Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

TNNI2 Gene

protein-coding   GIFtS: 63
GCID: GC11P001860

troponin I type 2 (skeletal, fast)

(Previous names: troponin I, skeletal, fast )
 Explore 10 diseases affiliated with
TNNI2 via our new
 Human Malady Compendium 
Biological research products
for TNNI2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Troponin I Type 2 (Skeletal, Fast)1 2     Fast-Twitch Skeletal Muscle Troponin I2
AMCD2B1 2 5     FsTnI1
DA2B1 2 5     Troponin I Fast Twitch 22
FSSV1 2 5     Troponin I, Fast Skeletal Muscle2
Troponin I, Skeletal, Fast1 2     Troponin I, Fast-Twitch Skeletal Muscle Isoform2
Troponin I, Fast-Twitch Isoform2 3     

External Ids:    HGNC: 119461   Entrez Gene: 71362   Ensembl: ENSG000001305987   OMIM: 1910435   UniProtKB: P487883   

Export aliases for TNNI2 gene to outside databases

Previous GC identifers: GC11M000778 GC11M001963 GC11P001819 GC11P001825 GC11P001821 GC11P001824 GC11P001651


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

Entrez Gene summary for TNNI2:
This gene encodes a fast-twitch skeletal muscle protein, a member of the troponin I gene family, and a component of the
troponin complex including troponin T, troponin C and troponin I subunits. The troponin complex, along with
tropomyosin, is responsible for the calcium-dependent regulation of striated muscle contraction. Mouse studies show
that this component is also present in vascular smooth muscle and may play a role in regulation of smooth muscle
function. In addition to muscle tissues, this protein is found in corneal epithelium, cartilage where it is an
inhibitor of angiogenesis to inhibit tumor growth and metastasis, and mammary gland where it functions as a
co-activator of estrogen receptor-related receptor alpha. This protein also suppresses tumor growth in human ovarian
carcinoma. Mutations in this gene cause myopathy and distal arthrogryposis type 2B. Alternatively spliced transcript
variants have been found for this gene. (provided by RefSeq, Mar 2009)

UniProtKB/Swiss-Prot: TNNI2_HUMAN, P48788
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 TNNI2


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TNNI2 gene promoter:
         COUP-TF1   COUP   Lmo2   HNF-4alpha2   AP-4   Tal-1beta   Roaz   HNF-4alpha1   E47   COUP-TF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTNNI2 promoter sequence
   Search SABiosciences Chromatin IP Primers for TNNI2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TNNI2


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

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.5   HGNC cytogenetic band: 11p15.5

TNNI2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TNNI2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P001860:  view genomic region     (about GC identifiers)

Start:
1,860,219 bp from pter      End:
1,862,910 bp from pter
Size:
2,692 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TNNI2_HUMAN, P48788 (See protein sequence)
Recommended Name: Troponin I, fast skeletal muscle  
Size: 182 amino acids; 21339 Da
Subunit: Binds to actin and tropomyosin
Secondary accessions: A6NIV8 A6NJU5
Alternative splicing: 2 isoforms:  P48788-1   P48788-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TNNI2: NX_P48788

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P48788

  • TNNI2 Protein expression data from MOPED and PaxDb:    About this image 
    TNNI2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001139301.1  NP_001139313.1  NP_003273.1  

    ENSEMBL proteins: 
     ENSP00000371336   ENSP00000371331   ENSP00000371330   ENSP00000252898  
    Reactome Protein details: P48788
    Human Recombinant Protein Products for TNNI2: 
    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 (see all 2): TNNI2
    OriGene Protein Over-expression Lysate (see all 3): TNNI2
    OriGene Custom Protein Services for TNNI2 
    GenScript Custom Purified and Recombinant Proteins Services for TNNI2
    Novus Biologicals TNNI2 Proteins
    Novus Biologicals TNNI2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TNNI2

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA18331830
    GO:0005829cytosol TAS--
    GO:0005861troponin complex IDA17194691

    TNNI2 for ontologies           About GeneDecksing



    TNNI2 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies: TNNI2
    OriGene Custom Antibody Services for TNNI2 
    GenScript Custom Superior Antibodies Services for TNNI2
    Novus Biologicals TNNI2 Antibodies
    Abcam antibodies for TNNI2 
    Uscn Antibodies for TNNI2
    ThermoFisher Antibody for TNNI2

    Assay Products for TNNI2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TNNI2
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for TNNI2


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

    TNNI2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR001978 Troponin

    Graphical View of Domain Structure for InterPro Entry P48788

    ProtoNet protein and cluster: P48788

    1 Blocks protein family: IPB001978 Troponin

    UniProtKB/Swiss-Prot: TNNI2_HUMAN, P48788
    Similarity: Belongs to the troponin I family


