DMD (dystrophin)

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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
Donations are also welcome

DMD (dystrophin)

Identity

Other names	BMD
	CMD3B
	DXS142
	DXS164
	DXS206
	DXS230
	DXS239
	DXS268
	DXS269
	DXS270
	DXS272
	MRX85
HGNC (Hugo)	DMD
LocusID (NCBI)	1756
Location	Xp21.2
Location_base_pair	Starts at 31137345 and ends at 33357726 bp from pter ( according to hg19-Feb_2009)
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
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
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)	AC_000155 NC_000023 NC_018934 NG_012232 NT_167197 NW_001842360 NW_004929438
Consensus coding sequences : CCDS (NCBI)	DMD
Cluster EST : Unigene	Hs.495912 [ NCBI ]
CGAP (NCI)	Hs.495912
Alternative Splicing : Fast-db (Paris)	GSHG0032030
Alternative Splicing Gallery	ENSG00000198947
Gene Expression	DMD [ NCBI-GEO ] DMD [ SEEK ] DMD [ MEM ]
SOURCE (Princeton)	Expression in : [Normal Tissue Atlas] [carcinoma Classsification] [NCI60]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	P11532 (Uniprot)
NextProt	P11532 [Medical]
With graphics : InterPro	P11532
Splice isoforms : SwissVar	P11532 (Swissvar)
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/utrophin EF-hand-dom_pair EF-hand_dom_typ1 EF-hand_dom_typ2 Spectrin/alpha-actinin Spectrin_repeat WW_dom Znf_ZZ
Related proteins : CluSTr	P11532
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)	P11532
PDB (SRS)	1DXX 1EG3 1EG4 3UUN
PDB (PDBSum)	1DXX 1EG3 1EG4 3UUN
PDB (IMB)	1DXX 1EG3 1EG4 3UUN
PDB (RSDB)	1DXX 1EG3 1EG4 3UUN
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
IntegromeDB	DMD
STRING (EMBL)	DMD
	Ontologies - Pathways
QuickGO	P11532
Ontology : AmiGO	regulation of heart rate dystroglycan binding actin binding actin binding structural constituent of cytoskeleton calcium ion binding 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 lateral plasma membrane myosin binding vinculin binding muscle filament sliding cell junction filopodium extracellular matrix organization filopodium membrane negative regulation of peptidyl-serine phosphorylation cellular protein localization sarcolemma costamere peptide biosynthetic process protein complex cellular protein complex assembly motile cilium assembly membrane raft postsynaptic membrane positive regulation of neuron differentiation 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 calcium ion binding 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 lateral plasma membrane myosin binding vinculin binding muscle filament sliding cell junction filopodium extracellular matrix organization filopodium membrane negative regulation of peptidyl-serine phosphorylation cellular protein localization sarcolemma costamere peptide biosynthetic process protein complex cellular protein complex assembly motile cilium assembly membrane raft postsynaptic membrane positive regulation of neuron differentiation 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
Protein Interaction Database	DMD
DoCM (Curated mutations)	DMD
Wikipedia pathways	DMD
	Gene fusion - rearrangements
	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
SNP (GeneSNP Utah)	DMD
SNP : HGBase	DMD
Genetic variants : HAPMAP	DMD
Genomic Variants (DGV)	DMD [DGVbeta]
	Mutations
ICGC Data Portal	ENSG00000198947
Somatic Mutations in Cancer : COSMIC	DMD
CONAN: Copy Number Analysis	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
Impact of mutations	[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor]
	Diseases
DECIPHER (Syndromes)	X:31137345-33357726
Mutations and Diseases : HGMD	DMD
OMIM	300376 300377 302045 310200
Medgen	DMD
NextProt	P11532 [Medical]
GENETests	DMD
Disease Genetic Association	DMD
Huge Navigator	DMD [HugePedia] DMD [HugeCancerGEM]
snp3D : Map Gene to Disease	1756
DGIdb (Drug Gene Interaction db)	DMD
	General knowledge
Homologs : HomoloGene	DMD
Homology/Alignments : Family Browser (UCSC)	DMD
Phylogenetic Trees/Animal Genes : TreeFam	DMD
Chemical/Protein Interactions : CTD	1756
Chemical/Pharm GKB Gene	PA27378
Clinical trial	DMD
Cancer Resource (Charite)	ENSG00000198947
	Other databases
	Probes
	Litterature
PubMed	349 Pubmed reference(s) in Entrez
CoreMine	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

Contributor(s)

Written	09-2002	Dessen P, Le Minor S

Updated	12-2014	Dessen P

indexed on : Sat Feb 14 15:29:36 CET 2015

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

For comments and suggestions or contributions, please contact us

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