Cluster composition

Functions

CategoryNameIntersectionWithQueryPValueGenesInTermGenesInQueryGenesInTermInQueryID
GeneOntologyMolecularFunctionCTP synthase activity

CTPS2 CTPS1

6.82e-072172GO:0003883
GeneOntologyMolecularFunctionaspartic endopeptidase activity, intramembrane cleaving

SPPL3 NCSTN

1.90e-058172GO:0042500
GeneOntologyMolecularFunctionsodium ion binding

SCN1A SCN3A

6.17e-0514172GO:0031402
GeneOntologyMolecularFunctionvoltage-gated sodium channel activity

SCN1A SCN3A

2.19e-0426172GO:0005248
GeneOntologyMolecularFunctionalkali metal ion binding

SCN1A SCN3A

2.19e-0426172GO:0031420
GeneOntologyMolecularFunctionsodium ion transmembrane transporter activity

SLC9C1 SCN1A SCN3A

3.84e-04171173GO:0015081
GeneOntologyMolecularFunctionaspartic-type endopeptidase activity

SPPL3 NCSTN

4.46e-0437172GO:0004190
GeneOntologyMolecularFunctionaspartic-type peptidase activity

SPPL3 NCSTN

4.71e-0438172GO:0070001
GeneOntologyMolecularFunctionmonoatomic ion channel activity

SLC9C1 SCN1A PIEZO1 SCN3A

5.17e-04459174GO:0005216
GeneOntologyMolecularFunctionchannel activity

SLC9C1 SCN1A PIEZO1 SCN3A

8.56e-04525174GO:0015267
GeneOntologyMolecularFunctionpassive transmembrane transporter activity

SLC9C1 SCN1A PIEZO1 SCN3A

8.62e-04526174GO:0022803
GeneOntologyMolecularFunctionsodium channel activity

SCN1A SCN3A

8.82e-0452172GO:0005272
GeneOntologyMolecularFunctionligase activity, forming carbon-nitrogen bonds

CTPS2 CTPS1

9.16e-0453172GO:0016879
GeneOntologyMolecularFunctionmonoatomic cation transmembrane transporter activity

SLC9C1 SCN1A PIEZO1 SCN3A

2.04e-03664174GO:0008324
GeneOntologyMolecularFunctionmonoatomic cation channel activity

SCN1A PIEZO1 SCN3A

2.86e-03343173GO:0005261
GeneOntologyMolecularFunctionmonoatomic ion transmembrane transporter activity

SLC9C1 SCN1A PIEZO1 SCN3A

3.88e-03793174GO:0015075
GeneOntologyMolecularFunctionmetal ion transmembrane transporter activity

SLC9C1 SCN1A SCN3A

6.69e-03465173GO:0046873
GeneOntologyMolecularFunctionligase activity

CTPS2 CTPS1

9.42e-03174172GO:0016874
GeneOntologyMolecularFunctioninorganic cation transmembrane transporter activity

SLC9C1 SCN1A SCN3A

1.51e-02627173GO:0022890
GeneOntologyMolecularFunctiontransmembrane transporter activity

SLC9C1 SCN1A PIEZO1 SCN3A

1.55e-021180174GO:0022857
GeneOntologyBiologicalProcess'de novo' CTP biosynthetic process

CTPS2 CTPS1

6.39e-072172GO:0044210
GeneOntologyBiologicalProcesspyrimidine nucleobase biosynthetic process

CTPS2 CTPS1

1.79e-058172GO:0019856
GeneOntologyBiologicalProcessCTP biosynthetic process

CTPS2 CTPS1

6.67e-0515172GO:0006241
GeneOntologyBiologicalProcesspyrimidine ribonucleoside triphosphate biosynthetic process

CTPS2 CTPS1

7.62e-0516172GO:0009209
GeneOntologyBiologicalProcessCTP metabolic process

CTPS2 CTPS1

8.63e-0517172GO:0046036
GeneOntologyBiologicalProcessnucleobase biosynthetic process

CTPS2 CTPS1

9.71e-0518172GO:0046112
GeneOntologyBiologicalProcesspyrimidine ribonucleoside triphosphate metabolic process