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TNNI2_HUMAN, P48788
    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 TNNI2:
    troponin I2,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,fast twitch skeletal
    muscle,organized in pair with TNNT3,tightly linked to TNNT2 and ELF3

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779contributes to actin binding IDA17194691
    GO:0005515protein binding IPI18331830
    GO:0031014troponin T binding IPI17194691
         
    TNNI2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for TNNI2:
     Decreased focal adhesion (FA)   Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TNNI2 

    miRNA
    Products:
        
    OriGene 3'-UTR Clone (see all 3): TNNI2
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TNNI2
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate TNNI2:
    hsa-miR-501-5p hsa-miR-500a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TNNI2 (see all 7)
    OriGene shRNA RFP: TNNI2
    OriGene siRNA: TNNI2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TNNI2
    Sirion Biotech Custom design and validation of potent shRNA sequences against TNNI2 

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TNNI2
    Sirion Biotech Customized adenovirus for overexpression of TNNI2 
    Sirion Biotech Customized adenovirus for potent knockdown of TNNI2

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TNNI2 (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TNNI2 (see all 3)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 3): TNNI2 (NM_001145829)
    Sino Biological Human cDNA Clone for TNNI2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TNNI2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TNNI2 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for TNNI2
    Search LifeMap BioReagents cell lines for TNNI2
    Sirion Biotech Customized stable knockdown cell line services for TNNI2 
    Sirion Biotech Customized inducible knockdown cell line services for TNNI2
    Sirion Biotech Customized stable overexpressing cell line services for TNNI2
    Sirion Biotech Customized inducible overexpressing cell line services for TNNI2

    In Situ Assay
    Products:
       

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for TNNI2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA1.00
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    2Striated Muscle Contraction
    Striated Muscle Contraction1.00
    Muscle contraction0.65
    Striated Muscle Contraction0.87

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TNNI2
        Activation of PKA through GPCR
    PKA Signaling
    cAMP Pathway
    Activation of cAMP-Dependent PKA

    1 BioSystems Pathway for TNNI2 
        Striated Muscle Contraction

    2        Reactome Pathways for TNNI2
        Muscle contraction
    Striated Muscle Contraction



    TNNI2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TNNI2

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

    5/38 Interacting proteins for TNNI2 (P487882, 3 ENSP000002528984) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRIM63Q969Q12, 3, ENSP000003633904MINT-6503650 I2D: score=2 STRING: ENSP00000363390
    CALM1P621583, ENSP000003494674I2D: score=1 STRING: ENSP00000349467
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    SMURF2Q9HAU42, 3, ENSP000002624354MINT-6504030 I2D: score=1 STRING: ENSP00000262435
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003009skeletal muscle contraction IDA17194691
    GO:0030049muscle filament sliding TAS--
    GO:0045893positive regulation of transcription, DNA-dependent IDA18331830

    TNNI2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TNNI2

    1 HMDB Compound for TNNI2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Search CenterWatch for drugs/clinical trials and news about TNNI2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TNNI2 gene (3 alternative transcripts): 
    NM_001145829.1  NM_001145841.1  NM_003282.3  

    Unigene Cluster for TNNI2:

    Troponin I type 2 (skeletal, fast)
    Hs.523403  [show with all ESTs]
    Unigene Representative Sequence: CF552540
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000381911(uc021qbt.1 uc021qbv.1) ENST00000381906(uc021qbu.1)
    ENST00000381905(uc010qxe.1) ENST00000468473 ENST00000252898

    miRNA
    Products:
         
    OriGene 3'-UTR Clone (see all 3): TNNI2
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TNNI2
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate TNNI2:
    hsa-miR-501-5p hsa-miR-500a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TNNI2 (see all 7)
    OriGene shRNA RFP: TNNI2
    OriGene siRNA: TNNI2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TNNI2
    Sirion Biotech Custom design and validation of potent shRNA sequences against TNNI2 
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TNNI2 (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TNNI2 (see all 3)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 3): TNNI2 (NM_001145829)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TNNI2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TNNI2 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TNNI2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TNNI2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TNNI2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TNNI2

    Additional cDNA sequence: 

    BC032148.2 L21715.1 

    4 DOTS entries:

    DT.445756  DT.120728170  DT.99968414  DT.120728179 

    24/225 AceView cDNA sequences (see all 225):

    F21139 F32101 F26809 F29426 F27802 F25906 F31123 F29237 
    F24132 F31485 F22811 F31589 AJ572640 F28965 F26563 F30838 
    F30096 F27640 F16532 F26484 F24773 F26011 F29326 F31532 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for TNNI2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6
    SP1:                          -                     
    SP2:                                                


