abnormal muscle contractility Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description aberrant ability of a muscle to shorten or to develop increased tension (Mammalian Phenotype Ontology, MP_0005620)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005620
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Genes

249 gene mutations causing the abnormal muscle contractility phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACE2 angiotensin I converting enzyme 2
ACTA2 actin, alpha 2, smooth muscle, aorta
ADCY6 adenylate cyclase 6
ADIPOQ adiponectin, C1Q and collagen domain containing
ADM adrenomedullin
ADRA1A adrenoceptor alpha 1A
ADRA1B adrenoceptor alpha 1B
ADRA2B adrenoceptor alpha 2B
ADRBK1 adrenergic, beta, receptor kinase 1
AGTR2 angiotensin II receptor, type 2
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AKAP12 A kinase (PRKA) anchor protein 12
ANXA6 annexin A6
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APLN apelin
APLNR apelin receptor
APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1
ARHGEF12 Rho guanine nucleotide exchange factor (GEF) 12
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ARRB1 arrestin, beta 1
ARSB arylsulfatase B
ASIC2 acid sensing (proton gated) ion channel 2
ASPH aspartate beta-hydroxylase
ATE1 arginyltransferase 1
ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2B4 ATPase, Ca++ transporting, plasma membrane 4
AVPR1A arginine vasopressin receptor 1A
BCAR1 breast cancer anti-estrogen resistance 1
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BRAF B-Raf proto-oncogene, serine/threonine kinase
CA3 carbonic anhydrase III
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
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1
CACNB1 calcium channel, voltage-dependent, beta 1 subunit
CASQ1 calsequestrin 1 (fast-twitch, skeletal muscle)
CASQ2 calsequestrin 2 (cardiac muscle)
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
CDC42 cell division cycle 42
CHRM2 cholinergic receptor, muscarinic 2
CHRM3 cholinergic receptor, muscarinic 3
CHRM4 cholinergic receptor, muscarinic 4
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CISD2 CDGSH iron sulfur domain 2
CKM creatine kinase, muscle
CLCN1 chloride channel, voltage-sensitive 1
CLIP3 CAP-GLY domain containing linker protein 3
CLU clusterin
CNOT3 CCR4-NOT transcription complex, subunit 3
COL1A1 collagen, type I, alpha 1
COL3A1 collagen, type III, alpha 1
COL4A3BP collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
COL6A1 collagen, type VI, alpha 1
COL6A3 collagen, type VI, alpha 3
CORIN corin, serine peptidase
COX7A1 cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)
CREM cAMP responsive element modulator
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTNNA3 catenin (cadherin-associated protein), alpha 3
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DDAH1 dimethylarginine dimethylaminohydrolase 1
DES desmin
DLG1 discs, large homolog 1 (Drosophila)
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
DNM1L dynamin 1-like
DST dystonin
EFNA1 ephrin-A1
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1
EP300 E1A binding protein p300
ESR2 estrogen receptor 2 (ER beta)
FGF2 fibroblast growth factor 2 (basic)
FHOD3 formin homology 2 domain containing 3
FKBP1A FK506 binding protein 1A, 12kDa
FKBP1B FK506 binding protein 1B, 12.6 kDa
FOXJ3 forkhead box J3
FXYD1 FXYD domain containing ion transport regulator 1
GATA5 GATA binding protein 5
GIPC1 GIPC PDZ domain containing family, member 1
GJA1 gap junction protein, alpha 1, 43kDa
GJC1 gap junction protein, gamma 1, 45kDa
GLRX3 glutaredoxin 3
GRK5 G protein-coupled receptor kinase 5
HAND2 heart and neural crest derivatives expressed 2
HBEGF heparin-binding EGF-like growth factor
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HMOX1 heme oxygenase 1
HOPX HOP homeobox
HPRT1 hypoxanthine phosphoribosyltransferase 1
HSPB8 heat shock 22kDa protein 8
ICAM1 intercellular adhesion molecule 1
IDUA iduronidase, alpha-L-
IER3 immediate early response 3
IGF1 insulin-like growth factor 1 (somatomedin C)
IL10 interleukin 10
IL18 interleukin 18
IL6 interleukin 6
INS insulin
IRX4 iroquois homeobox 4
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
IVNS1ABP influenza virus NS1A binding protein
JPH1 junctophilin 1
JUP junction plakoglobin
