abnormal synaptic depression Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description changes in the duration of the reduction of effectiveness of synaptic connections between neurons and target after repetitive stimulation (Mammalian Phenotype Ontology, MP_0002915)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002915
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84 gene mutations causing the abnormal synaptic depression phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADCY8 adenylate cyclase 8 (brain)
ADORA1 adenosine A1 receptor
AKAP5 A kinase (PRKA) anchor protein 5
ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9
ATAD1 ATPase family, AAA domain containing 1
BACE1 beta-site APP-cleaving enzyme 1
BSN bassoon presynaptic cytomatrix protein
CALY calcyon neuron-specific vesicular protein
CAMK2A calcium/calmodulin-dependent protein kinase II alpha
CAMK2B calcium/calmodulin-dependent protein kinase II beta
CAMK4 calcium/calmodulin-dependent protein kinase IV
CBLN1 cerebellin 1 precursor
CD247 CD247 molecule
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35)
CHRM1 cholinergic receptor, muscarinic 1
CNR1 cannabinoid receptor 1 (brain)
CPEB3 cytoplasmic polyadenylation element binding protein 3
CSPG5 chondroitin sulfate proteoglycan 5 (neuroglycan C)
DAGLA diacylglycerol lipase, alpha
DISC1 disrupted in schizophrenia 1
DPYSL5 dihydropyrimidinase-like 5
DRD2 dopamine receptor D2
EFNB3 ephrin-B3
FGF22 fibroblast growth factor 22
FMR1 fragile X mental retardation 1
FOXP2 forkhead box P2
GFAP glial fibrillary acidic protein
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GRIA1 glutamate receptor, ionotropic, AMPA 1
GRIA2 glutamate receptor, ionotropic, AMPA 2
GRID2 glutamate receptor, ionotropic, delta 2
GRID2IP glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
GRM1 glutamate receptor, metabotropic 1
GRM2 glutamate receptor, metabotropic 2
IQSEC1 IQ motif and Sec7 domain 1
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KIF17 kinesin family member 17
LAMA2 laminin, alpha 2
LEPR leptin receptor
LRRC7 leucine rich repeat containing 7
MYO5A myosin VA (heavy chain 12, myoxin)
NLGN3 neuroligin 3
NOS1 nitric oxide synthase 1 (neuronal)
NRGN neurogranin (protein kinase C substrate, RC3)
PARK7 parkinson protein 7
PCDH17 protocadherin 17
PCLO piccolo presynaptic cytomatrix protein
PICK1 protein interacting with PRKCA 1
PINK1 PTEN induced putative kinase 1
PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
PLAT plasminogen activator, tissue
PLCB4 phospholipase C, beta 4
PPP1R9B protein phosphatase 1, regulatory subunit 9B
PRKACB protein kinase, cAMP-dependent, catalytic, beta
PRKAR1B protein kinase, cAMP-dependent, regulatory, type I, beta
PTPN4 protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)
RAB3A RAB3A, member RAS oncogene family
RALBP1 ralA binding protein 1
RARB retinoic acid receptor, beta
RAVER1 ribonucleoprotein, PTB-binding 1
RIMS1 regulating synaptic membrane exocytosis 1
RYR3 ryanodine receptor 3
SHANK2 SH3 and multiple ankyrin repeat domains 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SLC24A2 solute carrier family 24 (sodium/potassium/calcium exchanger), member 2
SLC8A2 solute carrier family 8 (sodium/calcium exchanger), member 2
SORCS3 sortilin-related VPS10 domain containing receptor 3
SPRED1 sprouty-related, EVH1 domain containing 1
ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4
STX1A syntaxin 1A (brain)
SYN1 synapsin I
SYN2 synapsin II
SYN3 synapsin III
SYNJ1 synaptojanin 1
SYT1 synaptotagmin I
TRPV1 transient receptor potential cation channel, subfamily V, member 1
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UNC13A unc-13 homolog A (C. elegans)
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
VGF VGF nerve growth factor inducible
WASF1 WAS protein family, member 1
WWC1 WW and C2 domain containing 1