    ECgene alternative splicing isoforms for TNNI2

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

    TNNI2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGGGCCGGA
    TNNI2 Expression
    About this image

    TNNI2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    10/15 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 15
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbForelimb Dorsal MusclesMultinuclear MyocytesSkeletal Muscle
    LimbForelimb Ventral MusclesMultinuclear MyocytesSkeletal Muscle
    LimbHindlimb Dorsal MuscleMultinuclear MyocytesSkeletal Muscle
    LimbHindlimb Ventral MuscleMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleAnterior Neck MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleCervical Back MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleLumbar Back MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleLumbar Vertebrae Column MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MusclePelvic MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MusclePosterior Neck MusclesMultinuclear MyocytesSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See TNNI2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TNNI2

    SOURCE GeneReport for Unigene cluster: Hs.523403
        SABiosciences Expression via Pathway-Focused PCR Arrays including TNNI2: 
              Angiogenic Growth Factors in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TNNI2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TNNI2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TNNI2
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TNNI2
    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for TNNI2

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

    This gene was present in the common ancestor of animals.

    Orthologs for TNNI2 gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves TNNI21 troponin I type 2 (skeletal, fast) 77.96(n)
    81.11(a)
      396386  NM_205417.1  NP_990748.1 
    lizard
    (Anolis carolinensis)
    Reptilia TNNI26
    --
    77(a)
    1 ↔ 1
    1(70696021-70702004)
    African clawed frog
    (Xenopus laevis)
    Amphibia AF480427.12   -- 82.53(n)    AF480427.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AF425744.12   -- 79.59(n)    AF425744.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta wupA6
    wings up A
    17(a)
    1 → many
    X(17999586-18010855)
    worm
    (Caenorhabditis elegans)
    Secernentea unc-276
    tni-46
    (see all 4)
    Troponin I 4
    (see all 4)
    20(a)
    20(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    X(8789401-8790568)
    IV(5204583-5207130)


    ENSEMBL Gene Tree for TNNI2 (if available)
    TreeFam Gene Tree for TNNI2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TNNI2 gene
    TNNI12  TNNI32  
    2 SIMAP similar genes for TNNI2 using alignment to 1 protein entry:     TNNI2_HUMAN:
    TNNI3    TNNI1

    TNNI2 for paralogs           About GeneDecksing



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

    10/106 NCBI SNPs in TNNI2 are shown (see all 106    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048943121,2
    Cpathogenic1653597(+) ACCTGC/TGAGAC 6 R * stg10--------
    rs1048943111,2
    Cpathogenic1653652(+) GGGCCA/GGAAGA 6 Q R mis10--------
    rs22924761,2
    C,Huntested1652005(+) GGGCTC/GAAAAC 3 -- int1 us2k15Minor allele frequency- G:0.00EA NS 1912
    rs22714411,2
    C,F,Huntested1652811(+) ACCCCG/ACCTCC 3 -- int110Minor allele frequency- A:0.10EA NS NA CSA WA EU 1674
    rs18774441,2
    C,F,A,Huntested1861225(+) ACCCAC/ACCACC 3 -- us2k1 int117Minor allele frequency- A:0.20EA NS NA 1614
    rs9076101,2
    C,F,Huntested1861760(+) CAGAGA/C/G/
            
    GTGAT
    12 R S mis1 syn117NA EA MN CSA WA 3411
    rs1129929091,2
    --1649702(+) GGCCCG/ACTCAC 2 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs110413851,2
    C,F--1650225(+) AGTCAC/TGGTCC 2 -- us2k1 tfbs31Minor allele frequency- T:0.06NA 120
    rs714716731,2
    C,F--1650248(+) CAGGGC/TGGGGG 2 -- us2k12Minor allele frequency- T:0.50NA 4
    rs122883211,2
    F--1650509(+) GGCAGG/AAAGAT 3 -- us2k12Minor allele frequency- A:0.50CSA 4

    HapMap Linkage Disequilibrium report for TNNI2 (1860219 - 1862910 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for TNNI2
         4 CNVs: 29889 29892 29893 29890
    Human Gene Mutation Database (HGMD): TNNI2

    Locus Specific Mutation Databases (LSDB): TNNI2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TNNI2
    DNA2.0 Custom Variant and Variant Library Synthesis for TNNI2

    (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.)
    About This Section

    TNNI2 for disorders           About GeneDecksing

    OMIM gene information: 191043   
    OMIM disorders: 601680  
    UniProtKB/Swiss-Prot: TNNI2_HUMAN, P48788
  • Defects in TNNI2 are a cause of distal arthrogryposis type 2B (DA2B) [MIM:601680]; also known as
  • arthrogryposis multiplex congenita, distal, type 2B (AMCD2B). DA2B is a form of inherited multiple congenital
    contractures. Affected individuals have vertical talus, ulnar deviation in the hands, severe camptodactyly, and a
    distinctive face characterized by a triangular shape, prominent nasolabial folds, small mouth and a prominent chin

