DMD (dystrophin)

2007-02-01  

Identity

HGNC
LOCATION
Xp21.2
LOCUSID
ALIAS
BMD,CMD3B,DXS142,DXS164,DXS206,DXS230,DXS239,DXS268,DXS269,DXS270,DXS272,MRX85
FUSION GENES

Other Information

Locus ID:

NCBI: 1756
MIM: 300377
HGNC: 2928
Ensembl: ENSG00000198947

Variants:

dbSNP: 1756
ClinVar: 1756
TCGA: ENSG00000198947
COSMIC: DMD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198947ENST00000288447Q4G0X0
ENSG00000198947ENST00000357033A0A075B6G3
ENSG00000198947ENST00000358062H0Y304
ENSG00000198947ENST00000361471P11532
ENSG00000198947ENST00000378680P11532
ENSG00000198947ENST00000378680B4DSV7
ENSG00000198947ENST00000378702P11532
ENSG00000198947ENST00000378702A0A0S2Z3B5
ENSG00000198947ENST00000378705H0Y3E8
ENSG00000198947ENST00000378723P11532
ENSG00000198947ENST00000378723A0A0S2Z3J7
ENSG00000198947ENST00000420596Q14172
ENSG00000198947ENST00000447523Q14174
ENSG00000198947ENST00000448370A0A0B4J1W6
ENSG00000198947ENST00000471779A0A0C4DH61
ENSG00000198947ENST00000493412H0Y864
ENSG00000198947ENST00000619831A0A087WV90
ENSG00000198947ENST00000620040A0A087WTU7

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGhsa05412
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
Viral myocarditisKEGGhsa05416
Muscle contractionREACTOMER-HSA-397014
Striated Muscle ContractionREACTOMER-HSA-390522
Extracellular matrix organizationREACTOMER-HSA-1474244
Non-integrin membrane-ECM interactionsREACTOMER-HSA-3000171

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166163432eteplirsenChemicalLabelAnnotationassociated
PA166190721GolodirsenChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
119170912002Function and genetics of dystrophin and dystrophin-related proteins in muscle.313
146367782003Dystrophin and mutations: one gene, several proteins, multiple phenotypes.228
211641042011SAP97 and dystrophin macromolecular complexes determine two pools of cardiac sodium channels Nav1.5 in cardiomyocytes.106
162862492005Dystrophin glycoprotein complex dysfunction: a regulatory link between muscular dystrophy and cancer cachexia.101
199376012009Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.87
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
162469492005Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy.70
212128032011miR-31 modulates dystrophin expression: new implications for Duchenne muscular dystrophy therapy.64
178260932007Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human.61
172851392007Antisense oligonucleotide-induced exon skipping across the human dystrophin gene transcript.58

Citation

Dessen P

DMD (dystrophin)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46127/dmd