Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



TNNI3 Gene

protein-coding   GIFtS: 69
GCID: GC19M055663

Troponin I Type 3 (Cardiac)

(Previous names: troponin I, cardiac, cardiomyopathy, dilated 2A (autosomal...)
(Previous symbol: CMD2A)
  See related diseases
at  

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

TryGeneCards Plus

Aliases
Troponin I Type 3 (Cardiac)1 2     RCM12 5
CMD2A1 2 5     Troponin I, Cardiac1
Cardiomyopathy, Dilated 2A (Autosomal Recessive)1 2     cTnI2
TNNC12 3     Troponin I, Cardiac Muscle2
CMD1FF2 5     Cardiac Troponin I3
CMH72 5     

External Ids:    HGNC: 119471   Entrez Gene: 71372   Ensembl: ENSG000001299917   OMIM: 1910445   UniProtKB: P194293   

Export aliases for TNNI3 gene to outside databases

Previous GC identifers: GC19M056535 GC19M056094 GC19M060340 GC19M060354 GC19M051986


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

TryGeneCards Plus

Entrez Gene summary for TNNI3 Gene:
Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin
complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin
interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes:
TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. This gene encodes the TnI-cardiac protein
and is exclusively expressed in cardiac muscle tissues. Mutations in this gene cause familial hypertrophic
cardiomyopathy type 7 (CMH7) and familial restrictive cardiomyopathy (RCM). (provided by RefSeq, Jul 2008)

GeneCards Summary for TNNI3 Gene:
TNNI3 (troponin I type 3 (cardiac)) is a protein-coding gene. Diseases associated with TNNI3 include familial restrictive cardiomyopathy, and infective endocarditis. GO annotations related to this gene include actin binding and protein domain specific binding. An important paralog of this gene is TNNI2.

UniProtKB/Swiss-Prot: TNNI3_HUMAN, P19429
Function: Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers
calcium-sensitivity to striated muscle actomyosin ATPase activity

Gene Wiki entry for TNNI3 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)
About This Section

TryGeneCards Plus
Regulatory elements:
   Regulatory transcription factor binding sites in the TNNI3 gene promoter:
         E2F-4   E2F-3a   E2F-5   AP-4   CUTL1   E2F-2   GATA-1   GATA-2   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTNNI3 promoter sequence
   Search Chromatin IP Primers for TNNI3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TNNI3


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

Entrez Gene cytogenetic band: 19q13.4   Ensembl cytogenetic band:  19q13.42   HGNC cytogenetic band: 19q13.4

TNNI3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TNNI3 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M055663:  view genomic region     (about GC identifiers)

Start:
55,663,135 bp from pter      End:
55,669,141 bp from pter
Size:
6,007 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.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: TNNI3_HUMAN, P19429 (See protein sequence)
Recommended Name: Troponin I, cardiac muscle  
Size: 210 amino acids; 24008 Da
Subunit: Binds to actin and tropomyosin. Interacts with TRIM63. Interacts with STK4/MST1
Selected PDB 3D structures from and Proteopedia for TNNI3 (see all 8):
1J1D (3D)        1J1E (3D)        1LXF (3D)        1MXL (3D)        1OZS (3D)        2KGB (3D)    

Explore the universe of human proteins at neXtProt for TNNI3: NX_P19429

Explore proteomics data for TNNI3 at MOPED

Post-translational modifications: 

  • Phosphorylated at Ser-42 and Ser-44 by PRKCE; phosphorylation increases myocardium contractile dysfunction (By
    similarity). Phosphorylated at Ser-23 and Ser-24 by PRKD1; phosphorylation reduces myofilament calcium
    sensitivity. Phosphorylated preferentially at Thr-31. Phosphorylation by STK4/MST1 alters its binding affinity to
    TNNC1 (cardiac Tn-C) and TNNT2 (cardiac Tn-T)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TNNI3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000354.4  
    ENSEMBL proteins: 
     ENSP00000341838   ENSP00000466729   ENSP00000465258  
    Reactome Protein details: P19429

