Identity
HGNC
LOCATION
20q13.12
LOCUSID
ALIAS
CFAP85,FAP85
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 7125
MIM: 191039
HGNC: 11944
Ensembl: ENSG00000101470
Variants:
dbSNP: 7125
ClinVar: 7125
TCGA: ENSG00000101470
COSMIC: TNNC2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000101470 | ENST00000372555 | P02585 |
| ENSG00000101470 | ENST00000372557 | C9J7T9 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Calcium signaling pathway | KEGG | ko04020 |
| Calcium signaling pathway | KEGG | hsa04020 |
| Muscle contraction | REACTOME | R-HSA-397014 |
| Striated Muscle Contraction | REACTOME | R-HSA-390522 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33755597 | 2021 | Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium. | 7 |
| 33755597 | 2021 | Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium. | 7 |
| 33052895 | 2020 | A Mechanism Underlying Sex-Associated Differences in Ankylosing Spondylitis: Troponin C2, Fast Skeletal Type (TNNC2) and Calcium Signaling Pathway. | 2 |
| 33052895 | 2020 | A Mechanism Underlying Sex-Associated Differences in Ankylosing Spondylitis: Troponin C2, Fast Skeletal Type (TNNC2) and Calcium Signaling Pathway. | 2 |
| 31324732 | 2019 | Bioinformatics-based discovery of PYGM and TNNC2 as potential biomarkers of head and neck squamous cell carcinoma. | 13 |
| 31324732 | 2019 | Bioinformatics-based discovery of PYGM and TNNC2 as potential biomarkers of head and neck squamous cell carcinoma. | 13 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
Citation
Dessen P
TNNC2 (troponin C2, fast skeletal type)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/75037/tumors-explorer/gene-explorer/
