Protein Summary
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
- ENST00000361471
- ENSP00000354464
- ENSG00000198947
- ENST00000378680
- ENSP00000367951
- ENST00000378702
- ENSP00000367974
- ENST00000378723
- ENSP00000367997
- BMD
- CMD3B
- MRX85
- DXS142
- DXS164
- DXS206
- DXS230
- DXS239
- DXS268
- DXS269
- DXS270
- DXS272
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
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: 3953.06 (req: < 5)
Gene RIFs: 265 (req: <= 3)
Antibodies: 486 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 3953.06 (req: >= 5)
Gene RIFs: 265 (req: > 3)
Antibodies: 486 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 32
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 Drugs: 4
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 (4)
Active Ligands (0)
Protein-Protein Interactions (258)
SNTG1
Novelty: 0.05608114
p_int: 0.999999999
p_ni: 1e-9
Score: 0.958
Data Source: BioPlex,STRINGDB
DTNA
Novelty: 0.01165754
p_int: 0.999999995
p_ni: 5e-9
Score: 0.738
Data Source: BioPlex,STRINGDB
CTNNAL1
Novelty: 0.03667606
p_int: 0.999999994
p_ni: 1e-9
p_wrong: 6e-9
Score: 0.789
Data Source: BioPlex,STRINGDB
SNTA1
Novelty: 0.01668288
p_int: 0.999999988
p_ni: 9e-9
p_wrong: 3e-9
Score: 0.982
Data Source: BioPlex,STRINGDB
SNTB1
Novelty: 0.05324344
p_int: 0.999999952
p_ni: 2e-9
p_wrong: 4.6e-8
Score: 0.987
Data Source: BioPlex,STRINGDB
DTNB
Novelty: 0.0586565
p_int: 0.999999787
p_ni: 2.11e-7
p_wrong: 2e-9
Score: 0.791
Data Source: BioPlex,STRINGDB
SNTB2
Novelty: 0.05469501
p_int: 0.999999746
p_ni: 2.51e-7
p_wrong: 3e-9
Score: 0.962
Data Source: BioPlex,STRINGDB
LONRF3
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
Nearest Tclin Targets
Pathways (12)
Reactome (4)
KEGG (4)
WikiPathways (4)
Click on a row in the table to change the structure displayed.
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 | ||||
Viral Interactions (0)
Gene Ontology Terms (50)
Functions (8)
Components (18)
Processes (24)
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 | |||
Disease Associations ()
GWAS Traits (3)
Items per page:
1 – 3 of 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 | 60.2 | ||||
body mass index | 1 | 1 | 1 | 24.5 | |||||
1 | 1 | 0 | 1.8 | 15.8 | |||||
Items per page:
1 – 3 of 3
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
---|---|---|---|---|---|---|---|
influenza A (H1N1) | 0 | 12.8 | 60.2 | ||||
body mass index | 1 | 24.5 | |||||
0 | 1.8 | 15.8 | |||||
Find similar targets by:
IDG Resources
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 | |||||
Publication Statistics
PubMed Score 3953.06
PubMed score by year
PubTator Score 3076.11
PubTator score by year
Related Publications
Text Mined References (414)
GeneRif Annotations (265)
Items per page:
0 of 0
PMID | Year | Title |
---|