Dmd - dystrophin Gene

Rattus norvegicus

Also known as DNADMD1

Gene ID: 24907 | Gene type: protein coding

About Dmd

Summary

Enables several functions, including PDZ domain binding activity; Integrin binding activity; and lamin binding activity. Involved in several processes, including nervous system development; regulation of neuron differentiation; and response to denervation involved in regulation of muscle adaptation. Located in several cellular components, including mitochondrial membrane; neurofilament; and secretory vesicle. Part of dystrophin-associated glycoprotein complex. Used to study Duchenne muscular dystrophy; brain edema; and dilated cardiomyopathy. Biomarker of muscular atrophy; retinal degeneration; and status epilepticus. Human ortholog(s) of this gene implicated in cognitive disorder; dilated cardiomyopathy (multiple); intellectual disability; and muscular dystrophy (multiple). Orthologous to human DMD (Dystrophin). [provided by Alliance of Genome Resources, Apr 2022]

Dmd Products(4)

mRNA	Protein	Name
NM_001005244.2	NP_001005244.1	dystrophin isoform Dp71ab
NM_001005246.1	NP_001005246.1	dystrophin isoform Dp71c
NM_001370876.1	NP_001357805.1	dystrophin isoform 1
NM_012698.3	NP_036830.2	dystrophin isoform Dp71a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables PDZ domain binding	IPI IPI: Inferred from physical interaction	15024025	RGD
enables actin binding	IDA IDA: Inferred from direct assay	10984432	RGD
enables integrin binding	IPI IPI: Inferred from physical interaction	18677563	RGD
enables lamin binding	IPI IPI: Inferred from physical interaction	21886794	RGD
enables protein binding	IPI IPI: Inferred from physical interaction	10545507	RGD
enables protein-containing complex binding	IPI IPI: Inferred from physical interaction	15247274	RGD

Biological Process GO Annotation	Evidence	Reference	Source
involved in cell differentiation	IEP IEP: Inferred from expression pattern	22008482	RGD
involved in cerebral cortex development	IEP IEP: Inferred from expression pattern	1454857	RGD
involved in muscle cell differentiation	IEP IEP: Inferred from expression pattern	19903098	RGD
involved in negative regulation of neuron differentiation	IMP IMP: Inferred from mutant phenotype	21668890	RGD
involved in neuron differentiation	IEP IEP: Inferred from expression pattern	8858620	RGD
involved in neuron projection morphogenesis	IMP IMP: Inferred from mutant phenotype	15706226	RGD
involved in positive regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	21886794	RGD
involved in positive regulation of neuron differentiation	IMP IMP: Inferred from mutant phenotype	15149856	RGD
involved in positive regulation of neuron projection development	IMP IMP: Inferred from mutant phenotype	15149856	RGD
involved in regulation of cellular response to growth factor stimulus	IMP IMP: Inferred from mutant phenotype	15149856	RGD
involved in response to denervation involved in regulation of muscle adaptation	IEP IEP: Inferred from expression pattern	8906620	RGD
involved in skeletal muscle tissue regeneration	IEP IEP: Inferred from expression pattern	12086334	RGD

Cellular Component GO Annotation	Evidence	Reference	Source
located in astrocyte projection	IDA IDA: Inferred from direct assay	10411999	RGD
located in axon	IDA IDA: Inferred from direct assay	9858364	RGD
located in cell projection	IDA IDA: Inferred from direct assay	11368101	RGD
part of dystrophin-associated glycoprotein complex	IDA IDA: Inferred from direct assay	15247274	RGD
located in lamellipodium	IDA IDA: Inferred from direct assay	11368101	RGD
located in matrix side of mitochondrial inner membrane	IDA IDA: Inferred from direct assay	10913331	RGD
located in mitochondrial outer membrane	IDA IDA: Inferred from direct assay	10411999	RGD
located in myofibril	IDA IDA: Inferred from direct assay	12890920	RGD
located in neurofilament	IDA IDA: Inferred from direct assay	11326752	RGD
located in neuronal cell body	IDA IDA: Inferred from direct assay	10359335	RGD
located in nucleus	IDA IDA: Inferred from direct assay	15149856	RGD
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	11368101	RGD
located in postsynaptic density	IDA IDA: Inferred from direct assay	10545507	RGD
located in ribosome	IDA IDA: Inferred from direct assay	10411999	RGD
located in sarcolemma	IDA IDA: Inferred from direct assay	12037582	RGD
located in secretory granule	IDA IDA: Inferred from direct assay	9858364	RGD
located in synaptic vesicle membrane	IDA IDA: Inferred from direct assay	1454857	RGD

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

dystrophin

apodystrophin-3	apodystrophin-I
dystrophin, muscular dystrophy	dystrophin-related

Related Agents

Approval

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-14842	Givinostat	Inhibitor	98.67%	Yes
HY-108753	Eteplirsen		98.50%	Unkown
HY-132611	Golodirsen	Modulator	92.00%	Unkown
HY-132584	Casimersen	Modulator	91.57%	Unkown
HY-132586	Viltolarsen	Modulator	92.75%	Unkown

Clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Phase
HY-132586A	Viltolarsen sodium	Modulator	95.25%	Phase 4
HY-132584A	Casimersen sodium	Inhibitor	99.07%	Phase 3
HY-145724	Drisapersen	Inhibitor	96.05%	Phase 3
HY-134377	Bocidelpar	Modulator	98.08%	Phase 2
HY-17614	Ezutromid		98.87%	Phase 2
HY-127137	Adenylosuccinic acid		≥95.0%	Phase 1

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P99857	Domagrozumab	Inhibitor	96.34%	Phase 2

Pre-clinical Phase

Bioactive Molecules (17)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-152182	ML-SA5	Agonist	99.57%	Unkown
HY-147332	TCL053		99.92%	Unkown
HY-15898	Y-320		99.03%	Unkown
HY-101459	RTC13		99.31%	Unkown
HY-127137A	Adenylosuccinic acid tetraammonium		99.62%	Unkown
HY-122631	TG693		99.95%	Unkown
HY-114739	MA-0204	Modulator	99.31%	Unkown
HY-139972	PROTAC(H-PGDS)-7		99.42%	Unkown
HY-153369	BAY-747	Activator	/	Unkown
HY-150237	FITC-labeled Drisapersen sodium	Inhibitor	92.99%	Unkown
HY-133754	MI-1063	MDM2 Inhibitor	/	Unkown
HY-14931	Naproxcinod	Inhibitor	/	Unkown
HY-150077	Utrophin modulator 1		/	Unkown
HY-150078	OX01914		/	Unkown
HY-RS03823	DMD Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS18019	Dmd Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS24492	Dmd Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Dmd	NCBI	NCBI:1756

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