abnormal paired-pulse facilitation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description defects in the enhanced response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to lack of increase of neurotransmitter release at the second stimulus (Mammalian Phenotype Ontology, MP_0002918)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002918
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Genes

44 gene mutations causing the abnormal paired-pulse facilitation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADD2 adducin 2 (beta)
ATXN1 ataxin 1
BACE1 beta-site APP-cleaving enzyme 1
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CADPS2 Ca++-dependent secretion activator 2
CAMK2A calcium/calmodulin-dependent protein kinase II alpha
CHRD chordin
CHRM1 cholinergic receptor, muscarinic 1
CNR1 cannabinoid receptor 1 (brain)
CSPG5 chondroitin sulfate proteoglycan 5 (neuroglycan C)
DLG4 discs, large homolog 4 (Drosophila)
EHMT1 euchromatic histone-lysine N-methyltransferase 1
FBXL20 F-box and leucine-rich repeat protein 20
FGF22 fibroblast growth factor 22
FOXP2 forkhead box P2
GDI1 GDP dissociation inhibitor 1
GRIK2 glutamate receptor, ionotropic, kainate 2
GRIK3 glutamate receptor, ionotropic, kainate 3
GRM4 glutamate receptor, metabotropic 4
HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
LYNX1 Ly6/neurotoxin 1
MAPK9 mitogen-activated protein kinase 9
MAPT microtubule-associated protein tau
PFN2 profilin 2
PTN pleiotrophin
PTPRD protein tyrosine phosphatase, receptor type, D
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RIMS1 regulating synaptic membrane exocytosis 1
SCT secretin
SLC8A2 solute carrier family 8 (sodium/calcium exchanger), member 2
SNAP25 synaptosomal-associated protein, 25kDa
SNPH syntaphilin
SPRED1 sprouty-related, EVH1 domain containing 1
STON2 stonin 2
STX1A syntaxin 1A (brain)
STXBP5 syntaxin binding protein 5 (tomosyn)
SYN1 synapsin I
SYT2 synaptotagmin II
TNIK TRAF2 and NCK interacting kinase
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UNC13C unc-13 homolog C (C. elegans)
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
VDAC3 voltage-dependent anion channel 3
Funding