abnormal neuron physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any functional anomaly of the cells of the nervous system that receive, conduct, and transmit impulses (Mammalian Phenotype Ontology, MP_0004811)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004811
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Genes

426 gene mutations causing the abnormal neuron physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AATK apoptosis-associated tyrosine kinase
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary)
ADGRG1 adhesion G protein-coupled receptor G1
ADGRV1 adhesion G protein-coupled receptor V1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALG10 ALG10, alpha-1,2-glucosyltransferase
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
AMPH amphiphysin
APAF1 apoptotic peptidase activating factor 1
APC2 adenomatosis polyposis coli 2
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
ARHGAP1 Rho GTPase activating protein 1
ARX aristaless related homeobox
ASCL1 achaete-scute family bHLH transcription factor 1
ASS1 argininosuccinate synthase 1
ASTN1 astrotactin 1
ATOH1 atonal homolog 1 (Drosophila)
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
BAG6 BCL2-associated athanogene 6
BASP1 brain abundant, membrane attached signal protein 1
BAX BCL2-associated X protein
BBC3 BCL2 binding component 3
BBS1 Bardet-Biedl syndrome 1
BCL2L1 BCL2-like 1
BDNF brain-derived neurotrophic factor
BRAF B-Raf proto-oncogene, serine/threonine kinase
BSN bassoon presynaptic cytomatrix protein
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CADPS Ca++-dependent secretion activator
CADPS2 Ca++-dependent secretion activator 2
CALHM1 calcium homeostasis modulator 1
CALY calcyon neuron-specific vesicular protein
CAPRIN1 cell cycle associated protein 1
CASP12 caspase 12 (gene/pseudogene)
CASP2 caspase 2, apoptosis-related cysteine peptidase
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP6 caspase 6, apoptosis-related cysteine peptidase
CASP9 caspase 9, apoptosis-related cysteine peptidase
CAST calpastatin
CC2D1A coiled-coil and C2 domain containing 1A
CCDC7 coiled-coil domain containing 7
CCDC88A coiled-coil domain containing 88A
CCKAR cholecystokinin A receptor
CCL13 chemokine (C-C motif) ligand 13
CDH23 cadherin-related 23
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
CDON cell adhesion associated, oncogene regulated
CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3
CEND1 cell cycle exit and neuronal differentiation 1
CERS1 ceramide synthase 1
CFL1 cofilin 1 (non-muscle)
CHD7 chromodomain helicase DNA binding protein 7
CHRNA10 cholinergic receptor, nicotinic, alpha 10 (neuronal)
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHRNA9 cholinergic receptor, nicotinic, alpha 9 (neuronal)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CIT citron rho-interacting serine/threonine kinase
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
CLRN1 clarin 1
CNGA2 cyclic nucleotide gated channel alpha 2
CNGB1 cyclic nucleotide gated channel beta 1
CNR1 cannabinoid receptor 1 (brain)
CNTF ciliary neurotrophic factor
CNTNAP2 contactin associated protein-like 2
COQ9 coenzyme Q9
CPEB3 cytoplasmic polyadenylation element binding protein 3
CPLX1 complexin 1
CRMP1 collapsin response mediator protein 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CUX2 cut-like homeobox 2
CX3CL1 chemokine (C-X3-C motif) ligand 1
CX3CR1 chemokine (C-X3-C motif) receptor 1
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila)
DAGLA diacylglycerol lipase, alpha
DAGLB diacylglycerol lipase, beta
DAPK1 death-associated protein kinase 1
DBNL drebrin-like
DDIT3 DNA-damage-inducible transcript 3
DFFA DNA fragmentation factor, 45kDa, alpha polypeptide
DGCR8 DGCR8 microprocessor complex subunit
DMRTA2 DMRT-like family A2
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6
DNM1 dynamin 1
DOCK3 dedicator of cytokinesis 3
DPYSL5 dihydropyrimidinase-like 5
DRD1 dopamine receptor D1
DRD2 dopamine receptor D2
DST dystonin
DUSP1 dual specificity phosphatase 1