KCNA5 potassium channel, voltage gated shaker related subfamily A, member 5
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNK6 potassium channel, two pore domain subfamily K, member 6
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KCNMB1 potassium channel subfamily M regulatory beta subunit 1
KLF15 Kruppel-like factor 15
KLF3 Kruppel-like factor 3 (basic)
KLK3 kallikrein-related peptidase 3
KRAS Kirsten rat sarcoma viral oncogene homolog
KY kyphoscoliosis peptidase
LAMA4 laminin, alpha 4
LAMP2 lysosomal-associated membrane protein 2
LDB3 LIM domain binding 3
LEP leptin
LEPR leptin receptor
LIMS2 LIM and senescent cell antigen-like domains 2
LMNA lamin A/C
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK8 mitogen-activated protein kinase 8
MB myoglobin
MED30 mediator complex subunit 30
MEF2C myocyte enhancer factor 2C
MIR208A microRNA 208a
MIR22 microRNA 22
MMP9 matrix metallopeptidase 9
MRVI1 murine retrovirus integration site 1 homolog
MSTN myostatin
MTMR14 myotubularin related protein 14
MYBPC3 myosin binding protein C, cardiac
MYH1 myosin, heavy chain 1, skeletal muscle, adult
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
MYLK myosin light chain kinase
MYLK2 myosin light chain kinase 2
MYLK3 myosin light chain kinase 3
MYOZ2 myozenin 2
NBEA neurobeachin
NCF1 neutrophil cytosolic factor 1
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NEB nebulin
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NEK6 NIMA-related kinase 6
NGF nerve growth factor (beta polypeptide)
NKX2-5 NK2 homeobox 5
NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain)
NOS1 nitric oxide synthase 1 (neuronal)
NOS3 nitric oxide synthase 3 (endothelial cell)
NPY1R neuropeptide Y receptor Y1
NR1H2 nuclear receptor subfamily 1, group H, member 2
NRG1 neuregulin 1
NRTN neurturin
P2RY6 pyrimidinergic receptor P2Y, G-protein coupled, 6
PAX3 paired box 3
PDC phosducin
PDCD1 programmed cell death 1
PDE4D phosphodiesterase 4D, cAMP-specific
PDK2 pyruvate dehydrogenase kinase, isozyme 2
PDLIM3 PDZ and LIM domain 3
PDLIM5 PDZ and LIM domain 5
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PLA2G10 phospholipase A2, group X
PLA2G5 phospholipase A2, group V
PLAT plasminogen activator, tissue
PLAU plasminogen activator, urokinase
PLCE1 phospholipase C, epsilon 1
PLIN5 perilipin 5
PLN phospholamban
PNPLA2 patatin-like phospholipase domain containing 2
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PRKCA protein kinase C, alpha
PRKG1 protein kinase, cGMP-dependent, type I
PTGER2 prostaglandin E receptor 2 (subtype EP2), 53kDa
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PVALB parvalbumin
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RBM20 RNA binding motif protein 20
REN renin
RGS2 regulator of G-protein signaling 2
RORA RAR-related orphan receptor A
RRAD Ras-related associated with diabetes
RXRA retinoid X receptor, alpha
RYR1 ryanodine receptor 1 (skeletal)
RYR2 ryanodine receptor 2 (cardiac)
RYR3 ryanodine receptor 3
S100A1 S100 calcium binding protein A1
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SFRP2 secreted frizzled-related protein 2
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SLN sarcolipin
SMAD7 SMAD family member 7
SMTN smoothelin
SMTNL1 smoothelin-like 1
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SPEG SPEG complex locus
SPP1 secreted phosphoprotein 1
SPTBN4 spectrin, beta, non-erythrocytic 4
SRL sarcalumenin
SYNC syncoilin, intermediate filament protein
SYPL2 synaptophysin-like 2
TBX20 T-box 20
TBX3 T-box 3
TERC telomerase RNA component
THBS4 thrombospondin 4
THRA thyroid hormone receptor, alpha
TIMP3 TIMP metallopeptidase inhibitor 3
TMOD1 tropomodulin 1
TNNT2 troponin T type 2 (cardiac)
TPH1 tryptophan hydroxylase 1
TPM3 tropomyosin 3
TRIM54 tripartite motif containing 54
TRIM72 tripartite motif containing 72, E3 ubiquitin protein ligase
TRPC6 transient receptor potential cation channel, subfamily C, member 6
TRPM2 transient receptor potential cation channel, subfamily M, member 2
TTN titin
TXNIP thioredoxin interacting protein
UTS2R urotensin 2 receptor
VAV3 vav 3 guanine nucleotide exchange factor
VCL vinculin
VEGFA vascular endothelial growth factor A
VIM vimentin
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
XIRP1 xin actin binding repeat containing 1