    TNNI3 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for TNNI3
    OriGene Protein Over-expression Lysate for TNNI3
    OriGene MassSpec for TNNI3
    OriGene Custom Protein Services for TNNI3
    GenScript Custom Purified and Recombinant Proteins Services for TNNI3
    Novus Biologicals TNNI3 Proteins
    Novus Biologicals TNNI3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TNNI3

    TNNI3 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of TNNI3
    R&D Systems Antibodies for TNNI3 (Troponin I)
    Cell Signaling Technology (CST) Antibodies for TNNI3 
    OriGene Antibodies for TNNI3
    OriGene Custom Antibody Services for TNNI3
    Novus Biologicals TNNI3 Antibodies
    Abcam antibodies for TNNI3 (P19429, Q6FH91)
    Cloud-Clone Corp. Antibodies for TNNI3
    ThermoFisher Antibody for TNNI3
    LSBio Antibodies in human, mouse, rat for TNNI3

    TNNI3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for TNNI3
    R&D Systems Luminex Assays for TNNI3 (Troponin I)
    GenScript Custom Assay Services for TNNI3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TNNI3
    Cloud-Clone Corp. CLIAs for TNNI3


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

    TryGeneCards Plus
    2 InterPro protein domains:
     IPR021666 Troponin-I_N
     IPR001978 Troponin

    Graphical View of Domain Structure for InterPro Entry P19429

    ProtoNet protein and cluster: P19429

    1 Blocks protein domain: IPB001978 Troponin

    UniProtKB/Swiss-Prot: TNNI3_HUMAN, P19429
    Similarity: Belongs to the troponin I family


    TNNI3 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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TNNI3_HUMAN, P19429
    Function: Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers
    calcium-sensitivity to striated muscle actomyosin ATPase activity

         Genatlas biochemistry entry for TNNI3:
    troponin I3,inhibitory 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
    muscle,organized in pair with TNNT1

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IDA10806205
    GO:0005515protein binding IPI10806205
    GO:0019855calcium channel inhibitor activity IPI12809519
    GO:0019901protein kinase binding IPI12721663
    GO:0019904protein domain specific binding IPI11984006
         
    TNNI3 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Tnni3):
     behavior/neurological  cardiovascular system  mortality/aging  muscle  respiratory system 

    TNNI3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tnni3tm1Jww for TNNI3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TNNI3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TNNI3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TNNI3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TNNI3

    miRNA
    Products:
        
    miRTarBase miRNAs that target TNNI3:
    hsa-mir-375 (MIRT020004)

    Block miRNA regulation of human, mouse, rat TNNI3 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate TNNI3
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TNNI3
    Predesigned siRNA for gene silencing in human, mouse, rat TNNI3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TNNI3

    Clone
    Products:
         
    OriGene clones in human, mouse for TNNI3 (see all 6)
    OriGene ORF clones in mouse, rat for TNNI3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TNNI3 (NM_000363)
    Sino Biological Human cDNA Clone for TNNI3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TNNI3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TNNI3

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for TNNI3
    Browse ESI BIO Cell Lines and PureStem Progenitors for TNNI3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TNNI3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus3
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0005861troponin complex IDA10806205
    GO:0030016myofibril ----
    GO:0030017sarcomere TAS16754800

    TNNI3 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).
    About This Section

    TryGeneCards Plus

    SuperPaths for TNNI3 About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Striated Muscle Contraction
    Striated Muscle Contraction0.82
    Muscle contraction0.61
    Striated Muscle Contraction0.82
    2Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    3Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Dilated cardiomyopathy0.75
    4Ca-dependent events
    Development Beta adrenergic receptors signaling via cAMP0.32
    5Signal transduction PKA signaling
    Signal transduction PKA signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TNNI3
        Activation of PKA through GPCR
    PKA Signaling
    cAMP Pathway
    Activation of cAMP-Dependent PKA

