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TNNC1 Gene

protein-coding   GIFtS: 68
GCID: GC03M052485

Troponin C Type 1 (Slow)

(Previous names: troponin C, slow)
(Previous symbol: TNNC)
  See TNNC1-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
Troponin C Type 1 (Slow)1 2     TNC2
TNNC1 2 3     Cardiac Troponin C2
TN-C2 3     Slow Twitch Skeletal/Cardiac Muscle Troponin C2
CMD1Z2 5     Troponin C, Slow Skeletal And Cardiac Muscles2
CMH132 5     Troponin C1, Slow2
Troponin C, Slow1     

External Ids:    HGNC: 119431   Entrez Gene: 71342   Ensembl: ENSG000001148547   OMIM: 1910405   UniProtKB: P633163   

Export aliases for TNNC1 gene to outside databases

Previous GC identifers: GC03M051577 GC03M051737 GC03M052341 GC03M052443 GC03M052460


(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 TNNC1 Gene:
Troponin is a central regulatory protein of striated muscle contraction, and together with tropomyosin, is located
on the actin filament. Troponin consists of 3 subunits: TnI, which is the inhibitor of actomyosin ATPase; TnT,
which contains the binding site for tropomyosin; and TnC, the protein encoded by this gene. The binding of
calcium to TnC abolishes the inhibitory action of TnI, thus allowing the interaction of actin with myosin, the
hydrolysis of ATP, and the generation of tension. Mutations in this gene are associated with cardiomyopathy
dilated type 1Z. (provided by RefSeq, Oct 2008)

GeneCards Summary for TNNC1 Gene:
TNNC1 (troponin C type 1 (slow)) is a protein-coding gene. Diseases associated with TNNC1 include cardiomyopathy, dilated, 1z, and tnnc1-related dilated cardiomyopathy. GO annotations related to this gene include actin filament binding and calcium ion binding. An important paralog of this gene is CALML3.

UniProtKB/Swiss-Prot: TNNC1_HUMAN, P63316
Function: Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three
components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for
tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments

Gene Wiki entry for TNNC1 (Troponin C type 1) 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_000003.11  NC_018914.2  NT_022517.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the TNNC1 gene promoter:
         Pax-5   Sp1   RREB-1   MyoD   Pax-4a   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTNNC1 promoter sequence
   Search Chromatin IP Primers for TNNC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TNNC1


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

Entrez Gene cytogenetic band: 3p21.1   Ensembl cytogenetic band:  3p21.1   HGNC cytogenetic band: 3p21.1

TNNC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TNNC1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M052485:  view genomic region     (about GC identifiers)

Start:
52,485,107 bp from pter      End:
52,488,086 bp from pter
Size:
2,980 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: TNNC1_HUMAN, P63316 (See protein sequence)
Recommended Name: Troponin C, slow skeletal and cardiac muscles  
Size: 161 amino acids; 18403 Da
Miscellaneous: Cardiac muscle Tn-C can bind 3 calcium ions per molecule. Domain I does not bind calcium
Selected PDB 3D structures from and Proteopedia for TNNC1 (see all 27):
1AP4 (3D)        1IH0 (3D)        1J1D (3D)        1J1E (3D)        1LXF (3D)        1MXL (3D)    
Secondary accessions: O14800 P02590 P04463

Explore the universe of human proteins at neXtProt for TNNC1: NX_P63316

Explore proteomics data for TNNC1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TNNC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003271.1  
    ENSEMBL proteins: 
     ENSP00000232975   ENSP00000420596  
    Reactome Protein details: P63316

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing

    4 InterPro protein domains:
     IPR018247 EF_Hand_1_Ca_BS
     IPR001125 Recoverin_like
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom

    Graphical View of Domain Structure for InterPro Entry P63316

    ProtoNet protein and cluster: P63316

    UniProtKB/Swiss-Prot: TNNC1_HUMAN, P63316
    Similarity: Belongs to the troponin C family
    Similarity: Contains 4 EF-hand domains


    Find genes that share domains with TNNC1           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: TNNC1_HUMAN, P63316
    Function: Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three
    components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for
    tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments

         Genatlas biochemistry entry for TNNC1:
    troponin C1,calcium binding subunit,component of the troponin complex forming the calcium-sensitive molecular
    switch that regulates striated muscle contraction in response to modifications in intracellular
    concentration,cardiac and slow twitch skeletal muscle