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYNC1LI1 dynein, cytoplasmic 1, light intermediate chain 1
EFNA5 ephrin-A5
EGLN3 egl-9 family hypoxia-inducible factor 3
EGR2 early growth response 2
ELAVL4 ELAV like neuron-specific RNA binding protein 4
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
ERBB3 erb-b2 receptor tyrosine kinase 3
ESPN espin
F2R coagulation factor II (thrombin) receptor
FAF1 Fas (TNFRSF6) associated factor 1
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FBXO45 F-box protein 45
FERD3L Fer3-like bHLH transcription factor
FEZF1 FEZ family zinc finger 1
FFAR1 free fatty acid receptor 1
FFAR3 free fatty acid receptor 3
FFAR4 free fatty acid receptor 4
FGF13 fibroblast growth factor 13
FGF2 fibroblast growth factor 2 (basic)
FGF22 fibroblast growth factor 22
FGF7 fibroblast growth factor 7
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR2 fibroblast growth factor receptor 2
FKRP fukutin related protein
FKTN fukutin
FLRT2 fibronectin leucine rich transmembrane protein 2
FMR1 fragile X mental retardation 1
FOXC1 forkhead box C1
FOXG1 forkhead box G1
FTH1 ferritin, heavy polypeptide 1
G3BP1 GTPase activating protein (SH3 domain) binding protein 1
GAL galanin/GMAP prepropeptide
GAN gigaxonin
GAP43 growth associated protein 43
GCLM glutamate-cysteine ligase, modifier subunit
GDPD5 glycerophosphodiester phosphodiesterase domain containing 5
GFRA3 GDNF family receptor alpha 3
GJB6 gap junction protein, beta 6, 30kDa
GLI3 GLI family zinc finger 3
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1
GNPAT glyceronephosphate O-acyltransferase
GPR37 G protein-coupled receptor 37 (endothelin receptor type B-like)
GPR37L1 G protein-coupled receptor 37 like 1
GPX1 glutathione peroxidase 1
GRASP GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein
GRIA2 glutamate receptor, ionotropic, AMPA 2
GRIA4 glutamate receptor, ionotropic, AMPA 4
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRM2 glutamate receptor, metabotropic 2
GRM3 glutamate receptor, metabotropic 3
GRN granulin
GSK3B glycogen synthase kinase 3 beta
GSTM5 glutathione S-transferase mu 5
GTF2IRD1 GTF2I repeat domain containing 1
HAX1 HCLS1 associated protein X-1
HCN2 hyperpolarization activated cyclic nucleotide gated potassium channel 2
HCRTR2 hypocretin (orexin) receptor 2
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HIPK2 homeodomain interacting protein kinase 2
HIST1H2BJ histone cluster 1, H2bj
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLTF helicase-like transcription factor
HPCA hippocalcin
HPN hepsin
HPRT1 hypoxanthine phosphoribosyltransferase 1
HRK harakiri, BCL2 interacting protein
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
HTRA2 HtrA serine peptidase 2
HTT huntingtin
HYOU1 hypoxia up-regulated 1
ID2 inhibitor of DNA binding 2, dominant negative helix-loop-helix protein
IGF1 insulin-like growth factor 1 (somatomedin C)
IL10 interleukin 10
IL34 interleukin 34
IL6 interleukin 6
INSM1 insulinoma-associated 1
ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide)
ITGA6 integrin, alpha 6
ITSN1 intersectin 1 (SH3 domain protein)
JUN jun proto-oncogene
KALRN kalirin, RhoGEF kinase
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KCNJ16 potassium channel, inwardly rectifying subfamily J, member 16
KCNK18 potassium channel, two pore domain subfamily K, member 18
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
KCNQ4 potassium channel, voltage gated KQT-like subfamily Q, member 4
KDM2B lysine (K)-specific demethylase 2B
KIDINS220 kinase D-interacting substrate, 220kDa
KIF14 kinesin family member 14
KIF17 kinesin family member 17
KIF1A kinesin family member 1A
KIF1B kinesin family member 1B
KIF20B kinesin family member 20B
KIF26A kinesin family member 26A
KIF2A kinesin heavy chain member 2A
KLC1 kinesin light chain 1
KRAS Kirsten rat sarcoma viral oncogene homolog
KY kyphoscoliosis peptidase
LAMA2 laminin, alpha 2
LBR lamin B receptor
LHX5 LIM homeobox 5
LHX6 LIM homeobox 6
LIG4 ligase IV, DNA, ATP-dependent
LLGL1 lethal giant larvae homolog 1 (Drosophila)
LMNB1 lamin B1
LMNB2 lamin B2
