abnormal neurotransmitter secretion Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the production or release of endogenous signaling molecules into a synaptic cleft; neurotransmitters are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell (Mammalian Phenotype Ontology, MP_0005445)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005445
Similar Terms
Downloads & Tools

Genes

48 gene mutations causing the abnormal neurotransmitter secretion phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADGRL1 adhesion G protein-coupled receptor L1
ADRA2A adrenoceptor alpha 2A
AP3D1 adaptor-related protein complex 3, delta 1 subunit
AP3M2 adaptor-related protein complex 3, mu 2 subunit
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CHAT choline O-acetyltransferase
CHRD chordin
CHRM5 cholinergic receptor, muscarinic 5
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
COL13A1 collagen, type XIII, alpha 1
DLG4 discs, large homolog 4 (Drosophila)
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1
GDI1 GDP dissociation inhibitor 1
GDNF glial cell derived neurotrophic factor
GFRA1 GDNF family receptor alpha 1
HRH3 histamine receptor H3
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2
MAPK9 mitogen-activated protein kinase 9
NOS1 nitric oxide synthase 1 (neuronal)
NOS3 nitric oxide synthase 3 (endothelial cell)
NR2F6 nuclear receptor subfamily 2, group F, member 6
NRTN neurturin
NRXN1 neurexin 1
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RET ret proto-oncogene
RORA RAR-related orphan receptor A
SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8
SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC32A1 solute carrier family 32 (GABA vesicular transporter), member 1
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SNAP25 synaptosomal-associated protein, 25kDa
SSTR1 somatostatin receptor 1
SSTR2 somatostatin receptor 2
STXBP1 syntaxin binding protein 1
SYN1 synapsin I
SYT1 synaptotagmin I
SYT2 synaptotagmin II
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UNC13A unc-13 homolog A (C. elegans)
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
VAMP2 vesicle-associated membrane protein 2 (synaptobrevin 2)