    2 Cell Signaling Technology (CST) Pathways for TNNI3
        Ca, cAMP and Lipid Signaling
    Cytoskeletal Signaling

    2 GeneGo (Thomson Reuters) Pathways for TNNI3
        Development Beta-adrenergic receptors signaling via cAMP
    Signal transduction PKA signaling

    2 BioSystems Pathways for TNNI3
        Cardiac Progenitor Differentiation
    Striated Muscle Contraction


    1 Reactome Pathway for TNNI3
        Striated Muscle Contraction


    4 Kegg Pathways  (Kegg details for TNNI3):
        Cardiac muscle contraction
    Adrenergic signaling in cardiomyocytes
    Hypertrophic cardiomyopathy (HCM)
    Dilated cardiomyopathy


    TNNI3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including TNNI3: 
              Angiogenic Growth Factors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TNNI3

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

    Selected Interacting proteins for TNNI3 (P194291, 2, 3 ENSP000003418384) via UniProtKB, MINT, STRING, and/or I2D (see all 98)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TNNI3KQ59H181, 3, ENSP000003599284EBI-704146,EBI-704142 I2D: score=3 STRING: ENSP00000359928
    SMURF2Q9HAU42, 3, ENSP000002624354MINT-6503740 I2D: score=1 STRING: ENSP00000262435
    TRIM63Q969Q12, 3, ENSP000003633904MINT-6503400 I2D: score=1 STRING: ENSP00000363390
    TNNC1P633163, ENSP000002329754I2D: score=3 STRING: ENSP00000232975
    ACTA1P681333, ENSP000003556454I2D: score=1 STRING: ENSP00000355645
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001570vasculogenesis ISS--
    GO:0001980regulation of systemic arterial blood pressure by ischemic conditions ISS--
    GO:0006874cellular calcium ion homeostasis ISS--
    GO:0006937regulation of muscle contraction ----
    GO:0006940regulation of smooth muscle contraction IEA--

    TNNI3 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)
    About This Section

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

    Browse Tocris compounds for TNNI3

    1 HMDB Compound for TNNI3    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    1 DrugBank Compound for TNNI3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    N-(6-Aminohexyl)-5-Chloro-1-Naphthalenesulfonamide-- --target--10592235

    4 Novoseek inferred chemical compound relationships for TNNI3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    creatinine 48.3 29 10498300 (1), 15546893 (1), 16594583 (1), 20305926 (1) (see all 17)
    lactate 20.8 2 10498300 (1), 16594583 (1)
    calcium 0.759 7 15961398 (3), 15753841 (1), 10806205 (1)
    potassium 0 2 15753841 (1), 12552558 (1)



    TNNI3 for compounds           About GeneDecksing



    (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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for TNNI3 gene: 
    NM_000363.4  

    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000585806 ENST00000589864 ENST00000344887(uc002qjg.4 uc010yft.2)
    ENST00000588882 ENST00000586669 ENST00000587176 ENST00000590463 ENST00000586858
    ENST00000586446
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TNNI3 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate TNNI3
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for TNNI3
    Predesigned siRNA for gene silencing in human, mouse, rat TNNI3
    Clone
    Products:
         
    OriGene clones in human, mouse for TNNI3 (see all 6)
    OriGene ORF clones in mouse, rat for TNNI3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TNNI3 (NM_000363)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TNNI3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TNNI3
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for TNNI3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TNNI3
      QuantiTect SYBR Green Assays in human, mouse, rat TNNI3
      QuantiFast Probe-based Assays in human, mouse, rat TNNI3

    Selected AceView cDNA sequences (see all 186):

    AJ707665 AK097388 C05482 AJ707484 AJ709308 BM975931 AJ711940 BQ230791 
    BG213205 BP369561 C05613 M64247 CR541985 BI917128 AJ711958 NM_178837 
    AJ709215 BG189989 C05351 N90905 BG210501 AK093458 BC016843 AW207185 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for TNNI3    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b ^ 6a · 6b
    SP1:        -     -           -     -                                             
    SP2:                          -     -                                             
    SP3:                                                                              
    SP4:                          -                                                   


