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. [prov... See more...

Aliases for TNNC2 Gene

Aliases for TNNC2 Gene

  • Troponin C2, Fast Skeletal Type 2 3 5
  • Troponin C, Skeletal Muscle 3 4
  • Troponin C Type 2 (Fast) 2 3

External Ids for TNNC2 Gene

Previous GeneCards Identifiers for TNNC2 Gene

  • GC20M044180
  • GC20M044140
  • GC20M045090
  • GC20M045137
  • GC20M043885
  • GC20M044451
  • GC20M041193

Summaries for TNNC2 Gene

Entrez Gene Summary for TNNC2 Gene

  • 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]

GeneCards Summary for TNNC2 Gene

TNNC2 (Troponin C2, Fast Skeletal Type) is a Protein Coding gene. Diseases associated with TNNC2 include Distal Arthrogryposis. Among its related pathways are Cardiac conduction and Calcium signaling pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and actin binding. An important paralog of this gene is TNNC1.

UniProtKB/Swiss-Prot Summary for TNNC2 Gene

  • Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments.

Gene Wiki entry for TNNC2 Gene

Additional gene information for TNNC2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TNNC2 Gene

Genomics for TNNC2 Gene

GeneHancer (GH) Regulatory Elements for TNNC2 Gene

Promoters and enhancers for TNNC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J045832 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.6 -0.8 -796 4.3 LCORL RBPJ MIXL1 ZNF362 NFYC HLF L3MBTL2 POLR2A TEAD4 RERE SNX21 TNNC2 NCOA5 WFDC3 CD40 PCIF1 ZNF334 ZSWIM3 SYS1 PI3
GH20J045825 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.4 +6.1 6120 3.9 SREBF1 ZNF121 AHR PRDM1 ZIC2 NFKBIZ KAT7 EGR1 SAP130 TFDP1 TNNC2 WFDC3 SNX21 CD40 ENSG00000237464 HSALNG0130426
GH20J045853 Promoter/Enhancer 0.8 EPDnew ENCODE 750.3 -20.4 -20431 2.3 SP1 GLIS1 NANOG KLF1 TNNC2 WFDC3 ENSG00000237464 ACOT8 lnc-TNNC2-1 ENSG00000277051
GH20J045843 Promoter/Enhancer 0.7 EPDnew dbSUPER 750.4 -9.9 -9941 0.1 POLR2A SCRT2 SCRT1 piR-37993 TNNC2 RF00017-3601 ACOT8 lnc-TNNC2-1
GH20J045933 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 -102.5 -102503 6.5 SIN3A ZNF24 ZBTB40 SP1 CTCF SIX5 ZBTB6 MLX RBPJ SMARCE1 PCIF1 ENSG00000285796 NCOA5 UBE2C SLC12A5 SPATA25 ZNF335 PLTP SLC35C2 ZNF663P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TNNC2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TNNC2 gene promoter:
  • AhR
  • Arnt
  • c-Myc
  • Egr-2
  • Egr-3
  • HFH-1
  • Lmo2
  • Max1
  • Msx-1
  • MyoD

Genomic Locations for TNNC2 Gene

Genomic Locations for TNNC2 Gene
chr20:45,823,214-45,833,745
(GRCh38/hg38)
Size:
10,532 bases
Orientation:
Minus strand
chr20:44,451,853-44,462,384
(GRCh37/hg19)
Size:
10,532 bases
Orientation:
Minus strand

Genomic View for TNNC2 Gene

Genes around TNNC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TNNC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TNNC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TNNC2 Gene

Proteins for TNNC2 Gene

  • Protein details for TNNC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02585-TNNC2_HUMAN
    Recommended name:
    Troponin C, skeletal muscle
    Protein Accession:
    P02585
    Secondary Accessions:
    • Q6FH92

    Protein attributes for TNNC2 Gene

    Size:
    160 amino acids
    Molecular mass:
    18122 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Skeletal muscle troponin C binds four calcium ions.

neXtProt entry for TNNC2 Gene

Post-translational modifications for TNNC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TNNC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TNNC2 Gene

Domains & Families for TNNC2 Gene

Gene Families for TNNC2 Gene

Protein Domains for TNNC2 Gene

Suggested Antigen Peptide Sequences for TNNC2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ76408, highly similar to Homo sapiens troponin C type 2 (fast) (TNNC2), mRNA (Q6FH92_HUMAN)
  • Troponin C, skeletal muscle (TNNC2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P02585

UniProtKB/Swiss-Prot:

TNNC2_HUMAN :
  • Belongs to the troponin C family.
Family:
  • Belongs to the troponin C family.
genes like me logo Genes that share domains with TNNC2: view

Function for TNNC2 Gene

Molecular function for TNNC2 Gene

UniProtKB/Swiss-Prot Function:
Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments.
GENATLAS Biochemistry:
troponin C2,calcium binding 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

Phenotypes From GWAS Catalog for TNNC2 Gene

Gene Ontology (GO) - Molecular Function for TNNC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 contributes_to actin binding IDA 17194691
GO:0005509 calcium ion binding IBA,IEA 21873635
GO:0005515 protein binding IPI 25416956
GO:0046872 metal ion binding IEA --
GO:0048306 calcium-dependent protein binding IBA 21873635
genes like me logo Genes that share ontologies with TNNC2: view
genes like me logo Genes that share phenotypes with TNNC2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TNNC2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TNNC2 Gene

Localization for TNNC2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TNNC2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TNNC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005861 troponin complex IDA 17194691
genes like me logo Genes that share ontologies with TNNC2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TNNC2 Gene

