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TPM2 Gene

protein-coding   GIFtS: 71
GCID: GC09M035672

Tropomyosin 2 (Beta)

(Previous names: arthrogryposis multiplex congenital, distal, type 1)
(Previous symbol: AMCD1)
  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)
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Aliases
Tropomyosin 2 (Beta)1 2     Arthrogryposis Multiplex Congenital, Distal, Type 11
AMCD11 2 5     HEL-S-2732
TMSB2 3 5     Epididymis Secretory Protein Li 2732
Nemaline Myopathy Type 41 2     Tropomyosin Beta Chain2
DA12 5     Beta-tropomyosin3
DA2B2 5     Tropomyosin-23
NEM42 5     

External Ids:    HGNC: 120111   Entrez Gene: 71692   Ensembl: ENSG000001984677   OMIM: 1909905   UniProtKB: P079513   

Export aliases for TPM2 gene to outside databases

Previous GC identifers: GC09M035994 GC09M035851 GC09M035671


(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 TPM2 Gene:
This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in
slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin
proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced
transcript variants encoding different isoforms have been found for this gene.(provided by RefSeq, Mar 2009)

GeneCards Summary for TPM2 Gene:
TPM2 (tropomyosin 2 (beta)) is a protein-coding gene. Diseases associated with TPM2 include tpm2-related nemaline myopathy, and nemaline myopathy 4. GO annotations related to this gene include structural constituent of muscle and actin binding. An important paralog of this gene is TPM3.

UniProtKB/Swiss-Prot: TPM2_HUMAN, P07951
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. The non-muscle isoform may have a role in agonist-mediated receptor internalization
(By similarity)

Gene Wiki entry for TPM2 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:
NC_000009.12  NT_008413.19  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TPM2 gene promoter:
         E2F-3a   p300   E2F-2   E47   Max   E2F-1   E2F   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTPM2 promoter sequence
   Search Chromatin IP Primers for TPM2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TPM2


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

Entrez Gene cytogenetic band: 9p13   Ensembl cytogenetic band:  9p13.3   HGNC cytogenetic band: 9p13

TPM2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TPM2 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M035672:  view genomic region     (about GC identifiers)

Start:
35,681,989 bp from pter      End:
35,691,017 bp from pter
Size:
9,029 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, 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., 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: TPM2_HUMAN, P07951 (See protein sequence)
Recommended Name: Tropomyosin beta chain  
Size: 284 amino acids; 32851 Da
Subunit: Heterodimer of an alpha and a beta chain
Mass spectrometry: Mass=32850.73; Method=MALDI; Range=1-284 (P07951-1); Source=PubMed:11840567;
Mass spectrometry: Mass=32989.81; Method=MALDI; Range=1-284 (P07951-2); Source=PubMed:11840567;
Secondary accessions: A6NM85 P06468 Q13894 Q53FM4 Q5TCU4 Q5TCU7 Q9UH67
Alternative splicing: 3 isoforms:  P07951-1   P07951-2   P07951-3   

Explore the universe of human proteins at neXtProt for TPM2: NX_P07951

Explore proteomics data for TPM2 at MOPED

Post-translational modifications: 

  • Phosphorylated on Ser-61 by PIK3CG. Phosphorylation on Ser-61 is required for ADRB2 internalization (By
    similarity)1
  • Ubiquitination2 at Lys149, Lys168
  • Modification sites at PhosphoSitePlus

  • See TPM2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_003280.2  NP_998839.1  

    ENSEMBL proteins: 
     ENSP00000367550   ENSP00000367542   ENSP00000367541   ENSP00000354219   ENSP00000475952  
    Reactome Protein details: P07951

    TPM2 Human Recombinant Protein Products:

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    Abcam antibodies for TPM2 (P06753, P07951, P09493)
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    Cloud-Clone Corp. CLIAs for TPM2


    (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 P07951

    ProtoNet protein and cluster: P07951

    1 Blocks protein domain: IPB000533 Tropomyosin

    UniProtKB/Swiss-Prot: TPM2_HUMAN, P07951
    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


    TPM2 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TPM2_HUMAN, P07951
    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. The non-muscle isoform may have a role in agonist-mediated receptor internalization
    (By similarity)

