QuickView for Desmin (gene)

Gene Symbol:

DES Homo sapiens

Full name:

desmin

Synonyms:

CDCD3, CMD1F, CSM1, CSM2, LGMD1D, LGMD1E, LGMD2R, desmin, cardiomyopathy, dilated 1F (autosomal dominant), intermediate filament protein, mutant desmin p.K241E

Genomic Location:

Chr 2: 219991343-219999705

Description:

This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopa...

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This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Bos taurus ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGGAAA_NFAT_Q4_01 ,  SP1_01 ,  TGIF_01 ,  TGANTCA_AP1_C ,  RYTTCCTG_ETS2_B ,  HOXA4_Q2 ,  GCANCTGNY_MYOD_Q6 ,  TEL2_Q6 ,  CTTTGA_LEF1_Q2 ,  CTAWWWATA_RSRFC4_Q2 ,  EGR2_01 ,  GGGAGGRR_MAZ_Q6 ,  TGAYRTCA_ATF3_Q6 ,  TATAAA_TATA_01 ,  CDPCR3HD_01 ,  ATF3_Q6 ,  GGGCGGR_SP1_Q6 ,  MGGAAGTG_GABP_B ,  AP4_Q6_01 ,  MYOGENIN_Q6 ,  TATA_01 ,  TGACAGNY_MEIS1_01 ,  TBP_01 ,  CAGCTG_AP4_Q5 ,  AP4_Q5 ,  TGACATY_UNKNOWN ,  SP1_Q2_01

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-370

Cytogenetic Map:

2q35

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