DMD (dystrophin)

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DMD (dystrophin)

Identity

Other names	BMD
	CMD3B
	DXS142
	DXS164
	DXS206
	DXS230
	DXS239
	DXS268
	DXS269
	DXS270
	DXS272
	MRX85
HGNC (Hugo)	DMD
LocusID (NCBI)	1756
Atlas_Id	46127
Location	Xp21.2 [Link to chromosome band Xp21]
Location_base_pair	Starts at 31137345 and ends at 33357726 bp from pter ( according to hg19-Feb_2009)

Fusion genes (updated 2016)	APBB2 (4p14) / DMD (Xp21.2)	C16orf52 (16p12.2) / DMD (Xp21.2)	CPNE1 (20q11.22) / DMD (Xp21.2)
	DMD (Xp21.2) / DDX46 (5q31.1)	DMD (Xp21.2) / DMD (Xp21.2)	DMD (Xp21.2) / LPP (3q28)
	DMD (Xp21.2) / TMEM165 (4q12)	IL1RAPL1 (Xp21.3) / DMD (Xp21.2)	LRP1B (2q22.1) / DMD (Xp21.2)
	RPLP1 (15q23) / DMD (Xp21.2)	SH3KBP1 (Xp22.12) / DMD (Xp21.2)	SSR1 (6p24.3) / DMD (Xp21.2)
	TAB3 (Xp21.2) / DMD (Xp21.2)	TADA2A (17q12) / DMD (Xp21.2)	TXNIP (1q21.1) / DMD (Xp21.2)
	VAPB (20q13.32) / DMD (Xp21.2)	APBB2 4p14 / DMD Xp21.2	CPNE1 20q11.22 / DMD Xp21.2
	SSR1 6p24.3 / DMD Xp21.2	TAB3 Xp21.2 / DMD Xp21.2

Note	Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, go to How to contribute

