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

    Gene ID: 7137, updated on 6-May-2024

    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; AllianceGenome:HGNC:11947
    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). Troponin I is useful in making a diagnosis of heart failure, and of ischemic heart disease. An elevated level of troponin is also now used as indicator of acute myocardial injury in patients hospitalized with moderate/severe Coronavirus Disease 2019 (COVID-19). Such elevation has also been associated with higher risk of mortality in cardiovascular disease patients hospitalized due to COVID-19. [provided by RefSeq, Aug 2020]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for COVID-19 prognosis.
    Expression
    Restricted expression toward heart (RPKM 1543.0) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TNNI3 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55151767..55157732, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58245731..58251791, complement)
    105.20220307 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 ATAC-STARR-seq lymphoblastoid active region 15077 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:55652829-55653333 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55668291-55668878 Neighboring gene DNAAF3 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11016 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55672120-55673046 Neighboring gene dynein axonemal assembly factor 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:55677361-55677592 Neighboring gene small nucleolar RNA U13

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What'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
    Cardiomyopathy, familial restrictive, 1
    MedGen: C1861861 OMIM: 115210 GeneReviews: Not available
    Compare labs
    Dilated cardiomyopathy 1FF
    MedGen: C2750091 OMIM: 613286 GeneReviews: Not available
    Compare labs
    Dilated cardiomyopathy 2A Compare labs
    Hypertrophic cardiomyopathy 7
    MedGen: C1860752 OMIM: 613690 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2023-05-25)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2023-05-25)

    ClinGen Genome Curation Page

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: DNAAF3

    Clone Names

    • MGC116817

    Gene Ontology Provided by GOA

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

    NEW Try the new Transcript table

    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_000363.5NP_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
      B6D427, Q6FGX2
      Related
      ENSP00000341838.5, ENST00000344887.10
      Conserved Domains (2) summary
      pfam00992
      Location:74177
      Troponin; Troponin
      pfam11636
      Location:131
      Troponin-I_N; Troponin I residues 1-32

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      58245731..58251791 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)