Envelope proteins and their potential roles in EDMD physiopathology (Homo sapiens)

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Schematic model of the nuclear envelope proteins and their potential roles in EDMD physiopathology.

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Ontology Terms



  1. Brull A, Morales Rodriguez B, Bonne G, Muchir A, Bertrand AT; ''The Pathogenesis and Therapies of Striated Muscle Laminopathies.''; Front Physiol, 2018 PubMed Europe PMC Scholia


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109210view14:41, 27 February 2020Marvin M2Connected unconnected line
104294view13:01, 15 May 2019FehrhartOntology Term : 'disease pathway' added !
104293view13:00, 15 May 2019FehrhartModified description
103621view18:34, 21 March 2019AlexanderPicofixed unconnected lines and layout
103620view18:25, 21 March 2019AlexanderPicoadjusted width of cell
103435view09:52, 1 March 2019Marvin M2Ontology Term : 'Emery-Dreifuss muscular dystrophy' added !
103295view16:07, 21 February 2019LaurentModified description
103292view15:58, 21 February 2019LaurentNew pathway

External references


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NameTypeDatabase referenceComment
ADCY10GeneProduct55811 (Entrez Gene) A/C
ADCY1GeneProduct107 (Entrez Gene) A/C
ADCY2GeneProduct108 (Entrez Gene) A/C
ADCY3GeneProduct109 (Entrez Gene) A/C
ADCY4GeneProduct196883 (Entrez Gene) A/C
ADCY5GeneProduct111 (Entrez Gene) A/C
ADCY6GeneProduct112 (Entrez Gene) A/C
ADCY7GeneProduct113 (Entrez Gene) A/C
ADCY8GeneProduct114 (Entrez Gene) A/C
ADCY9GeneProduct115 (Entrez Gene) A/C
BANF1GeneProduct8815 (Entrez Gene) BAF
CTGFGeneProduct1490 (Entrez Gene) CTGF/CCN2
Cofilin-1GeneProduct1072 (Entrez Gene)
EMDGeneProduct2010 (Entrez Gene)
Grb2GeneProduct2885 (Entrez Gene)
HRASGeneProduct3265 (Entrez Gene) Ras
KIF5BGeneProduct3799 (Entrez Gene) Kif5B
KRASGeneProduct3845 (Entrez Gene) Ras
LBRGeneProduct3930 (Entrez Gene) LBR
LEMD3GeneProduct23592 (Entrez Gene) MAN-1
MAP2K1GeneProduct5604 (Entrez Gene) MEK
MAP2K2GeneProduct5605 (Entrez Gene) MEK
MAP3K9GeneProduct4293 (Entrez Gene) MLK1
MAPK1GeneProduct5594 (Entrez Gene) ERK
MAPK3GeneProduct5595 (Entrez Gene) ERK
NRASGeneProduct4893 (Entrez Gene) Ras
PLECGeneProduct5339 (Entrez Gene)
RhoAGeneProduct387 (Entrez Gene)
SOS1GeneProduct6654 (Entrez Gene)
SOS2GeneProduct6655 (Entrez Gene)
SRFGeneProduct6722 (Entrez Gene) SRF
SUNGeneProduct23353 (Entrez Gene)
SYNE1GeneProduct23345 (Entrez Gene) nesprin1/2
SYNE2GeneProduct23224 (Entrez Gene) nesprin1/2
SYNE3GeneProduct161176 (Entrez Gene) nesprin3
SYNE4GeneProduct163183 (Entrez Gene) nesprin4
Smad2GeneProduct4087 (Entrez Gene)
Smad3GeneProduct4088 (Entrez Gene)
Smad4GeneProduct4089 (Entrez Gene)
TAZGeneProduct6901 (Entrez Gene) YAP/TAZ
TGFB1GeneProduct7040 (Entrez Gene) TGF-B
TGFB2GeneProduct7042 (Entrez Gene) TGF-B
TGFB3GeneProduct7043 (Entrez Gene) TGF-B
TMEM43GeneProduct79188 (Entrez Gene) LUMA
TMPOGeneProduct7112 (Entrez Gene)
YY1AP1GeneProduct55249 (Entrez Gene) YAP/TAZ

Annotated Interactions

No annotated interactions

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