Features Interactions Isoform Disease Linear motifs Fingerprint Network All partners

SCN2A_HUMAN

Evidence for PS localization

GO
G2C
SynGO
SynaptomeDB
HPA (protein expression in neurons)

Functions

Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient (PubMed, PubMed, PubMed, PubMed). Implicated in the regulation of hippocampal replay occurring within sharp wave ripples (SPW-R) important for memory . [View more on UniProt]

Protein features

Binary interactions with known binding regions

To display all evidence describing the interaction with a partner, click on the protein name left to the bars.

Network

Download full PS network for entry.

Isoforms

Disease-causing germline mutations

Position Amino acid Mutation Disease Overlap with binding region
188 Arg Trp Seizures,benignfamilialinfantile,3(BFIS3) -
223 Arg Gln Seizures,benignfamilialinfantile,3(BFIS3) -
892 Val Ile Seizures,benignfamilialinfantile,3(BFIS3) -
1003 Leu Ile Seizures,benignfamilialinfantile,3(BFIS3) -
1319 Arg Gln Seizures,benignfamilialinfantile,3(BFIS3) -
1330 Leu Phe Seizures,benignfamilialinfantile,3(BFIS3) -
1563 Leu Val Seizures,benignfamilialinfantile,3(BFIS3) -
252 Met Val Seizures,benignfamilialinfantile,3(BFIS3) -
261 Val Met Seizures,benignfamilialinfantile,3(BFIS3) -
263 Ala Val Developmentalandepilepticencephalopathy11(DEE11) -
263 Ala Val Episodicataxia9(EA9) -
1211 Glu Lys Developmentalandepilepticencephalopathy11(DEE11) -
1473 Ile Met Developmentalandepilepticencephalopathy11(DEE11) -
169 Glu Gly Developmentalandepilepticencephalopathy11(DEE11) -
212 Asn Asp Developmentalandepilepticencephalopathy11(DEE11) -
213 Val Asp Developmentalandepilepticencephalopathy11(DEE11) -
236 Thr Ser Developmentalandepilepticencephalopathy11(DEE11) -
263 Ala Thr Developmentalandepilepticencephalopathy11(DEE11) -
853 Arg Gln Developmentalandepilepticencephalopathy11(DEE11) -
876 Asn Thr Developmentalandepilepticencephalopathy11(DEE11) -
999 Glu Lys Developmentalandepilepticencephalopathy11(DEE11) -
1323 Met Val Developmentalandepilepticencephalopathy11(DEE11) -
1326 Val Leu Developmentalandepilepticencephalopathy11(DEE11) -
1336 Ser Tyr Developmentalandepilepticencephalopathy11(DEE11) -
1338 Met Thr Developmentalandepilepticencephalopathy11(DEE11) -
1422 Lys Glu - -
1623 Thr Asn Developmentalandepilepticencephalopathy11(DEE11) -
1629 Arg Leu Developmentalandepilepticencephalopathy11(DEE11) -
208 Val Glu Seizures,benignfamilialinfantile,3(BFIS3) -
1312 Arg Thr Developmentalandepilepticencephalopathy11(DEE11) -
191 Trp Gly - -
251 Val Ile Developmentalandepilepticencephalopathy11(DEE11) -
896 Ala Val Developmentalandepilepticencephalopathy11(DEE11) -
1316 Ala Val Developmentalandepilepticencephalopathy11(DEE11) -
1344 Cys Tyr Developmentalandepilepticencephalopathy11(DEE11) -
1548 Met Thr Developmentalandepilepticencephalopathy11(DEE11) -
1882 Arg Gln Developmentalandepilepticencephalopathy11(DEE11) -
12 Asp Asn - -
82 Asp Gly - -
132 Asn Lys Developmentalandepilepticencephalopathy11(DEE11) -
136 Met Ile Developmentalandepilepticencephalopathy11(DEE11) -
240 Ala Ser Seizures,benignfamilialinfantile,3(BFIS3) -
379 Arg His - -
430 Glu Gly Developmentalandepilepticencephalopathy11(DEE11) -
856 Arg Leu Developmentalandepilepticencephalopathy11(DEE11) -
905 Lys Asn Developmentalandepilepticencephalopathy11(DEE11) -
928 Phe Cys Developmentalandepilepticencephalopathy11(DEE11) -
937 Arg Cys - -
937 Arg His - -
1001 Asn Lys Seizures,benignfamilialinfantile,3(BFIS3) -
1326 Val Asp Developmentalandepilepticencephalopathy11(DEE11) -
1342 Leu Pro Developmentalandepilepticencephalopathy11(DEE11) -
1386 Cys Arg - -
1420 Thr Met - -
1589 Tyr Cys Seizures,benignfamilialinfantile,3(BFIS3) -
1593 Gly Arg Developmentalandepilepticencephalopathy11(DEE11) -
1634 Gly Val Developmentalandepilepticencephalopathy11(DEE11) -
1660 Leu Trp Developmentalandepilepticencephalopathy11(DEE11) -
1882 Arg Gly Episodicataxia9(EA9) -
1882 Arg Leu Developmentalandepilepticencephalopathy11(DEE11) -
211 Gly Asp Developmentalandepilepticencephalopathy11(DEE11) -
220 Arg Gly Developmentalandepilepticencephalopathy11(DEE11) -
674 Thr Lys - -
873 Ile Met Developmentalandepilepticencephalopathy11(DEE11) -
987 Ser Ile Developmentalandepilepticencephalopathy11(DEE11) -
999 Glu Val Developmentalandepilepticencephalopathy11(DEE11) -
1260 Lys Glu Developmentalandepilepticencephalopathy11(DEE11) -
1260 Lys Gln Developmentalandepilepticencephalopathy11(DEE11) -
1479 Gln Pro Developmentalandepilepticencephalopathy11(DEE11) -
1650 Leu Pro Developmentalandepilepticencephalopathy11(DEE11) -
1744 Gly Arg - -
1829 Leu Phe Developmentalandepilepticencephalopathy11(DEE11) -
1853 His Arg Developmentalandepilepticencephalopathy11(DEE11) -
191 Trp Cys Developmentalandepilepticencephalopathy11(DEE11) -
424 Val Met - -
467 Ala Thr - -
773 Thr Ile Developmentalandepilepticencephalopathy11(DEE11) -
908 Lys Glu Seizures,benignfamilialinfantile,3(BFIS3) -
1460 Gly Arg - -

