Disease table of SEIZURES, BENIGN FAMILIAL NEONATAL OMIM ID: PS121200

Gene-disease associations table

GeneAssociated with SEIZURES, BENIGN FAMILIAL NEONATAL inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
KCNQ2ClinVar, OMIM, HUMSAVARHGNC link20q13.332PS308350, PS121200
KCNQ3ClinVar, OMIM, HUMSAVARHGNC link8q24.221PS121200

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
SP1NO460ITGB3, KRT14, CDK4, UGCG, PGR, GAST, PSIP1, ITGA5, PTHLH, ITGB2, CD44, HLA-G, LTF, IGFBP4, NF1, ACVRL1, GSTP1, CYP2F1, CA9, MMRN1, HSD17B2, STK11, FGFR3, CD28, UGT1A4, FASLG, DNASE2, KRT19, SLC39A1, ALOX5, PDGFB, PTGS2, CYP7A1, TNF, TPMT, HSD11B2, FMR1, CHI3L1, PCK1, DMRT1, RARA, RASSF1, CYP3A7, BRD7, CYP17A1, LPL, CXADR, PADI3, ABCA1, NR5A1, COL11A2, IRF5, XIAP, BACE1, STAR, TBX21, BSG, APP, MDM2, COMP, ALOX12, CHRNB4, SNAP25, MTA1, CCK, DDB2, CIC, ACAN, KIT, MAT2A, SERPINB5, CDH2, ICAM1, SLC29A1, USP7, SLC5A8, HTR1A, REST, IGF2, APOC3, APAF1, ABCG2, IFNGR1, CRMP1, SLC7A5, PDGFC, HNF4A, ATP2C1, MICA, EAPP, TNFRSF10B, KRT5, MACROD1, ERVW-1, CD151, ELF4, MMP28, POLD2, DNMT1, MAOB, CBS, E2F1, KCNQ3, COL18A1, HIST2H4A, RPS3A, IL10, C4A, CYP3A5, ST6GAL1, CD99, BCL2, SLC15A1, IL6, ADAM10, KRT16, POLE2, MUC6, CBFB, ACO1, DCK, CAV1, MIF, DNMT3A, HMGA2, PDIA2, B4GALT1, GJA1, PPL, SLC13A4, AGTR1, PTGIR, CETP, SLC2A2, CYP27A1, F2R, BLMH, ADIPOQ, CENPH, OPRM1, BAG2, MPO, WRN, CDK6, PTTG1, YY1, CD2AP, TBXA2R, TGM4, PRSS50, HSD17B11, HCN2, MYCN, F3, ID4, CDKN1A, SLC5A1, SERPINE1, C1QBP, SOX3, EGR1, TF, RETN, SYP, RORA, NDUFV1, C4B, SNAPC1, TGFBR2, MME, GATA3, DPYSL2, CXCL14, SPRY2, ABCB8, COX4I1, SCTR, UGDH, HBEGF, PLAT, FOS, XPC, MUC5AC, HYAL1, BRCA1, NOS1, KCTD11, HCN4, ASPN, OXTR, COL1A1, TLR2, ALOX15B, ITGAV, IL5, SLC9A2, SIRT1, FGL2, KLF8, KCNQ2, UGT2B15, FOXM1, TEC, CHST4, TINF2, SLC19A3, KIF2C, ADAM23, PTGES, DNMT3B, GCLC, THBD, GFER, ADRBK1, TGFB1, SLC25A20, TK1, PRM1, CXCL1, APOE, PDE6A, TICAM1, KCNH2, TERF2, CENPW, NFKB1, ITGA2, PCYT1A, SIGIRR, IRS2, SP3, GIPR, SCNN1B, PTN, PTEN, NDUFV2, INSR, AGT, ME1, ATP2A2, HAS2, CYP19A1, HTT, MAT2B, PRNP, MNDA, SLC9A3, ADAM17, BAX, SLC3A2, UTRN, SPN, PAX6, SMARCA1, IL2, CREM, MMP9, ENG, CHGA, MUC4, ESR1, AHR, ATM, NFKB2, COL7A1, CD97, EPO, TFPI2, POR, DRG2, ELMO3, CAT, CYP3A4, LOXL4, BDKRB1, WAS, PNOC, LDHC, ADH6, CDC42BPG, NKX2-1, CYP1B1, TAF7, PLAUR, MMP2, MMP11, APLNR, UBC, GM2A, FGFR1, PLAA, TIMP1, TNFSF14, PTK6, KISS1, CDKN2B, COL2A1, BTK, ITGAX, HBZ, CREB1, MMP14, MICB, LEP, FOLR1, ATP2A3, SNRPN, ADA, PSEN1, SPP1, TNNI3, NOL7, VEGFA, CSNK2A1, VAMP2, NQO2, LOR, EPOR, HSD3B1, ISG20, MET, F10, CD1D, FBLN1, APLP1, CCL5, FAS, ERBB2, COPS5, MYBL1, RECQL4, CD83, SOD1, HOXB7, WIF1, SLC39A8, CES1, IL5RA, APEX1, ITGAD, TNC, KDR, CLDN3, NR4A1, MYC, RELA, RECK, PGLYRP2, LRP5, MYBL2, ADRA2B, VIM, EGFR, GDA, SOD2, FES, LDHA, CD14, AMACR, IGFBP1, SLC19A1, IMPDH2, PDE6B, LCAT, PPP2R2B, FBN1, CERS2, EPAS1, KLK3, FLNA, CCL2, HMGA1, BACE2, EDNRB, FABP6, HPR, IGFBP3, PON1, APOA1, NPY, B4GALT5, FXR2, CCND2, STARD3, IL2RB, DDB1, SQSTM1, TERT, HGF, TNFSF10, KRT18, TYMP, MUC2, MPG, ABCC3, HDAC4, TCN2, TYMS, DBF4, CASP3, SGPL1, GH2, EGF, CCND1, GPR39, IVL, AR, NT5E, LYZ, SMPD1, PHGDH, CDKN2A, MGST1, CCNA2, POLD1, NOS3, ABCB1, DHCR24, LDLR, HSD17B1, SOCS1, FBP1, LTC4S, CTSL, BIRC5, HRAS, PDHA1, TIMP2, P4HA1, TMPO, ARF6, CDKN1B, SLC31A1, SOX9, PLAU, RGN, CTSB, EZR, TIMP3, F7, SREBF1, SKP2, SCT, VDR, ADRB3, CXCL5, LMO4, CD163, MCTS1, ATF2, CTGF, SRC, P2RX4, TGFA, IL3, CYP7B1, ADRA1A, GRIN1, SRY, ODC12KCNQ3, KCNQ2
RESTNO29SCG3, KCNN4, TPH2, NRP1, AVP, GLRA1, TUBB3, CACNA1H, OPRM1, CARTPT, SYN1, CHGA, GABRB3, CD59, GRIN2B, KCNQ3, TAC3, VGF, VIP, BDNF, LIN28A, CHGB, GJD2, PCSK1, PENK, TAC1, GRIN1, DYRK1A, KCNQ22KCNQ3, KCNQ2
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
KCNQ2YES2SP1, REST0
KCNQ3YES2SP1, REST0
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
KCNQ2KCNQ3Yes0

