Features Interactions Isoform Disease Linear motifs Fingerprint Network All partners

SCN8A_HUMAN

Evidence for PS localization

GO
G2C
SynGO
SynaptomeDB

Functions

In macrophages and melanoma cells, may participate in the control of podosome and invadopodia formation. [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
1768 Asn Asp Developmentalandepilepticencephalopathy13(DEE13) -
216 Val Asp Developmentalandepilepticencephalopathy13(DEE13) -
846 Phe Ser Developmentalandepilepticencephalopathy13(DEE13) -
1327 Ile Val Developmentalandepilepticencephalopathy13(DEE13) -
1466 Asn Lys Developmentalandepilepticencephalopathy13(DEE13) -
1466 Asn Thr Developmentalandepilepticencephalopathy13(DEE13) -
1617 Arg Gln Developmentalandepilepticencephalopathy13(DEE13) -
1650 Ala Thr Developmentalandepilepticencephalopathy13(DEE13) -
1872 Arg Trp Developmentalandepilepticencephalopathy13(DEE13) -
223 Arg Gly Developmentalandepilepticencephalopathy13(DEE13) -
767 Thr Ile Developmentalandepilepticencephalopathy13(DEE13) -
890 Ala Thr Developmentalandepilepticencephalopathy13(DEE13) -
984 Asn Lys Developmentalandepilepticencephalopathy13(DEE13) -
1451 Gly Ser Developmentalandepilepticencephalopathy13(DEE13) -
1872 Arg Leu Developmentalandepilepticencephalopathy13(DEE13) -
1872 Arg Gln Developmentalandepilepticencephalopathy13(DEE13) -
1877 Asn Ser Developmentalandepilepticencephalopathy13(DEE13) -
1877 Asn Ser Seizures,benignfamilialinfantile,5(BFIS5) -
1483 Glu Lys Seizures,benignfamilialinfantile,5(BFIS5) -
978 Ser Gly Developmentalandepilepticencephalopathy13(DEE13) -
1475 Gly Arg Developmentalandepilepticencephalopathy13(DEE13) -
1279 Leu Val Developmentalandepilepticencephalopathy13(DEE13) -
210 Phe Leu Developmentalandepilepticencephalopathy13(DEE13) -
232 Ser Pro Developmentalandepilepticencephalopathy13(DEE13) -
850 Arg Glu Developmentalandepilepticencephalopathy13(DEE13) -
891 Val Met Developmentalandepilepticencephalopathy13(DEE13) -
1598 Val Ala Developmentalandepilepticencephalopathy13(DEE13) -
1719 Pro Arg Myoclonus,familial,2(MYOCL2) -

Linear motifs

No annotated instance was found. To search for linear motifs, use the ELM prediction server.

Fingerprint

Molecular function

Term Name % Distance from the top of the tree Annotated in SCN8A_HUMAN
GO:0005216 ion channel activity 23.5294 4 yes
GO:0005244 voltage-gated ion channel activity 23.5294 4 yes
GO:0005261 cation channel activity 23.5294 5 yes
GO:0008324 cation transmembrane transporter activity 23.5294 4 yes
GO:0015267 channel activity 23.5294 4 yes
GO:0022832 voltage-gated channel activity 23.5294 6 yes
GO:0022836 gated channel activity 23.5294 5 yes
GO:0022890 inorganic cation transmembrane transporter activity 23.5294 4 yes
GO:0046873 metal ion transmembrane transporter activity 23.5294 5 yes
GO:0097718 disordered domain specific binding 23.5294 4 no
GO:0019900 kinase binding 23.5294 4 no
GO:0019901 protein kinase binding 23.5294 5 no