Linear motifs

ELM instance Name Type Start End Partner
ELMI003603 LIG_CaM_IQ_9 LIG 1909 1925 -

Fingerprint

Molecular function

Term Name % Distance from the top of the tree Annotated in SCN2A_HUMAN
GO:0019900 kinase binding 30.0000 4 no
GO:0019901 protein kinase binding 30.0000 5 no
GO:0005216 ion channel activity 25.0000 4 yes
GO:0015267 channel activity 25.0000 4 yes
GO:0022836 gated channel activity 25.0000 5 yes
GO:0005244 voltage-gated ion channel activity 20.0000 4 yes
GO:0005261 cation channel activity 20.0000 5 yes
GO:0008324 cation transmembrane transporter activity 20.0000 4 yes
GO:0022832 voltage-gated channel activity 20.0000 6 yes
GO:0022890 inorganic cation transmembrane transporter activity 20.0000 4 yes
GO:0046873 metal ion transmembrane transporter activity 20.0000 5 yes

Biological process

Term Name % Distance from top the of the tree Annotated in SCN2A_HUMAN
GO:0051049 regulation of transport 75.0000 4 yes
GO:0043269 regulation of ion transport 65.0000 5 yes
GO:0048522 positive regulation of cellular process 60.0000 4 no
GO:0034762 regulation of transmembrane transport 55.0000 4 yes
GO:0034765 regulation of ion transmembrane transport 55.0000 5 yes
GO:0008104 protein localization 45.0000 4 no
GO:0051050 positive regulation of transport 45.0000 4 no
GO:0060255 regulation of macromolecule metabolic process 45.0000 4 no
GO:0009893 positive regulation of metabolic process 40.0000 4 no
GO:0010604 positive regulation of macromolecule metabolic process 40.0000 5 no
GO:0010646 regulation of cell communication 40.0000 4 no
GO:0010959 regulation of metal ion transport 40.0000 6 no
GO:0022607 cellular component assembly 40.0000 4 no
GO:0022898 regulation of transmembrane transporter activity 40.0000 4 no
GO:0032412 regulation of ion transmembrane transporter activity 40.0000 5 no
GO:1904062 regulation of cation transmembrane transport 40.0000 6 no
GO:0010038 response to metal ion 40.0000 4 no
GO:0048523 negative regulation of cellular process 40.0000 4 no
GO:0006811 ion transport 35.0000 4 yes
GO:0043270 positive regulation of ion transport 35.0000 5 no
GO:0044057 regulation of system process 35.0000 4 no
GO:2001257 regulation of cation channel activity 35.0000 6 no
GO:0051051 negative regulation of transport 35.0000 4 no
GO:0031323 regulation of cellular metabolic process 35.0000 4 no
GO:0051171 regulation of nitrogen compound metabolic process 35.0000 4 no
GO:0051246 regulation of protein metabolic process 35.0000 5 no
GO:0080090 regulation of primary metabolic process 35.0000 4 no
GO:0051128 regulation of cellular component organization 35.0000 4 no
GO:0001508 action potential 30.0000 4 yes
GO:0006812 cation transport 30.0000 5 yes
GO:0030001 metal ion transport 30.0000 6 yes
GO:0098660 inorganic ion transmembrane transport 30.0000 4 yes
GO:0016192 vesicle-mediated transport 30.0000 4 no
GO:0032411 positive regulation of transporter activity 30.0000 4 no
GO:0032414 positive regulation of ion transmembrane transporter activity 30.0000 5 no
GO:0034330 cell junction organization 30.0000 4 no
GO:0034764 positive regulation of transmembrane transport 30.0000 5 no
GO:0034767 positive regulation of ion transmembrane transport 30.0000 6 no
GO:0072657 protein localization to membrane 30.0000 4 no
GO:1904064 positive regulation of cation transmembrane transport 30.0000 7 no
GO:2001259 positive regulation of cation channel activity 30.0000 6 no