Pathways & Interactions for TNNC2 Gene

genes like me logo Genes that share pathways with TNNC2: view

Pathways by source for TNNC2 Gene

1 BioSystems pathway for TNNC2 Gene
2 Reactome pathways for TNNC2 Gene
1 KEGG pathway for TNNC2 Gene

Gene Ontology (GO) - Biological Process for TNNC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003009 skeletal muscle contraction IDA 17194691
GO:0006937 regulation of muscle contraction IBA,TAS 21873635
GO:0030049 muscle filament sliding TAS --
genes like me logo Genes that share ontologies with TNNC2: view

No data available for SIGNOR curated interactions for TNNC2 Gene

Drugs & Compounds for TNNC2 Gene

(4) Drugs for TNNC2 Gene - From: DrugBank, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Felodipine Approved, Investigational Pharma Potentiation, Activator, Target, other 22
Calcium Approved Nutra Target, agonist 7773
Octylphenoxy polyethoxyethanol Experimental Pharma Target 0
TIRAMSETIV Pharma 0
genes like me logo Genes that share compounds with TNNC2: view

Transcripts for TNNC2 Gene

mRNA/cDNA for TNNC2 Gene

(1) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(326) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TNNC2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TNNC2 Gene

No ASD Table

Relevant External Links for TNNC2 Gene

GeneLoc Exon Structure for
TNNC2
ECgene alternative splicing isoforms for
TNNC2

Expression for TNNC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TNNC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TNNC2 Gene

This gene is overexpressed in Muscle - Skeletal (x51.6).

Protein differential expression in normal tissues from HIPED for TNNC2 Gene

This gene is overexpressed in Esophagus (30.4), Tonsil (25.7), and Stomach (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TNNC2 Gene



NURSA nuclear receptor signaling pathways regulating expression of TNNC2 Gene:

TNNC2

SOURCE GeneReport for Unigene cluster for TNNC2 Gene:

Hs.182421

Evidence on tissue expression from TISSUES for TNNC2 Gene

  • Muscle(5)
  • Heart(4.5)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with TNNC2: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TNNC2 Gene

Orthologs for TNNC2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TNNC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TNNC2 33 32
  • 100 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TNNC2 33
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TNNC2 33 32
  • 94.17 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TNNC2 33 32
  • 93.5 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tnnc2 32
  • 91.46 (n)
mouse
(Mus musculus)
Mammalia Tnnc2 17 33 32
  • 90.21 (n)
chicken
(Gallus gallus)
Aves TNNC2 33 32
  • 87.71 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 41 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tnnc2 32
  • 81.34 (n)
MGC75744 32
African clawed frog
(Xenopus laevis)
Amphibia MGC53213 32
zebrafish
(Danio rerio)
Actinopterygii tnnc2 33 32
  • 76.67 (n)
OneToMany
TNNC2 (2 of 2) 33
  • 76 (a)
OneToMany
tnnc 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9508 32
fruit fly
(Drosophila melanogaster)
Insecta And 33
  • 47 (a)
ManyToMany
CG31960 33
  • 41 (a)
ManyToMany
CG11165 33
  • 35 (a)
ManyToMany
CG31958 33
  • 32 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea cal-2 33
  • 40 (a)
ManyToMany
cal-1 33
  • 38 (a)
ManyToMany
cal-3 33
  • 29 (a)
ManyToMany
cal-4 33
  • 25 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CMD1 33
  • 42 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 51 (a)
OneToOne
Species where no ortholog for TNNC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TNNC2 Gene

ENSEMBL:
Gene Tree for TNNC2 (if available)
TreeFam:
Gene Tree for TNNC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TNNC2: view image

Paralogs for TNNC2 Gene

Paralogs for TNNC2 Gene

(34) SIMAP similar genes for TNNC2 Gene using alignment to 2 proteins:

  • TNNC2_HUMAN
  • C9J7T9_HUMAN
genes like me logo Genes that share paralogs with TNNC2: view

Variants for TNNC2 Gene

Sequence variations from dbSNP and Humsavar for TNNC2 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000528307 -- 45,823,546(-) G/A intron_variant
rs1000573167 -- 45,829,807(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000587637 -- 45,825,912(-) G/A intron_variant
rs1000654231 -- 45,827,623(-) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000972499 -- 45,833,754(-) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for TNNC2 Gene

Variant ID Type Subtype PubMed ID
nsv586132 CNV loss 21841781
nsv833990 CNV loss 17160897
nsv954045 CNV deletion 24416366

Variation tolerance for TNNC2 Gene

Residual Variation Intolerance Score: 40.1% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TNNC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TNNC2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TNNC2 Gene

Disorders for TNNC2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TNNC2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
distal arthrogryposis
  • freeman-sheldon syndrome
- elite association - COSMIC cancer census association via MalaCards
Search TNNC2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TNNC2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TNNC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TNNC2 Gene

Publications for TNNC2 Gene

  1. Cloning, structural analysis, and expression of the human fast twitch skeletal muscle troponin C gene. (PMID: 2373703) Gahlmann R … Kedes L (The Journal of biological chemistry 1990) 2 3 4 23 56
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 43 56
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 56
  5. Differential expression of slow and fast skeletal muscle troponin C. Slow skeletal muscle troponin C is expressed in human fibroblasts. (PMID: 3166492) Gahlmann R … Kedes L (Journal of molecular biology 1988) 3 4 56

Products for TNNC2 Gene

Sources for TNNC2 Gene