abnormal nervous system electrophysiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations. (Human Phenotype Ontology, HP_0001311)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002272
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Genes

229 gene mutations causing the abnormal nervous system electrophysiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ABCD2 ATP-binding cassette, sub-family D (ALD), member 2
ADCY8 adenylate cyclase 8 (brain)
ADORA1 adenosine A1 receptor
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
AP3D1 adaptor-related protein complex 3, delta 1 subunit
AP3M2 adaptor-related protein complex 3, mu 2 subunit
ARC activity-regulated cytoskeleton-associated protein
ARX aristaless related homeobox
ASIC2 acid sensing (proton gated) ion channel 2
ASIC3 acid sensing (proton gated) ion channel 3
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
BDNF brain-derived neurotrophic factor
BSN bassoon presynaptic cytomatrix protein
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1B calcium channel, voltage-dependent, N type, alpha 1B subunit
CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CACNG2 calcium channel, voltage-dependent, gamma subunit 2
CALB1 calbindin 1, 28kDa
CALB2 calbindin 2
CANX calnexin
CCR10 chemokine (C-C motif) receptor 10
CD86 CD86 molecule
CDH23 cadherin-related 23
CDKL5 cyclin-dependent kinase-like 5
CHD7 chromodomain helicase DNA binding protein 7
CHN1 chimerin 1
CHRM1 cholinergic receptor, muscarinic 1
CHRM3 cholinergic receptor, muscarinic 3
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal)
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CHRNA9 cholinergic receptor, nicotinic, alpha 9 (neuronal)
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal)
CLCN2 chloride channel, voltage-sensitive 2
CLOCK clock circadian regulator
CNGB1 cyclic nucleotide gated channel beta 1
CNTNAP1 contactin associated protein 1
CNTNAP2 contactin associated protein-like 2
CREB1 cAMP responsive element binding protein 1
CSTB cystatin B (stefin B)
DAGLA diacylglycerol lipase, alpha
DPP6 dipeptidyl-peptidase 6
DRD2 dopamine receptor D2
DRD4 dopamine receptor D4
DYNC1LI1 dynein, cytoplasmic 1, light intermediate chain 1
EBF2 early B-cell factor 2
EGR2 early growth response 2
ELAVL3 ELAV like neuron-specific RNA binding protein 3
EMX2 empty spiracles homeobox 2
ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2
EPB41L3 erythrocyte membrane protein band 4.1-like 3
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
EPS8L2 EPS8-like 2
ERBB2IP erbb2 interacting protein
ESPN espin
ETV1 ets variant 1
FGD4 FYVE, RhoGEF and PH domain containing 4
FGFR1 fibroblast growth factor receptor 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FMR1 fragile X mental retardation 1
FOXO6 forkhead box O6
FZD2 frizzled class receptor 2
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GABRR1 gamma-aminobutyric acid (GABA) A receptor, rho 1
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GARS glycyl-tRNA synthetase
GBX1 gastrulation brain homeobox 1
GCLM glutamate-cysteine ligase, modifier subunit
GIT1 G protein-coupled receptor kinase interacting ArfGAP 1
GJB1 gap junction protein, beta 1, 32kDa
GJD2 gap junction protein, delta 2, 36kDa
GLRA1 glycine receptor, alpha 1
GLRA2 glycine receptor, alpha 2
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNPAT glyceronephosphate O-acyltransferase
GPHN gephyrin
GRIA2 glutamate receptor, ionotropic, AMPA 2
GRIA4 glutamate receptor, ionotropic, AMPA 4
GRID2 glutamate receptor, ionotropic, delta 2
GRIK1 glutamate receptor, ionotropic, kainate 1
GRIK2 glutamate receptor, ionotropic, kainate 2
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRIN3A glutamate receptor, ionotropic, N-methyl-D-aspartate 3A
GRM1 glutamate receptor, metabotropic 1
GRM5 glutamate receptor, metabotropic 5
GRXCR1 glutaredoxin, cysteine rich 1
GSN gelsolin
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
HCN2 hyperpolarization activated cyclic nucleotide gated potassium channel 2
HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4
HCRT hypocretin (orexin) neuropeptide precursor
HMOX2 heme oxygenase 2
HSPG2 heparan sulfate proteoglycan 2
HTRA2 HtrA serine peptidase 2
IL1R1 interleukin 1 receptor, type I
IL6ST interleukin 6 signal transducer
KALRN kalirin, RhoGEF kinase
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2
KCNA5 potassium channel, voltage gated shaker related subfamily A, member 5
KCNAB1 potassium channel, voltage gated subfamily A regulatory beta subunit 1