GO:0030030 cell projection organization 30.0000 4 no
GO:0001932 regulation of protein phosphorylation 30.0000 7 no
GO:0019220 regulation of phosphate metabolic process 30.0000 6 no
GO:0031399 regulation of protein modification process 30.0000 6 no
GO:0042325 regulation of phosphorylation 30.0000 7 no
GO:0051173 positive regulation of nitrogen compound metabolic process 30.0000 5 no
GO:0051174 regulation of phosphorus metabolic process 30.0000 5 no
GO:0051247 positive regulation of protein metabolic process 30.0000 6 no
GO:0098655 cation transmembrane transport 25.0000 4 yes
GO:0098662 inorganic cation transmembrane transport 25.0000 5 yes
GO:0006937 regulation of muscle contraction 25.0000 6 no
GO:0008016 regulation of heart contraction 25.0000 6 no
GO:0061024 membrane organization 25.0000 4 no
GO:0090257 regulation of muscle system process 25.0000 5 no
GO:1903522 regulation of blood circulation 25.0000 5 no
GO:1990778 protein localization to cell periphery 25.0000 5 no
GO:0032410 negative regulation of transporter activity 25.0000 4 no
GO:0032413 negative regulation of ion transmembrane transporter activity 25.0000 5 no
GO:0034763 negative regulation of transmembrane transport 25.0000 5 no
GO:0034766 negative regulation of ion transmembrane transport 25.0000 6 no
GO:0043271 negative regulation of ion transport 25.0000 5 no
GO:0050808 synapse organization 25.0000 5 no
GO:0060341 regulation of cellular localization 25.0000 4 no
GO:1904063 negative regulation of cation transmembrane transport 25.0000 7 no
GO:0001934 positive regulation of protein phosphorylation 25.0000 8 no
GO:0009892 negative regulation of metabolic process 25.0000 4 no
GO:0009966 regulation of signal transduction 25.0000 4 no
GO:0010562 positive regulation of phosphorus metabolic process 25.0000 6 no
GO:0010605 negative regulation of macromolecule metabolic process 25.0000 5 no
GO:0031324 negative regulation of cellular metabolic process 25.0000 5 no
GO:0031325 positive regulation of cellular metabolic process 25.0000 5 no
GO:0031401 positive regulation of protein modification process 25.0000 7 no
GO:0033674 positive regulation of kinase activity 25.0000 6 no
GO:0042327 positive regulation of phosphorylation 25.0000 8 no
GO:0043085 positive regulation of catalytic activity 25.0000 4 no
GO:0043549 regulation of kinase activity 25.0000 5 no
GO:0045859 regulation of protein kinase activity 25.0000 6 no
GO:0045860 positive regulation of protein kinase activity 25.0000 7 no
GO:0045937 positive regulation of phosphate metabolic process 25.0000 7 no
GO:0051172 negative regulation of nitrogen compound metabolic process 25.0000 5 no
GO:0051338 regulation of transferase activity 25.0000 4 no
GO:0051347 positive regulation of transferase activity 25.0000 5 no
GO:0051592 response to calcium ion 25.0000 5 no
GO:0022603 regulation of anatomical structure morphogenesis 25.0000 4 no
GO:0051046 regulation of secretion 25.0000 5 no
GO:1903530 regulation of secretion by cell 25.0000 4 no
GO:0007268 chemical synaptic transmission 25.0000 6 no
GO:0098916 anterograde trans-synaptic signaling 25.0000 5 no
GO:0099537 trans-synaptic signaling 25.0000 4 no
GO:0019228 neuronal action potential 20.0000 5 yes
GO:0007399 nervous system development 15.0000 4 yes
GO:0042552 myelination 10.0000 4 yes
GO:0050890 cognition 10.0000 4 yes
GO:0051899 membrane depolarization 10.0000 4 yes
GO:0086010 membrane depolarization during action potential 10.0000 5 yes

