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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 t ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000361471
  • ENSP00000354464
  • ENSG00000198947
  • ENST00000378680
  • ENSP00000367951
  • ENST00000378702
  • ENSP00000367974
  • ENST00000378723
  • ENSP00000367997

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


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: 3884.6   (req: < 5)
Gene RIFs: 265   (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: 3884.6   (req: >= 5)
Gene RIFs: 265   (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: 2
Approved Drugs (2)
1 – 2 of 2
golodirsen
no chemical structure image available
eteplirsen
no chemical structure image available
GWAS Traits (3)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
influenza A (H1N1)
2
1
0
12.8
50.9
temporomandibular joint disorder
1
1
0
1.8
32.4
body mass index
1
1
1
21.6
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
influenza A (H1N1)
0
12.8
50.9
temporomandibular joint disorder
0
1.8
32.4
body mass index
1
21.6
Orthologs (9)
1 – 5 of 9
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Macaque
dystrophin-like
707966
Mouse
MGI:94909
13405
Rat
RGD:2507
24907
Dog
dystrophin
VGNC:54134
606758
Platypus
dystrophin
100075838
Species
Name
OMA
EggNOG
Inparanoid
Macaque
dystrophin-like
Mouse
Rat
Dog
dystrophin
Platypus
dystrophin
Protein Structure (4 Structures, 13 AlphaFold Models)
RepresentationColor Scheme

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

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 4 of 4
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 (12)
Extracellular matrix organization (R-HSA-1474244)

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

Items per page:
1 – 4 of 4
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Extracellular matrix organization
Reactome
Muscle contraction
Reactome
Non-integrin membrane-ECM interactions
Reactome
Striated Muscle Contraction
Name
Explore in Pharos
Explore in Source
Extracellular matrix organization
Muscle contraction
Non-integrin membrane-ECM interactions
Striated Muscle Contraction
Gene Ontology Terms (50)
Items per page:
10
1 – 8 of 8
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Physical Interaction (IPI)
UniProtKB
Inferred from Physical Interaction (IPI)
BHF-UCL
Inferred from Sequence or structural Similarity (ISS)
BHF-UCL
Traceable Author Statement (TAS)
ProtInc
Inferred from Electronic Annotation (IEA)
InterPro
Protein-Protein Interactions (258)
1 – 10 of 258
SNTG2
Tbio
Novelty: 0.04056715
p_int: 1
Score: 0.989
Data Source: BioPlex,STRINGDB
SNTG1
Tbio
Novelty: 0.05608114
p_int: 0.999999999
p_ni: 1e-9
Score: 0.958
Data Source: BioPlex,STRINGDB
DTNA
Tbio
Novelty: 0.01165754
p_int: 0.999999995
p_ni: 5e-9
Score: 0.738
Data Source: BioPlex,STRINGDB
CTNNAL1
Tbio
Novelty: 0.03667606
p_int: 0.999999994
p_ni: 1e-9
p_wrong: 6e-9
Score: 0.789
Data Source: BioPlex,STRINGDB
SNTA1
Tbio
Novelty: 0.01668288
p_int: 0.999999988
p_ni: 9e-9
p_wrong: 3e-9
Score: 0.982
Data Source: BioPlex,STRINGDB
SNTB1
Tbio
Novelty: 0.05324344
p_int: 0.999999952
p_ni: 2e-9
p_wrong: 4.6e-8
Score: 0.987
Data Source: BioPlex,STRINGDB
DTNB
Tbio
Novelty: 0.0586565
p_int: 0.999999787
p_ni: 2.11e-7
p_wrong: 2e-9
Score: 0.791
Data Source: BioPlex,STRINGDB
SNTB2
Tbio
Novelty: 0.05469501
p_int: 0.999999746
p_ni: 2.51e-7
p_wrong: 3e-9
Score: 0.962
Data Source: BioPlex,STRINGDB
LONRF3
Tdark
Family: Enzyme
Novelty: 1.01853217
p_int: 0.999980955
p_ni: 2.75e-7
p_wrong: 0.00001877
Score: 0.259
Data Source: BioPlex,STRINGDB
HAUS4
Tbio
Novelty: 0.91427982
p_int: 0.999967885
p_ni: 0.000032115
Data Source: BioPlex
Publication Statistics
PubMed Score  3884.60

PubMed score by year
PubTator Score  3076.11

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