DNA/RNA

External links

	Nomenclature
HGNC (Hugo)	DMD 2928
	Cards
Entrez_Gene (NCBI)	DMD 1756 dystrophin
Aliases	BMD; CMD3B; DXS142; DXS164;
	DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
GeneCards (Weizmann)	DMD
Ensembl hg19 (Hinxton)	ENSG00000198947 [Gene_View] chrX:31137345-33357726 [Contig_View] DMD [Vega]
Ensembl hg38 (Hinxton)	ENSG00000198947 [Gene_View] chrX:31137345-33357726 [Contig_View] DMD [Vega]
ICGC DataPortal	ENSG00000198947
TCGA cBioPortal	DMD
AceView (NCBI)	DMD
Genatlas (Paris)	DMD
WikiGenes	1756
SOURCE (Princeton)	DMD
	Genomic and cartography
GoldenPath hg19 (UCSC)	DMD - chrX:31137345-33357726 - Xp21.2 [Description] (hg19-Feb_2009)
GoldenPath hg38 (UCSC)	DMD - Xp21.2 [Description] (hg38-Dec_2013)
Ensembl	DMD - Xp21.2 [CytoView hg19] DMD - Xp21.2 [CytoView hg38]
Mapping of homologs : NCBI	DMD [Mapview hg19] DMD [Mapview hg38]
OMIM	300376 300377 302045 310200
	Gene and transcription
Genbank (Entrez)	AB208836 AK129855 AK299936 AK309142 BC009242
RefSeq transcript (Entrez)	NM_000109 NM_004006 NM_004007 NM_004009 NM_004010 NM_004011 NM_004012 NM_004013 NM_004014 NM_004015 NM_004016 NM_004017 NM_004018 NM_004019 NM_004020 NM_004021 NM_004022 NM_004023
RefSeq genomic (Entrez)	NC_000023 NC_018934 NG_012232 NT_167197 NW_004929438
Consensus coding sequences : CCDS (NCBI)	DMD
Cluster EST : Unigene	Hs.495912 [ NCBI ]
CGAP (NCI)	Hs.495912
Alternative Splicing Gallery	ENSG00000198947
Gene Expression	DMD [ NCBI-GEO ] DMD [ EBI - ARRAY_EXPRESS ] DMD [ SEEK ] DMD [ MEM ]
Gene Expression Viewer (FireBrowse)	DMD [ Firebrowse - Broad ]
SOURCE (Princeton)	Expression in : [Datasets] [Normal Tissue Atlas] [carcinoma Classsification] [NCI60]
Genevisible	Expression in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	1756
GTEX Portal (Tissue expression)	DMD
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	P11532 (Uniprot)
NextProt	P11532 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	P11532
Splice isoforms : SwissVar	P11532 (Swissvar)
PhosPhoSitePlus	P11532
Domaine pattern : Prosite (Expaxy)	ACTININ_1 (PS00019) ACTININ_2 (PS00020) CH (PS50021) WW_DOMAIN_1 (PS01159) WW_DOMAIN_2 (PS50020) ZF_ZZ_1 (PS01357) ZF_ZZ_2 (PS50135)
Domains : Interpro (EBI)	Actinin_actin-bd_CS CH-domain Dystrophin EF-hand-dom_pair EF-hand_dom_typ1 EF-hand_dom_typ2 Spectrin/alpha-actinin Spectrin_repeat WW_dom Znf_ZZ
Domain families : Pfam (Sanger)	CH (PF00307) EF-hand_2 (PF09068) EF-hand_3 (PF09069) Spectrin (PF00435) WW (PF00397) ZZ (PF00569)
Domain families : Pfam (NCBI)	pfam00307 pfam09068 pfam09069 pfam00435 pfam00397 pfam00569
Domain families : Smart (EMBL)	CH (SM00033) SPEC (SM00150) WW (SM00456) ZnF_ZZ (SM00291)
DMDM Disease mutations	1756
Blocks (Seattle)	DMD
PDB (SRS)	1DXX 1EG3 1EG4 3UUN
PDB (PDBSum)	1DXX 1EG3 1EG4 3UUN
PDB (IMB)	1DXX 1EG3 1EG4 3UUN
PDB (RSDB)	1DXX 1EG3 1EG4 3UUN
Structural Biology KnowledgeBase	1DXX 1EG3 1EG4 3UUN
SCOP (Structural Classification of Proteins)	1DXX 1EG3 1EG4 3UUN
CATH (Classification of proteins structures)	1DXX 1EG3 1EG4 3UUN
Superfamily	P11532
Human Protein Atlas	ENSG00000198947
Peptide Atlas	P11532
HPRD	02303
IPI	IPI00006091 IPI00220577 IPI00304639 IPI00184813 IPI01009672 IPI00002386 IPI00969542 IPI00816143 IPI00954471 IPI00946706 IPI00375141 IPI00304638 IPI00376366 IPI00872706 IPI00419537 IPI00376375 IPI00335579 IPI00184337 IPI01014779 IPI00647179 IPI00472316 IPI00639906 IPI00334178 IPI00376367 IPI00376374 IPI01011069 IPI00945365 IPI00334618
	Protein Interaction databases
DIP (DOE-UCLA)	P11532
IntAct (EBI)	P11532
FunCoup	ENSG00000198947
BioGRID	DMD
STRING (EMBL)	DMD
ZODIAC	DMD
	Ontologies - Pathways
QuickGO	P11532
Ontology : AmiGO	regulation of heart rate dystroglycan binding actin binding actin binding structural constituent of cytoskeleton protein binding nucleus nucleus cytosol cytoskeleton plasma membrane muscle organ development zinc ion binding structural constituent of muscle structural constituent of muscle cell surface regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion positive regulation of neuron projection development regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion regulation of skeletal muscle contraction actin cytoskeleton dystrophin-associated glycoprotein complex dystrophin-associated glycoprotein complex dystrophin-associated glycoprotein complex syntrophin complex muscle attachment lateral plasma membrane myosin binding vinculin binding Z disc muscle filament sliding cell-substrate junction filopodium filopodium membrane negative regulation of peptidyl-serine phosphorylation cellular protein localization response to muscle stretch sarcolemma costamere peptide biosynthetic process protein complex cellular protein complex assembly neuron projection terminus motile cilium assembly membrane raft membrane raft synapse postsynaptic membrane positive regulation of neuron differentiation muscle cell cellular homeostasis muscle fiber development nitric-oxide synthase binding cardiac muscle contraction regulation of ryanodine-sensitive calcium-release channel activity cardiac muscle cell action potential regulation of cellular response to growth factor stimulus regulation of voltage-gated calcium channel activity negative regulation of peptidyl-cysteine S-nitrosylation positive regulation of sodium ion transmembrane transporter activity