         Genatlas biochemistry entry for TPM2:
    tropomyosin 2,beta,skeletal muscle

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IDA17194691
    GO:0005515protein binding ----
    GO:0008307structural constituent of muscle TAS7606936
         
    TPM2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for TPM2:
     Decreased focal adhesion (FA)   Increased G1 DNA content 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TPM2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TPM2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TPM2

    miRNA
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    miRTarBase miRNAs that target TPM2:
    hsa-mir-1 (MIRT001326)

    Block miRNA regulation of human, mouse, rat TPM2 using miScript Target Protectors
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    GenScript: all cDNA clones in your preferred vector (see all 2): TPM2 (NM_213674)
    Sino Biological Human cDNA Clone for TPM2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TPM2

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    (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
    TPM2_HUMAN, P07951: Cytoplasm, cytoskeleton
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus2
    extracellular1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005862muscle thin filament tropomyosin TAS7606936

    TPM2 for ontologies           About GeneDecksing


    (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 TPM2 About    
    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
    3Cardiac muscle contraction
    Cardiac muscle contraction
    4Adrenergic signaling in cardiomyocytes
    Adrenergic signaling in cardiomyocytes

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for TPM2
        Striated Muscle Contraction


    2 Reactome Pathways for TPM2
        Smooth Muscle Contraction
    Striated Muscle Contraction


    4 Kegg Pathways  (Kegg details for TPM2):
        Cardiac muscle contraction
    Adrenergic signaling in cardiomyocytes
    Hypertrophic cardiomyopathy (HCM)
    Dilated cardiomyopathy


    TPM2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TPM2
    Interactions:

        Search GeneGlobe Interaction Network for TPM2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TPM2 (P079512, 3 ENSP000003542194) via UniProtKB, MINT, STRING, and/or I2D (see all 118)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SKILP127572, 3MINT-61688 I2D: score=2 
    JUNP054123, ENSP000003602664I2D: score=4 STRING: ENSP00000360266
    ACTBP607093, ENSP000003499604I2D: score=2 STRING: ENSP00000349960
    S100A2P290343, ENSP000003576974I2D: score=2 STRING: ENSP00000357697
    S100A4P264473, ENSP000003462944I2D: score=2 STRING: ENSP00000346294
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006936muscle contraction TAS--
    GO:0030049muscle filament sliding TAS--
    GO:0043462regulation of ATPase activity IDA17194691

    TPM2 for ontologies           About GeneDecksing



    (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 TPM2

    1 HMDB Compound for TPM2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TPM2 gene (3 alternative transcripts): 
    NM_003289.3  NM_213674.1  NM_001145822.1  

    Unigene Cluster for TPM2:

    Tropomyosin 2 (beta)
    Hs.300772  [show with all ESTs]
    Unigene Representative Sequence: BM916445
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378300 ENST00000378292(uc003zxq.3 uc011lpa.2) ENST00000329305
    ENST00000360958(uc003zxs.3 uc010mkz.3) ENST00000607559 ENST00000471212
    ENST00000486018 ENST00000604975
    miRNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TPM2
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TPM2
      QuantiTect SYBR Green Assays in human, mouse, rat TPM2
      QuantiFast Probe-based Assays in human, mouse, rat TPM2

    Additional mRNA sequence: 

    AK130045.1 AK223258.1 BC011776.2 EU106177.1 M12125.1 M12126.1 M74817.1 M75165.1 
    X06825.1 Z36788.1 

    Selected DOTS entries (see all 36):

    DT.91779834  DT.100877303  DT.91779769  DT.100044995  DT.95173759  DT.95173756  DT.91779840  DT.87000366 
    DT.91779775  DT.95347737  DT.121199186  DT.97868139  DT.95287515  DT.121199286  DT.121199141  DT.100877301 
    DT.121199142  DT.121199184  DT.121199199  DT.95173760  DT.121199202  DT.95173762  DT.100044993  DT.100877299 

    Selected AceView cDNA sequences (see all 1108):

    F24258 AA327369 BF446012 AA453298 BM919244 F24748 F29551 AI420045 
    BP371972 BP375131 BQ432243 BF869191 BQ330748 F31035 T28704 F31680 
    BM803920 F25275 CN484784 BE858015 CA421938 CN485140 F24509 AI420393 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TPM2 (see all 16)    About this scheme

