centrally nucleated skeletal muscle fibers Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells). (Human Phenotype Ontology, HP_0003687)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009404
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Genes

55 gene mutations causing the centrally nucleated skeletal muscle fibers phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AFG3L2 AFG3-like AAA ATPase 2
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
APP amyloid beta (A4) precursor protein
AR androgen receptor
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CAPN3 calpain 3, (p94)
CHKB choline kinase beta
COL6A1 collagen, type VI, alpha 1
COL6A3 collagen, type VI, alpha 3
COMP cartilage oligomeric matrix protein
CRYAB crystallin, alpha B
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DES desmin
DMD dystrophin
DNM2 dynamin 2
DYSF dysferlin
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
FBN2 fibrillin 2
FKRP fukutin related protein
FLNC filamin C, gamma
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HSPG2 heparan sulfate proteoglycan 2
IGHMBP2 immunoglobulin mu binding protein 2
ITGA7 integrin, alpha 7
LAMA2 laminin, alpha 2
LAMC1 laminin, gamma 1 (formerly LAMB2)
LARGE like-glycosyltransferase
LMNA lamin A/C
MBNL1 muscleblind-like splicing regulator 1
MBNL2 muscleblind-like splicing regulator 2
MEOX2 mesenchyme homeobox 2
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MTM1 myotubularin 1
MYF5 myogenic factor 5
MYH4 myosin, heavy chain 4, skeletal muscle
NRG1 neuregulin 1
OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
PFKM phosphofructokinase, muscle
PLEC plectin
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
RYR1 ryanodine receptor 1 (skeletal)
SAMD4A sterile alpha motif domain containing 4A
SCYL1 SCY1-like 1 (S. cerevisiae)
SEPN1 selenoprotein N, 1
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SRPK3 SRSF protein kinase 3
SYNE1 spectrin repeat containing, nuclear envelope 1
TCAP titin-cap
TLN2 talin 2
TRIM32 tripartite motif containing 32
TRIM72 tripartite motif containing 72, E3 ubiquitin protein ligase
TTN titin
VCP valosin containing protein
XK X-linked Kx blood group
Funding