TNNC2
Troponin C, skeletal muscle
Also known as: CFAP85, FAP85, TNNC2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P02585
- Gene
- TNNC2
- Ensembl
- ENSG00000101470
- Chromosome
- 20
- Canonical length
- 160 aa
- Protein class
- Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Vesicles
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
160 residues, UniProt reviewed canonical sequence.
>P02585|TNNC2
1 MTDQQAEARS YLSEEMIAEF KAAFDMFDAD GGGDISVKEL GTVMRMLGQT PTKEELDAII
61 EEVDEDGSGT IDFEEFLVMM VRQMKEDAKG KSEEELAECF RIFDRNADGY IDPEELAEIF
121 RASGEHVTDE EIESLMKDGD KNNDGRIDFD EFLKMMEGVQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TNNC2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 28,518 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 28,518 nTPM
- tongue: 7,540 nTPM
- salivary gland: 177 nTPM
- esophagus: 121 nTPM
- prostate: 42 nTPM
- basal ganglia: 9.9 nTPM
Single-cell type
- thymic myoid cells: 2,524 nCPM
- enterocytes: 316 nCPM
- myonuclei: 191 nCPM
- colonocytes: 133 nCPM
- salivary duct cells: 131 nCPM
- platelets: 123 nCPM
Immune cell
- total PBMC: 8.7 nTPM
- memory B-cell: 5.3 nTPM
- naive B-cell: 4.7 nTPM
- T-reg: 4 nTPM
- neutrophil: 2 nTPM
- eosinophil: 1.4 nTPM
Brain region
- basal ganglia: 4.3 nTPM
- cerebral cortex: 3.9 nTPM
- white matter: 3.9 nTPM
- cerebellum: 3.3 nTPM
- hypothalamus: 2.5 nTPM
- amygdala: 2.4 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TNNC2.
Disease | AllUniProt
Conditions TNNC2 is implicated in, by any mechanism.
- Congenital myopathy 15 (CMYO15) MIM:620161
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 14 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Congenital myopathy 15
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.08
- gnomAD pLI
- 0.02
- gnomAD missense Z
- 1.2
- DepMap mean gene effect
- -0.08
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TNNC2 as an antibody target. Whether an autoantibody or antibody against TNNC2 could matter depends on whether native TNNC2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TNNC2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label TNNC2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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