CTPS2 CTPS1

1.08e-0419172GO:0009208
GeneOntologyBiologicalProcesspyrimidine nucleoside triphosphate biosynthetic process

CTPS2 CTPS1

1.20e-0420172GO:0009148
GeneOntologyBiologicalProcesspyrimidine nucleobase metabolic process

CTPS2 CTPS1

1.46e-0422172GO:0006206
GeneOntologyBiologicalProcesspyrimidine ribonucleotide biosynthetic process

CTPS2 CTPS1

1.90e-0425172GO:0009220
GeneOntologyBiologicalProcesspyrimidine nucleoside triphosphate metabolic process

CTPS2 CTPS1

1.90e-0425172GO:0009147
GeneOntologyBiologicalProcessglutamine metabolic process

CTPS2 CTPS1

2.74e-0430172GO:0006541
GeneOntologyBiologicalProcesspyrimidine nucleotide biosynthetic process

CTPS2 CTPS1

3.33e-0433172GO:0006221
GeneOntologyBiologicalProcesspyrimidine ribonucleotide metabolic process

CTPS2 CTPS1

3.53e-0434172GO:0009218
GeneOntologyBiologicalProcessmembrane depolarization during action potential

SCN1A SCN3A

3.96e-0436172GO:0086010
GeneOntologyBiologicalProcesspyrimidine-containing compound biosynthetic process

CTPS2 CTPS1

5.66e-0443172GO:0072528
GeneOntologyBiologicalProcesssodium ion transmembrane transport

SLC9C1 SCN1A SCN3A

6.19e-04208173GO:0035725
GeneOntologyBiologicalProcessnucleobase metabolic process

CTPS2 CTPS1

6.20e-0445172GO:0009112
GeneOntologyBiologicalProcessmembrane protein ectodomain proteolysis

SPPL3 NCSTN

8.60e-0453172GO:0006509
GeneOntologyBiologicalProcesscalcineurin-NFAT signaling cascade

SPPL3 ADGRB2

8.92e-0454172GO:0033173
GeneOntologyBiologicalProcesspyrimidine nucleotide metabolic process

CTPS2 CTPS1

9.25e-0455172GO:0006220
GeneOntologyBiologicalProcesscalcineurin-mediated signaling

SPPL3 ADGRB2

1.03e-0358172GO:0097720
GeneOntologyBiologicalProcesscardiac muscle cell action potential involved in contraction

SCN1A SCN3A

1.17e-0362172GO:0086002
GeneOntologyBiologicalProcessneuronal action potential

SCN1A SCN3A

1.21e-0363172GO:0019228
GeneOntologyBiologicalProcessmembrane protein proteolysis

SPPL3 NCSTN

1.25e-0364172GO:0033619
GeneOntologyBiologicalProcesssodium ion transport

SLC9C1 SCN1A SCN3A

1.39e-03275173GO:0006814
GeneOntologyBiologicalProcessT cell proliferation

ZP4 NCSTN CTPS1

1.58e-03288173GO:0042098
GeneOntologyBiologicalProcessdetection of mechanical stimulus

SCN1A PIEZO1

1.71e-0375172GO:0050982
GeneOntologyBiologicalProcessglutamine family amino acid metabolic process

CTPS2 CTPS1

1.95e-0380172GO:0009064
GeneOntologyBiologicalProcesscardiac muscle cell action potential

SCN1A SCN3A

2.30e-0387172GO:0086001
GeneOntologyBiologicalProcesspyrimidine-containing compound metabolic process

CTPS2 CTPS1

2.56e-0392172GO:0072527
GeneOntologyBiologicalProcesscardiac muscle cell contraction

SCN1A SCN3A

2.62e-0393172GO:0086003
GeneOntologyCellularComponentcytoophidium

CTPS2 CTPS1

1.87e-063172GO:0097268
GeneOntologyCellularComponentvoltage-gated sodium channel complex

