Atlas of Genetics and Cytogenetics in Oncology and Haematology

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DMD (dystrophin)

Identity

Other namesBMD
CMD3B
DXS142
DXS164
DXS206
DXS230
DXS239
DXS268
DXS269
DXS270
DXS272
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 (Hinxton)ENSG00000198947 [Gene_View]  chrX:31137345-33357726 [Contig_View]  DMD [Vega]
ICGC DataPortalENSG00000198947
cBioPortalDMD
AceView (NCBI)DMD
Genatlas (Paris)DMD
WikiGenes1756
SOURCE (Princeton)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
Genomic and cartography
GoldenPath (UCSC)DMD  -  Xp21.2   chrX:31137345-33357726 -  Xp21.2   [Description]    (hg19-Feb_2009)
EnsemblDMD - Xp21.2 [CytoView]
Mapping of homologs : NCBIDMD [Mapview]
OMIM300376   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 : UnigeneHs.495912 [ NCBI ]
CGAP (NCI)Hs.495912
Alternative Splicing : Fast-db (Paris)GSHG0032030
Alternative Splicing GalleryENSG00000198947
Gene ExpressionDMD [ NCBI-GEO ]     DMD [ SEEK ]   DMD [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP11532 (Uniprot)
NextProtP11532  [Medical]
With graphics : InterProP11532
Splice isoforms : SwissVarP11532 (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 [organisation]   CH-domain [organisation]   Dystrophin/utrophin [organisation]   EF-hand-dom_pair [organisation]   EF-hand_dom_typ1 [organisation]   EF-hand_dom_typ2 [organisation]   Spectrin/alpha-actinin [organisation]   Spectrin_repeat [organisation]   WW_dom [organisation]   Znf_ZZ [organisation]  
Related proteins : CluSTrP11532
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 mutations1756
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 AtlasENSG00000198947 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP11532
HPRD02303
IPIIPI00006091   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
FunCoupENSG00000198947
BioGRIDDMD
InParanoidP11532
Interologous Interaction database P11532
IntegromeDBDMD
STRING (EMBL)DMD
Ontologies - Pathways
Ontology : AmiGOpositive regulation of cell-matrix adhesion  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  plasma membrane  regulation of transcription, DNA-dependent  muscle organ development  skeletal muscle tissue development  establishment of blood-nerve barrier  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  myotube cell development  actin cytoskeleton  dystrophin-associated glycoprotein complex  dystrophin-associated glycoprotein complex  dystrophin-associated glycoprotein complex  syntrophin complex  lateral plasma membrane  myosin binding  vinculin binding  olfactory nerve structural organization  Z disc  muscle filament sliding  cell-substrate junction  filopodium  extracellular matrix organization  negative regulation of peptidyl-serine phosphorylation  cellular protein localization  sarcolemma  costamere  peptide biosynthetic process  protein complex  cellular protein complex assembly  neuron projection terminus  motile cilium assembly  membrane raft  membrane raft  postsynaptic membrane  neurotransmitter receptor metabolic process  positive regulation of neuron differentiation  muscle cell cellular homeostasis  muscle fiber development  nitric-oxide synthase binding  nucleus localization  cardiac muscle contraction  regulation of ryanodine-sensitive calcium-release channel activity  establishment of glial blood-brain barrier  regulation of 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-EBIpositive regulation of cell-matrix adhesion  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  plasma membrane  regulation of transcription, DNA-dependent  muscle organ development  skeletal muscle tissue development  establishment of blood-nerve barrier  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  myotube cell development  actin cytoskeleton  dystrophin-associated glycoprotein complex  dystrophin-associated glycoprotein complex  dystrophin-associated glycoprotein complex  syntrophin complex  lateral plasma membrane  myosin binding  vinculin binding  olfactory nerve structural organization  Z disc  muscle filament sliding  cell-substrate junction  filopodium  extracellular matrix organization  negative regulation of peptidyl-serine phosphorylation  cellular protein localization  sarcolemma  costamere  peptide biosynthetic process  protein complex  cellular protein complex assembly  neuron projection terminus  motile cilium assembly  membrane raft  membrane raft  postsynaptic membrane  neurotransmitter receptor metabolic process  positive regulation of neuron differentiation  muscle cell cellular homeostasis  muscle fiber development  nitric-oxide synthase binding  nucleus localization  cardiac muscle contraction  regulation of ryanodine-sensitive calcium-release channel activity  establishment of glial blood-brain barrier  regulation of 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 : BIOCARTAAgrin in Postsynaptic Differentiation [Genes]   
Pathways : KEGGHypertrophic cardiomyopathy (HCM)    Arrhythmogenic right ventricular cardiomyopathy (ARVC)    Dilated cardiomyopathy    Viral myocarditis   
Protein Interaction DatabaseDMD
Wikipedia pathwaysDMD
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)DMD
snp3D : Map Gene to Disease1756
SNP (GeneSNP Utah)DMD
SNP : HGBaseDMD
Genetic variants : HAPMAPDMD
Exome VariantDMD
1000_GenomesDMD 
ICGC programENSG00000198947 
Somatic Mutations in Cancer : COSMICDMD 
CONAN: Copy Number AnalysisDMD 
Mutations and Diseases : HGMDDMD
Genomic VariantsDMD  DMD [DGVbeta]
dbVarDMD
ClinVarDMD
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM300376    300377    302045    310200   
MedgenDMD
GENETestsDMD
Disease Genetic AssociationDMD
Huge Navigator DMD [HugePedia]  DMD [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneDMD
Homology/Alignments : Family Browser (UCSC)DMD
Phylogenetic Trees/Animal Genes : TreeFamDMD
Chemical/Protein Interactions : CTD1756
Chemical/Pharm GKB GenePA27378
Clinical trialDMD
Cancer Resource (Charite)ENSG00000198947
Other databases
Probes
Litterature
PubMed339 Pubmed reference(s) in Entrez
CoreMineDMD
iHOPDMD
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 11 16:53:04 CEST 2014
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