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNC2 potassium channel, voltage gated Shaw related subfamily C, member 2
KCNH3 potassium channel, voltage gated eag related subfamily H, member 3
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNJ16 potassium channel, inwardly rectifying subfamily J, member 16
KCNK18 potassium channel, two pore domain subfamily K, member 18
KCNK3 potassium channel, two pore domain subfamily K, member 3
KCNK9 potassium channel, two pore domain subfamily K, member 9
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KCNMB4 potassium channel subfamily M regulatory beta subunit 4
KCNN2 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 2
KCNN3 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
KCNQ5 potassium channel, voltage gated KQT-like subfamily Q, member 5
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
LAMA2 laminin, alpha 2
LEP leptin
LEPR leptin receptor
LGI1 leucine-rich, glioma inactivated 1
LPIN1 lipin 1
LRRK2 leucine-rich repeat kinase 2
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
MADD MAP-kinase activating death domain
MAOA monoamine oxidase A
MAP1B microtubule-associated protein 1B
MCHR1 melanin-concentrating hormone receptor 1
MECP2 methyl CpG binding protein 2
MIR96 microRNA 96
MPZ myelin protein zero
MRGPRD MAS-related GPR, member D
MTMR2 myotubularin related protein 2
MYO6 myosin VI
MYO7A myosin VIIA
NALCN sodium leak channel, non selective
NDN necdin, melanoma antigen (MAGE) family member
NDRG1 N-myc downstream regulated 1
NEFM neurofilament, medium polypeptide
NEUROD1 neuronal differentiation 1
NF2 neurofibromin 2 (merlin)
NFASC neurofascin
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NKX6-2 NK6 homeobox 2
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NPAS2 neuronal PAS domain protein 2
NRCAM neuronal cell adhesion molecule
NRG1 neuregulin 1
NUP155 nucleoporin 155kDa
OPRM1 opioid receptor, mu 1
OTOA otoancorin
OTOS otospiralin
P2RX3 purinergic receptor P2X, ligand gated ion channel, 3
PARK2 parkin RBR E3 ubiquitin protein ligase
PARK7 parkinson protein 7
PARL presenilin associated, rhomboid-like
PARP10 poly (ADP-ribose) polymerase family, member 10
PAX8 paired box 8
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
PDC phosducin
PER1 period circadian clock 1
PER3 period circadian clock 3
PHYH phytanoyl-CoA 2-hydroxylase
PINK1 PTEN induced putative kinase 1
PKD2L1 polycystic kidney disease 2-like 1
PLCL1 phospholipase C-like 1
PLEC plectin
PLP1 proteolipid protein 1
PMP22 peripheral myelin protein 22
PRX periaxin
RAI1 retinoic acid induced 1
RGS14 regulator of G-protein signaling 14
RGS2 regulator of G-protein signaling 2
RUNX3 runt-related transcription factor 3
RYR2 ryanodine receptor 2 (cardiac)
S1PR2 sphingosine-1-phosphate receptor 2
SBF2 SET binding factor 2
SCN10A sodium channel, voltage gated, type X alpha subunit
SCN11A sodium channel, voltage gated, type XI alpha subunit
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN1B sodium channel, voltage gated, type I beta subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN2B sodium channel, voltage gated, type II beta subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5
SLC17A7 solute carrier family 17 (vesicular glutamate transporter), member 7
SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8
SLC1A6 solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6
SLC26A5 solute carrier family 26 (anion exchanger), member 5
SLC2A3 solute carrier family 2 (facilitated glucose transporter), member 3
SLC32A1 solute carrier family 32 (GABA vesicular transporter), member 1
SLC5A3 solute carrier family 5 (sodium/myo-inositol cotransporter), member 3
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLC6A9 solute carrier family 6 (neurotransmitter transporter, glycine), member 9
SOX2 SRY (sex determining region Y)-box 2
SPTBN2 spectrin, beta, non-erythrocytic 2
SST somatostatin
SSTR1 somatostatin receptor 1
SSTR2 somatostatin receptor 2
STMN1 stathmin 1
STOML3 stomatin (EPB72)-like 3
TACR1 tachykinin receptor 1
TECTA tectorin alpha
TECTB tectorin beta
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
THRB thyroid hormone receptor, beta
TNR tenascin R
TPH2 tryptophan hydroxylase 2
TRPC1 transient receptor potential cation channel, subfamily C, member 1
TRPC2 transient receptor potential cation channel, subfamily C, member 2, pseudogene
TRPC3 transient receptor potential cation channel, subfamily C, member 3
TRPV1 transient receptor potential cation channel, subfamily V, member 1
UBE3A ubiquitin protein ligase E3A
UGT8 UDP glycosyltransferase 8