abnormal synapse morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the membrane junction site of a nerve cell to a target cell, such as another nerve cell, an effector cell, or a sensory receptor cell; transmission of nerve impulses may be mediated by chemical or by electrical means (Mammalian Phenotype Ontology, MP_0009538)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009538
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Genes

118 gene mutations causing the abnormal synapse morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AFG3L2 AFG3-like AAA ATPase 2
AGRN agrin
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
AP3M2 adaptor-related protein complex 3, mu 2 subunit
APOE apolipoprotein E
ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
BASP1 brain abundant, membrane attached signal protein 1
BSN bassoon presynaptic cytomatrix protein
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F 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
CAMK2A calcium/calmodulin-dependent protein kinase II alpha
CAPRIN1 cell cycle associated protein 1
CBLN1 cerebellin 1 precursor
CHAT choline O-acetyltransferase
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CLCN3 chloride channel, voltage-sensitive 3
CLIP3 CAP-GLY domain containing linker protein 3
CLP1 cleavage and polyadenylation factor I subunit 1
CNTNAP4 contactin associated protein-like 4
COL13A1 collagen, type XIII, alpha 1
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
DACT1 dishevelled-binding antagonist of beta-catenin 1
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DCTN1 dynactin 1
DGKB diacylglycerol kinase, beta 90kDa
DMD dystrophin
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6
DNM1 dynamin 1
DOK7 docking protein 7
DST dystonin
DTNA dystrobrevin, alpha
ECEL1 endothelin converting enzyme-like 1
EDNRB endothelin receptor type B
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
EGR2 early growth response 2
EN1 engrailed homeobox 1
ERC2 ELKS/RAB6-interacting/CAST family member 2
FBXO45 F-box protein 45
FGF22 fibroblast growth factor 22
FGF7 fibroblast growth factor 7
FGFR2 fibroblast growth factor receptor 2
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GARS glycyl-tRNA synthetase
GDI1 GDP dissociation inhibitor 1
GPHN gephyrin
GRID2 glutamate receptor, ionotropic, delta 2
HSPG2 heparan sulfate proteoglycan 2
IGHMBP2 immunoglobulin mu binding protein 2
KALRN kalirin, RhoGEF kinase
KIF1A kinesin family member 1A
KIF1B kinesin family member 1B
KY kyphoscoliosis peptidase
LAMB2 laminin, beta 2 (laminin S)
LDLR low density lipoprotein receptor
LGALS1 lectin, galactoside-binding, soluble, 1
LRP4 low density lipoprotein receptor-related protein 4
LRRTM1 leucine rich repeat transmembrane neuronal 1
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
MADD MAP-kinase activating death domain
MAP6 microtubule-associated protein 6
MECP2 methyl CpG binding protein 2
MMP3 matrix metallopeptidase 3
MNX1 motor neuron and pancreas homeobox 1
MUSK muscle, skeletal, receptor tyrosine kinase
MYCBP2 MYC binding protein 2, E3 ubiquitin protein ligase
NBEA neurobeachin
NEDD4 neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase
NES nestin
NRG1 neuregulin 1
NRN1 neuritin 1
NRXN3 neurexin 3
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
PCDH17 protocadherin 17
PCLO piccolo presynaptic cytomatrix protein
PFN2 profilin 2
PRKCQ protein kinase C, theta
RAPSN receptor-associated protein of the synapse
RER1 retention in endoplasmic reticulum sorting receptor 1
RET ret proto-oncogene
RND3 Rho family GTPase 3
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCYL1 SCY1-like 1 (S. cerevisiae)
SHANK3 SH3 and multiple ankyrin repeat domains 3
SKOR2 SKI family transcriptional corepressor 2
SLC17A6 solute carrier family 17 (vesicular glutamate transporter), member 6
SLC17A7 solute carrier family 17 (vesicular glutamate transporter), member 7
SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC30A3 solute carrier family 30 (zinc transporter), member 3
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5
SMN1 survival of motor neuron 1, telomeric
SNTA1 syntrophin, alpha 1
STON2 stonin 2
STX1A syntaxin 1A (brain)
STX1B syntaxin 1B
SYDE1 synapse defective 1, Rho GTPase, homolog 1 (C. elegans)
SYN2 synapsin II
SYNE1 spectrin repeat containing, nuclear envelope 1
TNR tenascin R
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UNC13A unc-13 homolog A (C. elegans)
UNC13B unc-13 homolog B (C. elegans)
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
UTP14C UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)
UTRN utrophin
ZDHHC17 zinc finger, DHHC-type containing 17