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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
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Genomic context

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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

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