    ECgene alternative splicing isoforms for TNNI3

    (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)
    About This Section

    TryGeneCards Plus

    TNNI3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGCAGGCGC
    TNNI3 Expression
    About this image


    TNNI3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 11 entries
             Cardiomyocytes Outflow Tract
             Heart Tube
             Encapsulated Embryoid Bodies
     
     NULL (Uncategorized)    fully expand to see all 4 entries
             Cardiomyocyte-like cells
     
     Testis (Reproductive System)
             Sertoli cells Seminiferous Tubules
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Fibroblasts
             Cardiac Fibroblasts Myocardium
    TNNI3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TNNI3 Protein Expression
        Pathway & Disease-focused RT2 Profiler PCR Array including TNNI3: 
              Angiogenic Growth Factors in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for TNNI3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TNNI3
    QuantiTect SYBR Green Assays in human, mouse, rat TNNI3
    QuantiFast Probe-based Assays in human, mouse, rat TNNI3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TNNI3

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

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for TNNI3 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tnni31 , 5 troponin I, cardiac 31, 5 88.89(n)1
    92.86(a)1
      7 (2.61 cM)5
    219541  NM_009406.31  NP_033432.11 
     45183055 
    lizard
    (Anolis carolinensis)
    Reptilia TNNI36
    troponin I type 3 (cardiac)
    62(a)
    1 ↔ 1
    GL343355.1(850179-858077)
    African clawed frog
    (Xenopus laevis)
    Amphibia BX844794.12   -- 75.33(n)    BX844794.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tnni1al6
    tnni1c6
    (see all 6)
    troponin I, skeletal, slow c
    (see all 6)
    58(a)
    57(a)
    (see all 6)
    many ↔ many
    many ↔ many
    (see all 6)
    25(20581543-20588410) ENSDARG00000036671
    18(5711193-5720269) ENSDARG00000042559


    ENSEMBL Gene Tree for TNNI3 (if available)
    TreeFam Gene Tree for TNNI3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for TNNI3 gene
    TNNI22  TNNI12  
    2 SIMAP similar genes for TNNI3 using alignment to 12 protein entries:     TNNI3_HUMAN (see all proteins):
    TNNI2    TNNI1

    TNNI3 for paralogs           About GeneDecksing



    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for TNNI3 (see all 263)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs776154011,2,,4
    C,FCardiomyopathy, familial hypertrophic 7 (CMH7)4 pathogenic155820202(+) CAGCGG/ACTGGC 2 /P /S mis11Minor allele frequency- A:0.02WA 118
    VAR_0294544
    Cardiomyopathy, familial hypertrophic 7 (CMH7)4--see VAR_0294542 S F mis40--------
    VAR_0076044
    Cardiomyopathy, familial hypertrophic 7 (CMH7)4--see VAR_0076042 K Q mis40--------
    VAR_0439894
    Cardiomyopathy, dilated 2A (CMD2A)4--see VAR_0439892 A V mis40--------
    VAR_0160794
    Cardiomyopathy, familial restrictive 1 (RCM1)4--see VAR_0160792 L Q mis40--------
    VAR_0427454
    Cardiomyopathy, familial hypertrophic 7 (CMH7)4--see VAR_0427452 R Q mis40--------
    VAR_0076034
    Cardiomyopathy, familial hypertrophic 7 (CMH7)4--see VAR_0076032 R G mis40--------
    rs289348711,2,4
    Cardiomyopathy, familial restrictive 1 (RCM1)4--see VAR_0160802 mis40--------
    VAR_0160814
    Cardiomyopathy, familial restrictive 1 (RCM1)4--see VAR_0160812 A T mis40--------
    rs289348701,2,4
    Cardiomyopathy, familial restrictive 1 (RCM1)4--see VAR_0160822 mis40--------