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

    ExUns: 11a · 11b ^ 12 ^ 13 ^ 14a · 14b
    SP1:  -     -     -     -               
    SP2:                                    
    SP3:  -     -                           
    SP4:  -     -     -     -               
    SP5:  -     -     -     -               


    ECgene alternative splicing isoforms for TPM2

    (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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    TPM2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACCAGGCCC
    TPM2 Expression
    About this image


    TPM2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 14 entries
             Multinuclear Myocytes Lumbar Back Muscles
     
     Kidney (Urinary System)    fully expand to see all 5 entries
             Metanephric Mesenchyme Cells Metanephric Mesenchyme
             Glomerulus
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Multinuclear Myocytes Forelimb Dorsal Muscles
     
     Lower Urinary Tract (Urinary System)
             Ureter
     
     Lung (Respiratory System)
             Basal Cells Trachea
    TPM2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TPM2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.300772

    UniProtKB/Swiss-Prot: TPM2_HUMAN, P07951
    Tissue specificity: Present in primary breast cancer tissue, absent from normal breast tissue

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPM2

    (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 TPM2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tpm25 tropomyosin 2, beta   --   4 (23.05 cM) 43514711 
    chicken
    (Gallus gallus)
    Aves BRT-16
    Gallus gallus tropomyosin 2 (beta) (TPM2), mRNA.
    86(a)
    1 ↔ 1
    Z(9066147-9077155)
    lizard
    (Anolis carolinensis)
    Reptilia TPM26
    tropomyosin 2 (beta)
    81(a)
    1 ↔ 1
    GL343847.1(38-11860)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3986742 hypothetical protein LOC398674 79.25(n)    BC041219.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tpm26
    tropomyosin 2 (beta)
    80(a)
    1 ↔ 1
    10(8303856-8360758) ENSDARG00000068385
    fruit fly
    (Drosophila melanogaster)
    Insecta Tm13 pole plasm oskar mRNA localization
    actin binding
    51(a)
    (best of 2)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea lev-116
    Protein LEV-11, isoform e
    53(a)
    1 → many
    I(14620759-14631254) WBGene00002978


    ENSEMBL Gene Tree for TPM2 (if available)
    TreeFam Gene Tree for TPM2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TPM2 gene
    TPM32  TPM12  TPM42  
    8 SIMAP similar genes for TPM2 using alignment to 5 protein entries:     TPM2_HUMAN (see all proteins):
    TPM2b    TPM4    TPM1    TPM3-ROS1    TPM3    HEL-S-82p
    OK/SW-cl.5    DKFZp686J1372

    TPM2 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for TPM2
    PGOHUM00000238610 PGOHUM00000250494


    (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 TPM2 (see all 303)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0160864
    Arthrogryposis, distal, 1A (DA1A)4--see VAR_0160862 R G mis40--------
    VAR_0134694
    Nemaline myopathy 4 (NEM4)4--see VAR_0134692 Q P mis40--------
    VAR_0134684
    Nemaline myopathy 4 (NEM4)4--see VAR_0134682 E A mis40--------
    rs1378533071,2
    Cpathogenic135652710(-) ACCAAC/GAACTT 3 N K mis1 int10--------
    rs1048941281,2
    Cpathogenic135653432(-) GATGCA/CGCTGA 4 Q P mis10--------
    rs1378533051,2
    Cpathogenic135653475(-) AAAACC/TGGGCC 4 R W mis10--------
    rs1048941291,2
    Cpathogenic135653618(-) AGGCCA/GAGAAG 4 K E mis10--------
    rs1048941271,2
    Cpathogenic135653696(-) ACCGCC/GGCATT 4 R G mis10--------
    rs1378533061,2
    Cpathogenic135657211(-) TGGAGA/GAGGAG 4 K E mis10--------
    rs562499431,2
    C,Funtested135651096(+) GCTGGC/TGTGGG 2 -- ut31 int11Minor allele frequency- T:0.12NA 120

    HapMap Linkage Disequilibrium report for TPM2 (35681989 - 35691017 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for TPM2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv6528CNV Insertion18451855
    nsv466385CNV Loss19166990
    dgv8168n71CNV Gain21882294

    Human Gene Mutation Database (HGMD): TPM2
    Locus Specific Mutation Databases (LSDB): TPM2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TPM2
    DNA2.0 Custom Variant and Variant Library Synthesis for TPM2

