Features Interactions Isoform Disease Linear motifs Fingerprint Network All partners

SCN8A_HUMAN

GO
G2C
SynaptomeDB

In macrophages and melanoma cells, may participate in the control of podosome and invadopodia formation. [View more on UniProt]

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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) -

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

Molecular function

Term Name % Distance from the top of the tree Annotated in SCN8A_HUMAN
GO:0043169 cation binding 40.0000 4 yes
GO:0046872 metal ion binding 40.0000 5 yes
GO:0005509 calcium ion binding 30.0000 6 no
GO:0008200 ion channel inhibitor activity 30.0000 5 no
GO:0010853 cyclase activator activity 30.0000 4 no
GO:0010854 adenylate cyclase regulator activity 30.0000 4 no
GO:0010856 adenylate cyclase activator activity 30.0000 5 no
GO:0016248 channel inhibitor activity 30.0000 4 no
GO:0019209 kinase activator activity 30.0000 4 no
GO:0019211 phosphatase activator activity 30.0000 4 no
GO:0019887 protein kinase regulator activity 30.0000 4 no
GO:0019888 protein phosphatase regulator activity 30.0000 4 no
GO:0019900 kinase binding 30.0000 4 no
GO:0019901 protein kinase binding 30.0000 5 no
GO:0030295 protein kinase activator activity 30.0000 5 no
GO:0031432 titin binding 30.0000 4 no
GO:0043539 protein serine/threonine kinase activator activity 30.0000 6 no
GO:0072542 protein phosphatase activator activity 30.0000 5 no
GO:0099106 ion channel regulator activity 30.0000 4 no
GO:0000166 nucleotide binding 20.0000 4 yes
GO:0005216 monoatomic ion channel activity 20.0000 4 yes
GO:0005244 voltage-gated monoatomic ion channel activity 20.0000 5 yes
GO:0005248 voltage-gated sodium channel activity 20.0000 7 yes
GO:0005261 monoatomic cation channel activity 20.0000 5 yes
GO:0005272 sodium channel activity 20.0000 6 yes
GO:0008324 monoatomic cation transmembrane transporter activity 20.0000 4 yes
GO:0015081 sodium ion transmembrane transporter activity 20.0000 6 yes
GO:0015267 channel activity 20.0000 4 yes
GO:0017076 purine nucleotide binding 20.0000 5 yes
GO:0022832 voltage-gated channel activity 20.0000 6 yes
GO:0022836 gated channel activity 20.0000 5 yes
GO:0022843 voltage-gated monoatomic cation channel activity 20.0000 6 yes
GO:0022890 inorganic cation transmembrane transporter activity 20.0000 4 yes
GO:0030554 adenyl nucleotide binding 20.0000 6 yes
GO:0032555 purine ribonucleotide binding 20.0000 4 yes
GO:0032559 adenyl ribonucleotide binding 20.0000 5 yes
GO:0043168 anion binding 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 SCN8A_HUMAN
GO:0010646 regulation of cell communication 70.0000 4 no
GO:0048522 positive regulation of cellular process 70.0000 4 no
GO:0048523 negative regulation of cellular process 70.0000 4 no
GO:0009893 positive regulation of metabolic process 60.0000 4 no
GO:0010604 positive regulation of macromolecule metabolic process 60.0000 5 no
GO:0031323 regulation of cellular metabolic process 60.0000 4 no
GO:0051049 regulation of transport 60.0000 4 no
GO:0051051 negative regulation of transport 60.0000 4 no
GO:0060255 regulation of macromolecule metabolic process 60.0000 4 no
GO:0009892 negative regulation of metabolic process 50.0000 4 no
GO:0009966 regulation of signal transduction 50.0000 4 no
GO:0010038 response to metal ion 50.0000 4 no
GO:0010605 negative regulation of macromolecule metabolic process 50.0000 5 no
GO:0010959 regulation of metal ion transport 50.0000 6 no
GO:0022898 regulation of transmembrane transporter activity 50.0000 4 no
GO:0031324 negative regulation of cellular metabolic process 50.0000 5 no
GO:0031325 positive regulation of cellular metabolic process 50.0000 5 no
GO:0032410 negative regulation of transporter activity 50.0000 4 no
GO:0032412 regulation of monoatomic ion transmembrane transporter activity 50.0000 5 no
GO:0032413 negative regulation of ion transmembrane transporter activity 50.0000 5 no
GO:0034762 regulation of transmembrane transport 50.0000 4 no
GO:0034763 negative regulation of transmembrane transport 50.0000 5 no
GO:0034765 regulation of monoatomic ion transmembrane transport 50.0000 5 no
GO:0034766 negative regulation of monoatomic ion transmembrane transport 50.0000 6 no
GO:0043269 regulation of monoatomic ion transport 50.0000 5 no
GO:0043271 negative regulation of monoatomic ion transport 50.0000 5 no
GO:0051050 positive regulation of transport 50.0000 4 no
GO:0051246 regulation of protein metabolic process 50.0000 5 no
GO:0051247 positive regulation of protein metabolic process 50.0000 6 no