    HapMap Linkage Disequilibrium report for TNNI3 (55663135 - 55669141 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for TNNI3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2485681CNV Deletion19546169
    esv1785452CNV Insertion17803354
    nsv912451CNV Loss21882294

    Human Gene Mutation Database (HGMD): TNNI3
    Locus Specific Mutation Databases (LSDB): TNNI3

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TNNI3
    DNA2.0 Custom Variant and Variant Library Synthesis for TNNI3

    (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.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 191044   
    OMIM disorders: 613690  115210  611880  613286  
    UniProtKB/Swiss-Prot: TNNI3_HUMAN, P19429
  • Cardiomyopathy, familial hypertrophic 7 (CMH7) [MIM:613690]: 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
  • Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210]: A heart disorder characterized by impaired
    filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness
    and systolic function. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Cardiomyopathy, dilated 2A (CMD2A) [MIM:611880]: 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, dilated 1FF (CMD1FF) [MIM:613286]: 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

  • Selected diseases for TNNI3 (see all 56):    
    About MalaCards
    familial restrictive cardiomyopathy    infective endocarditis    rectum adenocarcinoma    cardiomyopathy, familial hypertrophic, 7
    cardiomyopathy, dilated, 1ff    tnni3-related familial restrictive cardiomyopathy    tnni3-related familial hypertrophic cardiomyopathy    tnni3-related dilated cardiomyopathy
    restrictive cardiomyopathy    endocarditis    intermediate coronary syndrome    cardiomyopathy, dilated, 2a
    hypertrophic cardiomyopathy    gas gangrene    myocardial stunning    pericardial effusion
    diabetic ketoacidosis    familial hypertrophic cardiomyopathy    acute myocardial infarction    ischemic heart disease

    12 diseases from the University of Copenhagen DISEASES database for TNNI3:
    Myocardial infarction     Coronary heart disease     Intermediate coronary syndrome     Hypertrophic cardiomyopathy
    Vascular disease     Familial hypertrophic cardiomyopathy     Myocarditis     Restrictive cardiomyopathy
    Dilated cardiomyopathy     Congestive heart failure     Kidney failure     Ventricular septal defect

    TNNI3 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for TNNI3 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cardiomyopathy restrictive 70.2 6 15961398 (3), 18006163 (2)
    cardiomyopathy 54 1 20124440 (1)
    dilated cardiomyopathy 48 2 20124440 (1), 17021793 (1)
    death sudden cardiac 47.7 1 15524171 (1)
    heart failure 45.5 7 15840586 (2), 17680620 (1), 15524171 (1), 15513324 (1) (see all 5)
    acute myocardial infarction 39.8 4 7656437 (1), 11587129 (1), 9028628 (1)
    muscular dystrophy duchenne 35.1 5 11026100 (3), 10585344 (1)
    heart diseases 34.8 3 9741821 (1), 10627877 (1)
    myopathy 23.7 4 11026100 (2), 9028628 (1)
    myocardial infarction 11.3 1 11277863 (1)

    GeneTests: TNNI3
    GeneReviews: TNNI3
    Genetic Association Database (GAD): TNNI3
    Human Genome Epidemiology (HuGE) Navigator: TNNI3 (24 documents)

