DMD (dystrophin)

Identity

Other names	BMD
	CMD3B
	DXS142
	DXS164
	DXS206
	DXS230
	DXS239
	DXS268
	DXS269
	DXS270
	DXS272
HGNC	DMD
Location	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	DMD   2928
Entrez_Gene	DMD  1756  dystrophin
	Cards
GeneCards	DMD
Ensembl	DMD [Search_View]   ENSG00000198947 [Gene_View]
Genatlas	DMD
GeneLynx	DMD
eGenome	DMD
euGene	1756
	Genomic and cartography
GoldenPath	DMD  -  Xp21.2   chrX:31047266-33267647 -  Xp21.2   [Description]    (hg18-March_2006)
Ensembl	DMD - Xp21.2 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	DMD
	Gene and transcription
Genbank	AB208836 [ ENTREZ ]
Genbank	AK129855 [ ENTREZ ]
Genbank	AK309142 [ ENTREZ ]
Genbank	BC009242 [ ENTREZ ]
Genbank	BC010932 [ ENTREZ ]
RefSeq	NM_000109 [ SRS ]    NM_000109 [ ENTREZ ]
RefSeq	NM_004006 [ SRS ]    NM_004006 [ ENTREZ ]
RefSeq	NM_004007 [ SRS ]    NM_004007 [ ENTREZ ]
RefSeq	NM_004009 [ SRS ]    NM_004009 [ ENTREZ ]
RefSeq	NM_004010 [ SRS ]    NM_004010 [ ENTREZ ]
RefSeq	NM_004011 [ SRS ]    NM_004011 [ ENTREZ ]
RefSeq	NM_004012 [ SRS ]    NM_004012 [ ENTREZ ]
RefSeq	NM_004013 [ SRS ]    NM_004013 [ ENTREZ ]
RefSeq	NM_004014 [ SRS ]    NM_004014 [ ENTREZ ]
RefSeq	NM_004015 [ SRS ]    NM_004015 [ ENTREZ ]
RefSeq	NM_004016 [ SRS ]    NM_004016 [ ENTREZ ]
RefSeq	NM_004017 [ SRS ]    NM_004017 [ ENTREZ ]
RefSeq	NM_004018 [ SRS ]    NM_004018 [ ENTREZ ]
RefSeq	NM_004019 [ SRS ]    NM_004019 [ ENTREZ ]
RefSeq	NM_004020 [ SRS ]    NM_004020 [ ENTREZ ]
RefSeq	NM_004021 [ SRS ]    NM_004021 [ ENTREZ ]
RefSeq	NM_004022 [ SRS ]    NM_004022 [ ENTREZ ]
RefSeq	NM_004023 [ SRS ]    NM_004023 [ ENTREZ ]
RefSeq	AC_000066 [ SRS ]    AC_000066 [ ENTREZ ]
RefSeq	AC_000155 [ SRS ]    AC_000155 [ ENTREZ ]
RefSeq	NC_000023 [ SRS ]    NC_000023 [ ENTREZ ]
RefSeq	NT_011757 [ SRS ]    NT_011757 [ ENTREZ ]
RefSeq	NW_001842360 [ SRS ]    NW_001842360 [ ENTREZ ]
RefSeq	NW_927700 [ SRS ]    NW_927700 [ ENTREZ ]
AceView	DMD AceView - NCBI
Unigene	Hs.495912 [ SRS ]    Hs.495912 [ NCBI ]     HS495912 [ spliceNest ]
Fast-db	5295 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	P11532 [ SRS]    P11532 [ EXPASY ]     P11532 [ INTERPRO ]     P11532 [ UNIPROT ]
Prosite	PS00019 ACTININ_1 [ SRS ]    PS00019 ACTININ_1 [ Expasy ]
Prosite	PS00020 ACTININ_2 [ SRS ]    PS00020 ACTININ_2 [ Expasy ]
Prosite	PS50021 CH [ SRS ]    PS50021 CH [ Expasy ]
Prosite	PS01159 WW_DOMAIN_1 [ SRS ]    PS01159 WW_DOMAIN_1 [ Expasy ]
Prosite	PS50020 WW_DOMAIN_2 [ SRS ]    PS50020 WW_DOMAIN_2 [ Expasy ]
Prosite	PS01357 ZF_ZZ_1 [ SRS ]    PS01357 ZF_ZZ_1 [ Expasy ]
Prosite	PS50135 ZF_ZZ_2 [ SRS ]    PS50135 ZF_ZZ_2 [ Expasy ]
Interpro	IPR001589 Actinin_actin-bd_CS [ SRS ]    IPR001589 Actinin_actin-bd_CS [ EBI ]
Interpro	IPR016146 Calponin-homology [ SRS ]    IPR016146 Calponin-homology [ EBI ]
Interpro	IPR001715 Calponin_act_bd [ SRS ]    IPR001715 Calponin_act_bd [ EBI ]
Interpro	IPR016344 Dystrophin/utrophin [ SRS ]    IPR016344 Dystrophin/utrophin [ EBI ]
Interpro	IPR015153 EF-hand_regn-1 [ SRS ]    IPR015153 EF-hand_regn-1 [ EBI ]
Interpro	IPR015154 EF-hand_regn-2 [ SRS ]    IPR015154 EF-hand_regn-2 [ EBI ]
Interpro	IPR011992 EF-Hand_type [ SRS ]    IPR011992 EF-Hand_type [ EBI ]
Interpro	IPR002017 Spectrin_repeat [ SRS ]    IPR002017 Spectrin_repeat [ EBI ]
Interpro	IPR001202 WW_Rsp5_WWP [ SRS ]    IPR001202 WW_Rsp5_WWP [ EBI ]
Interpro	IPR000433 Znf_ZZ [ SRS ]    IPR000433 Znf_ZZ [ EBI ]
CluSTr	P11532
Pfam	PF00307 CH [ SRS ]    PF00307 CH [ Sanger ]    pfam00307 [ NCBI-CDD ]
Pfam	PF09068 efhand_1 [ SRS ]    PF09068 efhand_1 [ Sanger ]    pfam09068 [ NCBI-CDD ]
