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) -
1623 Thr Asn Developmentalandepilepticencephalopathy11(DEE11) -
1629 Arg Leu Developmentalandepilepticencephalopathy11(DEE11) -
208 Val Glu Seizures,benignfamilialinfantile,3(BFIS3) -
1312 Arg Thr Developmentalandepilepticencephalopathy11(DEE11) -
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) -
132 Asn Lys Developmentalandepilepticencephalopathy11(DEE11) -
136 Met Ile Developmentalandepilepticencephalopathy11(DEE11) -
240 Ala Ser Seizures,benignfamilialinfantile,3(BFIS3) -
430 Glu Gly Developmentalandepilepticencephalopathy11(DEE11) -
856 Arg Leu Developmentalandepilepticencephalopathy11(DEE11) -
905 Lys Asn Developmentalandepilepticencephalopathy11(DEE11) -
928 Phe Cys Developmentalandepilepticencephalopathy11(DEE11) -
1001 Asn Lys Seizures,benignfamilialinfantile,3(BFIS3) -
1326 Val Asp Developmentalandepilepticencephalopathy11(DEE11) -
1342 Leu Pro Developmentalandepilepticencephalopathy11(DEE11) -
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) -
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) -
1829 Leu Phe Developmentalandepilepticencephalopathy11(DEE11) -
1853 His Arg Developmentalandepilepticencephalopathy11(DEE11) -
191 Trp Cys Developmentalandepilepticencephalopathy11(DEE11) -
773 Thr Ile Developmentalandepilepticencephalopathy11(DEE11) -
908 Lys Glu Seizures,benignfamilialinfantile,3(BFIS3) -

Linear motifs

ELM instance Name Type Start End Partner
ELMI003603 LIG_CaM_IQ_9 LIG 1909 1925 -
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:0043169 cation binding 26.3158 4 no
GO:0046872 metal ion binding 26.3158 5 no
GO:0043168 anion binding 23.6842 4 no
GO:0003723 RNA binding 23.6842 4 no
GO:0000166 nucleotide binding 21.0526 4 no
GO:0017076 purine nucleotide binding 21.0526 5 no
GO:0032555 purine ribonucleotide binding 21.0526 4 no
GO:0008324 monoatomic cation transmembrane transporter activity 15.7895 4 yes
GO:0022890 inorganic cation transmembrane transporter activity 15.7895 4 yes
GO:0046873 metal ion transmembrane transporter activity 15.7895 5 yes
GO:0015081 sodium ion transmembrane transporter activity 10.5263 6 yes
GO:0005216 monoatomic ion channel activity 7.8947 4 yes
GO:0005244 voltage-gated monoatomic ion channel activity 7.8947 5 yes
GO:0005261 monoatomic cation channel activity 7.8947 5 yes
GO:0015085 calcium ion transmembrane transporter activity 7.8947 6 yes
GO:0015267 channel activity 7.8947 4 yes
GO:0022832 voltage-gated channel activity 7.8947 6 yes
GO:0022836 gated channel activity 7.8947 5 yes
GO:0022843 voltage-gated monoatomic cation channel activity 7.8947 6 yes
GO:0005245 voltage-gated calcium channel activity 5.2632 7 yes
GO:0005248 voltage-gated sodium channel activity 5.2632 7 yes
GO:0005262 calcium channel activity 5.2632 6 yes
GO:0005272 sodium channel activity 5.2632 6 yes
GO:0008331 high voltage-gated calcium channel activity 5.2632 8 yes