    (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: 190990   
    OMIM disorders: 108120  601680  609285  
    UniProtKB/Swiss-Prot: TPM2_HUMAN, P07951
  • Nemaline myopathy 4 (NEM4) [MIM:609285]: A form of nemaline myopathy. 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. Nemaline myopathy type 4 presents from infancy to
    childhood with hypotonia and moderate-to-severe proximal weakness with minimal or no progression. Major motor
    milestones are delayed but independent ambulation is usually achieved, although a wheelchair may be needed in
    later life. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Arthrogryposis, distal, 1A (DA1A) [MIM:108120]: A form of distal arthrogryposis, a disease characterized
    by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a
    primary neurological or muscle disease. Distal arthrogryposis type 1 is characterized largely by camptodactyly
    and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are
    less frequently affected. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for TPM2 (see all 32):    
    About MalaCards
    tpm2-related nemaline myopathy    nemaline myopathy 4    nemaline myopathy 4, autosomal dominant    arthrogryposis multiplex congenita distal
    arthrogryposis multiplex congenita distal type 1    distal arthrogryposis type 5    tpm2-related arthrogryposis multiplex congenita, distal, type 2b    cap myopathy 2
    tpm2-related congenital fiber-type disproportion    distal arthrogryposis    typical nemaline myopathy    cap myopathy
    nemaline myopathy 1, autosomal dominant or recessive    trismus-pseudocamptodactyly syndrome    childhood-onset nemaline myopathy    fissured tongue
    congenital fiber-type disproportion    myopathy    nemaline myopathy    clubfoot

    3 diseases from the University of Copenhagen DISEASES database for TPM2:
    Distal arthrogryposis     Nemaline myopathy     Clubfoot

    TPM2 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for TPM2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myopathies nemaline 94.4 7 19155175 (1), 12805120 (1), 17846275 (1), 19047562 (1)
    arthrogryposis 79.7 3 19142688 (3), 19047562 (1)
    myopathy 71.1 4 19155175 (1)

    GeneTests: TPM2
    GeneReviews: TPM2
    Genetic Association Database (GAD): TPM2
    Human Genome Epidemiology (HuGE) Navigator: TPM2 (4 documents)

    Export disorders for TPM2 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 TPM2 gene, integrated from 10 sources (see all 83):
    (articles sorted by number of sources associating them with TPM2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot. (PubMed id 19142688)1, 4, 9 Gurnett C.A....Dobbs M.B. (Clin. Orthop. Relat. Res. 2009)
    2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    3. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    4. 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)
    5. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. (PubMed id 12592607)1, 2 Sung S.S.... Bamshad M. (Am. J. Hum. Genet. 2003)
    6. Cluster analysis of an extensive human breast cancer cell line protein expression map database. (PubMed id 11840567)1, 2 Harris R.A....Zvelebil M.J. (Proteomics 2002)
    7. Mutations in the beta-tropomyosin (TPM2) gene -- a rare cause of nemaline myopathy. (PubMed id 11738357)1, 2 Donner K.... Wallgren-Pettersson C. (Neuromuscul. Disord. 2002)
    8. Assignment of the human beta tropomyosin gene (TPM2) to band 9p13 by fluorescence in situ hybridisation. (PubMed id 7606936)1, 3 Hunt C.C....Baker E. (Cytogenet. Cell Genet. 1995)
    9. A cDNA encoding a muscle-type tropomyosin cloned from a human epithelial cell line: identity with human fibroblast tropomyosin TM1. (PubMed id 2059197)1, 2 Prasad G.L.... Cooper H.L. (Biochem. Biophys. Res. Commun. 1991)
    10. A nonmuscle tropomyosin is encoded by the smooth/skeletal beta- tropomyosin gene and its RNA is transcribed from an internal promoter. (PubMed id 2303454)1, 2 Libri D.... Fiszman M.Y. (J. Biol. Chem. 1990)

    (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: 7169 HGNC: 12011 AceView: TPM2 Ensembl:ENSG00000198467 euGenes: HUgn7169
    ECgene: TPM2 Kegg: 7169 H-InvDB: TPM2

    (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 TPM2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TPM2[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 TPM2 gene:
    Search GeneIP for patents involving TPM2

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



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