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TNNI2 Gene

protein-coding   GIFtS: 65
GCID: GC11P001860

Troponin I Type 2 (Skeletal, Fast)

(Previous names: troponin I, skeletal, fast, arthrogryposis multiplex congenita,...)
(Previous symbol: AMCD2B)
  See TNNI2-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 I Type 2 (Skeletal, Fast)1 2     Arthrogryposis Multiplex Congenita, Distal, Type 2B1
AMCD2B1 2 5     Fast-Twitch Skeletal Muscle Isoform1
Troponin I, Skeletal, Fast1 2     Troponin I1
Troponin I Fast Twitch 21 2     Fast-Twitch Skeletal Muscle Troponin I2
Troponin I, Fast-Twitch Isoform2 3     fsTnI2
DA2B2 5     Troponin I, Fast Skeletal Muscle2
FSSV2 5     Troponin I, Fast-Twitch Skeletal Muscle Isoform2

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TNNI2 Gene:
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)

GeneCards Summary for TNNI2 Gene:
TNNI2 (troponin I type 2 (skeletal, fast)) is a protein-coding gene. Diseases associated with TNNI2 include distal arthrogryposis, and tnni2-related arthrogryposis multiplex congenita, distal, type 2b. GO annotations related to this gene include actin binding and troponin T binding. An important paralog of this gene is TNNI1.

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 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_000011.9  NC_018922.2  NT_009237.19  
Regulatory elements:
   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 Chromatin IP Primers for TNNI2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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: 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

Explore proteomics data for TNNI2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TNNI2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001139301.1  NP_001139313.1  NP_003273.1  

    ENSEMBL proteins: 
     ENSP00000371336   ENSP00000371331   ENSP00000371330   ENSP00000252898  
    Reactome Protein details: P48788

    TNNI2 Human Recombinant Protein Products:

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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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    1 InterPro protein domain:
     IPR001978 Troponin

    Graphical View of Domain Structure for InterPro Entry P48788

    ProtoNet protein and cluster: P48788

    1 Blocks protein domain: IPB001978 Troponin

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


    Find genes that share domains with TNNI2           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: 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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779contributes to actin binding IDA17194691
    GO:0005515protein binding IPI18331830
    GO:0031014troponin T binding IPI17194691
         
    Find genes that share ontologies with TNNI2           About GenesLikeMe


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

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TNNI2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TNNI2
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    hsa-miR-501-5p hsa-miR-500a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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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
    nucleus5
    cytosol4
    extracellular1
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    Find genes that share ontologies with TNNI2           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 TNNI2 About    
    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


    Find genes that share SuperPaths with TNNI2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe 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


    1 Reactome Pathway for TNNI2
        Striated Muscle Contraction


        Pathway & Disease-focused RT2 Profiler PCR Arrays including TNNI2: 
              Angiogenic Growth Factors in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TNNI2

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

    Selected Interacting proteins for TNNI2 (P487882, 3 ENSP000002528984) via UniProtKB, MINT, STRING, and/or I2D (see all 68)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583, ENSP000003494674I2D: score=1 STRING: ENSP00000349467
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    TRIM63Q969Q12, 3, ENSP000003633904MINT-6503650 I2D: score=2 STRING: ENSP00000363390
    SMURF2Q9HAU42, 3, ENSP000002624354MINT-6504030 I2D: score=1 STRING: ENSP00000262435
    About this table

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

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

    Find genes that share ontologies with TNNI2           About GenesLikeMe



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

    Browse Tocris compounds for TNNI2

    1 HMDB Compound for TNNI2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
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    2 qRT-PCR Assays for microRNAs that regulate TNNI2:
    hsa-miR-501-5p hsa-miR-500a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat TNNI2
      QuantiFast Probe-based Assays in human, mouse, rat TNNI2

    Additional mRNA sequence: 

    BC032148.2 L21715.1 

    4 DOTS entries:

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

    Selected AceView cDNA sequences (see all 225):

    F31532 F28892 F26484 F24773 F24367 F32101 F29426 F29326 
    F26011 F26563 F29237 F31702 F26809 F31123 F28446 F24132 
    F22811 F30838 F31790 F26609 F30096 F28965 AJ572640 F31589 

    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™, 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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    TNNI2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGGGCCGGA
    TNNI2 Expression
    About this image


    TNNI2 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
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 14 entries
             Multinuclear Myocytes Lumbar Back Muscles
     
     Limb (Muscoskeletal System)    fully expand to see all 5 entries
             Multinuclear Myocytes Forelimb Dorsal Muscles
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Monocytes Peripheral Blood
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
     
     Bone (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
    TNNI2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TNNI2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.523403
        Pathway & Disease-focused RT2 Profiler PCR Arrays including TNNI2: 
              Angiogenic Growth Factors in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics 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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for TNNI2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tnni21 , 5 troponin I, skeletal, fast 21, 5 91.21(n)1
    96.7(a)1
      7 (87.93 cM)5
    219531  NM_009405.21  NP_033431.11 
     1424418085 
    chicken
    (Gallus gallus)
    Aves TNNI21 troponin I type 2 (skeletal, fast) 78.52(n)
    82.22(a)
      396386  NM_205417.1  NP_990748.1 
    lizard
    (Anolis carolinensis)
    Reptilia TNNI26
    troponin I type 2 (skeletal, fast)
    78(a)
    1 ↔ 1
    1(70692590-70708569)
    African clawed frog
    (Xenopus laevis)
    Amphibia AF480427.12   -- 82.53(n)    AF480427.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AF425744.12   -- 79.59(n)    AF425744.1 