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
KCNQ2KCNQ3Yesbinding48KCNB2, KCND2, NFASC, ANK1, KCNG3, KCNH3, SPTBN4, KCNAB1, KCNQ5, KCNG1, KCNH1, KCNS2, SPTBN1, KCNA5, SPTAN1, SPTA1, KCNA1, KCND3, KCNG2, KCNH4, KCNS1, KCNC1, KCNAB2, KCNF1, KCNA7, SPTBN5, KCNA3, KCNC2, KCNH8, KCNH5, NRCAM, KCNS3, SPTBN2, KCNV2, KCNH6, KCNQ4, KCNB1, KCNAB3, KCNV1, KCNA10, KCNA2, SPTB, KCNG4, KCNC3, KCNC4, KCNA4, KCNA6, KCNH7

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Gene1Gene2InteractionNumber of common interactorsCommon genes in interaction
KCNQ2KCNQ3Yes6CALM1, CALM1; CALM2; CALM3, CALM3, CALM2, KCNQ3, KCNQ2

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Cholinergic synapsehsa047255.882KCNQ3, KCNQ2

NET-GE enrichment

Term New enriched termICP valueGenes
Nervous systemNEW3.770.021KCNQ3, KCNQ2
Cholinergic synapse (hsa04725) -5.880.001KCNQ3, KCNQ2
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
L1CAM interactionsR-HSA-3737606.192KCNQ3, KCNQ2
Potassium ChannelsR-HSA-12960716.352KCNQ3, KCNQ2
Interaction between L1 and AnkyrinsR-HSA-4450958.032KCNQ3, KCNQ2
Neuronal SystemR-HSA-1123164.822KCNQ3, KCNQ2
Voltage gated Potassium channelsR-HSA-12960727.562KCNQ3, KCNQ2
Axon guidanceR-HSA-4224753.932KCNQ3, KCNQ2
Developmental BiologyR-HSA-12667383.482KCNQ3, KCNQ2

NET-GE enrichment

Term New enriched termICP valueGenes
L1CAM interactions (R-HSA-373760) -6.190.001KCNQ3, KCNQ2
Potassium Channels (R-HSA-1296071) -6.350.001KCNQ3, KCNQ2
Interaction between L1 and Ankyrins (R-HSA-445095) -8.030.0KCNQ3, KCNQ2
Neuronal System (R-HSA-112316) -4.820.01KCNQ3, KCNQ2
Voltage gated Potassium channels (R-HSA-1296072) -7.560.0KCNQ3, KCNQ2
Axon guidance (R-HSA-422475) -3.930.034KCNQ3, KCNQ2
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
potassium channel activity (GO:0005267) 4.942KCNQ3, KCNQ2
cation channel activity (GO:0005261) 4.042KCNQ3, KCNQ2
binding (GO:0005488) 0.182KCNQ3, KCNQ2
substrate-specific channel activity (GO:0022838) 3.672KCNQ3, KCNQ2
transmembrane transporter activity (GO:0022857) 2.822KCNQ3, KCNQ2
voltage-gated cation channel activity (GO:0022843) 4.832KCNQ3, KCNQ2
delayed rectifier potassium channel activity (GO:0005251) 6.152KCNQ3, KCNQ2
metal ion transmembrane transporter activity (GO:0046873) 3.712KCNQ3, KCNQ2
protein binding (GO:0005515) 0.462KCNQ3, KCNQ2
transporter activity (GO:0005215) 2.572KCNQ3, KCNQ2
ion channel activity (GO:0005216) 3.712KCNQ3, KCNQ2
cation transmembrane transporter activity (GO:0008324) 3.322KCNQ3, KCNQ2
passive transmembrane transporter activity (GO:0022803) 3.62KCNQ3, KCNQ2
substrate-specific transmembrane transporter activity (GO:0022891) 2.92KCNQ3, KCNQ2
inorganic cation transmembrane transporter activity (GO:0022890) 3.492KCNQ3, KCNQ2
substrate-specific transporter activity (GO:0022892) 2.722KCNQ3, KCNQ2
ion transmembrane transporter activity (GO:0015075) 3.042KCNQ3, KCNQ2
voltage-gated channel activity (GO:0022832) 4.492KCNQ3, KCNQ2
monovalent inorganic cation transmembrane transporter activity (GO:0015077) 3.872KCNQ3, KCNQ2
channel activity (GO:0015267) 3.62KCNQ3, KCNQ2
gated channel activity (GO:0022836) 3.962KCNQ3, KCNQ2
voltage-gated potassium channel activity (GO:0005249) 5.242KCNQ3, KCNQ2
voltage-gated ion channel activity (GO:0005244) 4.492KCNQ3, KCNQ2
potassium ion transmembrane transporter activity (GO:0015079) 4.772KCNQ3, KCNQ2