SCN1A SCN3A

8.41e-0517172GO:0001518
GeneOntologyCellularComponentsodium channel complex

SCN1A SCN3A

2.49e-0429172GO:0034706
DomainCTP_synthase_N

CTPS2 CTPS1

7.80e-072172IPR017456
DomainGATase1_CTP_Synthase

CTPS2 CTPS1

7.80e-072172IPR033828
DomainCTP_synth_N

CTPS2 CTPS1

7.80e-072172PF06418
DomainCTP_synthase

CTPS2 CTPS1

7.80e-072172IPR004468
DomainGATase

CTPS2 CTPS1

7.79e-065172PF00117
DomainGATASE

CTPS2 CTPS1

1.17e-056172IPR017926
DomainNa_trans_cytopl

SCN1A SCN3A

1.17e-056172PF11933
DomainGATASE_TYPE_1

CTPS2 CTPS1

1.17e-056172PS51273
DomainNa_trans_cytopl

SCN1A SCN3A

1.17e-056172IPR024583
DomainNa_channel_asu

SCN1A SCN3A

3.49e-0510172IPR001696
DomainNa_trans_assoc

SCN1A SCN3A

3.49e-0510172IPR010526
DomainNa_trans_assoc

SCN1A SCN3A

3.49e-0510172PF06512
Domain-

CTPS2 CTPS1

3.49e-05101723.40.50.880
DomainClass_I_gatase-like

CTPS2 CTPS1

5.12e-0512172IPR029062
DomainIon_trans_dom

SLC9C1 SCN1A SCN3A

1.41e-04114173IPR005821
DomainIon_trans

SLC9C1 SCN1A SCN3A

1.41e-04114173PF00520
DomainChannel_four-helix_dom

SCN1A SCN3A

1.21e-0357172IPR027359
Domain-

SCN1A SCN3A

1.21e-03571721.20.120.350
DomainIQ

SCN1A SCN3A

1.87e-0371172PF00612
DomainIQ

SCN1A SCN3A

2.42e-0381172SM00015
DomainIQ_motif_EF-hand-BS

SCN1A SCN3A

2.98e-0390172IPR000048
DomainIQ

SCN1A SCN3A

3.18e-0393172PS50096
DomainEF-hand-dom_pair

SCN1A SCN3A

2.75e-02287172IPR011992
PathwayWP_DRAVET_SYNDROME_SCN1AA1783V_POINT_MUTATION_MODEL

SCN1A SCN3A CTPS2

2.83e-0573123MM16641
PathwayWP_DRAVET_SYNDROME

SCN1A SCN3A

2.48e-0428122M45519
PathwayREACTOME_INTERCONVERSION_OF_NUCLEOTIDE_DI_AND_TRIPHOSPHATES

CTPS2 CTPS1

2.66e-0429122MM15158
PathwayREACTOME_INTERCONVERSION_OF_NUCLEOTIDE_DI_AND_TRIPHOSPHATES

CTPS2 CTPS1

2.66e-0429122M27408
PathwayREACTOME_INTERACTION_BETWEEN_L1_AND_ANKYRINS

SCN1A SCN3A

3.05e-0431122M877
PathwayREACTOME_PHASE_0_RAPID_DEPOLARISATION

SCN1A SCN3A

3.25e-0432122M27455
PathwayWP_PYRIMIDINE_METABOLISM

CTPS2 CTPS1

2.23e-0384122M48340
PathwayREACTOME_METABOLISM_OF_NUCLEOTIDES

CTPS2 CTPS1

2.96e-0397122MM14607
PathwayREACTOME_METABOLISM_OF_NUCLEOTIDES

CTPS2 CTPS1

2.96e-0397122M777
PathwayKEGG_PYRIMIDINE_METABOLISM

CTPS2 CTPS1

3.02e-0398122M5109
PathwayREACTOME_L1CAM_INTERACTIONS

SCN1A SCN3A

4.56e-03121122M872
PathwayREACTOME_CARDIAC_CONDUCTION

SCN1A SCN3A

5.24e-03130122M27454
Pubmed

Correlations in timing of sodium channel expression, epilepsy, and sudden death in Dravet syndrome.

SCN1A SCN3A

2.25e-07217223965409
Pubmed

Electrophysiological Differences between the Same Pore Region Mutation in SCN1A and SCN3A.

