abnormal seizure response to inducing agent Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the seizure activity response to an agent that normally can induce uncontrolled electrical activity in the brain, producing a physical convulsion and/or minor change in physical behavior (Mammalian Phenotype Ontology, MP_0009357)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009357
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Genes

148 gene mutations causing the abnormal seizure response to inducing agent phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif, 4
ADGRV1 adhesion G protein-coupled receptor V1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AKAP5 A kinase (PRKA) anchor protein 5
AKT3 v-akt murine thymoma viral oncogene homolog 3
AMPH amphiphysin
AP3M2 adaptor-related protein complex 3, mu 2 subunit
APOE apolipoprotein E
ARX aristaless related homeobox
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
AVPR1B arginine vasopressin receptor 1B
BHLHE40 basic helix-loop-helix family, member e40
BSN bassoon presynaptic cytomatrix protein
CA7 carbonic anhydrase VII
CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35)
CDKL5 cyclin-dependent kinase-like 5
CELF4 CUGBP, Elav-like family member 4
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CHRNA5 cholinergic receptor, nicotinic, alpha 5 (neuronal)
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHRNB4 cholinergic receptor, nicotinic, beta 4 (neuronal)
CIT citron rho-interacting serine/threonine kinase
CKB creatine kinase, brain
CLCN3 chloride channel, voltage-sensitive 3
CLN3 ceroid-lipofuscinosis, neuronal 3
CNR1 cannabinoid receptor 1 (brain)
CNTN2 contactin 2 (axonal)
CNTN5 contactin 5
CNTNAP2 contactin associated protein-like 2
CREM cAMP responsive element modulator
DNM1 dynamin 1
DRD2 dopamine receptor D2
EFHC1 EF-hand domain (C-terminal) containing 1
FAIM2 Fas apoptotic inhibitory molecule 2
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FGF14 fibroblast growth factor 14
FGF22 fibroblast growth factor 22
FGF7 fibroblast growth factor 7
FMR1 fragile X mental retardation 1
FOSB FBJ murine osteosarcoma viral oncogene homolog B
FYN FYN proto-oncogene, Src family tyrosine kinase
FZD9 frizzled class receptor 9
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GAL galanin/GMAP prepropeptide
GDI1 GDP dissociation inhibitor 1
GFAP glial fibrillary acidic protein
GFRA2 GDNF family receptor alpha 2
GLRA1 glycine receptor, alpha 1
GLRA3 glycine receptor, alpha 3
GNG3 guanine nucleotide binding protein (G protein), gamma 3
GRIA3 glutamate receptor, ionotropic, AMPA 3
GRIA4 glutamate receptor, ionotropic, AMPA 4
GRIK2 glutamate receptor, ionotropic, kainate 2
GRIK5 glutamate receptor, ionotropic, kainate 5
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRM5 glutamate receptor, metabotropic 5
GRM7 glutamate receptor, metabotropic 7
HCN2 hyperpolarization activated cyclic nucleotide gated potassium channel 2
HCRTR1 hypocretin (orexin) receptor 1
HDAC4 histone deacetylase 4
HEXB hexosaminidase B (beta polypeptide)
HRH2 histamine receptor H2
HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
HTR4 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled
HTR7 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled
IMPA1 inositol(myo)-1(or 4)-monophosphatase 1
JUN jun proto-oncogene
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2
KCNC2 potassium channel, voltage gated Shaw related subfamily C, member 2
KCNH3 potassium channel, voltage gated eag related subfamily H, member 3
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KCNK2 potassium channel, two pore domain subfamily K, member 2
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
KLK8 kallikrein-related peptidase 8
LGI1 leucine-rich, glioma inactivated 1
LHX6 LIM homeobox 6
MAPK10 mitogen-activated protein kinase 10
MAPT microtubule-associated protein tau
MBP myelin basic protein
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MECP2 methyl CpG binding protein 2
MT3 metallothionein 3
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NEUROD2 neuronal differentiation 2
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NPY neuropeptide Y
NPY2R neuropeptide Y receptor Y2
NR4A3 nuclear receptor subfamily 4, group A, member 3
NRP2 neuropilin 2
OPRD1 opioid receptor, delta 1
P2RX6 purinergic receptor P2X, ligand gated ion channel, 6
PAH phenylalanine hydroxylase
PANX1 pannexin 1
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
PDE8A phosphodiesterase 8A
PDYN prodynorphin
PLAUR plasminogen activator, urokinase receptor
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PLCL1 phospholipase C-like 1
PLP1 proteolipid protein 1
PPP1R9B protein phosphatase 1, regulatory subunit 9B
PRICKLE1 prickle homolog 1 (Drosophila)
PRICKLE2 prickle homolog 2 (Drosophila)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTPRO protein tyrosine phosphatase, receptor type, O
RYR2 ryanodine receptor 2 (cardiac)
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN1B sodium channel, voltage gated, type I beta subunit
SCN2B sodium channel, voltage gated, type II beta subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2
SEZ6 seizure related 6 homolog (mouse)
SHANK3 SH3 and multiple ankyrin repeat domains 3
SLC10A4 solute carrier family 10, member 4
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC4A10 solute carrier family 4, sodium bicarbonate transporter, member 10
SLC4A3 solute carrier family 4 (anion exchanger), member 3
SLC6A11 solute carrier family 6 (neurotransmitter transporter), member 11
SLC7A8 solute carrier family 7 (amino acid transporter light chain, L system), member 8
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
STAM signal transducing adaptor molecule (SH3 domain and ITAM motif) 1
SYN1 synapsin I
SYNGAP1 synaptic Ras GTPase activating protein 1
SZT2 seizure threshold 2 homolog (mouse)
TECTA tectorin alpha
THRB thyroid hormone receptor, beta
TPP1 tripeptidyl peptidase I
TRIM3 tripartite motif containing 3
TRPC5 transient receptor potential cation channel, subfamily C, member 5
TYRO3 TYRO3 protein tyrosine kinase
UBE3A ubiquitin protein ligase E3A
USF1 upstream transcription factor 1