GO:0080090 regulation of primary metabolic process 50.0000 4 no
GO:1902531 regulation of intracellular signal transduction 50.0000 5 no
GO:1904062 regulation of monoatomic cation transmembrane transport 50.0000 6 no
GO:1904063 negative regulation of cation transmembrane transport 50.0000 7 no
GO:0001934 positive regulation of protein phosphorylation 40.0000 8 no
GO:0010562 positive regulation of phosphorus metabolic process 40.0000 6 no
GO:0010647 positive regulation of cell communication 40.0000 5 no
GO:0010649 regulation of cell communication by electrical coupling 40.0000 5 no
GO:0019220 regulation of phosphate metabolic process 40.0000 6 no
GO:0031399 regulation of protein modification process 40.0000 6 no
GO:0031401 positive regulation of protein modification process 40.0000 7 no
GO:0032411 positive regulation of transporter activity 40.0000 4 no
GO:0032414 positive regulation of ion transmembrane transporter activity 40.0000 5 no
GO:0033674 positive regulation of kinase activity 40.0000 6 no
GO:0034764 positive regulation of transmembrane transport 40.0000 5 no
GO:0034767 positive regulation of monoatomic ion transmembrane transport 40.0000 6 no
GO:0042325 regulation of phosphorylation 40.0000 7 no
GO:0042327 positive regulation of phosphorylation 40.0000 8 no
GO:0043085 positive regulation of catalytic activity 40.0000 4 no
GO:0043270 positive regulation of monoatomic ion transport 40.0000 5 no
GO:0043549 regulation of kinase activity 40.0000 5 no
GO:0045859 regulation of protein kinase activity 40.0000 6 no
GO:0045860 positive regulation of protein kinase activity 40.0000 7 no
GO:0045937 positive regulation of phosphate metabolic process 40.0000 7 no
GO:0051174 regulation of phosphorus metabolic process 40.0000 5 no
GO:0051248 negative regulation of protein metabolic process 40.0000 6 no
GO:0051336 regulation of hydrolase activity 40.0000 4 no
GO:0051338 regulation of transferase activity 40.0000 4 no
GO:0051345 positive regulation of hydrolase activity 40.0000 5 no
GO:0051347 positive regulation of transferase activity 40.0000 5 no
GO:0051592 response to calcium ion 40.0000 5 no
GO:0071310 cellular response to organic substance 40.0000 4 no
GO:1904064 positive regulation of cation transmembrane transport 40.0000 7 no
GO:2001257 regulation of cation channel activity 40.0000 6 no
GO:2001258 negative regulation of cation channel activity 40.0000 6 no
GO:2001259 positive regulation of cation channel activity 40.0000 6 no
GO:0001932 regulation of protein phosphorylation 40.0000 7 no
GO:0001933 negative regulation of protein phosphorylation 30.0000 8 no
GO:0005513 detection of calcium ion 30.0000 4 no
GO:0006937 regulation of muscle contraction 30.0000 6 no
GO:0006942 regulation of striated muscle contraction 30.0000 7 no
GO:0008016 regulation of heart contraction 30.0000 6 no
GO:0009967 positive regulation of signal transduction 30.0000 5 no
GO:0010563 negative regulation of phosphorus metabolic process 30.0000 6 no
GO:0010564 regulation of cell cycle process 30.0000 5 no
GO:0010799 regulation of peptidyl-threonine phosphorylation 30.0000 8 no
GO:0010800 positive regulation of peptidyl-threonine phosphorylation 30.0000 9 no
GO:0010801 negative regulation of peptidyl-threonine phosphorylation 30.0000 9 no
GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum 30.0000 6 no
GO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion 30.0000 7 no
GO:0010882 regulation of cardiac muscle contraction by calcium ion signaling 30.0000 6 no
GO:0010921 regulation of phosphatase activity 30.0000 5 no
GO:0010922 positive regulation of phosphatase activity 30.0000 6 no
GO:0019722 calcium-mediated signaling 30.0000 5 no
GO:0021762 substantia nigra development 30.0000 4 no
GO:0023056 positive regulation of signaling 30.0000 4 no
GO:0031400 negative regulation of protein modification process 30.0000 7 no
GO:0031952 regulation of protein autophosphorylation 30.0000 8 no
GO:0031954 positive regulation of protein autophosphorylation 30.0000 9 no
GO:0032465 regulation of cytokinesis 30.0000 5 no
GO:0032516 positive regulation of phosphoprotein phosphatase activity 30.0000 7 no
GO:0035303 regulation of dephosphorylation 30.0000 7 no
GO:0035304 regulation of protein dephosphorylation 30.0000 7 no
GO:0035306 positive regulation of dephosphorylation 30.0000 8 no
GO:0035307 positive regulation of protein dephosphorylation 30.0000 8 no
GO:0042326 negative regulation of phosphorylation 30.0000 8 no
GO:0043666 regulation of phosphoprotein phosphatase activity 30.0000 6 no
GO:0044057 regulation of system process 30.0000 4 no