LRP8 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor
LTN1 listerin E3 ubiquitin protein ligase 1
LYNX1 Ly6/neurotoxin 1
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MAGED1 melanoma antigen family D1
MAGOH mago-nashi homolog, proliferation-associated (Drosophila)
MAOB monoamine oxidase B
MAP3K12 mitogen-activated protein kinase kinase kinase 12
MAPK10 mitogen-activated protein kinase 10
MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MAPT microtubule-associated protein tau
MAVS mitochondrial antiviral signaling protein
MBOAT7 membrane bound O-acyltransferase domain containing 7
MBP myelin basic protein
MCPH1 microcephalin 1
MDGA1 MAM domain containing glycosylphosphatidylinositol anchor 1
MED1 mediator complex subunit 1
MET MET proto-oncogene, receptor tyrosine kinase
MFN2 mitofusin 2
MIR206 microRNA 206
MIR34A microRNA 34a
MKS1 Meckel syndrome, type 1
MMP9 matrix metallopeptidase 9
MUTYH mutY homolog
MYH10 myosin, heavy chain 10, non-muscle
MYO1C myosin IC
MYO7A myosin VIIA
NAPB N-ethylmaleimide-sensitive factor attachment protein, beta
NCOR2 nuclear receptor corepressor 2
NDE1 nudE neurodevelopment protein 1
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NEFM neurofilament, medium polypeptide
NEIL3 nei endonuclease VIII-like 3 (E. coli)
NEUROG2 neurogenin 2
NGFR nerve growth factor receptor
NOS1 nitric oxide synthase 1 (neuronal)
NOS3 nitric oxide synthase 3 (endothelial cell)
NOVA1 neuro-oncological ventral antigen 1
NOX4 NADPH oxidase 4
NPAS4 neuronal PAS domain protein 4
NPPC natriuretic peptide C
NR2E1 nuclear receptor subfamily 2, group E, member 1
NR4A3 nuclear receptor subfamily 4, group A, member 3
NRP1 neuropilin 1
NRP2 neuropilin 2
NTF4 neurotrophin 4
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
OGG1 8-oxoguanine DNA glycosylase
OLIG2 oligodendrocyte lineage transcription factor 2
OLIG3 oligodendrocyte transcription factor 3
ORAI1 ORAI calcium release-activated calcium modulator 1
OTOF otoferlin
OTOS otospiralin
P2RX2 purinergic receptor P2X, ligand gated ion channel, 2
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAK4 p21 protein (Cdc42/Rac)-activated kinase 4
PANX1 pannexin 1
PARK2 parkin RBR E3 ubiquitin protein ligase
PARK7 parkinson protein 7
PARL presenilin associated, rhomboid-like
PARP1 poly (ADP-ribose) polymerase 1
PAX6 paired box 6
PAX8 paired box 8
PDZD7 PDZ domain containing 7
PERP PERP, TP53 apoptosis effector
PEX11B peroxisomal biogenesis factor 11 beta
PEX5L peroxisomal biogenesis factor 5-like
PEX7 peroxisomal biogenesis factor 7
PHOX2B paired-like homeobox 2b
PINK1 PTEN induced putative kinase 1
PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
PIRT phosphoinositide-interacting regulator of transient receptor potential channels
PITX2 paired-like homeodomain 2
PITX3 paired-like homeodomain 3
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLAUR plasminogen activator, urokinase receptor
PLG plasminogen
PLXNA2 plexin A2
PLXNB2 plexin B2
PLXNC1 plexin C1
POLB polymerase (DNA directed), beta
POMC proopiomelanocortin
POMK protein-O-mannose kinase
POU4F2 POU class 4 homeobox 2
PPP1R9A protein phosphatase 1, regulatory subunit 9A
PPP1R9B protein phosphatase 1, regulatory subunit 9B
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRLR prolactin receptor
PRNP prion protein
PRSS12 protease, serine, 12 (neurotrypsin, motopsin)
PSAP prosaposin
PSEN1 presenilin 1
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTPRQ protein tyrosine phosphatase, receptor type, Q
PTPRS protein tyrosine phosphatase, receptor type, S
PURA purine-rich element binding protein A
RAG1 recombination activating gene 1
RAPGEF3 Rap guanine nucleotide exchange factor (GEF) 3
RASD1 RAS, dexamethasone-induced 1
RB1 retinoblastoma 1
RBL1 retinoblastoma-like 1
RBL2 retinoblastoma-like 2
REL v-rel avian reticuloendotheliosis viral oncogene homolog
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RELN reelin
RET ret proto-oncogene
RGS14 regulator of G-protein signaling 14
RNF7 ring finger protein 7
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
RORA RAR-related orphan receptor A