Biological process

Term Name % Distance from top the of the tree Annotated in SCN2A_HUMAN
GO:0048522 positive regulation of cellular process 57.8947 4 no
GO:0031323 regulation of cellular metabolic process 47.3684 4 no
GO:0060255 regulation of macromolecule metabolic process 47.3684 4 no
GO:0048523 negative regulation of cellular process 42.1053 4 no
GO:0051128 regulation of cellular component organization 39.4737 4 no
GO:0010646 regulation of cell communication 36.8421 4 no
GO:0051049 regulation of transport 34.2105 4 no
GO:0009889 regulation of biosynthetic process 34.2105 4 no
GO:0009892 negative regulation of metabolic process 34.2105 4 no
GO:0010556 regulation of macromolecule biosynthetic process 34.2105 5 no
GO:0010605 negative regulation of macromolecule metabolic process 34.2105 5 no
GO:0031326 regulation of cellular biosynthetic process 34.2105 5 no
GO:0080090 regulation of primary metabolic process 34.2105 4 no
GO:0009893 positive regulation of metabolic process 31.5789 4 no
GO:0010468 regulation of gene expression 31.5789 6 no
GO:0010604 positive regulation of macromolecule metabolic process 31.5789 5 no
GO:0031324 negative regulation of cellular metabolic process 28.9474 5 no
GO:0031325 positive regulation of cellular metabolic process 28.9474 5 no
GO:0051246 regulation of protein metabolic process 28.9474 5 no
GO:0031344 regulation of cell projection organization 26.3158 5 no
GO:0051247 positive regulation of protein metabolic process 26.3158 6 no
GO:0030030 cell projection organization 26.3158 4 no
GO:0009966 regulation of signal transduction 26.3158 4 no
GO:0022603 regulation of anatomical structure morphogenesis 23.6842 4 no
GO:0051050 positive regulation of transport 23.6842 4 no
GO:0120035 regulation of plasma membrane bounded cell projection organization 23.6842 6 no
GO:0034762 regulation of transmembrane transport 23.6842 4 no
GO:0043269 regulation of monoatomic ion transport 23.6842 5 no
GO:0010038 response to metal ion 21.0526 4 no
GO:0010647 positive regulation of cell communication 21.0526 5 no
GO:0008104 protein localization 21.0526 4 no
GO:0010959 regulation of metal ion transport 21.0526 6 no
GO:0034765 regulation of monoatomic ion transmembrane transport 21.0526 5 no
GO:0060341 regulation of cellular localization 21.0526 4 no
GO:0006811 monoatomic ion transport 18.4211 4 yes
GO:0006812 monoatomic cation transport 18.4211 5 yes
GO:0030001 metal ion transport 18.4211 6 yes
GO:0098657 import into cell 18.4211 4 yes
GO:0098655 monoatomic cation transmembrane transport 15.7895 4 yes
GO:0098662 inorganic cation transmembrane transport 15.7895 4 yes
GO:0001508 action potential 13.1579 4 yes
GO:0050890 cognition 13.1579 4 yes
GO:0006814 sodium ion transport 10.5263 7 yes
GO:0006915 apoptotic process 10.5263 4 yes
GO:0098659 inorganic cation import across plasma membrane 10.5263 5 yes
GO:0099587 inorganic ion import across plasma membrane 10.5263 4 yes
GO:0006816 calcium ion transport 7.8947 7 yes
GO:0019228 neuronal action potential 7.8947 5 yes
GO:0070588 calcium ion transmembrane transport 7.8947 5 yes
GO:0007399 nervous system development 5.2632 4 yes
GO:0007613 memory 5.2632 4 yes
GO:0042552 myelination 5.2632 4 yes
GO:0051402 neuron apoptotic process 5.2632 5 yes
GO:0070509 calcium ion import 5.2632 8 yes
GO:0097553 calcium ion transmembrane import into cytosol 5.2632 6 yes
GO:0098703 calcium ion import across plasma membrane 5.2632 6 yes
GO:1902656 calcium ion import into cytosol 5.2632 8 yes

Disease

No data found.