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IDA12840750
    GO:0005515protein binding IPI10806205
    GO:0031013troponin I binding IPI11735257
    GO:0031014troponin T binding IPI15542288
    GO:0042803protein homodimerization activity IDA18092822
         
    Find genes that share ontologies with TNNC1           About GenesLikeMe


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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 COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus2
    golgi apparatus1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005739mitochondrion IDA--
    GO:0005829cytosol TAS--
    GO:0005861troponin complex IDA10850966

    Find genes that share ontologies with TNNC1           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 TNNC1 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
    2Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Dilated cardiomyopathy0.75
    3Ca-dependent events
    Development Beta adrenergic receptors signaling via cAMP0.32
    4Cardiac muscle contraction
    Cardiac muscle contraction
    5Calcium signaling pathway
    Calcium signaling pathway


    Find genes that share SuperPaths with TNNC1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TNNC1 (see all 13)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    1 GeneGo (Thomson Reuters) Pathway for TNNC1
        Development Beta-adrenergic receptors signaling via cAMP

    1 BioSystems Pathway for TNNC1
        Striated Muscle Contraction


    1 Reactome Pathway for TNNC1
        Striated Muscle Contraction


    5 Kegg Pathways  (Kegg details for TNNC1):
        Calcium signaling pathway
    Cardiac muscle contraction
    Adrenergic signaling in cardiomyocytes
    Hypertrophic cardiomyopathy (HCM)
    Dilated cardiomyopathy

        Pathway & Disease-focused RT2 Profiler PCR Array including TNNC1: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TNNC1

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

    Selected Interacting proteins for TNNC1 (P633163 ENSP000002329754) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TNNT1P138053, ENSP000002919014I2D: score=2 STRING: ENSP00000291901
    PPP1CAP621363, ENSP000003260314I2D: score=1 STRING: ENSP00000326031
    TRIM63Q969Q13, ENSP000003633904I2D: score=1 STRING: ENSP00000363390
    TNNI3P194293, ENSP000003418384I2D: score=3 STRING: ENSP00000341838
    TNNI1P192373, ENSP000003370224I2D: score=2 STRING: ENSP00000337022
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002086diaphragm contraction IEA--
    GO:0006937regulation of muscle contraction TAS2250022
    GO:0010038response to metal ion IEA--
    GO:0030049muscle filament sliding TAS--
    GO:0032972regulation of muscle filament sliding speed ISS--

    Find genes that share ontologies with TNNC1           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
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    Browse Tocris compounds for TNNC1

    1 HMDB Compound for TNNC1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    8 DrugBank Compounds for TNNC1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Levosimendan-- 141505-33-1targetpotentiator10446160 12967628 10731446 11113122 12975736 11752352
    Bepridil-- 64706-54-3targetother2351672 12060657 9525919 11591369
    Calcium-- --targetagonist20459070 20371872 20599552 20566645
    TrifluoperazineTrifluoperazin (see all 13)117-89-5target--9525919 10592235
    5-[1-(3,4-Dimethoxy-Benzoyl)-1,2,3,4-Tetrahydro-Quinolin-6-Yl]-6-Methyl-3,6-Dihydro-[1,3,4]Thiadiazin-2-One-- --target--10592235
    Dihydroxyaluminium-- 13682-92-3targetstimulator11752352
    FelodipineDl-Felodipine (see all 4)72509-76-3targetother3178884
    N-(6-Aminohexyl)-5-Chloro-1-Naphthalenesulfonamide-- --target--10592235

    2 Novoseek inferred chemical compound relationships for TNNC1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    actomyosin 67 2 9724539 (1), 7601340 (1)
    calcium 25.7 22 9922172 (5), 9724539 (3), 10098965 (3), 8947417 (1) (see all 6)



    Find genes that share compounds with TNNC1           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 TNNC1 gene: 
    NM_003280.2  

    Unigene Cluster for TNNC1:

    Troponin C type 1 (slow)
    Hs.118845  [show with all ESTs]
    Unigene Representative Sequence: CF553054
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000232975(uc003deb.3) ENST00000496590 ENST00000461086
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    Additional mRNA sequence: 

