full name
desmin

synonyms
CSM1, CSM2, LGMD2R, DES, ENSG00000175084

HGNC
HGNC:2770

Entrez Gene
Gene:1674

ENSEMBL
ENSG00000175084

location
chr: 2
start: 220283099
stop: 220291461
strand: +

OMIM
OMIM:125660: DES (Autosomal dominant inheritance)
OMIM:604765: ?Cardiomyopathy, dilated, 1I
OMIM:601419: Myopathy, myofibrillar, 1
OMIM:181400: Scapuloperoneal syndrome, neurogenic, Kaeser type

transcripts
NM_001927.3

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]
Aurora B signaling [NCBI:138080] [Pathway Interaction Database:aurora_b_pathway] [PUBMED:14960279] [PUBMED:15249581] [PUBMED:17129783] [PUBMED:15263015] [PUBMED:15854913] [PUBMED:14605209] [PUBMED:12689593] [PUBMED:15499654] [PUBMED:17483322] [PUBMED:15316025] [PUBMED:11350965] [PUBMED:11516652] [PUBMED:11976319] [PUBMED:16222246] [PUBMED:12925766] [PUBMED:15260989] [PUBMED:16764853] [PUBMED:15796717] [PUBMED:16916643] [PUBMED:14667408] [PUBMED:17389228] [PUBMED:16687578] [PUBMED:14722118] [PUBMED:12082625] [PUBMED:17356064] [PUBMED:16222244] [PUBMED:11756469] [PUBMED:17457057] [PUBMED:15350530] [PUBMED:17322402] [PUBMED:11856369] [PUBMED:17199039] [PUBMED:17129782] [PUBMED:12419797] [PUBMED:16046481] [PUBMED:15064709] [PUBMED:12458200] [PUBMED:15064354] [PUBMED:14674694] [PUBMED:16179162] [PUBMED:17543862] [PUBMED:17215513] [PUBMED:12686604] [PUBMED:16537398]
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]
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]
Striated Muscle Contraction [NCBI:1269869] [REACTOME:R-HSA-390522] [PUBMED:15173217] [PUBMED:13165697] [PUBMED:15173218] [PUBMED:13175187]