GO:0044772 mitotic cell cycle phase transition 30.0000 4 no
GO:0044839 cell cycle G2/M phase transition 30.0000 4 no
GO:0045936 negative regulation of phosphate metabolic process 30.0000 7 no
GO:0048584 positive regulation of response to stimulus 30.0000 4 no
GO:0050848 regulation of calcium-mediated signaling 30.0000 6 no
GO:0051279 regulation of release of sequestered calcium ion into cytosol 30.0000 5 no
GO:0051280 negative regulation of release of sequestered calcium ion into cytosol 30.0000 6 no
GO:0051281 positive regulation of release of sequestered calcium ion into cytosol 30.0000 6 no
GO:0051282 regulation of sequestering of calcium ion 30.0000 4 no
GO:0051284 positive regulation of sequestering of calcium ion 30.0000 5 no
GO:0051302 regulation of cell division 30.0000 4 no
GO:0051342 regulation of cyclic-nucleotide phosphodiesterase activity 30.0000 5 no
GO:0051343 positive regulation of cyclic-nucleotide phosphodiesterase activity 30.0000 6 no
GO:0051726 regulation of cell cycle 30.0000 4 no
GO:0051924 regulation of calcium ion transport 30.0000 7 no
GO:0051926 negative regulation of calcium ion transport 30.0000 6 no
GO:0051928 positive regulation of calcium ion transport 30.0000 6 no
GO:0055117 regulation of cardiac muscle contraction 30.0000 7 no
GO:0060314 regulation of ryanodine-sensitive calcium-release channel activity 30.0000 6 no
GO:0060315 negative regulation of ryanodine-sensitive calcium-release channel activity 30.0000 7 no
GO:0060316 positive regulation of ryanodine-sensitive calcium-release channel activity 30.0000 7 no
GO:0071900 regulation of protein serine/threonine kinase activity 30.0000 7 no
GO:0071902 positive regulation of protein serine/threonine kinase activity 30.0000 8 no
GO:0090257 regulation of muscle system process 30.0000 5 no
GO:0141124 intracellular signaling cassette 30.0000 4 no
GO:1901019 regulation of calcium ion transmembrane transporter activity 30.0000 6 no
GO:1901020 negative regulation of calcium ion transmembrane transporter activity 30.0000 6 no
GO:1901021 positive regulation of calcium ion transmembrane transporter activity 30.0000 6 no
GO:1901844 regulation of cell communication by electrical coupling involved in cardiac conduction 30.0000 6 no
GO:1903169 regulation of calcium ion transmembrane transport 30.0000 7 no
GO:1903170 negative regulation of calcium ion transmembrane transport 30.0000 7 no
GO:1903522 regulation of blood circulation 30.0000 5 no
GO:1904427 positive regulation of calcium ion transmembrane transport 30.0000 7 no
GO:1905912 regulation of calcium ion export across plasma membrane 30.0000 8 no
GO:1905913 negative regulation of calcium ion export across plasma membrane 30.0000 8 no
GO:0022607 cellular component assembly 30.0000 4 no
GO:0030030 cell projection organization 30.0000 4 no
GO:0034330 cell junction organization 30.0000 4 no
GO:0050808 synapse organization 30.0000 5 no
GO:0051128 regulation of cellular component organization 30.0000 4 no
GO:0060341 regulation of cellular localization 30.0000 4 no
GO:0009889 regulation of biosynthetic process 30.0000 4 no
GO:0010468 regulation of gene expression 30.0000 6 no
GO:0010556 regulation of macromolecule biosynthetic process 30.0000 5 no
GO:0031326 regulation of cellular biosynthetic process 30.0000 5 no
GO:0008104 protein localization 30.0000 4 no
GO:0001508 action potential 30.0000 4 yes
GO:0019228 neuronal action potential 30.0000 5 yes
GO:0000086 G2/M transition of mitotic cell cycle 30.0000 5 no
GO:0006811 monoatomic ion transport 20.0000 4 yes
GO:0006812 monoatomic cation transport 20.0000 5 yes
GO:0006814 sodium ion transport 20.0000 7 yes
GO:0030001 metal ion transport 20.0000 6 yes
GO:0098655 monoatomic cation transmembrane transport 20.0000 4 yes
GO:0098657 import into cell 20.0000 4 yes
GO:0098662 inorganic cation transmembrane transport 20.0000 4 yes

Disease

No data found.

Uniprot ID Details Highest evidence Localizing into PSD HPA (protein expression in neurons)
MAP1B_HUMAN [view entry] [view interactions] Low throughput yes yes
NEDD4_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
SCN1B_HUMAN [view interactions] Low throughput no no
SCN2B_HUMAN [view interactions] Low throughput no no
HDAC4_HUMAN [view interactions] High throughput no yes
HCN1_HUMAN [view entry] [view interactions] High throughput yes 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
TOP3B_HUMAN [view interactions] High throughput no no
FITM2_HUMAN [view interactions] High throughput no no
SPPL3_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