Pfam	PF09069 efhand_2 [ SRS ]    PF09069 efhand_2 [ Sanger ]    pfam09069 [ NCBI-CDD ]
Pfam	PF00435 Spectrin [ SRS ]    PF00435 Spectrin [ Sanger ]    pfam00435 [ NCBI-CDD ]
Pfam	PF00397 WW [ SRS ]    PF00397 WW [ Sanger ]    pfam00397 [ NCBI-CDD ]
Pfam	PF00569 ZZ [ SRS ]    PF00569 ZZ [ Sanger ]    pfam00569 [ NCBI-CDD ]
Smart	SM00033 CH [EMBL]
Smart	SM00150 SPEC [EMBL]
Smart	SM00456 WW [EMBL]
Smart	SM00291 ZnF_ZZ [EMBL]
Blocks	P11532
PDB	1DXX [ SRS ]    1DXX [ PdbSum ],   1DXX [ IMB ]   1DXX [ RSDB ]
PDB	1EG3 [ SRS ]    1EG3 [ PdbSum ],   1EG3 [ IMB ]   1EG3 [ RSDB ]
PDB	1EG4 [ SRS ]    1EG4 [ PdbSum ],   1EG4 [ IMB ]   1EG4 [ RSDB ]
HPRD	02303
	Protein Interaction databases
DIP	P11532
IntAct	P11532
	Polymorphism : SNP, mutations, diseases
OMIM	300376;300377;302045;310200    [ map ]
GENECLINICS	300376;300377;302045;310200
SNP	DMD [dbSNP-NCBI]
SNP	NM_000109 [SNP-NCI]
SNP	NM_004006 [SNP-NCI]
SNP	NM_004007 [SNP-NCI]
SNP	NM_004009 [SNP-NCI]
SNP	NM_004010 [SNP-NCI]
SNP	NM_004011 [SNP-NCI]
SNP	NM_004012 [SNP-NCI]
SNP	NM_004013 [SNP-NCI]
SNP	NM_004014 [SNP-NCI]
SNP	NM_004015 [SNP-NCI]
SNP	NM_004016 [SNP-NCI]
SNP	NM_004017 [SNP-NCI]
SNP	NM_004018 [SNP-NCI]
SNP	NM_004019 [SNP-NCI]
SNP	NM_004020 [SNP-NCI]
SNP	NM_004021 [SNP-NCI]
SNP	NM_004022 [SNP-NCI]
SNP	NM_004023 [SNP-NCI]
SNP	DMD [GeneSNPs - Utah]  DMD] [HGBASE - SRS]
HAPMAP	DMD [HAPMAP]
COSMIC	DMD [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	DMD
	General knowledge
Family Browser	DMD [UCSC Family Browser]
SOURCE	NM_000109
SOURCE	NM_004006
SOURCE	NM_004007
SOURCE	NM_004009
SOURCE	NM_004010
SOURCE	NM_004011
SOURCE	NM_004012
SOURCE	NM_004013
SOURCE	NM_004014
SOURCE	NM_004015
SOURCE	NM_004016
SOURCE	NM_004017
SOURCE	NM_004018
SOURCE	NM_004019
SOURCE	NM_004020
SOURCE	NM_004021
SOURCE	NM_004022
SOURCE	NM_004023
SMD	Hs.495912
SAGE	Hs.495912
GO	actin binding [Amigo]  actin binding
GO	actin binding [Amigo]  actin binding
GO	actin binding [Amigo]  actin binding
GO	structural constituent of cytoskeleton [Amigo]  structural constituent of cytoskeleton
GO	calcium ion binding [Amigo]  calcium ion binding
GO	protein binding [Amigo]  protein binding
GO	protein binding [Amigo]  protein binding
GO	cytoplasm [Amigo]  cytoplasm
GO	cytoskeleton [Amigo]  cytoskeleton
GO	cytoskeletal anchoring at plasma membrane [Amigo]  cytoskeletal anchoring at plasma membrane
GO	cytoskeletal anchoring at plasma membrane [Amigo]  cytoskeletal anchoring at plasma membrane
GO	muscle development [Amigo]  muscle development
GO	zinc ion binding [Amigo]  zinc ion binding
GO	structural constituent of muscle [Amigo]  structural constituent of muscle
GO	structural constituent of muscle [Amigo]  structural constituent of muscle
GO	cell surface [Amigo]  cell surface
GO	dystrophin-associated glycoprotein complex [Amigo]  dystrophin-associated glycoprotein complex
GO	dystrophin-associated glycoprotein complex [Amigo]  dystrophin-associated glycoprotein complex
GO	dystrophin-associated glycoprotein complex [Amigo]  dystrophin-associated glycoprotein complex
GO	membrane [Amigo]  membrane
GO	costamere [Amigo]  costamere
GO	peptide biosynthetic process [Amigo]  peptide biosynthetic process
BIOCARTA	Agrin in Postsynaptic Differentiation    [Genes]
PubGene	DMD
TreeFam	DMD
CTD	1756 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	DMD Related clones (RZPD - Berlin)
	PubMed
PubMed	208 Pubmed reference(s) in LocusLink

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	03-2008	Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Aug 11 20:08:11 2008