Tbio TCAP Telethonin

Protein Summary

Description

Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the sarcomeric Z-disk. Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq, Jul 2008]

Uniprot Accession IDs

• O15273
• Q96L27

Gene Name

• TCAP

Ensembl ID

• ENST00000309889
• ENSP00000312624
• ENSG00000173991

Symbol

• TELE
• CMD1N
• CMH25
• T-cap
• LGMD2G
• LGMDR7
• telethonin

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	0.66
tissue sample	0.64
kinase	0.56
PubMedID	0.56
gene perturbation	0.53

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 212.37   (req: < 5)

Gene RIFs: 19   (req: <= 3)

Antibodies: 161   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 212.37   (req: >= 5)

Gene RIFs: 19   (req: > 3)

Antibodies: 161   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 26

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0