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    TNNI3 troponin I3, cardiac type [ Homo sapiens (human) ]

    Gene ID: 7137, updated on 8-Sep-2018

    Summary

    Official Symbol
    TNNI3provided by HGNC
    Official Full Name
    troponin I3, cardiac typeprovided by HGNC
    Primary source
    HGNC:HGNC:11947
    See related
    Ensembl:ENSG00000129991 MIM:191044; Vega:OTTHUMG00000180589
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CMH7; RCM1; cTnI; CMD2A; TNNC1; CMD1FF
    Summary
    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]
    Expression
    Restricted expression toward heart (RPKM 1543.0) See more
    Orthologs

    Genomic context

    See TNNI3 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (55151767..55157732, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55663135..55669100, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene microRNA 7975 Neighboring gene troponin T1, slow skeletal type Neighboring gene uncharacterized LOC101930593 Neighboring gene dynein axonemal assembly factor 3 Neighboring gene synaptotagmin 5

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in TNNI3 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Associated conditions

    Description Tests
    Dilated cardiomyopathy 1FF
    MedGen: C2750091 OMIM: 613286 GeneReviews: Not available
    Compare labs
    Dilated cardiomyopathy 2A
    MedGen: C2678474 OMIM: 611880
    Compare labs
    Familial hypertrophic cardiomyopathy 7
    MedGen: C1860752 OMIM: 613690 GeneReviews: Not available
    Compare labs
    Familial restrictive cardiomyopathy 1
    MedGen: C1861861 OMIM: 115210 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2015-11-20)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated (2015-11-20)

    ClinGen Genome Curation PagePubMed

    Pathways from BioSystems

    • Adrenergic signaling in cardiomyocytes, organism-specific biosystem (from KEGG)
      Adrenergic signaling in cardiomyocytes, organism-specific biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
    • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
      Adrenergic signaling in cardiomyocytes, conserved biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
    • Cardiac Progenitor Differentiation, organism-specific biosystem (from WikiPathways)
      Cardiac Progenitor Differentiation, organism-specific biosystemFactors involved in the induction of cardiac differentiation in vitro and in vivo. This model was based on the below two review articles.
    • Cardiac conduction, organism-specific biosystem (from REACTOME)
      Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
    • Cardiac muscle contraction, organism-specific biosystem (from KEGG)
      Cardiac muscle contraction, organism-specific biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Cardiac muscle contraction, conserved biosystem (from KEGG)
      Cardiac muscle contraction, conserved biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
      Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Dilated cardiomyopathy, conserved biosystem (from KEGG)
      Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Ion homeostasis, organism-specific biosystem (from REACTOME)
      Ion homeostasis, organism-specific biosystemIon channel homeostasis in relation to cardiac conduction is described in this section (Couette et al. 2006, Bartos et al. 2015).
    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
    • Striated Muscle Contraction, organism-specific biosystem (from REACTOME)
      Striated Muscle Contraction, organism-specific biosystemStriated muscle contraction is a process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry, or in short, increased force being exerted on the tendons....
    • Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
      Striated Muscle Contraction, organism-specific biosystemMuscle contraction is the process where muscle tissue is activated by a signal from the nervous system. In case of voluntary action the nervous signals are initiated from the brain by so called actio...
    • cAMP signaling pathway, organism-specific biosystem (from KEGG)
      cAMP signaling pathway, organism-specific biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
    • cAMP signaling pathway, conserved biosystem (from KEGG)
      cAMP signaling pathway, conserved biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: DNAAF3

    Homology

    Clone Names

    • MGC116817

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actin filament binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    calcium channel inhibitor activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    calcium-dependent protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    troponin C binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    troponin T binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cardiac muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cardiac muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular calcium ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heart contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    muscle filament sliding TAS
    Traceable Author Statement
    more info
     
    negative regulation of ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of ATPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cardiac muscle contraction by calcium ion signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of smooth muscle contraction IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of systemic arterial blood pressure by ischemic conditions ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    skeletal muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    vasculogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ventricular cardiac muscle tissue morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cardiac Troponin complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cardiac myofibril IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    sarcomere TAS
    Traceable Author Statement
    more info
    PubMed 
    troponin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    troponin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    troponin I, cardiac muscle
    Names
    cardiomyopathy, dilated 2A (autosomal recessive)
    troponin I type 3 (cardiac)

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007866.2 RefSeqGene

      Range
      5001..10966
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_432

    mRNA and Protein(s)

    1. NM_000363.4NP_000354.4  troponin I, cardiac muscle

      See identical proteins and their annotated locations for NP_000354.4

      Status: REVIEWED

      Source sequence(s)
      AK223451
      Consensus CDS
      CCDS42628.1
      UniProtKB/Swiss-Prot
      P19429
      UniProtKB/TrEMBL
      Q6FGX2
      Related
      ENSP00000341838.5, OTTHUMP00000264736, ENST00000344887.9, OTTHUMT00000452098
      Conserved Domains (2) summary
      pfam00992
      Location:74177
      Troponin; Troponin
      pfam11636
      Location:131
      Troponin-I_N; Troponin I residues 1-32

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

      Range
      55151767..55157732 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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