPM3_HUMAN, P06753
    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

         Genatlas biochemistry entry for TPM3:
    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

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0003779actin binding IEA--
         
    TPM3 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Tpm3):
     mortality/aging  nervous system 

    TPM3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TPM3: Tpm3tm1Pgun Tpm3tm2Pgun

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TPM3 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TPM3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TPM3 

    miRNA
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    miRTarBase miRNAs that target TPM3:
    hsa-mir-16 (MIRT001403), hsa-mir-1 (MIRT001325)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TPM3
    8/120 QIAGEN miScript miRNA Assays for microRNAs that regulate TPM3 (see all 120):
    hsa-miR-194* hsa-miR-3130-5p hsa-miR-3194-5p hsa-miR-607 hsa-miR-640 hsa-miR-3938 hsa-miR-1321 hsa-miR-4272
    SwitchGear 3'UTR luciferase reporter plasmidTPM3 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TPM3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Striated Muscle Contraction
    Striated Muscle Contraction0.87
    Muscle contraction0.65
    Striated Muscle Contraction0.87
    Smooth Muscle Contraction0.43
    2Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Dilated cardiomyopathy0.75
    3Thyroid cancer
    Thyroid cancer
    4Cardiac muscle contraction
    Cardiac muscle contraction
    5Pathways in cancer
    Pathways in cancer

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for TPM3
        Striated Muscle Contraction

    3        Reactome Pathways for TPM3
        Smooth Muscle Contraction
    Muscle contraction
    Striated Muscle Contraction


    5         Kegg Pathways  (Kegg details for TPM3):
        Cardiac muscle contraction
    Pathways in cancer
    Thyroid cancer
    Hypertrophic cardiomyopathy (HCM)
    Dilated cardiomyopathy


    TPM3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TPM3

    5/38 Interacting proteins for TPM3 (P067531, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KXD1Q9BQD32, 3MINT-67147 I2D: score=4 
    HSP90AB1P082382, 3MINT-72660 I2D: score=3 
    IKBKEQ141642, 3MINT-48121 I2D: score=3 
    SMAD3P840222, 3MINT-51244 I2D: score=3 
    CHUKO151112, 3MINT-48058 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006928cellular component movement TAS16130169
    GO:0006936muscle contraction TAS--
    GO:0006937regulation of muscle contraction NAS--
    GO:0007155cell adhesion ----
    GO:0007165signal transduction ----

    TPM3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TPM3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TPM3

    1 HMDB Compound for TPM3    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    2 Novoseek inferred chemical compound relationships for TPM3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 30 2 7956350 (1), 7565764 (1)
    calcium 0 1 10540182 (1)

    Search CenterWatch for drugs/clinical trials and news about TPM3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TPM3 gene (9 alternative transcripts): 
    NM_001043351.1  NM_001043352.1  NM_001043353.1  NM_001278188.1  NM_001278189.1  NM_001278190.1  NM_001278191.1  NM_152263.3  
    NM_153649.3  

    Unigene Clusters for TPM3:

    Tropomyosin 3
    Hs.644306  [show with all ESTs], Hs.654421  [show with all ESTs]
    Unigene Representative Sequences: NM_152263, BQ057452
    18/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000368533(uc001fdx.1 uc010pei.1 uc001fdy.1 uc001fdz.1 uc001fea.1 uc001feb.1 uc010pej.1)
    ENST00000368545 ENST00000469717 ENST00000330188 ENST00000341485 ENST00000341372
    ENST00000328159(uc001fed.1) ENST00000509409 ENST00000271850 ENST00000312970
    ENST00000513769 ENST00000302206 ENST00000368531 ENST00000323144 ENST00000368530(uc001fec.1)
    ENST00000504663 ENST00000509601 ENST00000505010
    miRNA
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    8/120 QIAGEN miScript miRNA Assays for microRNAs that regulate TPM3 (see all 120):
    hsa-miR-194* hsa-miR-3130-5p hsa-miR-3194-5p hsa-miR-607 hsa-miR-640 hsa-miR-3938 hsa-miR-1321 hsa-miR-4272
    SwitchGear 3'UTR luciferase reporter plasmidTPM3 3' UTR sequence
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    Additional mRNA sequence: 

    AF474157.1 AK315504.1 M12128.1 

    24/78 DOTS entries (see all 78):

    DT.100687282  DT.91779772  DT.91779823  DT.100687277  DT.100687269  DT.91779856  DT.456355  DT.95377919 
    DT.121385379  DT.100052170  DT.121385298  DT.92340111  DT.95281999  DT.100687261  DT.100687262  DT.91883204 
    DT.121385407  DT.121385402  DT.121385366  DT.121385396  DT.91779811  DT.121385409  DT.120727920  DT.75111748 