NET-GE enrichment

Term New enriched termICP valueGenes
inorganic cation transmembrane transporter activity (GO:0022890) -3.490.023KCNQ3, KCNQ2
potassium channel activity (GO:0005267) -4.940.012KCNQ3, KCNQ2
substrate-specific channel activity (GO:0022838) -3.670.015KCNQ3, KCNQ2
cation channel activity (GO:0005261) -4.040.007KCNQ3, KCNQ2
ion channel activity (GO:0005216) -3.710.015KCNQ3, KCNQ2
cation transmembrane transporter activity (GO:0008324) -3.320.035KCNQ3, KCNQ2
voltage-gated channel activity (GO:0022832) -4.490.033KCNQ3, KCNQ2
monovalent inorganic cation transmembrane transporter activity (GO:0015077) -3.870.011KCNQ3, KCNQ2
channel activity (GO:0015267) -3.60.017KCNQ3, KCNQ2
voltage-gated cation channel activity (GO:0022843) -4.830.002KCNQ3, KCNQ2
voltage-gated potassium channel activity (GO:0005249) -5.240.006KCNQ3, KCNQ2
passive transmembrane transporter activity (GO:0022803) -3.60.017KCNQ3, KCNQ2
delayed rectifier potassium channel activity (GO:0005251) -6.150.0KCNQ3, KCNQ2
metal ion transmembrane transporter activity (GO:0046873) -3.710.015KCNQ3, KCNQ2
voltage-gated ion channel activity (GO:0005244) -4.490.033KCNQ3, KCNQ2
potassium ion transmembrane transporter activity (GO:0015079) -4.770.002KCNQ3, KCNQ2
gated channel activity (GO:0022836) -3.960.009KCNQ3, KCNQ2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
regulation of transport (GO:0051049) 2.242KCNQ3, KCNQ2
signaling (GO:0023052) 3.252KCNQ3, KCNQ2
regulation of ion transmembrane transport (GO:0034765) 3.772KCNQ3, KCNQ2
regulation of biological process (GO:0050789) 0.452KCNQ3, KCNQ2
regulation of ion transport (GO:0043269) 3.42KCNQ3, KCNQ2
regulation of localization (GO:0032879) 1.942KCNQ3, KCNQ2
cellular potassium ion transport (GO:0071804) 4.792KCNQ3, KCNQ2
potassium ion transmembrane transport (GO:0071805) 4.792KCNQ3, KCNQ2
localization (GO:0051179) 1.42KCNQ3, KCNQ2
biological regulation (GO:0065007) 0.392KCNQ3, KCNQ2
regulation of transmembrane transport (GO:0034762) 3.742KCNQ3, KCNQ2
inorganic ion transmembrane transport (GO:0098660) 3.382KCNQ3, KCNQ2
monovalent inorganic cation transport (GO:0015672) 3.742KCNQ3, KCNQ2
inorganic cation transmembrane transport (GO:0098662) 3.552KCNQ3, KCNQ2
transport (GO:0006810) 1.512KCNQ3, KCNQ2
potassium ion transport (GO:0006813) 4.682KCNQ3, KCNQ2
cation transport (GO:0006812) 3.112KCNQ3, KCNQ2
ion transport (GO:0006811) 2.662KCNQ3, KCNQ2
cellular process (GO:0009987) 0.262KCNQ3, KCNQ2
ion transmembrane transport (GO:0034220) 3.082KCNQ3, KCNQ2
single-organism transport (GO:0044765) 2.182KCNQ3, KCNQ2
single-organism cellular process (GO:0044763) 0.652KCNQ3, KCNQ2
chemical synaptic transmission (GO:0007268) 3.982KCNQ3, KCNQ2
cell-cell signaling (GO:0007267) 3.352KCNQ3, KCNQ2
cell communication (GO:0007154) 3.042KCNQ3, KCNQ2
establishment of localization (GO:0051234) 1.482KCNQ3, KCNQ2
transmembrane transport (GO:0055085) 2.722KCNQ3, KCNQ2
single-organism localization (GO:1902578) 2.092KCNQ3, KCNQ2
single organism signaling (GO:0044700) 3.252KCNQ3, KCNQ2
single-organism process (GO:0044699) 0.482KCNQ3, KCNQ2
anterograde trans-synaptic signaling (GO:0098916) 3.982KCNQ3, KCNQ2
metal ion transport (GO:0030001) 3.362KCNQ3, KCNQ2
cation transmembrane transport (GO:0098655) 3.432KCNQ3, KCNQ2
synaptic signaling (GO:0099536) 3.982KCNQ3, KCNQ2
trans-synaptic signaling (GO:0099537) 3.982KCNQ3, KCNQ2