SCN1A SCN3A

2.25e-07217224990319
Pubmed

Mapping of a FEB3 homologous febrile seizure locus on mouse chromosome 2 containing candidate genes Scn1a and Scn3a.

SCN1A SCN3A

2.25e-07217227690330
Pubmed

Regulation of human cytidine triphosphate synthetase 2 by phosphorylation.

CTPS2 CTPS1

2.25e-07217220739275
Pubmed

SCN1A, SCN2A and SCN3A gene polymorphisms and responsiveness to antiepileptic drugs: a multicenter cohort study and meta-analysis.

SCN1A SCN3A

6.74e-07317223859570
Pubmed

Early expression of sodium channel transcripts and sodium current by cajal-retzius cells in the preplate of the embryonic mouse neocortex.

SCN1A SCN3A

6.74e-07317214973256
Pubmed

Multidrug resistance in epilepsy and polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A: correlation among phenotype, genotype, and mRNA expression.

SCN1A SCN3A

6.74e-07317218784617
Pubmed

Sodium channels SCN1A, SCN2A and SCN3A in familial autism.

SCN1A SCN3A

6.74e-07317212610651
Pubmed

Characterization of 5' untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences.

SCN1A SCN3A

6.74e-07317217544618
Pubmed

Expression of Human CTP synthetase in Saccharomyces cerevisiae reveals phosphorylation by protein kinase A.

CTPS2 CTPS1

6.74e-07317216179339
Pubmed

Mutations in the sodium channel genes SCN1A, SCN3A, and SCN9A in children with epilepsy with febrile seizures plus(EFS+).

SCN1A SCN3A

6.74e-07317233895391
Pubmed

GAPDH-mediated posttranscriptional regulations of sodium channel Scn1a and Scn3a genes under seizure and ketogenic diet conditions.

SCN1A SCN3A

6.74e-07317227816501
Pubmed

Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation.

SCN1A SCN3A

1.35e-06417217537961
Pubmed

Sodium channel expression and transcript variation in the developing brain of human, Rhesus monkey, and mouse.

SCN1A SCN3A

1.35e-06417235031483
Pubmed

Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population.

SCN1A SCN3A

1.35e-06417235801810
Pubmed

Abnormal changes in voltage-gated sodium channels subtypes NaV1.1, NaV1.2, NaV1.3, NaV1.6 and CaM/CaMKII pathway in low-grade astrocytoma.

SCN1A SCN3A

1.35e-06417229578003
Pubmed

Use of recombinant inbred strains for studying genetic determinants of responses to alcohol.

SCN1A SCN3A

1.35e-0641728974318
Pubmed

Three brain sodium channel alpha-subunit genes are clustered on the proximal segment of mouse chromosome 2.

SCN1A SCN3A

2.25e-0651721679748
Pubmed

A new sodium channel alpha-subunit gene (Scn9a) from Schwann cells maps to the Scn1a, Scn2a, Scn3a cluster of mouse chromosome 2.

SCN1A SCN3A

2.25e-0651728812438
Pubmed

Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy.

SCN1A SCN3A

2.25e-06517224337656
Pubmed

Inactivation of cytidine triphosphate synthase 1 prevents fatal auto-immunity in mice.

CTPS2 CTPS1

3.37e-06617238438357
Pubmed

A 'toothache tree' alkylamide inhibits Aδ mechanonociceptors to alleviate mechanical pain.

SCN1A SCN3A

3.37e-06617223652591
Pubmed

Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries.

WASHC5 PIEZO1 NCSTN MTREX NCAPD2

4.25e-0652917514621295
Pubmed

International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels.

SCN1A SCN3A

8.08e-06917216382098
Pubmed

Expression pattern of neuronal and skeletal muscle voltage-gated Na+ channels in the developing mouse heart.

SCN1A SCN3A

8.08e-06917215746173
Pubmed

CTPS and IMPDH form cytoophidia in developmental thymocytes.

CTPS2 CTPS1

1.01e-051017234022203
Pubmed

Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice.

