abnormal muscle fiber morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the muscle fibers, the cylindrical multinucleated muscle cells that contract when stimulated (Mammalian Phenotype Ontology, MP_0004087)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004087
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Genes

265 gene mutations causing the abnormal muscle fiber morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACADVL acyl-CoA dehydrogenase, very long chain
ACKR3 atypical chemokine receptor 3
ACTA1 actin, alpha 1, skeletal muscle
ACTC1 actin, alpha, cardiac muscle 1
ADAM17 ADAM metallopeptidase domain 17
ADIPOQ adiponectin, C1Q and collagen domain containing
AFG3L2 AFG3-like AAA ATPase 2
AGTPBP1 ATP/GTP binding protein 1
AGTR2 angiotensin II receptor, type 2
AKAP12 A kinase (PRKA) anchor protein 12
AKAP13 A kinase (PRKA) anchor protein 13
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
APP amyloid beta (A4) precursor protein
AR androgen receptor
ASL argininosuccinate lyase
ATE1 arginyltransferase 1
BAG3 BCL2-associated athanogene 3
BARX2 BARX homeobox 2
BCAR1 breast cancer anti-estrogen resistance 1
BCL6 B-cell CLL/lymphoma 6
BIN1 bridging integrator 1
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CACNB1 calcium channel, voltage-dependent, beta 1 subunit
CALR calreticulin
CAMK2D calcium/calmodulin-dependent protein kinase II delta
CAPN3 calpain 3, (p94)
CASQ1 calsequestrin 1 (fast-twitch, skeletal muscle)
CASQ2 calsequestrin 2 (cardiac muscle)
CAV1 caveolin 1, caveolae protein, 22kDa
CAV2 caveolin 2
CAV3 caveolin 3
CD47 CD47 molecule
CDH2 cadherin 2, type 1, N-cadherin (neuronal)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CENPJ centromere protein J
CFL2 cofilin 2 (muscle)
CHAT choline O-acetyltransferase
CHD2 chromodomain helicase DNA binding protein 2
CHKB choline kinase beta
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CISD2 CDGSH iron sulfur domain 2
CLU clusterin
COL12A1 collagen, type XII, alpha 1
COL13A1 collagen, type XIII, alpha 1
COL15A1 collagen, type XV, alpha 1
COL6A1 collagen, type VI, alpha 1
COL6A3 collagen, type VI, alpha 3
COMP cartilage oligomeric matrix protein
COX1
CRYAB crystallin, alpha B
CSRP2 cysteine and glycine-rich protein 2
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTH cystathionine gamma-lyase
CTNNA3 catenin (cadherin-associated protein), alpha 3
CXADR coxsackie virus and adenovirus receptor
CYBB cytochrome b-245, beta polypeptide
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
DAAM1 dishevelled associated activator of morphogenesis 1
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DES desmin
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
DNM1L dynamin 1-like
DNM2 dynamin 2
DOCK1 dedicator of cytokinesis 1
DST dystonin
DTNA dystrobrevin, alpha
DUSP1 dual specificity phosphatase 1
DYSF dysferlin
EMD emerin
EP300 E1A binding protein p300
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPO erythropoietin
ESR2 estrogen receptor 2 (ER beta)
FBN1 fibrillin 1
FBN2 fibrillin 2
FGFR1 fibroblast growth factor receptor 1
FKRP fukutin related protein
FLNC filamin C, gamma
FOXM1 forkhead box M1
FOXN1 forkhead box N1
FST follistatin
FXR1 fragile X mental retardation, autosomal homolog 1
FZD4 frizzled class receptor 4
GAA glucosidase, alpha; acid
GARS glycyl-tRNA synthetase
GATA5 GATA binding protein 5
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HBEGF heparin-binding EGF-like growth factor
HDAC2 histone deacetylase 2
HEXIM1 hexamethylene bis-acetamide inducible 1
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HIF3A hypoxia inducible factor 3, alpha subunit
HOPX HOP homeobox
HSD17B7 hydroxysteroid (17-beta) dehydrogenase 7
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HSPG2 heparan sulfate proteoglycan 2
IDUA iduronidase, alpha-L-
IER3 immediate early response 3
IGHMBP2 immunoglobulin mu binding protein 2
IL6 interleukin 6
ILF3 interleukin enhancer binding factor 3, 90kDa
ITGA7 integrin, alpha 7
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
JARID2 jumonji, AT rich interactive domain 2
JPH1 junctophilin 1
JPH2 junctophilin 2
JUP junction plakoglobin
KALRN kalirin, RhoGEF kinase
KLF15 Kruppel-like factor 15
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMA2 laminin, alpha 2
LAMA4 laminin, alpha 4
LAMC1 laminin, gamma 1 (formerly LAMB2)
LARGE like-glycosyltransferase
LDB3 LIM domain binding 3
LEP leptin
LEPR leptin receptor
LMNA lamin A/C
LMO7 LIM domain 7
LTBP4 latent transforming growth factor beta binding protein 4
LTN1 listerin E3 ubiquitin protein ligase 1
