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Gene: DMD (dystrophin) Homo sapiens
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Symbol: DMD
Name: dystrophin
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; dystrophin (muscular dystrophy, Duchenne and Becker types); mental retardation, X-linked 85; MRX85
Orthologs:
Mus musculus (house mouse) : Dmd (dystrophin, muscular dystrophy)  MGI  Alliance
Rattus norvegicus (Norway rat) : Dmd (dystrophin)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Dmd (dystrophin)
Pan paniscus (bonobo/pygmy chimpanzee) : DMD (dystrophin)
Canis lupus familiaris (dog) : DMD (dystrophin)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Dmd (dystrophin)
Sus scrofa (pig) : DMD (dystrophin)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X31,119,219 - 33,339,609 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X31,137,345 - 33,357,726 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X31,047,266 - 33,267,647 (-)NCBINCBI36hg18NCBI36
Build 34X30,955,968 - 31,044,681NCBI
CeleraX35,264,860 - 37,484,992 (-)NCBI
Cytogenetic MapXp21.2-p21.1NCBI
HuRefX28,877,768 - 31,095,562 (-)NCBIHuRef
CHM1_1X31,168,731 - 33,388,091 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model