SCN1A SCN3A

1.48e-051217230175250
Pubmed

Quantitative trait loci mapping of genes that influence the sensitivity and tolerance to ethanol-induced hypothermia in BXD recombinant inbred mice.

SCN1A SCN3A

1.48e-05121728169823
Pubmed

Regulation of neuronal voltage-gated sodium channels by the ubiquitin-protein ligases Nedd4 and Nedd4-2.

SCN1A SCN3A

1.75e-051317215123669
Pubmed

Confirmation of quantitative trait loci for alcohol preference in mice.

SCN1A SCN3A

2.35e-05151729726281
Pubmed

A cohesin-RAD21 interactome.

MTREX NCAPD2 CTPS1

1.35e-0420817322145905
Pubmed

HAPSTR1 localizes HUWE1 to the nucleus to limit stress signaling pathways.

A2ML1 MTREX NCAPD2 CTPS1

1.44e-0457117437167062
Pubmed

Direct interaction between the PRDM3 and PRDM16 tumor suppressors and the NuRD chromatin remodeling complex.

MTREX NCAPD2 CTPS1

1.49e-0421517330462309
Pubmed

The HIV-1 Tat protein recruits a ubiquitin ligase to reorganize the 7SK snRNP for transcriptional activation.

SCN1A SCN3A NCSTN MTREX NCAPD2

1.76e-04115317529845934
Pubmed

KAP1 facilitates reinstatement of heterochromatin after DNA replication.

GYS1 CTPS2 MTREX CTPS1

3.21e-0470417429955894
Pubmed

Interactomic analysis reveals a homeostatic role for the HIV restriction factor TRIM5α in mitophagy.

CTPS2 NCAPD2 CTPS1

3.65e-0429217335545034
Pubmed

Proteomic profiling of VCP substrates links VCP to K6-linked ubiquitylation and c-Myc function.

WASHC5 A2ML1 MTREX NCAPD2 CTPS1

3.70e-04135317529467282
InteractionCACNA1B interactions

SPPL3 SCN1A MTNR1A

3.81e-0637173int:CACNA1B
InteractionASCL1 interactions

SPPL3 A2ML1 MTNR1A

6.92e-0645173int:ASCL1
InteractionCYP27C1 interactions

SPPL3 MTNR1A

1.00e-056172int:CYP27C1
InteractionCTPS1 interactions

SPPL3 CTPS2 MTREX CTPS1

5.00e-05252174int:CTPS1
InteractionTIGD3 interactions

CTPS2 CTPS1

5.20e-0513172int:TIGD3
InteractionF8A1 interactions

SPPL3 MTNR1A

5.20e-0513172int:F8A1
InteractionTLR7 interactions

SPPL3 A2ML1

6.99e-0515172int:TLR7
InteractionTRMT6 interactions

NCSTN CTPS2 MTREX

8.37e-05103173int:TRMT6
InteractionCTPS2 interactions

CTPS2 CTPS1 MTNR1A

1.71e-04131173int:CTPS2
InteractionRNASEH2C interactions

SPPL3 CTPS2

1.83e-0424172int:RNASEH2C
InteractionRAB28 interactions

SPPL3 CTPS2

1.83e-0424172int:RAB28
InteractionNHLRC1 interactions

SPPL3 GYS1

1.99e-0425172int:NHLRC1
InteractionCMIP interactions

SPPL3 MTNR1A

2.87e-0430172int:CMIP
CytobandEnsembl 112 genes in cytogenetic band chr2q24

SCN1A SCN3A

1.00e-03127172chr2q24
CytobandEnsembl 112 genes in cytogenetic band chr12p13

A2ML1 NCAPD2

7.43e-03353172chr12p13
GeneFamilySodium voltage-gated channel alpha subunits

SCN1A SCN3A

1.21e-0591121203
ToppCellTCGA-Breast-Primary_Tumor-Breast_Carcinoma-Infiltrating_Ductal_Carcinoma-4|TCGA-Breast / Sample_Type by Project: Shred V9

A2ML1 NCAPD2 CTPS1

3.97e-0517817344b5ba4e8788d3973749a1717e427647ac4c8579
ToppCellFetal_29-31_weeks-Epithelial-alveolar_epithelial_cell_type_2-D088|Fetal_29-31_weeks / Lineage, Cell type, age group and donor