    AF020769.1 AK313743.1 BC030244.1 CR541865.1 CR541885.1 X07897.1 

    10 DOTS entries:

    DT.455371  DT.91729929  DT.102836124  DT.102836125  DT.120879711  DT.97826743  DT.100747379  DT.102827291 
    DT.95173928  DT.95173929 

    Selected AceView cDNA sequences (see all 298):

    F37946 F15907 F31728 AJ572069 F29134 F26586 AJ709155 F30991 
    AA631036 CR541865 F28244 F30373 F22247 C05467 C05459 AJ711191 
    CR541885 R30754 F30070 X07897 F25256 F31910 F29416 H71009 

    GeneLoc Exon Structure


    (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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    TNNC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCTCAACCC
    TNNC1 Expression
    About this image


    TNNC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) 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
     
     Heart (Cardiovascular System)    fully expand to see all 5 entries
             Cardiac Crescent Cells Cardiac Crescent
             Heart Tube
             Cardiomyocyte-like progenitor cells
     
     Eye (Sensory Organs)
             Type1 Off Cone Bipolar Cells Inner Nuclear Layer
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    TNNC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TNNC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.118845
        Pathway & Disease-focused RT2 Profiler PCR Array including TNNC1: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

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    In Situ
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    (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 and fungi.

    Orthologs for TNNC1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tnnc11 , 5 troponin C, cardiac/slow skeletal1, 5 91.1(n)1
    99.38(a)1
      14 (19.09 cM)5
    219241  NM_009393.21  NP_033419.11 
     312083125 
    chicken
    (Gallus gallus)
    Aves TNNC11 troponin C type 1 (slow) 87.37(n)
    98.76(a)
      396032  NM_205133.1  NP_990464.1 
    lizard
    (Anolis carolinensis)
    Reptilia TNNC16
    troponin C type 1 (slow)
    98(a)
    1 ↔ 1
    2(154547556-154558352)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.22282 Xenopus laevis mRNA for cardiac troponin C, complete more 82.22(n)    AB003080.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tnnc12 troponin C, slow 81.56(n)   353247  AF434188.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG319606
    CG111656
    (see all 3)
    --
    39(a)
    34(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    2L(3784947-3785622)
    2R(3837344-3837970)
    worm
    (Caenorhabditis elegans)
    Secernentea cal-26
    cal-16
    (see all 4)
    Protein CAL-1, isoform b
    (see all 4)
    38(a)
    37(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    II(8960712-8961570) WBGene00000286
    V(12514876-12517205) WBGene00000285
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CMD16
    Calmodulin; Ca++ binding protein that regulates Ca...
    39(a)
    1 → many
    II(457919-458362) YBR109C


    ENSEMBL Gene Tree for TNNC1 (if available)
    TreeFam Gene Tree for TNNC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TNNC1 gene
    CALML32  CABP52  CABP12  CALM32  CABP42  CABP22  CALM12  CALML62  
    TNNC22  CALML52  CALML42  CALM22  
    Selected SIMAP similar genes for TNNC1 using alignment to 3 protein entries:     TNNC1_HUMAN (see all proteins) (see all similar genes):
    TNNC2    CALM2    CALML3    CALM1    OCM    CALM3
    CETN1    OCM2    CETN2    CAPSL    CALML6    CALML5
    MYL1    CABP2    NCALD    CABP1    CABP5    CALML4

    Find genes that share paralogs with TNNC1           About GenesLikeMe



    (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 TNNC1 (see all 86)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0630704
    Cardiomyopathy, familial hypertrophic 13 (CMH13)4--see VAR_0630702 A V mis40--------
    VAR_0630724
    Cardiomyopathy, familial hypertrophic 13 (CMH13)4--see VAR_0630722 E D mis40--------
    VAR_0197764
    Cardiomyopathy, familial hypertrophic 13 (CMH13)4--see VAR_0197762 L Q mis40--------
    VAR_0439884
    Cardiomyopathy, dilated 1Z (CMD1Z)4--see VAR_0439882 G R mis40--------
    VAR_0630734
    Cardiomyopathy, familial hypertrophic 13 (CMH13)4--see VAR_0630732 D E mis40--------
    VAR_0630714
    Cardiomyopathy, familial hypertrophic 13 (CMH13)4--see VAR_0630712 C Y mis40--------
    rs1048938231,2
    Cpathogenic152417611(-) GAAGGA/GTGTGG 2 D G mis10--------
    rs1909939601,2
    --52484779(+) ACCACC/TCTCTC 1 -- ds50010--------
    rs124971581,2
    C,F,H--52484935(+) CAGGGC/AAGGCC 1 -- ds50017Minor allele frequency- A:0.00NS EA NA 426
    rs1436946341,2
    --52484944(+) CCACAC/TGGCAG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for TNNC1 (52485107 - 52488086 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for TNNC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv5137n71CNV Loss21882294
    nsv834697CNV Loss17160897
    nsv876789CNV Loss21882294
    nsv876794CNV Loss21882294