Biological process

Term Name % Distance from top the of the tree Annotated in SCN8A_HUMAN
GO:0051049 regulation of transport 70.5882 4 yes
GO:0043269 regulation of ion transport 64.7059 5 yes
GO:0034762 regulation of transmembrane transport 58.8235 4 yes
GO:0034765 regulation of ion transmembrane transport 58.8235 5 yes
GO:0048522 positive regulation of cellular process 58.8235 4 no
GO:0008104 protein localization 52.9412 4 no
GO:0010959 regulation of metal ion transport 47.0588 6 no
GO:0010646 regulation of cell communication 47.0588 4 no
GO:0048523 negative regulation of cellular process 47.0588 4 no
GO:0060255 regulation of macromolecule metabolic process 47.0588 4 no
GO:0022607 cellular component assembly 41.1765 4 no
GO:0022898 regulation of transmembrane transporter activity 41.1765 4 no
GO:0032412 regulation of ion transmembrane transporter activity 41.1765 5 no
GO:0051050 positive regulation of transport 41.1765 4 no
GO:1904062 regulation of cation transmembrane transport 41.1765 6 no
GO:0009893 positive regulation of metabolic process 41.1765 4 no
GO:0010604 positive regulation of macromolecule metabolic process 41.1765 5 no
GO:0034330 cell junction organization 41.1765 4 no
GO:0030030 cell projection organization 41.1765 4 no
GO:0001508 action potential 41.1765 4 yes
GO:0030001 metal ion transport 35.2941 6 yes
GO:0010038 response to metal ion 35.2941 4 no
GO:0032411 positive regulation of transporter activity 35.2941 4 no
GO:0032414 positive regulation of ion transmembrane transporter activity 35.2941 5 no
GO:0034764 positive regulation of transmembrane transport 35.2941 5 no
GO:0034767 positive regulation of ion transmembrane transport 35.2941 6 no
GO:0043270 positive regulation of ion transport 35.2941 5 no
GO:0044057 regulation of system process 35.2941 4 no
GO:1904064 positive regulation of cation transmembrane transport 35.2941 7 no
GO:2001257 regulation of cation channel activity 35.2941 6 no
GO:2001259 positive regulation of cation channel activity 35.2941 6 no
GO:0031323 regulation of cellular metabolic process 35.2941 4 no
GO:0051051 negative regulation of transport 35.2941 4 no
GO:0051128 regulation of cellular component organization 35.2941 4 no
GO:0051171 regulation of nitrogen compound metabolic process 35.2941 4 no
GO:0051246 regulation of protein metabolic process 35.2941 5 no
GO:0080090 regulation of primary metabolic process 35.2941 4 no
GO:0050808 synapse organization 35.2941 5 no
GO:0006811 ion transport 35.2941 4 yes
GO:0006812 cation transport 35.2941 5 yes
GO:0098655 cation transmembrane transport 29.4118 4 yes
GO:0098660 inorganic ion transmembrane transport 29.4118 4 yes
GO:0098662 inorganic cation transmembrane transport 29.4118 5 yes
GO:0006937 regulation of muscle contraction 29.4118 6 no
GO:0090257 regulation of muscle system process 29.4118 5 no
GO:0001932 regulation of protein phosphorylation 29.4118 7 no
GO:0006996 organelle organization 29.4118 4 no
GO:0008016 regulation of heart contraction 29.4118 6 no
GO:0009892 negative regulation of metabolic process 29.4118 4 no
GO:0009966 regulation of signal transduction 29.4118 4 no
GO:0010605 negative regulation of macromolecule metabolic process 29.4118 5 no
GO:0019220 regulation of phosphate metabolic process 29.4118 6 no
GO:0031324 negative regulation of cellular metabolic process 29.4118 5 no
GO:0031399 regulation of protein modification process 29.4118 6 no
GO:0032410 negative regulation of transporter activity 29.4118 4 no
GO:0032413 negative regulation of ion transmembrane transporter activity 29.4118 5 no
GO:0034763 negative regulation of transmembrane transport 29.4118 5 no
GO:0034766 negative regulation of ion transmembrane transport 29.4118 6 no
GO:0042325 regulation of phosphorylation 29.4118 7 no
GO:0043271 negative regulation of ion transport 29.4118 5 no
GO:0051172 negative regulation of nitrogen compound metabolic process 29.4118 5 no
GO:0051173 positive regulation of nitrogen compound metabolic process 29.4118 5 no
GO:0051174 regulation of phosphorus metabolic process 29.4118 5 no
GO:0051247 positive regulation of protein metabolic process 29.4118 6 no
GO:0061024 membrane organization 29.4118 4 no
GO:0072657 protein localization to membrane 29.4118 4 no
GO:1902531 regulation of intracellular signal transduction 29.4118 5 no
GO:1903522 regulation of blood circulation 29.4118 5 no
GO:1904063 negative regulation of cation transmembrane transport 29.4118 7 no
GO:0007409 axonogenesis 29.4118 8 no
GO:0032990 cell part morphogenesis 29.4118 4 no
GO:0048812 neuron projection morphogenesis 29.4118 7 no
GO:0048858 cell projection morphogenesis 29.4118 5 no
GO:0120039 plasma membrane bounded cell projection morphogenesis 29.4118 6 no
GO:0006813 potassium ion transport 23.5294 7 no
GO:0043266 regulation of potassium ion transport 23.5294 7 no
GO:0071805 potassium ion transmembrane transport 23.5294 6 no
GO:1901016 regulation of potassium ion transmembrane transporter activity 23.5294 6 no
GO:1901379 regulation of potassium ion transmembrane transport 23.5294 7 no
GO:0001934 positive regulation of protein phosphorylation 23.5294 8 no
GO:0006942 regulation of striated muscle contraction 23.5294 7 no
GO:0010562 positive regulation of phosphorus metabolic process 23.5294 6 no
GO:0010649 regulation of cell communication by electrical coupling 23.5294 5 no
GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum 23.5294 6 no
GO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion 23.5294 7 no
GO:0010882 regulation of cardiac muscle contraction by calcium ion signaling 23.5294 6 no
GO:0019722 calcium-mediated signaling 23.5294 5 no
GO:0019932 second-messenger-mediated signaling 23.5294 4 no
GO:0031325 positive regulation of cellular metabolic process 23.5294 5 no
GO:0031401 positive regulation of protein modification process 23.5294 7 no
GO:0033674 positive regulation of kinase activity 23.5294 6 no
GO:0036211 protein modification process 23.5294 4 no
GO:0042327 positive regulation of phosphorylation 23.5294 8 no
GO:0043085 positive regulation of catalytic activity 23.5294 4 no
GO:0043412 macromolecule modification 23.5294 4 no
GO:0043549 regulation of kinase activity 23.5294 5 no
GO:0045859 regulation of protein kinase activity 23.5294 6 no
GO:0045860 positive regulation of protein kinase activity 23.5294 7 no
GO:0045937 positive regulation of phosphate metabolic process 23.5294 7 no
GO:0051248 negative regulation of protein metabolic process 23.5294 6 no
GO:0051279 regulation of release of sequestered calcium ion into cytosol 23.5294 5 no
GO:0051282 regulation of sequestering of calcium ion 23.5294 4 no
GO:0051336 regulation of hydrolase activity 23.5294 4 no
GO:0051338 regulation of transferase activity 23.5294 4 no
GO:0051345 positive regulation of hydrolase activity 23.5294 5 no
GO:0051347 positive regulation of transferase activity 23.5294 5 no
GO:0051592 response to calcium ion 23.5294 5 no
GO:0051924 regulation of calcium ion transport 23.5294 7 no
GO:0051928 positive regulation of calcium ion transport 23.5294 6 no
GO:0055117 regulation of cardiac muscle contraction 23.5294 7 no
GO:1901019 regulation of calcium ion transmembrane transporter activity 23.5294 6 no
GO:1901021 positive regulation of calcium ion transmembrane transporter activity 23.5294 6 no
GO:1903169 regulation of calcium ion transmembrane transport 23.5294 7 no
GO:1904427 positive regulation of calcium ion transmembrane transport 23.5294 7 no
GO:2001258 negative regulation of cation channel activity 23.5294 6 no
GO:0010468 regulation of gene expression 23.5294 5 no
GO:0016192 vesicle-mediated transport 23.5294 4 no
GO:0034329 cell junction assembly 23.5294 5 no
GO:0072659 protein localization to plasma membrane 23.5294 5 no
GO:1990778 protein localization to cell periphery 23.5294 5 no
GO:0031175 neuron projection development 23.5294 6 no
GO:0120036 plasma membrane bounded cell projection organization 23.5294 5 no
GO:0019228 neuronal action potential 23.5294 5 yes
GO:0042552 myelination 17.6471 4 yes
GO:0051899 membrane depolarization 11.7647 4 yes
GO:0086010 membrane depolarization during action potential 11.7647 5 yes
GO:0007399 nervous system development 11.7647 4 yes
GO:0007422 peripheral nervous system development 11.7647 4 yes