SLC9C1 SCN1A CTPS1

4.53e-05186173acfa68a2afb7d2b51c9b469a1965fe5cc5d5e64e
ToppCellrenal_papilla_nuclei-Adult_normal_reference-Epithelial-Collecting_tubule_epithelial_cell|Adult_normal_reference / Celltypes from Cells and Nuclei per compartment and clinical group

SLC9C1 PIEZO1 SCN3A

5.13e-0519417304bfc555743f7d8821439d05ae442d15e9886c59
ToppCellrenal_papilla_nuclei-Adult_normal_reference-Epithelial-Collecting_tubule_epithelial_cell-kidney_collecting_duct_principal_cell|Adult_normal_reference / Celltypes from Cells and Nuclei per compartment and clinical group

SLC9C1 PIEZO1 SCN3A

5.13e-0519417369bff17df4a760ccf081cf52ff04af02c14f448d
ComputationalNeighborhood of RFC3

NCAPD2 CTPS1

5.02e-044192GNF2_RFC3
ComputationalNeighborhood of RFC4

NCAPD2 CTPS1

1.08e-036092GNF2_RFC4
ComputationalNeighborhood of RAN

NCAPD2 CTPS1

2.20e-038692GNF2_RAN
Druggamma-glutamylhydroxamate

GYS1 CTPS1

1.88e-059172CID000159636
Drugarginine hydroxamate

CTPS2 CTPS1

2.35e-0510172CID000151275
Drugbacilysin

CTPS2 CTPS1

5.48e-0515172CID000160175
DrugZonisamide

SCN1A SCN3A

7.09e-0517172DB00909
Drugcyclopentenyl cytosine

CTPS2 CTPS1

8.91e-0519172CID000072828
Diseasegeneralized epilepsy with febrile seizures plus 2 (implicated_via_orthology)

SCN1A SCN3A

1.40e-0510172DOID:0111294 (implicated_via_orthology)
DiseaseDravet syndrome (implicated_via_orthology)

SCN1A SCN3A

1.40e-0510172DOID:0080422 (implicated_via_orthology)
Diseasegeneralized epilepsy with febrile seizures plus (implicated_via_orthology)

SCN1A SCN3A

2.05e-0512172DOID:0060170 (implicated_via_orthology)
Diseaseanxiety disorder (implicated_via_orthology)

SCN1A SCN3A

7.17e-0522172DOID:2030 (implicated_via_orthology)
DiseaseAutism Spectrum Disorders

SCN1A MTNR1A

1.08e-0385172C1510586
Diseaseepilepsy (implicated_via_orthology)

SCN1A SCN3A

3.91e-03163172DOID:1826 (implicated_via_orthology)

Protein segments in the cluster

PeptideGeneStartEntry
DVQRFFQVVSFMVDA

ADGRB2

661

O60241
QVYFRIVTMDSNFVP

A2ML1

136

A8K2U0
LPRNVMFVFFQGETF

NCSTN

321

Q92542
TVVAFFIMPARTNNF

GYS1

361

P13807
RIFTPVVFFTTAFDM

SLC9C1

81

Q4G0N8
SMPFIEAFRQFQFKV

CTPS1

156

P17812
QGMVFDFVTRQVFDI

SCN3A

1516

Q9NY46
QGMVFDFVTRQVFDI

SCN1A

1531

P35498
VIEFFVMVFQFGVPQ

NCAPD2

656

Q15021
GMPFVEAFRQFQFKA

CTPS2

156

Q9NRF8
YFQRVPINESFISMV

WASHC5

211

Q12768
IMERNFQPVIIFSFS

MTREX

381

P42285
VMFFFFDSVQVVFTI

SPPL3

86

Q8TCT6
FFILPAVTERMFNQN

PIEZO1

2046

Q92508
VMATQAFVLFQFPFT

ZP4

226

Q12836
VATYVFVEFFVNPMR

ZDHHC1

196

Q8WTX9
PQDFRNFVTMFVVFV

MTNR1A

231

P48039