Disease

Term Name % Distance from top the of the tree Annotated in SCN2A_HUMAN
DOID:331 central nervous system disease 20.0000 3 yes
DOID:0050701 electroclinical syndrome 15.0000 6 yes
DOID:0112202 developmental and epileptic encephalopathy 15.0000 7 yes
DOID:1826 epilepsy 15.0000 5 yes
DOID:936 brain disease 15.0000 4 yes
DOID:114 heart disease 15.0000 3 no
DOID:0050700 cardiomyopathy 10.0000 4 no
DOID:0060036 intrinsic cardiomyopathy 10.0000 5 no
DOID:2843 long QT syndrome 10.0000 6 no

All partners

Uniprot ID Details Highest evidence Localizing into PSD HPA (protein expression in neurons)
SYT1_HUMAN [view entry] [view interactions] Low throughput yes no
CALM2_HUMAN [view entry] [view interactions] Low throughput yes yes
CALM3_HUMAN [view entry] [view interactions] Low throughput yes yes
CALM1_HUMAN [view entry] [view interactions] Low throughput yes yes
SCN4B_HUMAN [view interactions] Low throughput no yes
NEDD4_HUMAN [view entry] [view interactions] Low throughput yes yes
SCN2B_HUMAN [view interactions] Low throughput no no
FGF13_HUMAN [view interactions] Low throughput no no
SRCN1_HUMAN [view entry] [view interactions] High throughput yes yes
MET_HUMAN [view interactions] High throughput no yes
ARGAL_HUMAN [view interactions] High throughput no yes
MPP3_HUMAN [view entry] [view interactions] High throughput yes yes
GOLI_HUMAN [view interactions] High throughput no yes
UBC_HUMAN [view entry] [view interactions] High throughput yes yes
ANK3_HUMAN [view entry] [view interactions] High throughput yes yes
MYH10_HUMAN [view entry] [view interactions] High throughput yes yes
ZMY11_HUMAN [view interactions] High throughput no no
DLG4_HUMAN [view entry] [view interactions] High throughput yes yes
ATPA_HUMAN [view interactions] High throughput no yes
ATP5H_HUMAN [view interactions] High throughput no yes
ANK2_HUMAN [view entry] [view interactions] Computational yes yes
KCNQ2_HUMAN [view entry] [view interactions] Computational yes yes
SCN3B_HUMAN [view interactions] Computational no no
SCN3A_HUMAN [view interactions] Computational no yes
SPTN4_HUMAN [view entry] [view interactions] Computational yes no
SCN4A_HUMAN [view interactions] Computational no no
GBRG2_HUMAN [view entry] [view interactions] Computational yes no
NFASC_HUMAN [view entry] [view interactions] Computational yes yes
KCNA1_HUMAN [view entry] [view interactions] Computational yes yes
SCN9A_HUMAN [view interactions] Computational no yes
KCNQ3_HUMAN [view interactions] Computational no no
KCNA2_HUMAN [view entry] [view interactions] Computational yes yes
HCN4_HUMAN [view interactions] Computational no yes
CAHM1_HUMAN [view interactions] Computational no yes
SCN1B_HUMAN [view interactions] Computational no no
NRCAM_HUMAN [view entry] [view interactions] Computational yes no