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TPM3 Gene

protein-coding   GIFtS: 69
GCID: GC01M154127

Tropomyosin 3


(Previous symbol: NEM1)
  See TPM3-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)
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Aliases
Tropomyosin 31 2     Alpha-Tropomyosin, Slow Skeletal2
NEM11 2 5     Cytoskeletal Tropomyosin TM302
CAPM12 5     Epididymis Luminal Protein 1892
CFTD2 5     Epididymis Secretory Sperm Binding Protein Li 82p2
HEL-1892     Heat-Stable Cytoskeletal Protein 30 KDa2
HEL-S-82p2     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, and nemaline myopathy 1. GO annotations related to this gene include actin binding. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_004487.20  NC_018912.2  
Regulatory elements:
   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 Chromatin IP Primers for TPM3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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: 

  • Ubiquitination2 at Lys11, Lys13, Lys169, Lys228
  • Modification sites at PhosphoSitePlus

  • See TPM3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    TPM3 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for TPM3

     
    Search eBioscience for Proteins for TPM3 

    TPM3 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for TPM3

    TPM3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for TPM3
    Cloud-Clone Corp. CLIAs for TPM3
    Search eBioscience for ELISAs for TPM3 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with TPM3           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0003779actin binding IEA--
         
    Find genes that share ontologies with TPM3           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Tpm3):
     mortality/aging  muscle  nervous system  no phenotypic analysis 

    Find genes that share phenotypes with TPM3           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model 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-92a-3p (MIRT049433), hsa-mir-26b-5p (MIRT029782), hsa-mir-615-3p (MIRT040208), hsa-mir-16-5p (MIRT001403), hsa-mir-1 (MIRT001325), hsa-mir-145-5p (MIRT021512)

    Block miRNA regulation of human, mouse, rat TPM3 using miScript Target Protectors
    Selected qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat TPM3

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    GenScript: all cDNA clones in your preferred vector (see all 5): TPM3 (NM_001043351)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TPM3

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPM3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TPM3_HUMAN, P06753: Cytoplasm, cytoskeleton
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    extracellular2
    nucleus2
    plasma membrane2
    endoplasmic reticulum1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 14):    About this table

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

    Find genes that share ontologies with TPM3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for TPM3 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Striated Muscle Contraction
    Striated Muscle Contraction0.82
    Muscle contraction0.61
    Striated Muscle Contraction0.82
    Smooth Muscle Contraction0.47
    2Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Dilated cardiomyopathy0.75
    3Thyroid cancer
    Thyroid cancer
    4Pathways in cancer
    Pathways in cancer
    5Cardiac muscle contraction
    Cardiac muscle contraction


    Find genes that share SuperPaths with TPM3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for TPM3
        Striated Muscle Contraction

    2 Reactome Pathways for TPM3
        Smooth Muscle Contraction
    Striated Muscle Contraction


    Selected Kegg Pathways  (Kegg details for TPM3) (see all 6):
        Cardiac muscle contraction
    Adrenergic signaling in cardiomyocytes
    Pathways in cancer
    Thyroid cancer
    Hypertrophic cardiomyopathy (HCM)

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TPM3
    Interactions:

        GeneGlobe Interaction Network for TPM3

    Selected Interacting proteins for TPM3 (P067532, 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): Selected biological process terms (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 ----
    GO:0007155cell adhesion ----
    GO:0007165signal transduction ----

    Find genes that share ontologies with TPM3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with TPM3           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    Selected 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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    Selected qRT-PCR 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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    GenScript: all cDNA clones in your preferred vector (see all 5): TPM3 (NM_001043351)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TPM3
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      QuantiTect SYBR Green Assays in human, mouse, rat TPM3
      QuantiFast Probe-based Assays in human, mouse, rat TPM3

    Additional mRNA sequence: 

    AF474157.1 AK315504.1 M12128.1 

    Selected 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 

    Selected AceView cDNA sequences (see all 1845):

    BM912480 CB121270 CR597930 BM703826 BQ213914 AA906955 BM706372 BE741145 
    BQ955068 BU158231 CD673504 AL046107 BE882888 BM459563 BM452202 CA431797 
    BU192291 BQ876654 CA434528 BU146404 BM552407 BU541740 BE791924 CD367430 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TPM3 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 22) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 14 entries
             Multinuclear Myocytes Lumbar Back Muscles
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Multinuclear Myocytes Forelimb Dorsal Muscles
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Eye (Sensory Organs)
             Mature Horizontal Cells Inner Nuclear Layer
     