NET-GE enrichment

Term New enriched termICP valueGenes
cation transmembrane transport (GO:0098655) -3.430.046KCNQ3, KCNQ2
regulation of ion transmembrane transport (GO:0034765) -3.770.014KCNQ3, KCNQ2
cellular potassium ion transport (GO:0071804) -4.790.03KCNQ3, KCNQ2
potassium ion transmembrane transport (GO:0071805) -4.790.03KCNQ3, KCNQ2
potassium ion transport (GO:0006813) -4.680.041KCNQ3, KCNQ2
synaptic transmission (GO:0007268) -3.980.027KCNQ3, KCNQ2
regulation of ion transport (GO:0043269) -3.40.037KCNQ3, KCNQ2
inorganic ion transmembrane transport (GO:0098660) -3.380.046KCNQ3, KCNQ2
axon guidance (GO:0007411) NEW4.440.019KCNQ3, KCNQ2
neuron projection guidance (GO:0097485) NEW4.430.019KCNQ3, KCNQ2
monovalent inorganic cation transport (GO:0015672) -3.740.024KCNQ3, KCNQ2
regulation of transmembrane transport (GO:0034762) -3.740.015KCNQ3, KCNQ2
inorganic cation transmembrane transport (GO:0098662) -3.550.032KCNQ3, KCNQ2
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
potassium channel complex (GO:0034705) 5.322KCNQ3, KCNQ2
ion channel complex (GO:0034702) 4.182KCNQ3, KCNQ2
cation channel complex (GO:0034703) 4.692KCNQ3, KCNQ2
intrinsic component of membrane (GO:0031224) 1.132KCNQ3, KCNQ2
integral component of membrane (GO:0016021) 1.142KCNQ3, KCNQ2
membrane (GO:0016020) 0.682KCNQ3, KCNQ2
neuron part (GO:0097458) 2.642KCNQ3, KCNQ2
plasma membrane part (GO:0044459) 1.952KCNQ3, KCNQ2
transmembrane transporter complex (GO:1902495) 4.062KCNQ3, KCNQ2
transporter complex (GO:1990351) 4.042KCNQ3, KCNQ2
voltage-gated potassium channel complex (GO:0008076) 5.342KCNQ3, KCNQ2
plasma membrane (GO:0005886) 1.392KCNQ3, KCNQ2
protein complex (GO:0043234) 1.512KCNQ3, KCNQ2
macromolecular complex (GO:0032991) 1.352KCNQ3, KCNQ2
axon initial segment (GO:0043194) 7.322KCNQ3, KCNQ2
cell projection part (GO:0044463) 2.972KCNQ3, KCNQ2
cell part (GO:0044464) 0.112KCNQ3, KCNQ2
plasma membrane protein complex (GO:0098797) 3.552KCNQ3, KCNQ2
membrane protein complex (GO:0098796) 2.842KCNQ3, KCNQ2
axon part (GO:0033267) 4.42KCNQ3, KCNQ2
node of Ranvier (GO:0033268) 7.092KCNQ3, KCNQ2
membrane part (GO:0044425) 0.952KCNQ3, KCNQ2

NET-GE enrichment

Term New enriched termICP valueGenes
transmembrane transporter complex (GO:1902495) -4.060.004KCNQ3, KCNQ2
axon initial segment (GO:0043194) -7.320.0KCNQ3, KCNQ2
cell projection part (GO:0044463) -2.970.027KCNQ3, KCNQ2
transporter complex (GO:1990351) -4.040.005KCNQ3, KCNQ2
voltage-gated potassium channel complex (GO:0008076) -5.340.004KCNQ3, KCNQ2
neuron part (GO:0097458) -2.640.045KCNQ3, KCNQ2
potassium channel complex (GO:0034705) -5.320.004KCNQ3, KCNQ2
ion channel complex (GO:0034702) -4.180.004KCNQ3, KCNQ2
cation channel complex (GO:0034703) -4.690.016KCNQ3, KCNQ2
axon part (GO:0033267) -4.40.001KCNQ3, KCNQ2
node of Ranvier (GO:0033268) -7.090.0KCNQ3, KCNQ2