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: 3953.06   (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: 3953.06   (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: 4

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Show Full Sequence

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Expression Data (0 Tissues)

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No expression data found

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.

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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.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (4)

Explore Approved Drugs

1 – 4 of 4

golodirsen

DMDTclin

ANTISENSE INHIBITOR :

eteplirsen

DMDTclin

BINDING AGENT :

viltolarsen

DMDTclin

BINDING AGENT pEC50 : 8.33

casimersen

DMDTclin

ANTISENSE INHIBITOR :

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (258)

Explore Interacting Targets

1 – 10 of 258

• See Interactions on String-DB

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

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (12)

Reactome (4)

KEGG (4)

WikiPathways (4)

Extracellular matrix organization (R-HSA-1474244)

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1 – 4 of 4

Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Extracellular matrix organization	297 targets	R-HSA-1474244
Reactome	Muscle contraction	202 targets	R-HSA-397014
Reactome	Non-integrin membrane-ECM interactions	43 targets	R-HSA-3000171
Reactome	Striated Muscle Contraction	34 targets	R-HSA-390522

Name	Explore in Pharos	Explore in Source
Extracellular matrix organization	297 targets	R-HSA-1474244
Muscle contraction	202 targets	R-HSA-397014
Non-integrin membrane-ECM interactions	43 targets	R-HSA-3000171
Striated Muscle Contraction	34 targets	R-HSA-390522

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (50)

Functions (8)

Components (18)

Processes (24)

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1 – 8 of 8

GO Term	Evidence	Assigned by
actin binding	Inferred from Direct Assay (IDA)	BHF-UCL
myosin binding	Inferred from Direct Assay (IDA)	BHF-UCL
structural constituent of muscle	Inferred from Direct Assay (IDA)	UniProtKB
dystroglycan binding	Inferred from Physical Interaction (IPI)	UniProtKB
vinculin binding	Inferred from Physical Interaction (IPI)	BHF-UCL
nitric-oxide synthase binding	Inferred from Sequence or structural Similarity (ISS)	BHF-UCL
structural constituent of cytoskeleton	Traceable Author Statement (TAS)	ProtInc
zinc ion binding	Inferred from Electronic Annotation (IEA)	InterPro

Disease Associations ()

No disease associations found

GWAS Traits (3)

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5

1 – 3 of 3

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
influenza A (H1N1)	EFO_1001488	2	1	0	12.8	60.2
body mass index	EFO_0004340	1	1	1		24.5
temporomandibular joint disorder	EFO_0005279	1	1	0	1.8	15.8

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 3 of 3

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
influenza A (H1N1)	EFO_1001488	0	12.8	60.2
body mass index	EFO_0004340	1		24.5
temporomandibular joint disorder	EFO_0005279	0	1.8	15.8

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Actin-binding
Alternative splicing
Calcium
Cardiomyopathy
Cell junction
Cell membrane
Complete proteome
Cytoplasm
Cytoskeleton

GWAS Trait Find Similar Targets

No Header	No Header
body mass index
influenza A (H1N1)
temporomandibular joint disorder

MGI Phenotype Find Similar Targets

No Header	No Header
adipose tissue phenotype
behavior/neurological phenotype
cardiovascular system phenotype
cellular phenotype
digestive/alimentary phenotype
endocrine/exocrine gland phenotype
growth/size/body region phenotype
hearing/vestibular/ear phenotype
homeostasis/metabolism phenotype
immune system phenotype

IDG Resources

No IDG generated resources found

Orthologs (9)

1 – 5 of 9

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Macaque	dystrophin-like		707966
Mouse	dystrophin, muscular dystrophy	MGI:94909	13405
Rat	dystrophin	RGD:2507	24907
Dog	dystrophin	VGNC:54134	606758
Platypus	dystrophin		100075838

Species	Name	OMA	EggNOG	Inparanoid
Macaque	dystrophin-like
Mouse	dystrophin, muscular dystrophy
Rat	dystrophin
Dog	dystrophin
Platypus	dystrophin

Publication Statistics

PubMed Score 3953.06

PubMed score by year

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PubTator Score 3076.11

PubTator score by year

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Related Publications

Text Mined References (414)

GeneRif Annotations (265)

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10

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PMID	Year	Title