    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)
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    Paralogs for TNNI2 gene
    TNNI12  TNNI32  
    2 SIMAP similar genes for TNNI2 using alignment to 1 protein entry:     TNNI2_HUMAN:
    TNNI3    TNNI1

    Find genes that share paralogs with TNNI2           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 TNNI2 (see all 200)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0160874
    Arthrogryposis, distal, 2B (DA2B)4--see VAR_0160872 R Q mis40--------
    rs1048943121,2
    Cpathogenic11796764(+) ACCTGC/TGAGAC 6 R * stg10--------
    rs1048943111,2
    Cpathogenic11796819(+) GGGCCA/GGAAGA 6 Q R mis10--------
    rs22924761,2
    C,Huntested11795172(+) GGGCTC/GAAAAC 3 -- int1 us2k15Minor allele frequency- G:0.00EA NS 1912
    rs18774441,2
    C,F,A,Huntested11795291(+) ACCCAC/ACCACC 3 -- int1 us2k117Minor allele frequency- A:0.20EA NS NA 1614
    rs9076101,2
    C,F,Huntested11795826(+) CAGAGA/C/G/
            
    GTGAT
    6 S syn117NA EA MN CSA WA 3411
    rs22714411,2
    C,F,Huntested11795978(+) ACCCCG/ACCTCC 3 -- int110Minor allele frequency- A:0.10EA NS NA CSA WA EU 1674
    rs4849551,2
    C,F,O,A,H--1792328(+) GGGCAC/TGGCGG 1 -- us2k1 tfbs326Minor allele frequency- T:0.16EA NA NS EU 9519
    rs1432210421,2
    C,F--1792332(+) ACGGCG/AGCCCC 1 -- us2k11Minor allele frequency- A:0.00NA 4538
    rs1424183951,2
    C--1792352(+) TGAGGC/TCTTCA 1 -- us2k11Minor allele frequency- T:0.00NA 4534

    HapMap Linkage Disequilibrium report for TNNI2 (1860219 - 1862910 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TNNI2 (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv984n71CNV Loss21882294
    dgv986n71CNV Loss21882294
    nsv896746CNV Loss21882294
    nsv522320CNV Loss19592680
    nsv896731CNV Loss21882294
    dgv985n71CNV Loss21882294
    nsv469926CNV Loss18288195
    nsv896737CNV Loss21882294
    esv29980CNV Loss17803354
    nsv896739CNV Loss21882294

    Human Gene Mutation Database (HGMD): TNNI2
    Locus Specific Mutation Databases (LSDB): TNNI2

    Site Specific Mutation Identification with PCR Assays
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    (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: 191043   
    OMIM disorders: 601680  
    UniProtKB/Swiss-Prot: TNNI2_HUMAN, P48788
  • Arthrogryposis, distal, 2B (DA2B) [MIM:601680]: A form of distal arthrogryposis, a disease characterized
    by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a
    primary neurological or muscle disease. DA2B is characterized by contractures of the hands and feet, and a
    distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 8 diseases for TNNI2:    
    About MalaCards
    distal arthrogryposis    tnni2-related arthrogryposis multiplex congenita, distal, type 2b    arthrogryposis distal type 2b    atrophy of testis
    fissured tongue    arthyrgryposis, distal, type 2b    distal arthrogryposis type 5    arthrogryposis multiplex congenita distal type 1

    5 diseases from the University of Copenhagen DISEASES database for TNNI2:
    Distal arthrogryposis     Clubfoot     Fissured tongue     Atrophy of testis
    Nemaline myopathy

    Find genes that share disorders with TNNI2           About GenesLikeMe

    Genetic Association Database (GAD): TNNI2
    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)
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    PubMed articles for TNNI2 gene, integrated from 10 sources (see all 41):
    (articles sorted by number of sources associating them with TNNI2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. (PubMed id 12592607)1, 2, 3 Sung S.S.... Bamshad M. (Am. J. Hum. Genet. 2003)
    2. 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. (Gene 2000)
    3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. 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. (Biochem. Biophys. Res. Commun. 1997)
    6. Sequencing of a cDNA encoding the human fast-twitch skeletal muscle isoform of troponin I. (PubMed id 8148383)1, 2 Zhu L.... Wade R. (Biochim. Biophys. Acta 1994)
    7. 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. (Hum. Genet. 2006)
    8. A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures. (PubMed id 23850728)1 Li X....Li J. (Gene 2013)
    9. A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease. (PubMed id 23936387)1 A9stensson M....Torinsson-Naluai A.8. (PLoS ONE 2013)
    10. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. (PubMed id 23128233)1 Jostins L....Cho J.H. (Nature 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 7136 HGNC: 11946 AceView: TNNI2 Ensembl:ENSG00000130598 euGenes: HUgn7136
    ECgene: TNNI2 H-InvDB: TNNI2

    (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 TNNI2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TNNI2[genesymbol]

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

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    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, 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
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