full name
dystrophin

synonyms
BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, DMD, ENSG00000198947

HGNC
HGNC:2928

Entrez Gene
Gene:1756

ENSEMBL
ENSG00000198947

location
chr: X
start: 31137345
stop: 33357726
strand: -

OMIM
OMIM:300377: DMD (X-linked recessive inheritance)
OMIM:300376: Becker muscular dystrophy
OMIM:302045: Cardiomyopathy, dilated, 3B
OMIM:310200: Duchenne muscular dystrophy

transcripts
ENST00000357033.4
ENST00000378677.2
ENST00000343523.2
ENST00000541735.1
ENST00000359836.1
ENST00000474231.1
ENST00000378707.3
NM_004018.2
NM_004017.2
NM_004016.2
NM_004015.2
NM_004019.2

pathways
Arrhythmogenic right ventricular cardiomyopathy (ARVC) [NCBI:117293] [KEGG:hsa05412] [PUBMED:16823481] [PUBMED:19205777] [PUBMED:11716909] [PUBMED:12270949] [PUBMED:18382419] [PUBMED:16101641] [PUBMED:16124859] [PUBMED:17413274]
Dilated cardiomyopathy [NCBI:121494] [KEGG:hsa05414] [PUBMED:11524405] [PUBMED:11805847] [PUBMED:12270949] [PUBMED:14522402] [PUBMED:19017683] [PUBMED:15146239] [PUBMED:18672201] [PUBMED:19273156] [PUBMED:19246813] [PUBMED:11716909] [PUBMED:16817756]
Extracellular matrix organization [NCBI:1270244] [REACTOME:R-HSA-1474244] [PUBMED:21123617] [PUBMED:21917992] [PUBMED:12845610]
Hypertrophic cardiomyopathy (HCM) [NCBI:114229] [KEGG:hsa05410] [PUBMED:11805847] [PUBMED:18572189] [PUBMED:14711353] [PUBMED:19136482] [PUBMED:18056765] [PUBMED:11225594] [PUBMED:12844200] [PUBMED:10615904] [PUBMED:11716909] [PUBMED:11371514] [PUBMED:12270949]
Muscle contraction [NCBI:1269868] [REACTOME:R-HSA-397014]
Non-integrin membrane-ECM interactions [NCBI:1270254] [REACTOME:R-HSA-3000171] [PUBMED:15039999] [PUBMED:20565253]
Striated Muscle Contraction [NCBI:1269869] [REACTOME:R-HSA-390522] [PUBMED:15173217] [PUBMED:13165697] [PUBMED:15173218] [PUBMED:13175187]
Viral myocarditis [NCBI:125138] [KEGG:hsa05416] [PUBMED:19357408] [PUBMED:18545064] [PUBMED:18357777] [PUBMED:11524405] [PUBMED:12920582] [PUBMED:14522402] [PUBMED:17200452] [PUBMED:18039131] [PUBMED:16413486] [PUBMED:12439638] [PUBMED:16817756] [PUBMED:16845885] [PUBMED:10051305] [PUBMED:10904843]