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    TNNC2 troponin C2, fast skeletal type [ Homo sapiens (human) ]

    Gene ID: 7125, updated on 3-Apr-2024

    Summary

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    Official Symbol
    TNNC2provided by HGNC
    Official Full Name
    troponin C2, fast skeletal typeprovided by HGNC
    Primary source
    HGNC:HGNC:11944
    See related
    Ensembl:ENSG00000101470 MIM:191039; AllianceGenome:HGNC:11944
    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
    FAP85; CFAP85; CMYP15; MYONRI
    Summary
    Troponin (Tn), a key protein complex in the regulation of striated muscle contraction, is composed of 3 subunits. The Tn-I subunit inhibits actomyosin ATPase, the Tn-T subunit binds tropomyosin and Tn-C, while the Tn-C subunit binds calcium and overcomes the inhibitory action of the troponin complex on actin filaments. The protein encoded by this gene is the Tn-C subunit. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in prostate (RPKM 45.9) and esophagus (RPKM 37.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See TNNC2 in Genome Data Viewer
    Location:
    20q13.12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (45823214..45833306, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (47559705..47569768, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44451853..44455951, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12961 Neighboring gene deoxynucleotidyltransferase terminal interacting protein 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60428 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12962 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:44447254-44447902 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:44449199-44449846 Neighboring gene ubiquitin conjugating enzyme E2 C Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12963 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12964 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12965 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44468841-44469394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44470503-44471055 Neighboring gene sorting nexin family member 21 Neighboring gene MPRA-validated peak4224 silencer Neighboring gene acyl-CoA thioesterase 8 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44482305-44482834 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44482835-44483364 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44483365-44483894 Neighboring gene zinc finger SWIM-type containing 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium. van de Locht M, et al. J Clin Invest, 2021 May 3. PMID 33755597, Free PMC Article
    2. A Mechanism Underlying Sex-Associated Differences in Ankylosing Spondylitis: Troponin C2, Fast Skeletal Type (TNNC2) and Calcium Signaling Pathway. Yu C, et al. Med Sci Monit, 2020 Oct 14. PMID 33052895, Free PMC Article
    3. Assignment of the human fast skeletal muscle troponin C gene (TNNC2) between D20S721 and GCT10F11 on chromosome 20 by somatic cell hybrid analysis. Townsend PJ, et al. Ann Hum Genet, 1997 Sep. PMID 9459007
    4. Tissue restricted gene expression assayed by direct DNA injection into cardiac and skeletal muscle. Prentice H, et al. J Mol Cell Cardiol, 1994 Oct. PMID 7869399
    5. Cloning, structural analysis, and expression of the human fast twitch skeletal muscle troponin C gene. Gahlmann R, et al. J Biol Chem, 1990 Jul 25. PMID 2373703

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium.
      Title: Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium.
    2. A Mechanism Underlying Sex-Associated Differences in Ankylosing Spondylitis: Troponin C2, Fast Skeletal Type (TNNC2) and Calcium Signaling Pathway.
      Title: A Mechanism Underlying Sex-Associated Differences in Ankylosing Spondylitis: Troponin C2, Fast Skeletal Type (TNNC2) and Calcium Signaling Pathway.
    3. Bioinformatics-based discovery of PYGM and TNNC2 as potential biomarkers of head and neck squamous cell carcinoma.
      Title: Bioinformatics-based discovery of PYGM and TNNC2 as potential biomarkers of head and neck squamous cell carcinoma.
    4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Congenital myopathy 15
    MedGen: C5774273 OMIM: 620161 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of troponin C type 2 (TNNC2) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol HIV-1 protease hydrolyzes troponin C at amino acid residues 101-102 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to actin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in skeletal muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in skeletal muscle contraction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in skeletal muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    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

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    Preferred Names
    troponin C, skeletal muscle
    Names
    troponin C type 2 (fast)

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_003279.3 → NP_003270.1  troponin C, skeletal muscle

      See identical proteins and their annotated locations for NP_003270.1

      Status: REVIEWED

      Source sequence(s)
      AI080746, BU854061
      Consensus CDS
      CCDS13375.1
      UniProtKB/Swiss-Prot
      P02585, Q6FH92
      UniProtKB/TrEMBL
      B4DUI9
      Related
      ENSP00000361636.3, ENST00000372555.8
      Conserved Domains (1) summary
      PTZ00184
      Location:12 → 156
      PTZ00184; calmodulin; Provisional

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      45823214..45833306 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011529031.3 → XP_011527333.1  troponin C, skeletal muscle isoform X1

      See identical proteins and their annotated locations for XP_011527333.1

      UniProtKB/TrEMBL
      B4DUI9, C9J7T9
      Related
      ENSP00000361638.1, ENST00000372557.1
      Conserved Domains (1) summary
      PTZ00184
      Location:2 → 141
      PTZ00184; calmodulin; Provisional

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      47559705..47569768 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323961.1 → XP_054179936.1  troponin C, skeletal muscle isoform X1

      UniProtKB/TrEMBL
      C9J7T9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P02585.2 GenPept UniProtKB/Swiss-Prot:P02585

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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