    10 diseases for TNNI2:    About MalaCards
    distal arthrogryposis    arthrogryposis    ovarian carcinoma    myopathy
    fissured tongue    carcinoma    nemaline myopathy    atrial fibrillation
    atrophy of testis    pharyngitis

    5 diseases from the University of Copenhagen DISEASES database for TNNI2:
    Distal arthrogryposis     Clubfoot     Fissured tongue     Atrophy of testis
    Nemaline myopathy
    Human Genome Epidemiology (HuGE) Navigator: TNNI2 (3 documents)

    Export disorders for TNNI2 gene to outside databases

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

    PubMed articles for TNNI2 gene, integrated from 9 sources (see all 37):
    (articles sorted by number of sources associating them with TNNI2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structural characterization of the human fast skeletal muscle troponin I gene (TNNI2). (PubMed id 10721725)1, 2, 9 Mullen A.J. and Barton P.J.R. (2000)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. (PubMed id 12592607)1, 2 Sung S.S.... Bamshad M. (2003)
    4. Fine mapping of five human skeletal muscle genes: alpha-tropomyosin, beta-tropomyosin, troponin-I slow-twitch, troponin-I fast-twitch, and troponin-C fast. (PubMed id 9016781)1, 3 Tiso N....Danieli G.A. (1997)
    5. Sequencing of a cDNA encoding the human fast-twitch skeletal muscle isoform of troponin I. (PubMed id 8148383)1, 2 Zhu L.... Wade R. (1994)
    6. A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression. (PubMed id 16802141)1, 9 Jiang M....Li J. (2006)
    7. Distal arthrogryposis: clinical and genetic findings. (PubMed id 22519952)1 Kimber E....Tulinius M. (2012)
    8. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
    9. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    10. Expression of the fast twitch troponin complex, fTnT, fTnI and fTnC, in vascular smooth muscle. (PubMed id 18548613)1 Moran C.M....Krieg P.A. (2008)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7136 HGNC: 11946 AceView: TNNI2 Ensembl:ENSG00000130598 euGenes: HUgn7136
    ECgene: TNNI2 H-InvDB: TNNI2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TNNI2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TNNI2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TNNI2 gene:
    Search GeneIP for patents involving TNNI2

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot 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   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     OriGene Antibodies for TNNI2   OriGene shRNA RFP for TNNI2  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TNNI2   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TNNI2  
     OriGene Protein Over-expression Lysate for TNNI2   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for TNNI2   OriGene 3'-UTR Clone for TNNI2  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TNNI2   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TNNI2  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for TNNI2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for TNNI2   OriGene Custom Protein Services for TNNI2  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TNNI2
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TNNI2
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TNNI2
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TNNI2
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TNNI2
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TNNI2
     GenScript Custom Purified and Recombinant Proteins Services for TNNI2 GenScript cDNA clones with any tag delivered in your preferred vector for TNNI2
     GenScript Custom Assay Services for TNNI2 GenScript Custom Superior Antibodies Services for TNNI2
     GenScript Custom overexpressing Cell Line Services for TNNI2 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
     Search for Antibodies & Assays

     Regulatory tfbs in TNNI2 promoter
     Search Chromatin IP Primers for TNNI2
     RT2 qPCR Primer Assay in human, mouse, rat TNNI2
     GNC Network for TNNI2
     SABiosciences PCR Arrays including human, mouse, rat TNNI2
     Search Tocris compounds for TNNI2
     Browse Sino Biological Proteins and Antibodies
     cDNA Clones for TNNI2
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     TNNI2 antibodies
     TNNI2 proteins
     TNNI2 lysates
     Antibodies for TNNI2
     See all of Abcam's Antibodies, Kits and Proteins for TNNI2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     TNNI2 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for TNNI2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for TNNI2
     Browse SwitchGear 3'UTR luciferase reporter plasmids for TNNI2
     SwitchGear Promoter luciferase reporter plasmids for TNNI2
     ThermoFisher Antibody for TNNI2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TNNI2
     inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TNNI2
    Sirion Biotech Customized:
     stable knockdown cell line services for TNNI2
     inducible knockdown cell line services for TNNI2
     design and validation of potent shRNA sequences against TNNI2
     adenovirus for potent knockdown of TNNI2
     adenovirus for overexpression of TNNI2
     stable overexpressing cell line services for TNNI2
     inducible overexpressing cell line services for TNNI2
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013 , 14 May 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 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      TNNI2 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4