All partners

Uniprot ID Details Highest evidence Localizing into PSD HPA (protein expression in neurons)
SCN4B_HUMAN [view interactions] Low throughput no yes
NEDD4_HUMAN [view entry] [view interactions] Low throughput yes yes
CALM2_HUMAN [view entry] [view interactions] Low throughput yes yes
CALM1_HUMAN [view entry] [view interactions] Low throughput yes yes
SCN2B_HUMAN [view interactions] Low throughput no no
SYT1_HUMAN [view entry] [view interactions] Low throughput yes no
CALM3_HUMAN [view entry] [view interactions] Low throughput yes yes
FGF13_HUMAN [view interactions] Low throughput no no
PABP1_HUMAN [view entry] [view interactions] High throughput yes yes
PABP3_HUMAN [view interactions] High throughput no yes
PABP4_HUMAN [view entry] [view interactions] High throughput yes yes
PCDGG_HUMAN [view interactions] High throughput no no
PCDGI_HUMAN [view interactions] High throughput no no
PF4V_HUMAN [view interactions] High throughput no no
PLXA4_HUMAN [view entry] [view interactions] High throughput yes no
PDIP3_HUMAN [view interactions] High throughput no no
PTN14_HUMAN [view interactions] High throughput no yes
PTPRS_HUMAN [view entry] [view interactions] High throughput yes no
RARG_HUMAN [view interactions] High throughput no yes
RL39_HUMAN [view interactions] High throughput no no
SCN3A_HUMAN [view interactions] High throughput no yes
SCN9A_HUMAN [view interactions] High throughput no yes
STOM_HUMAN [view entry] [view interactions] High throughput yes yes
SYT11_HUMAN [view entry] [view interactions] High throughput yes yes
RL40_HUMAN [view entry] [view interactions] High throughput yes yes
VAPA_HUMAN [view entry] [view interactions] High throughput yes yes
S53A1_HUMAN [view interactions] High throughput no yes
YBOX1_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
EZH2_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
SRCN1_HUMAN [view entry] [view interactions] High throughput yes yes
MET_HUMAN [view interactions] High throughput no yes
CAC1C_HUMAN [view entry] [view interactions] High throughput yes no
HCN1_HUMAN [view entry] [view interactions] High throughput yes yes
ABCC8_HUMAN [view interactions] High throughput no yes
AKAP1_HUMAN [view entry] [view interactions] High throughput yes yes
AT1A3_HUMAN [view entry] [view interactions] High throughput yes no
AT1B1_HUMAN [view entry] [view interactions] High throughput yes no
AT2B1_HUMAN [view entry] [view interactions] High throughput yes yes
CAMKV_HUMAN [view entry] [view interactions] High throughput yes yes
CC124_HUMAN [view entry] [view interactions] High throughput yes yes
CLH1_HUMAN [view entry] [view interactions] High throughput yes yes
CP27A_HUMAN [view interactions] High throughput no yes
DCA10_HUMAN [view interactions] High throughput no no
ODP2_HUMAN [view entry] [view interactions] High throughput yes yes
DJC16_HUMAN [view interactions] High throughput no no
ELAV2_HUMAN [view interactions] High throughput no yes
ELAV3_HUMAN [view interactions] High throughput no yes
ELAV4_HUMAN [view entry] [view interactions] High throughput yes yes
EPHA5_HUMAN [view interactions] High throughput no no
SYEP_HUMAN [view interactions] High throughput no yes
FCGBP_HUMAN [view interactions] High throughput no no
FXR2_HUMAN [view entry] [view interactions] High throughput yes yes
GNAI1_HUMAN [view entry] [view interactions] High throughput yes yes
GNAO_HUMAN [view entry] [view interactions] High throughput yes yes
SYIC_HUMAN [view interactions] High throughput no yes
IF2B1_HUMAN [view interactions] High throughput no no
IF2B2_HUMAN [view interactions] High throughput no yes
IF2B3_HUMAN [view interactions] High throughput no no
IGLL5_HUMAN [view interactions] High throughput no no
LV147_HUMAN [view interactions] High throughput no no
ILF3_HUMAN [view interactions] High throughput no yes
ITM2C_HUMAN [view interactions] High throughput no no
SYK_HUMAN [view interactions] High throughput no yes
KDIS_HUMAN [view entry] [view interactions] High throughput yes yes
MKRN1_HUMAN [view interactions] High throughput no no
RM46_HUMAN [view interactions] High throughput no yes
NCKP1_HUMAN [view entry] [view interactions] High throughput yes yes
TNR16_HUMAN [view entry] [view interactions] High throughput yes no
NTRK2_HUMAN [view entry] [view interactions] High throughput yes yes