abnormal intercalated disc morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly in the electron dense junctional complex, at the end to end contacts of cardiac muscle cells, that contains two types of membrane junctions i.e. gap junctions and desmosomes; the intercalated discs permit communication between the cells such that there is a sequential contraction of the cells from the bottom of the ventricle to the top, facilitating maximal ejection of blood from the ventricle during contraction (Mammalian Phenotype Ontology, MP_0006267)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006267
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12 gene mutations causing the abnormal intercalated disc morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ATE1 arginyltransferase 1
CALR calreticulin
CSRP2 cysteine and glycine-rich protein 2
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
DES desmin
ESR2 estrogen receptor 2 (ER beta)
IGHMBP2 immunoglobulin mu binding protein 2
JUP junction plakoglobin
PLEC plectin
VCL vinculin
XIRP1 xin actin binding repeat containing 1
XIRP2 xin actin binding repeat containing 2