Protein Summary
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]
- ENST00000309889
- ENSP00000312624
- ENSG00000173991
- TELE
- CMD1N
- CMH25
- T-cap
- LGMD2G
- LGMDR7
- telethonin
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
IDG Development Level Summary
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: 169.4 (req: < 5)
Gene RIFs: 19 (req: <= 3)
Antibodies: 161 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 169.4 (req: >= 5)
Gene RIFs: 19 (req: > 3)
Antibodies: 161 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 26
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
Related Tools
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
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 is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
Active Ligands (0)
Protein-Protein Interactions (140)
CBX5
Family: Epigenetic
Novelty: 0.00653413
p_int: 0.999425984
p_ni: 0.000574016
Score: 0.189
Data Source: BioPlex,STRINGDB
CETN3
Novelty: 0.00705513
p_int: 0.985426821
p_ni: 0.014564392
p_wrong: 0.000008787
Score: 0.241
Data Source: BioPlex,STRINGDB
HSPA8
Novelty: 0.00081014
p_int: 0.979901265
p_ni: 0.020098735
Score: 0.161
Data Source: BioPlex,STRINGDB
STUB1
Family: Enzyme
Novelty: 0.00055102
p_int: 0.910884525
p_ni: 0.089115475
Score: 0.238
Data Source: BioPlex,STRINGDB
HSPA4
Novelty: 0.00009122
p_int: 0.883880053
p_ni: 0.116119947
Score: 0.197
Data Source: BioPlex,STRINGDB
Nearest Tclin Targets
Pathways (3)
Reactome (2)
WikiPathways (1)
Click on a row in the table to change the structure displayed.
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 | ||||
Viral Interactions (0)
Gene Ontology Terms (29)
Functions (7)
Components (3)
Processes (19)
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 | |||
Disease Associations ()
GWAS Traits (35)
Items per page:
1 – 5 of 35
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
high density lipoprotein cholesterol measurement | 10 | 9 | 18 | 98.1 | |||||
7 | 6 | 0 | 1.2 | 95.1 | |||||
alkaline phosphatase measurement | 2 | 2 | 1 | 11.6 | 93.4 | ||||
glomerular filtration rate | 2 | 2 | 2 | 82.8 | |||||
apolipoprotein A 1 measurement | 1 | 1 | 1 | 81.2 | |||||
Items per page:
1 – 5 of 35
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
high density lipoprotein cholesterol measurement | 18 | 98.1 | |||||
0 | 1.2 | 95.1 | |||||
alkaline phosphatase measurement | 1 | 11.6 | 93.4 | ||||
glomerular filtration rate | 2 | 82.8 | |||||
apolipoprotein A 1 measurement | 1 | 81.2 | |||||
Find similar targets by:
IDG Resources
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 | |||||
Publication Statistics
PubMed Score 169.40
PubMed score by year
PubTator Score 100.22
PubTator score by year
Related Publications
Text Mined References (52)
GeneRif Annotations (19)
Items per page:
0 of 0
PMID | Year | Title |
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