    Human Gene Mutation Database (HGMD): TNNC1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TNNC1
    DNA2.0 Custom Variant and Variant Library Synthesis for TNNC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 191040   
    OMIM disorders: 611879  613243  
    UniProtKB/Swiss-Prot: TNNC1_HUMAN, P63316
  • Cardiomyopathy, dilated 1Z (CMD1Z) [MIM:611879]: A disorder characterized by ventricular dilation and
    impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of
    premature death. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Cardiomyopathy, familial hypertrophic 13 (CMH13) [MIM:613243]: A hereditary heart disorder characterized
    by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The
    symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by
    exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high
    risk of cardiac failure and sudden cardiac death. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 9 diseases for TNNC1:    
    About MalaCards
    cardiomyopathy, dilated, 1z    tnnc1-related dilated cardiomyopathy    tnnc1-related familial hypertrophic cardiomyopathy    cardiomyopathy, familial hypertrophic, 13
    restrictive cardiomyopathy    familial dilated cardiomyopathy    familial hypertrophic cardiomyopathy    hypertrophic cardiomyopathy
    cardiomyopathy, dilated, 1w

    2 diseases from the University of Copenhagen DISEASES database for TNNC1:
    Familial hypertrophic cardiomyopathy     Short bowel syndrome

    Find genes that share disorders with TNNC1           About GenesLikeMe

    GeneTests: TNNC1
    GeneReviews: TNNC1
    Genetic Association Database (GAD): TNNC1
    Human Genome Epidemiology (HuGE) Navigator: TNNC1 (24 documents)

    Export disorders for TNNC1 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 TNNC1 gene, integrated from 10 sources (see all 109):
    (articles sorted by number of sources associating them with TNNC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A dilated cardiomyopathy troponin C mutation lowers contractile force by reducing strong myosin-actin binding. (PubMed id 20371872)1, 7 Dweck D....Potter J.D. (J. Biol. Chem. 2010)
    2. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. (PubMed id 20215591)1, 4 Hershberger R.E....Gonzalez-Quintana J. (Circ Cardiovasc Genet 2010)
    3. Predicting cardiomyopathic phenotypes by altering Ca2+ affinity of cardiac troponin C. (PubMed id 20566645)1, 7 Parvatiyar M.S....Potter J.D. (J. Biol. Chem. 2010)
    4. Hypertrophic cardiomyopathy-linked mutation D145E drastically alters calcium binding by the C-domain of cardiac troponin C. (PubMed id 20459070)1, 7 Swindle N. and Tikunova S.B. (Biochemistry 2010)
    5. A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy. (PubMed id 19439414)1, 2 Pinto J.R....Potter J.D. (J. Biol. Chem. 2009)
    6. Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. (PubMed id 20031618)1, 4 Kaski J.P....Elliott P.M. (Circ Cardiovasc Genet 2009)
    7. Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. (PubMed id 18572189)1, 2 Landstrom A.P.... Ackerman M.J. (J. Mol. Cell. Cardiol. 2008)
    8. Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C. (PubMed id 16302972)1, 2 Schmidtmann A.... Jaquet K. (FEBS J. 2005)
    9. Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. (PubMed id 15542288)1, 2 Mogensen J.... McKenna W.J. (J. Am. Coll. Cardiol. 2004)
    10. 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)

    (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: 7134 HGNC: 11943 AceView: TNNC1 Ensembl:ENSG00000114854 euGenes: HUgn7134
    ECgene: TNNC1 Kegg: 7134 H-InvDB: TNNC1

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for TNNC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TNNC1 gene:
    Search GeneIP for patents involving TNNC1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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