    24/1845 AceView cDNA sequences (see all 1845):

    F18797 BC062740 AW474755 BM460106 BP368329 BM930183 BU182297 BU178578 
    BE797548 BU542633 BE256707 BE743304 F33357 AW511609 BQ934209 BQ675774 
    CB117373 N35237 F30134 AA306670 BU956481 BE783209 BM784421 T39831 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for TPM3 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for TPM3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TPM3 expression in normal human tissues (normalized intensities)      TPM3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAAACTCAT
    TPM3 Expression
    About this image


    TPM3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 17 entries
             Multinuclear Myocytes Lumbar Back Muscles
             skeletal muscle ; myocytes   
             deltoid muscle   
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Multinuclear Myocytes Forelimb Dorsal Muscles
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             platelets   
     
     Smooth Muscle (Muscoskeletal System)
             smooth muscle ; smooth muscle cells   
     
     Eye (Sensory Organs)
             Mature Horizontal Cells Inner Nuclear Layer

    See TPM3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TPM3

    SOURCE GeneReport for Unigene clusters: Hs.644306 Hs.654421
        SABiosciences Custom PCR Arrays for TPM3
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPM3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for TPM3 gene from 8/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tpm31 , 5 tropomyosin 3, gamma1, 5 84.74(n)1
    86.97(a)1
      3 (39.20 cM)5
    590691  NM_022314.31  NP_071709.21 
     900726495 
    chicken
    (Gallus gallus)
    Aves TPM36
    tropomyosin 3
    84(a)
    1 ↔ 1
    25(1329825-1341487)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    97(a)
    88(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    GL343805.1(24045-56796)
    AAWZ02036664(3219-10668)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.347262 Xenopus laevis, Similar to tropomyosin 3, gamma, clone more 78.37(n)    BC043980.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC044420.12   -- 77.35(n)    BC044420.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Tm26
    Tm16
    Tropomyosin 1
    46(a)
    22(a)
    many ↔ many
    many ↔ many
    3R(11135915-11140919)
    3R(11107093-11134501)
    worm
    (Caenorhabditis elegans)
    Secernentea lev-111 Protein LEV-11 59.69(n)
    59.57(a)
      173319  NM_001026524.4  NP_001021695.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TPM26
    TPM16
    Minor isoform of tropomyosin, binds to and stabili...
    Major isoform of tropomyosin; binds to and stabili...
    24(a)
    20(a)
    many ↔ many
    many ↔ many
    IX(89230-89715)
    XIV(478566-479165)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TPM3 gene
    TPM12  TPM42  TPM22  
    7 SIMAP similar genes for TPM3 using alignment to 11 protein entries:     TPM3_HUMAN (see all proteins):
    TPM4    OK/SW-cl.5    TPM3-ROS1    TPM1    TPM2    TPM2b
    DKFZp686J1372

    TPM3 for paralogs           About GeneDecksing


    5/9 Pseudogenes.org Pseudogenes for TPM3 (see all 9)
    PGOHUM00000258959 PGOHUM00000234701 PGOHUM00000234771 PGOHUM00000234773 PGOHUM00000247515


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/786 SNPs in TPM3 are shown (see all 786)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0134604
    Nemaline myopathy 1 (NEM1)4--see VAR_0134602 M R mis40--------
    rs1994747201,2
    Cpathogenic1160642375(-) CAGATA/CATTAT 13 * S int10--------
    rs1136052631,2
    Cpathogenic1160642378(+) ATTATA/C/G/
            
    TGTAT
    11 -- int1 spa11CSA 1
    rs1994747181,2
    Cpathogenic1160644879(-) CTGAGA/GGATCG 21 R G mis10--------
    rs1994747171,2
    Cpathogenic1160644891(-) GTGCTA/GAGTTT 21 K E mis10--------
    rs1994747151,2
    Cpathogenic1160647406(-) CTCGTA/GAGTTG 21 K E mis10--------
    rs1219648521,2
    Cpathogenic1160647408(-) GGCTCA/GTAAGT 21 H R mis10--------
    rs1219648541,2
    Cpathogenic1160647409(-) TGGCTC/G/TGTAAG 32 R G C mis10--------
    rs1219648531,2
    Cpathogenic1160650721(-) AAGAGA/CTGGAC 19 M L mis1 int1 ut510--------
    rs1994747131,2
    Cpathogenic1160650747(-) GAACCC/GTAGGA 19 P R mis1 int1 ut510--------