    Export disorders for TNNI3 gene to outside databases

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

    TryGeneCards Plus

    PubMed articles for TNNI3 gene, integrated from 10 sources (see all 290):
    (articles sorted by number of sources associating them with TNNI3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. (PubMed id 9241277)1, 2, 3, 9 Kimura A.... Sasazuki T. (Nat. Genet. 1997)
    2. Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. (PubMed id 16199542)1, 2, 4, 9 Ingles J.... Semsarian C. (J. Med. Genet. 2005)
    3. Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. (PubMed id 19590045)1, 2, 4 Carballo S.... Watkins H. (Circ. Res. 2009)
    4. Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy. (PubMed id 10806205)1, 3, 9 Elliott K....Redwood C.S. (J. Biol. Chem. 2000)
    5. 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, 9 Hershberger R.E....Gonzalez-Quintana J. (Circ Cardiovasc Genet 2010)
    6. [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. (PubMed id 19150014)1, 4, 9 GarcA-a-Castro M....MorA-s C. (Rev Esp Cardiol 2009)
    7. Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. (PubMed id 20031618)1, 4, 9 Kaski J.P....Elliott P.M. (Circ Cardiovasc Genet 2009)
    8. Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. (PubMed id 12531876)1, 2, 9 Mogensen J.... McKenna W.J. (J. Clin. Invest. 2003)
    9. Isolation and characterization of the human cardiac troponin I gene (TNNI3). (PubMed id 8661099)1, 2, 9 Bhavsar P.K.... Barton P.J.R. (Genomics 1996)
    10. Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives. (PubMed id 19035361)1, 4, 9 Andersen P.S....Bundgaard H. (Hum. Mutat. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 7137 HGNC: 11947 AceView: TNNI3 Ensembl:ENSG00000129991 euGenes: HUgn7137
    ECgene: TNNI3 Kegg: 7137 H-InvDB: TNNI3

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for TNNI3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TNNI3[genesymbol]

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

    TryGeneCards Plus
    Patent Information for TNNI3 gene:
    Search GeneIP for patents involving TNNI3

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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)
    About This Section

    TryGeneCards Plus

     EMD Millipore Mono- and Polyclonal Antibodies for the study of TNNI3
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     Browse Small Molecules at EMD Millipore
     
     EMD Millipore genomic analysis products

      
     Antibodies for TNNI3 (Troponin I)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Luminex Assays for TNNI3 (Troponin I)  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for TNNI3   OriGene RNAi products in human, mouse, rat for TNNI3  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for TNNI3  
     OriGene MassSpec something-or-other for TNNI3   OriGene clones in human, mouse for TNNI3  
     OriGene qSTAR qPCR primer pairs in human, mouse for TNNI3   OriGene Purified Protein for TNNI3  
     OriGene ORF clones in mouse, rat for TNNI3   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for TNNI3   OriGene Custom Protein Services for TNNI3  

     
     
     Block miRNA regulation of human, mouse, rat TNNI3 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing TNNI3
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TNNI3 Predesigned siRNA for gene silencing in human, mouse, rat TNNI3
     QuantiFast Probe-based Assays in human, mouse, rat TNNI3 QuantiTect SYBR Green Assays in human, mouse, rat TNNI3
     PCR Arrays including human, mouse, rat TNNI3 Search Chromatin IP Primers for TNNI3
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TNNI3  GeneGlobe Interaction Network for TNNI3
     Regulatory tfbs in TNNI3 promoter
     GenScript Custom Purified and Recombinant Proteins Services for TNNI3 GenScript cDNA clones with any tag delivered in your preferred vector for TNNI3
     GenScript Custom Assay Services for TNNI3 GenScript Custom overexpressing Cell Line Services for TNNI3
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Antibodies & Assays for TNNI3 

     Search Tocris compounds for TNNI3
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for TNNI3
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     TNNI3 antibodies
     TNNI3 proteins
     TNNI3 lysates
     Antibodies for TNNI3
     See all of Abcam's Antibodies, Kits and Proteins for TNNI3
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for TNNI3
     Antibodies for TNNI3
     ELISAs for TNNI3
     CLIAs for TNNI3



     Browse ESI BIO Cell Lines and PureStem Progenitors for TNNI3
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TNNI3
     Browse SwitchGear 3'UTR luciferase reporter plasmids for TNNI3
     SwitchGear Promoter luciferase reporter plasmids for TNNI3
     ThermoFisher Antibody for TNNI3
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TNNI3
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TNNI3
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TNNI3
     LSBio Antibodies in human, mouse, rat for TNNI3
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      TNNI3 gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4