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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
Gene Name
Ensembl ID
  • ENST00000309889
  • ENSP00000312624
  • ENSG00000173991

Symbol
  • TELE
  • CMD1N
  • CMH25
  • T-cap
  • LGMD2G
  • LGMDR7
  • telethonin
Illumination Graph
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


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
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: 162.72   (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: 162.72   (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
GWAS Traits (1)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
alcohol consumption measurement
1
1
1
39
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
alcohol consumption measurement
1
39
Orthologs (10)
1 – 5 of 10
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
titin-cap
VGNC:9682
454633
Macaque
StAR related lipid transfer domain containing 3
697212
Mouse
MGI:1330233
21393
Dog
titin-cap
VGNC:47181
608508
Horse
titin-cap
VGNC:23941
100054828
Species
Name
OMA
EggNOG
Inparanoid
Chimp
titin-cap
Macaque
StAR related lipid transfer domain containing 3
Mouse
Dog
titin-cap
Horse
titin-cap
Protein Structure (2 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-O15273-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 2 of 2
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (3)
Muscle contraction (R-HSA-397014)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 2 of 2
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Muscle contraction
Reactome
Striated Muscle Contraction
Name
Explore in Pharos
Explore in Source
Muscle contraction
Striated Muscle Contraction
Gene Ontology Terms (29)
Items per page:
10
1 – 7 of 7
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Physical Interaction (IPI)
BHF-UCL
Inferred from Physical Interaction (IPI)
BHF-UCL
Inferred from Physical Interaction (IPI)
BHF-UCL
Inferred from Physical Interaction (IPI)
BHF-UCL
Inferred from Physical Interaction (IPI)
BHF-UCL
Inferred from Mutant Phenotype (IMP)
BHF-UCL
Protein-Protein Interactions (140)
1 – 10 of 140
CBX5
Tbio
Family: Epigenetic
Novelty: 0.00653413
p_int: 0.999425984
p_ni: 0.000574016
Score: 0.189
Data Source: BioPlex,STRINGDB
CETN3
Tbio
Novelty: 0.00705513
p_int: 0.985426821
p_ni: 0.014564392
p_wrong: 0.000008787
Score: 0.241
Data Source: BioPlex,STRINGDB
HSPA8
Tchem
Novelty: 0.00081014
p_int: 0.979901265
p_ni: 0.020098735
Score: 0.161
Data Source: BioPlex,STRINGDB
STUB1
Tbio
Family: Enzyme
Novelty: 0.00055102
p_int: 0.910884525
p_ni: 0.089115475
Score: 0.238
Data Source: BioPlex,STRINGDB
HSPA4
Tbio
Novelty: 0.00009122
p_int: 0.883880053
p_ni: 0.116119947
Score: 0.197
Data Source: BioPlex,STRINGDB
TTN
Tbio
Family: Kinase
Novelty: 0.00040356
Score: 0.998
Data Source: STRINGDB
MYBPC3
Tbio
Novelty: 0.00297478
Score: 0.97
Data Source: STRINGDB
ACTN2
Tbio
Novelty: 0.00615882
Score: 0.969
Data Source: STRINGDB
TNNT2
Tbio
Novelty: 0.00044568
Score: 0.968
Data Source: STRINGDB
MYH6
Tbio
Novelty: 0.00058671
Score: 0.968
Data Source: STRINGDB
Publication Statistics
PubMed Score  162.72

PubMed score by year
PubTator Score  100.22

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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