DMD (dystrophin)

2007-02-01  

Identity

HGNC
DMD
LOCATION
Xp21.2
LOCUSID
1756
ALIAS
BMD,CMD3B,DXS142,DXS164,DXS206,DXS230,DXS239,DXS268,DXS269,DXS270,DXS272,MRX85
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166163432eteplirsenChemicalLabelAnnotationassociated
PA166190721GolodirsenChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
379293302024Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes.1
379684312024Cognitive abnormalities in Becker muscular dystrophy: a mysterious link between dystrophin deficiency and executive functions.0
382648152024[Analysis of DMD gene variants in a single center].0
384385612024Cell-mediated exon skipping normalizes dystrophin expression and muscle function in a new mouse model of Duchenne Muscular Dystrophy.0
384849642024The unconditioned fear response in vertebrates deficient in dystrophin.0
384862382024Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies.0
385041542024Comprehensive analysis of genomic complexity in the 5' end coding region of the DMD gene in patients of exons 1-2 duplications based on long-read sequencing.0
385124992024The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiation.0
385171162024Quantitative ultrasonography reveals skeletal muscle abnormalities in carriers of DMD pathogenic variants.0
386219932024Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism.1
386531792024Long-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD gene.0
379293302024Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes.1
379684312024Cognitive abnormalities in Becker muscular dystrophy: a mysterious link between dystrophin deficiency and executive functions.0
382648152024[Analysis of DMD gene variants in a single center].0
384385612024Cell-mediated exon skipping normalizes dystrophin expression and muscle function in a new mouse model of Duchenne Muscular Dystrophy.0

Citation

Dessen P

DMD (dystrophin)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

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