MAML1 mastermind-like 1 (Drosophila)
MAP1S microtubule-associated protein 1S
MAPK14 mitogen-activated protein kinase 14
MARVELD2 MARVEL domain containing 2
MBNL1 muscleblind-like splicing regulator 1
MBNL2 muscleblind-like splicing regulator 2
MBNL3 muscleblind-like splicing regulator 3
MED30 mediator complex subunit 30
MEG3 maternally expressed 3 (non-protein coding)
MEOX2 mesenchyme homeobox 2
MFSD8 major facilitator superfamily domain containing 8
MIR208A microRNA 208a
MKL1 megakaryoblastic leukemia (translocation) 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MNX1 motor neuron and pancreas homeobox 1
MPO myeloperoxidase
MPZL3 myelin protein zero-like 3
MSTN myostatin
MTM1 myotubularin 1
MTMR14 myotubularin related protein 14
MYBPC3 myosin binding protein C, cardiac
MYF5 myogenic factor 5
MYH10 myosin, heavy chain 10, non-muscle
MYH11 myosin, heavy chain 11, smooth muscle
MYH4 myosin, heavy chain 4, skeletal muscle
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYL7 myosin, light chain 7, regulatory
MYLK3 myosin light chain kinase 3
MYO18B myosin XVIIIB
MYOF myoferlin
MYOZ1 myozenin 1
MYOZ2 myozenin 2
NCOA3 nuclear receptor coactivator 3
NEB nebulin
NEK6 NIMA-related kinase 6
NFATC3 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3
NGF nerve growth factor (beta polypeptide)
NOG noggin
NPPB natriuretic peptide B
NR1D1 nuclear receptor subfamily 1, group D, member 1
NRG1 neuregulin 1
OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
PARL presenilin associated, rhomboid-like
PAX7 paired box 7
PDLIM5 PDZ and LIM domain 5
PEPD peptidase D
PFKM phosphofructokinase, muscle
PHIP pleckstrin homology domain interacting protein
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLEC plectin
PNPLA2 patatin-like phospholipase domain containing 2
POLG polymerase (DNA directed), gamma
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
PPARA peroxisome proliferator-activated receptor alpha
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PPP3CB protein phosphatase 3, catalytic subunit, beta isozyme
PRKAB2 protein kinase, AMP-activated, beta 2 non-catalytic subunit
PSAP prosaposin
PTCD2 pentatricopeptide repeat domain 2
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAPGEF4 Rap guanine nucleotide exchange factor (GEF) 4
RBM20 RNA binding motif protein 20
RER1 retention in endoplasmic reticulum sorting receptor 1
RPS6KA2 ribosomal protein S6 kinase, 90kDa, polypeptide 2
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1
RYR1 ryanodine receptor 1 (skeletal)
RYR2 ryanodine receptor 2 (cardiac)
SAMD4A sterile alpha motif domain containing 4A
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCYL1 SCY1-like 1 (S. cerevisiae)
SEPN1 selenoprotein N, 1
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SGPL1 sphingosine-1-phosphate lyase 1
SIRT7 sirtuin 7
SIX1 SIX homeobox 1
SKI SKI proto-oncogene
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SLC8A3 solute carrier family 8 (sodium/calcium exchanger), member 3
SMN1 survival of motor neuron 1, telomeric
SOD2 superoxide dismutase 2, mitochondrial
SOS1 son of sevenless homolog 1 (Drosophila)
SPTBN1 spectrin, beta, non-erythrocytic 1
SRL sarcalumenin
SRPK3 SRSF protein kinase 3
SYNE1 spectrin repeat containing, nuclear envelope 1
SYPL2 synaptophysin-like 2
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TCAP titin-cap
TERC telomerase RNA component
TGFBR3 transforming growth factor, beta receptor III
THBS1 thrombospondin 1
TK2 thymidine kinase 2, mitochondrial
TLN2 talin 2
TMOD1 tropomodulin 1
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TRDN triadin
TREX1 three prime repair exonuclease 1
TRIM32 tripartite motif containing 32
TRIM54 tripartite motif containing 54
TRIM55 tripartite motif containing 55
TRIM63 tripartite motif containing 63, E3 ubiquitin protein ligase
TRIM72 tripartite motif containing 72, E3 ubiquitin protein ligase
TRIO trio Rho guanine nucleotide exchange factor
TRPM2 transient receptor potential cation channel, subfamily M, member 2
TTN titin
TTPA tocopherol (alpha) transfer protein
UBE4B ubiquitination factor E4B
UCHL3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)
VAV2 vav 2 guanine nucleotide exchange factor
VAV3 vav 3 guanine nucleotide exchange factor
VCL vinculin
VCP valosin containing protein
VEGFA vascular endothelial growth factor A
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)
WASF1 WAS protein family, member 1
XIRP1 xin actin binding repeat containing 1
XIRP2 xin actin binding repeat containing 2
XK X-linked Kx blood group