Tclin DMD Dystrophin

Protein Summary

Description

Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]

Uniprot Accession IDs

• P11532
• E9PDN1
• Q02295
• Q14169
• Q14170
• Q5JYU0
• Q6NSJ9
• Q7KZ48
• Q8N754
• Q9UCW3
• Q9UCW4

Gene Name

• DMD

Ensembl ID

• ENST00000361471
• ENSP00000354464
• ENSG00000198947
• ENST00000378680
• ENSP00000367951
• ENST00000378702
• ENSP00000367974
• ENST00000378723
• ENSP00000367997

Symbol

• BMD
• CMD3B
• MRX85
• DXS142
• DXS164
• DXS206
• DXS230
• DXS239
• DXS268
• DXS269
• DXS270
• DXS272

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
protein domain	1
trait	1
biological term	0.99
co-expressed gene	0.96
biological process	0.95

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: 4148.07   (req: < 5)

Gene RIFs: 342   (req: <= 3)

Antibodies: 486   (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: 4148.07   (req: >= 5)

Gene RIFs: 342   (req: > 3)

Antibodies: 486   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 32

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 Drugs: 4