Ontology : EGO-EBI	regulation of heart rate dystroglycan binding actin binding actin binding structural constituent of cytoskeleton protein binding nucleus nucleus cytosol cytoskeleton plasma membrane muscle organ development zinc ion binding structural constituent of muscle structural constituent of muscle cell surface regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion positive regulation of neuron projection development regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion regulation of skeletal muscle contraction actin cytoskeleton dystrophin-associated glycoprotein complex dystrophin-associated glycoprotein complex dystrophin-associated glycoprotein complex syntrophin complex muscle attachment lateral plasma membrane myosin binding vinculin binding Z disc muscle filament sliding cell-substrate junction filopodium filopodium membrane negative regulation of peptidyl-serine phosphorylation cellular protein localization response to muscle stretch sarcolemma costamere peptide biosynthetic process protein complex cellular protein complex assembly neuron projection terminus motile cilium assembly membrane raft membrane raft synapse postsynaptic membrane positive regulation of neuron differentiation muscle cell cellular homeostasis muscle fiber development nitric-oxide synthase binding cardiac muscle contraction regulation of ryanodine-sensitive calcium-release channel activity cardiac muscle cell action potential regulation of cellular response to growth factor stimulus regulation of voltage-gated calcium channel activity negative regulation of peptidyl-cysteine S-nitrosylation positive regulation of sodium ion transmembrane transporter activity
Pathways : BIOCARTA	Agrin in Postsynaptic Differentiation [Genes]
Pathways : KEGG	Hypertrophic cardiomyopathy (HCM) Arrhythmogenic right ventricular cardiomyopathy (ARVC) Dilated cardiomyopathy Viral myocarditis
NDEx Network	DMD
Atlas of Cancer Signalling Network	DMD
Wikipedia pathways	DMD
	Orthology - Evolution
OrthoDB	1756
GeneTree (enSembl)	ENSG00000198947
Phylogenetic Trees/Animal Genes : TreeFam	DMD
Homologs : HomoloGene	DMD
Homology/Alignments : Family Browser (UCSC)	DMD
	Gene fusions - Rearrangements
Fusion: TCGA	APBB2 4p14 DMD Xp21.2 BRCA
Fusion: TCGA	CPNE1 20q11.22 DMD Xp21.2 LUAD
Fusion: TCGA	SSR1 6p24.3 DMD Xp21.2 GBM
Fusion: TCGA	TAB3 Xp21.2 DMD Xp21.2 BRCA
	Polymorphisms : SNP, variants
NCBI Variation Viewer	DMD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	DMD
dbVar	DMD
ClinVar	DMD
1000_Genomes	DMD
Exome Variant Server	DMD
ExAC (Exome Aggregation Consortium)	DMD (select the gene name)
Genetic variants : HAPMAP	1756
Genomic Variants (DGV)	DMD [DGVbeta]
	Mutations
ICGC Data Portal	DMD
TCGA Data Portal	DMD
Broad Tumor Portal	DMD
OASIS Portal	DMD [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMIC	DMD
LOVD (Leiden Open Variation Database)	Whole genome datasets
LOVD (Leiden Open Variation Database)	LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)	Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)	LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)	MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMuta	search DMD
DgiDB (Drug Gene Interaction Database)	DMD
DoCM (Curated mutations)	DMD (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)	DMD (select a term)
intoGen	DMD
Impact of mutations	[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor]
	Diseases
DECIPHER (Syndromes)	X:31137345-33357726 ENSG00000198947
CONAN: Copy Number Analysis	DMD
Mutations and Diseases : HGMD	DMD
OMIM	300376 300377 302045 310200
Medgen	DMD
Genetic Testing Registry	DMD
NextProt	P11532 [Medical]
TSGene	1756
GENETests	DMD
Huge Navigator	DMD [HugePedia]
snp3D : Map Gene to Disease	1756
BioCentury BCIQ	DMD
ClinGen	DMD
	Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD	1756
Chemical/Pharm GKB Gene	PA27378
Clinical trial	DMD
	Miscellaneous
canSAR (ICR)	DMD (select the gene name)
	Probes
	Litterature
PubMed	381 Pubmed reference(s) in Entrez
GeneRIFs	Gene References Into Functions (Entrez)
CoreMine	DMD
EVEX	DMD
GoPubMed	DMD
iHOP	DMD

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

indexed on : Mon Sep 19 18:46:12 CEST 2016

Home Genes Leukemias Solid Tumours Cancer-Prone Deep Insight Case Reports Journals Portal Teaching

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jlhuret@AtlasGeneticsOncology.org.

Atlas of Genetics and Cytogenetics in Oncology and Haematology

DMD (dystrophin)

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, go to How to contribute

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to How to contribute