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sodium voltage-gated channel alpha subunit 8

Summary

Gene Symbol

SCN8A

Organism

Homo sapiens (human)

External Links

NCBI Gene

6334

PubChem

6334

Alliance of Genome Resources

HGNC:10596

JoGo

SCN8A

TogoVar

SCN8A

Annotation

Keyword

3D-structure
Alternative splicing
Cell junction
Cell membrane
Cell projection
Cytoplasmic vesicle
Disease variant
Disulfide bond
Epilepsy
Glycoprotein
Intellectual disability
Ion channel
Phosphoprotein
Proteomics identification
Reference proteome
Repeat
Sodium channel
Transmembrane helix
Ubl conjugation
Voltage-gated channel

Proteins

Displaying **all 3** entries
UniProt	Protein Name
Q9UQD0	Sodium channel protein type VIII subunit alpha Voltage-gated sodium channel subunit alpha Nav1.6
Q6B4S4
A0A590UK43

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 8 in total

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GO Term	Evidence Code	PMID
action potential	IDA	29726066
sodium ion transport	NAS	9828131
peripheral nervous system development	ISS
neuronal action potential	IEA
optic nerve development	IEA

GO Hierarchy

biological process

cellular process [inference]

ensheathment of neurons [inference]

axon ensheathment [inference]

myelination

transmembrane transport [inference]

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

sodium ion transmembrane transport

inorganic ion transmembrane transport [inference]

inorganic cation transmembrane transport [inference]

sodium ion transmembrane transport

developmental process [inference]

anatomical structure development [inference]

nerve development [inference]

cranial nerve development [inference]

optic nerve development

system development [inference]

peripheral nervous system development

localization [inference]

establishment of localization [inference]

transport [inference]

monoatomic ion transport [inference]

monoatomic cation transport [inference]

metal ion transport [inference]

sodium ion transport

sodium ion transmembrane transport

monoatomic cation transmembrane transport [inference]

sodium ion transmembrane transport

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

sodium ion transmembrane transport

transmembrane transport [inference]

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

sodium ion transmembrane transport

inorganic ion transmembrane transport [inference]

inorganic cation transmembrane transport [inference]

sodium ion transmembrane transport

biological regulation [inference]

regulation of biological quality [inference]

regulation of membrane potential [inference]

action potential

neuronal action potential

cardiac muscle cell action potential [inference]

cardiac muscle cell action potential involved in contraction

Displaying entries **1 - 5** of 17 in total

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GO Term	Evidence Code	PMID
voltage-gated sodium channel complex	IC	9828131
voltage-gated sodium channel complex	IDA	36696443 36823201
voltage-gated sodium channel complex	IBA
podosome	IEA
plasma membrane	IDA	29726066

GO Hierarchy

cellular component

protein-containing complex [inference]

membrane protein complex [inference]

plasma membrane protein complex [inference]

voltage-gated sodium channel complex

transmembrane transporter complex [inference]

monoatomic ion channel complex [inference]

cation channel complex [inference]

sodium channel complex [inference]

voltage-gated sodium channel complex

transporter complex [inference]

transmembrane transporter complex [inference]

monoatomic ion channel complex [inference]

cation channel complex [inference]

sodium channel complex [inference]

voltage-gated sodium channel complex

cellular anatomical entity [inference]

membrane

plasma membrane

plasma membrane region [inference]

synaptic membrane [inference]

presynaptic active zone membrane

postsynaptic specialization membrane [inference]

postsynaptic density membrane

Z disc

cell junction

synapse [inference]

excitatory synapse [inference]

parallel fiber to Purkinje cell synapse

glutamatergic synapse

anchoring junction

node of Ranvier

cell projection [inference]

plasma membrane bounded cell projection [inference]

neuron projection [inference]

axon

axon initial segment

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle

intracellular membrane-bounded organelle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

podosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle

intracellular non-membrane-bounded organelle [inference]

podosome

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
voltage-gated sodium channel activity	NAS	9828131
voltage-gated sodium channel activity	IDA	21078353 25239001 29726066 36696443 36823201
voltage-gated sodium channel activity	IMP	25725044
voltage-gated sodium channel activity	IBA
protein binding	IPI	22364545 25659151 26900580

GO Hierarchy

molecular function

transporter activity [inference]

transmembrane transporter activity [inference]

monoatomic ion transmembrane transporter activity [inference]

monoatomic ion channel activity [inference]

monoatomic cation channel activity [inference]

sodium channel activity [inference]

voltage-gated sodium channel activity

monoatomic cation transmembrane transporter activity [inference]

monoatomic cation channel activity [inference]

sodium channel activity [inference]

voltage-gated sodium channel activity

metal ion transmembrane transporter activity [inference]

sodium ion transmembrane transporter activity [inference]

sodium channel activity [inference]

voltage-gated sodium channel activity

inorganic molecular entity transmembrane transporter activity [inference]

inorganic cation transmembrane transporter activity [inference]

metal ion transmembrane transporter activity [inference]

sodium ion transmembrane transporter activity [inference]

sodium channel activity [inference]

voltage-gated sodium channel activity

passive transmembrane transporter activity [inference]

channel activity [inference]

monoatomic ion channel activity [inference]

monoatomic cation channel activity [inference]

sodium channel activity [inference]

voltage-gated sodium channel activity

salt transmembrane transporter activity [inference]

sodium ion transmembrane transporter activity [inference]

sodium channel activity [inference]

voltage-gated sodium channel activity

binding [inference]

protein binding

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

alkali metal ion binding [inference]

sodium ion binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

sodium channel protein

Functional Category

E: Amino acid transport and metabolism
K: Transcription
P: Inorganic ion transport and metabolism
T: Signal transduction mechanisms

Displaying **all 7** entries
Gene Ontology
membrane depolarization during action potential
monoatomic ion channel activity
monoatomic ion transport
neuronal action potential
sodium channel activity
sodium ion transmembrane transport
voltage-gated sodium channel activity

Displaying **all 7** entries
InterPro
Ion transport domain
Sodium ion transport-associated domain
Voltage gated sodium channel, alpha subunit
Voltage-dependent channel domain superfamily
Voltage-gated Na+ ion channel, cytoplasmic domain
Voltage-gated cation channel calcium and sodium
Voltage-gated sodium channel alpha subunit, inactivation gate

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0080445	developmental and epileptic encephalopathy 13	Alliance of Genome Resources
DOID:0081118	benign familial infantile seizures 5	Alliance of Genome Resources