abnormal action potential Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description change in the electric response of a nerve or other excitable tissue to its stimulation (Mammalian Phenotype Ontology, MP_0005402)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005402
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Genes

88 gene mutations causing the abnormal action potential phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
BSN bassoon presynaptic cytomatrix protein
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit
CCR10 chemokine (C-C motif) receptor 10
CD86 CD86 molecule
CDH23 cadherin-related 23
CHD7 chromodomain helicase DNA binding protein 7
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal)
CHRNA9 cholinergic receptor, nicotinic, alpha 9 (neuronal)
CNGB1 cyclic nucleotide gated channel beta 1
CNTNAP1 contactin associated protein 1
DYNC1LI1 dynein, cytoplasmic 1, light intermediate chain 1
EMX2 empty spiracles homeobox 2
EPS8L2 EPS8-like 2
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
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GJD2 gap junction protein, delta 2, 36kDa
GRIA4 glutamate receptor, ionotropic, AMPA 4
GRID2 glutamate receptor, ionotropic, delta 2
GRXCR1 glutaredoxin, cysteine rich 1
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
HSPG2 heparan sulfate proteoglycan 2
HTRA2 HtrA serine peptidase 2
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
KCNAB1 potassium channel, voltage gated subfamily A regulatory beta subunit 1
KCNC2 potassium channel, voltage gated Shaw related subfamily C, member 2
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
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
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
LPIN1 lipin 1
LRRK2 leucine-rich repeat kinase 2
MADD MAP-kinase activating death domain
MECP2 methyl CpG binding protein 2
MIR96 microRNA 96
MYO6 myosin VI
MYO7A myosin VIIA
NEFM neurofilament, medium polypeptide
NF2 neurofibromin 2 (merlin)
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NUP155 nucleoporin 155kDa
OPRM1 opioid receptor, mu 1
OTOA otoancorin
OTOS otospiralin
PARK7 parkinson protein 7
PAX8 paired box 8
PDC phosducin
PHYH phytanoyl-CoA 2-hydroxylase
PMP22 peripheral myelin protein 22
PRX periaxin
RGS14 regulator of G-protein signaling 14
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
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5
SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8
SLC26A5 solute carrier family 26 (anion exchanger), member 5
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SOX2 SRY (sex determining region Y)-box 2
TECTA tectorin alpha
TECTB tectorin beta
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
THRB thyroid hormone receptor, beta
TRPV1 transient receptor potential cation channel, subfamily V, member 1