    HapMap Linkage Disequilibrium report for TPM3 (154127780 - 154167124 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for TPM3:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2663393CNV Deletion23128226
    esv29020CNV Loss19812545
    nsv872451CNV Gain21882294
    nsv520398CNV Gain+Loss19592680


    Human Gene Mutation Database (HGMD): TPM3

    Locus Specific Mutation Databases (LSDB): TPM3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TPM3
    DNA2.0 Custom Variant and Variant Library Synthesis for TPM3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 191030   
    OMIM disorders: 609284  
    UniProtKB/Swiss-Prot: TPM3_HUMAN, P06753
  • Nemaline myopathy 1 (NEM1) [MIM:609284]: A form of nemaline myopathy with autosomal dominant or recessive
    inheritance. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and
    onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Autosomal
    dominant nemaline myopathy type 1 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. Note=The disease is caused
    by mutations affecting the gene represented in this entry
  • Thyroid papillary carcinoma (TPC) [MIM:188550]: A common tumor of the thyroid that typically arises as an
    irregular, solid or cystic mass from otherwise normal thyroid tissue. Papillary carcinomas are malignant neoplasm
    characterized by the formation of numerous, irregular, finger-like projections of fibrous stroma that is covered
    with a surface layer of neoplastic epithelial cells. Note=The disease is caused by mutations affecting the gene
    represented in this entry. A chromosomal aberration involving TPM3 is found in thyroid papillary carcinomas. 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

  • 20/31 diseases for TPM3 (see all 31):    About MalaCards
    cap myopathy    nemaline myopathy 1    tpm3-related nemaline myopathy    tpm3-related congenital fiber-type disproportion
    nemaline myopathy 1, autosomal dominant    congenital fibrosarcoma    congenital fiber-type disproportion    congenital myotonic dystrophy
    reticulosarcoma    nemaline myopathy    distal arthrogryposis    myopathy
    hypertrophic cardiomyopathy    myotonic dystrophy    familial hypertrophic cardiomyopathy    papillary carcinoma
    fibrosarcoma    anaplastic large cell lymphoma    papillary thyroid carcinoma    hypotonia

    5 diseases from the University of Copenhagen DISEASES database for TPM3:
    Nemaline myopathy     Anaplastic large cell lymphoma     Hypertrophic cardiomyopathy     Distal arthrogryposis
    Reticulosarcoma

    TPM3 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for TPM3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nemaline myopathy autosomal dominant 95.9 4 7956350 (1), 12163017 (1), 7704029 (1)
    myopathies nemaline 94.2 12 19953533 (3), 18716557 (2), 18382475 (1), 19648653 (1) (see all 7)
    thyroid papillary carcinoma 63.3 3 10216106 (1), 10646882 (1), 7590742 (1)
    tumors 0 2 10074915 (1), 7590742 (1)

    GeneTests: TPM3
    GeneReviews: TPM3
    Genetic Association Database (GAD): TPM3
    Human Genome Epidemiology (HuGE) Navigator: TPM3 (3 documents)

    Export disorders for TPM3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TPM3 gene, integrated from 9 sources (see all 134):
    (articles sorted by number of sources associating them with TPM3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. (PubMed id 7704029)1, 2, 9 Laing N.G.... Haan E. (1995)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. (PubMed id 12196661)1, 4 Wattanasirichaigoon D....Beggs A.H. (2002)
    5. A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production. (PubMed id 10587521)1, 2 Michele D.E.... Metzger J.M. (1999)
    6. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. (PubMed id 7663526)1, 2 Laing N.G....Love D.R. (1995)
    7. Erythrocyte tropomodulin binds to the N-terminus of hTM5, a tropomyosin isoform encoded by the gamma-tropomyosin gene. (PubMed id 8002995)1, 2 Sung L.A. and Lin J.J.-C. (1994)
    8. Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes. (PubMed id 1286667)1, 2 Rasmussen H.H....Vandekerckhove J. (1992)
    9. Localization of the TRK proto-oncogene to human chromosome bands 1q23-1q24. (PubMed id 1829807)1, 3 Morris C.M....Groffen J. (1991)
    10. Organization of the hTMnm gene. Implications for the evolution of muscle and non-muscle tropomyosins. (PubMed id 3418707)1, 2 Clayton L.... MacLeod A.R. (1988)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7170 HGNC: 12012 AceView: TPM3 Ensembl:ENSG00000143549 euGenes: HUgn7170
    ECgene: TPM3 Kegg: 7170 H-InvDB: TPM3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TPM3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TPM3 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TPM3

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TPM3 gene:
    Search GeneIP for patents involving TPM3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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