Identity
HGNC
LOCATION
17q12
LOCUSID
ALIAS
CMD1N,CMH25,LGMD2G,LGMDR7,T-cap,TELE,telethonin
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: 8557
MIM: 604488
HGNC: 11610
Ensembl: ENSG00000173991
Variants:
dbSNP: 8557
ClinVar: 8557
TCGA: ENSG00000173991
COSMIC: TCAP
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000173991 | ENST00000309889 | O15273 |
| ENSG00000173991 | ENST00000309889 | A2TDC0 |
| ENSG00000173991 | ENST00000578283 | J3KT40 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Muscle contraction | REACTOME | R-HSA-397014 |
| Striated Muscle Contraction | REACTOME | R-HSA-390522 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37216648 | 2023 | The clinical features and TCAP mutation spectrum in a Chinese cohort of patients with limb-girdle muscular dystrophy R7. | 1 |
| 37752589 | 2023 | TCAP gene is not a common cause of cardiomyopathy in Iranian patients. | 0 |
| 37216648 | 2023 | The clinical features and TCAP mutation spectrum in a Chinese cohort of patients with limb-girdle muscular dystrophy R7. | 1 |
| 37752589 | 2023 | TCAP gene is not a common cause of cardiomyopathy in Iranian patients. | 0 |
| 32761539 | 2021 | Distal myopathy due to TCAP variants in four unrelated Chinese patients. | 2 |
| 32761539 | 2021 | Distal myopathy due to TCAP variants in four unrelated Chinese patients. | 2 |
| 32565061 | 2020 | Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathy. | 4 |
| 32588437 | 2020 | Telethonin variants found in Brugada syndrome, J-wave pattern ECG, and ARVC reduce peak Na(v) 1.5 currents in HEK-293 cells. | 4 |
| 32565061 | 2020 | Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathy. | 4 |
| 32588437 | 2020 | Telethonin variants found in Brugada syndrome, J-wave pattern ECG, and ARVC reduce peak Na(v) 1.5 currents in HEK-293 cells. | 4 |
| 29935994 | 2018 | Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation. | 3 |
| 29935994 | 2018 | Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation. | 3 |
| 28811266 | 2017 | Expression and purification of a difficult sarcomeric protein: Telethonin. | 2 |
| 28811266 | 2017 | Expression and purification of a difficult sarcomeric protein: Telethonin. | 2 |
| 24280220 | 2014 | Phosphoregulation of the titin-cap protein telethonin in cardiac myocytes. | 24 |
Citation
Dessen P
TCAP (titin-cap)
Atlas Genet Cytogenet Oncol Haematol. 2003-12-01
Online version: http://atlasgeneticsoncology.org/gene/42487/tcap