RPS6KA5 ribosomal protein S6 kinase, 90kDa, polypeptide 5
RPS7 ribosomal protein S7
S1PR1 sphingosine-1-phosphate receptor 1
SARM1 sterile alpha and TIR motif containing 1
SCARB2 scavenger receptor class B, member 2
SCYL1 SCY1-like 1 (S. cerevisiae)
SDCCAG8 serologically defined colon cancer antigen 8
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEMA3F sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F
SEMA4C sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C
SHANK3 SH3 and multiple ankyrin repeat domains 3
SIM1 single-minded family bHLH transcription factor 1
SIX1 SIX homeobox 1
SKOR2 SKI family transcriptional corepressor 2
SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8
SLC18A1 solute carrier family 18 (vesicular monoamine transporter), member 1
SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2
SLC22A3 solute carrier family 22 (organic cation transporter), member 3
SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4
SLC26A5 solute carrier family 26 (anion exchanger), member 5
SLC4A10 solute carrier family 4, sodium bicarbonate transporter, member 10
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5
SLC8A2 solute carrier family 8 (sodium/calcium exchanger), member 2
SLITRK6 SLIT and NTRK-like family, member 6
SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SNCG synuclein, gamma (breast cancer-specific protein 1)
SNPH syntaphilin
SOX1 SRY (sex determining region Y)-box 1
SOX11 SRY (sex determining region Y)-box 11
SPAST spastin
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SPP1 secreted phosphoprotein 1
SRR serine racemase
STAT1 signal transducer and activator of transcription 1, 91kDa
STIM1 stromal interaction molecule 1
STIM2 stromal interaction molecule 2
STK25 serine/threonine kinase 25
STK39 serine threonine kinase 39
STON2 stonin 2
STRC stereocilin
STX1A syntaxin 1A (brain)
STX1B syntaxin 1B
SUMF1 sulfatase modifying factor 1
SURF1 surfeit 1
SYN1 synapsin I
SYNGAP1 synaptic Ras GTPase activating protein 1
SYT1 synaptotagmin I
TACR1 tachykinin receptor 1
TAL1 T-cell acute lymphocytic leukemia 1
TDO2 tryptophan 2,3-dioxygenase
TDP1 tyrosyl-DNA phosphodiesterase 1
TECTA tectorin alpha
TERT telomerase reverse transcriptase
TET1 tet methylcytosine dioxygenase 1
TGFB3 transforming growth factor, beta 3
THRB thyroid hormone receptor, beta
TLR2 toll-like receptor 2
TLR3 toll-like receptor 3
TLR4 toll-like receptor 4
TMC1 transmembrane channel-like 1
TMC2 transmembrane channel-like 2
TNFRSF19 tumor necrosis factor receptor superfamily, member 19
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TOP2B topoisomerase (DNA) II beta 180kDa
TOR1A torsin family 1, member A (torsin A)
TP53 tumor protein p53
TP53BP2 tumor protein p53 binding protein 2
TP73 tumor protein p73
TRIO trio Rho guanine nucleotide exchange factor
TRIOBP TRIO and F-actin binding protein
TRPA1 transient receptor potential cation channel, subfamily A, member 1
TRPC5 transient receptor potential cation channel, subfamily C, member 5
TRPM3 transient receptor potential cation channel, subfamily M, member 3
TRPM8 transient receptor potential cation channel, subfamily M, member 8
TRPV1 transient receptor potential cation channel, subfamily V, member 1
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TUBA1A tubulin, alpha 1a
TUBB2B tubulin, beta 2B class IIb
UBE2K ubiquitin-conjugating enzyme E2K
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
UNC13A unc-13 homolog A (C. elegans)
UNC5A unc-5 homolog A (C. elegans)
UNC5C unc-5 homolog C (C. elegans)
UNC5D unc-5 homolog D (C. elegans)
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
VEGFA vascular endothelial growth factor A
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)
WASF1 WAS protein family, member 1
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4
XRCC5 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)
XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZBTB18 zinc finger and BTB domain containing 18
ZDHHC13 zinc finger, DHHC-type containing 13
ZDHHC17 zinc finger, DHHC-type containing 17
ZNF423 zinc finger protein 423