     Neurons
             Mature Horizontal Cells Inner Nuclear Layer
    TPM3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TPM3 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.644306 Hs.654421
        Custom PCR Arrays for TPM3
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat TPM3
    In Situ
    Assay Products:
     

     
    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for TPM3 gene from Selected species (see all 14)    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
    85(a)
    1 ↔ 1
    25(1329825-1341487)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    88(a)
    100(a)
    1 ↔ many
    1 ↔ many
    AAWZ02037793(3041-7823)
    GL344238.1(6227-9201)
    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-116
    Protein LEV-11, isoform e
    59(a)
    1 → many
    I(14620759-14631254) WBGene00002978


    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)
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    Paralogs for TPM3 gene
    TPM12  TPM42  TPM22  
    8 SIMAP similar genes for TPM3 using alignment to 11 protein entries:     TPM3_HUMAN (see all proteins):
    TPM4    OK/SW-cl.5    TPM3-ROS1    TPM2    TPM1    TPM2b
    DKFZp686J1372    HEL-S-82p

    Find genes that share paralogs with TPM3           About GenesLikeMe


    Selected 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TPM3 (see all 794)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0700694
    Nemaline myopathy 1 (NEM1)4--see VAR_0700692 R H mis40--------
    VAR_0700664
    Myopathy, congenital, with fiber-type disproportion (CFTD)4--see VAR_0700662 L M mis40--------
    VAR_0700714
    Myopathy, congenital, with fiber-type disproportion (CFTD)4--see VAR_0700712 R G mis40--------
    VAR_0700684
    Myopathy, congenital, with fiber-type disproportion (CFTD)4--see VAR_0700682 R G mis40--------
    VAR_0700674
    Myopathy, congenital, with fiber-type disproportion (CFTD)4--see VAR_0700672 R C mis40--------
    VAR_0700704
    Myopathy, congenital, with fiber-type disproportion (CFTD)4--see VAR_0700702 K E mis40--------
    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--------

    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

    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 191030   
    OMIM disorders: 609284  255310  
    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 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. 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
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry
  • 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. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 18 diseases for TPM3:    
    About MalaCards
    nemaline myopathy    nemaline myopathy 1    cap myopathy 1    nemaline myopathy 1, autosomal dominant or recessive
    cap myopathy    tpm3-related nemaline myopathy    tpm3-related congenital fiber-type disproportion    congenital fiber-type disproportion
    charcot-marie-tooth neuropathy x type 5    myopathy, congenital, with fiber-type disproportion 1    charcot-marie-tooth neuropathy x    reticulosarcoma
    congenital myotonic dystrophy    intermediate nemaline myopathy    phosphoribosylpyrophosphate synthetase superactivity    childhood-onset nemaline myopathy
    inflammatory myofibroblastic tumor    myopathy

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

    Find genes that share disorders with TPM3           About GenesLikeMe

    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)
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    PubMed articles for TPM3 gene, integrated from 10 sources (see all 136):
    (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. (Nat. Genet. 1995)
    2. TPM3 mutation in one of the original cases of cap disease. (PubMed id 19487656)1, 2 Ohlsson M....Oldfors A. (Neurology 2009)
    3. Mutations in TPM3 are a common cause of congenital fiber type disproportion. (PubMed id 18300303)1, 2 Clarke N.F....North K.N. (Ann. Neurol. 2008)
    4. A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study. (PubMed id 17376686)1, 2 PAcnisson-Besnier I....Laing N. (Neuromuscul. Disord. 2007)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. 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. (Genome Res. 2004)
    7. 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. (Neurology 2002)
    8. 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. (J. Clin. Invest. 1999)
    9. 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. (Nat. Genet. 1995)
    10. 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. (Biochem. Biophys. Res. Commun. 1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 7170 HGNC: 12012 AceView: TPM3 Ensembl:ENSG00000143549 euGenes: HUgn7170
    ECgene: TPM3 Kegg: 7170 H-InvDB: TPM3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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/books/NBK1116/?term=TPM3[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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