Disease

Term Name % Distance from top the of the tree Annotated in SCN8A_HUMAN
DOID:331 central nervous system disease 23.5294 3 yes
DOID:0050701 electroclinical syndrome 17.6471 6 yes
DOID:0112202 developmental and epileptic encephalopathy 17.6471 7 yes
DOID:1826 epilepsy 17.6471 5 yes
DOID:936 brain disease 17.6471 4 yes
DOID:114 heart disease 17.6471 3 no
DOID:0050700 cardiomyopathy 11.7647 4 no
DOID:0060036 intrinsic cardiomyopathy 11.7647 5 no
DOID:2843 long QT syndrome 11.7647 6 no

All partners

Uniprot ID Details Highest evidence Localizing into PSD HPA (protein expression in neurons)
NEDD4_HUMAN [view entry] [view interactions] Low throughput yes yes
MAP1B_HUMAN [view entry] [view interactions] Low throughput yes yes
FGF14_HUMAN [view interactions] Low throughput no 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
YAP1_HUMAN [view interactions] High throughput no yes
HDAC4_HUMAN [view interactions] High throughput no yes
PHB1_HUMAN [view entry] [view interactions] High throughput yes yes
UBC_HUMAN [view entry] [view interactions] High throughput yes yes
RN123_HUMAN [view interactions] High throughput no yes
ANK3_HUMAN [view entry] [view interactions] High throughput yes yes
SCN4A_HUMAN [view interactions] High throughput no no
FITM2_HUMAN [view interactions] High throughput no no
FGF13_HUMAN [view interactions] High throughput no no
SCNBA_HUMAN [view interactions] High throughput no no
SCN5A_HUMAN [view interactions] High throughput no no
AGR2_HUMAN [view interactions] High throughput no no
SCN1B_HUMAN [view interactions] Computational no no
NRCAM_HUMAN [view entry] [view interactions] Computational yes no
KCNQ3_HUMAN [view interactions] Computational no no
SCN4B_HUMAN [view interactions] Computational no yes
KCNA2_HUMAN [view entry] [view interactions] Computational yes yes
SCN2B_HUMAN [view interactions] Computational no no
NFASC_HUMAN [view entry] [view interactions] Computational yes yes
KCNA1_HUMAN [view entry] [view interactions] Computational yes yes
CNTP1_HUMAN [view entry] [view interactions] Computational yes yes
SPTN4_HUMAN [view entry] [view interactions] Computational yes no
SCN3B_HUMAN [view interactions] Computational no no
KCNQ2_HUMAN [view entry] [view interactions] Computational yes yes
ANK2_HUMAN [view entry] [view interactions] Computational yes yes