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sodium voltage-gated channel alpha subunit 2

Summary

Gene Symbol

SCN2A

Organism

Homo sapiens (human)

External Links

NCBI Gene

6326

KEGG Gene ID

PubChem

6326

Alliance of Genome Resources

HGNC:10588

Annotation

Keyword

3D-structure
Alternative splicing
Cell membrane
Disease variant
Disulfide bond
Epilepsy
Glycoprotein
Isopeptide bond
Phosphoprotein
Proteomics identification
Reference proteome
Repeat
Sodium channel
Transmembrane helix
Ubl conjugation
Voltage-gated channel

Proteins

Displaying 1 entry
UniProt	Protein Name
Q99250	HBSC II Sodium channel protein brain II subunit alpha Sodium channel protein type II subunit alpha Voltage-gated sodium channel subunit alpha Nav1.2

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 16 in total

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GO Term	Evidence Code	PMID
action potential	IEA
monoatomic ion transport	IEA
ion transport	IEA
sodium ion transport	ISS
sodium ion transport	IEA

GO Hierarchy

biological process

cellular process [inference]

signal transduction [inference]

intracellular signal transduction [inference]

intrinsic apoptotic signaling pathway [inference]

intrinsic apoptotic signaling pathway in response to osmotic stress

apoptotic signaling pathway [inference]

intrinsic apoptotic signaling pathway [inference]

intrinsic apoptotic signaling pathway in response to osmotic stress

ensheathment of neurons [inference]

axon ensheathment [inference]

myelination

cell death [inference]

programmed cell death [inference]

apoptotic process [inference]

neuron apoptotic process

cellular response to stimulus [inference]

cellular response to stress [inference]

cellular response to chemical stress [inference]

cellular response to osmotic stress [inference]

intrinsic apoptotic signaling pathway in response to osmotic stress

cellular response to hypoxia

cellular response to chemical stimulus [inference]

cellular response to chemical stress [inference]

cellular response to osmotic stress [inference]

intrinsic apoptotic signaling pathway in response to osmotic stress

cellular response to oxygen levels [inference]

cellular response to decreased oxygen levels [inference]

cellular response to hypoxia

cellular response to environmental stimulus [inference]

cellular response to abiotic stimulus [inference]

cellular response to osmotic stress [inference]

intrinsic apoptotic signaling pathway in response to osmotic stress

transmembrane transport

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

sodium ion transmembrane transport

multicellular organismal process [inference]

system process [inference]

nervous system process [inference]

cognition [inference]

learning or memory [inference]

memory

behavior [inference]

learning or memory [inference]

memory

developmental process [inference]

anatomical structure development [inference]

system development [inference]

nervous system development

response to stimulus [inference]

response to stress [inference]

response to hypoxia [inference]

cellular response to hypoxia

response to osmotic stress [inference]

cellular response to osmotic stress [inference]

intrinsic apoptotic signaling pathway in response to osmotic stress

cellular response to stress [inference]

cellular response to chemical stress [inference]

cellular response to osmotic stress [inference]

intrinsic apoptotic signaling pathway in response to osmotic stress

cellular response to hypoxia

response to abiotic stimulus [inference]

response to osmotic stress [inference]

cellular response to osmotic stress [inference]

intrinsic apoptotic signaling pathway in response to osmotic stress

response to oxygen levels [inference]

response to decreased oxygen levels [inference]

response to hypoxia [inference]

cellular response to hypoxia

cellular response to decreased oxygen levels [inference]

cellular response to hypoxia

cellular response to oxygen levels [inference]

cellular response to decreased oxygen levels [inference]

cellular response to hypoxia

cellular response to abiotic stimulus [inference]

cellular response to osmotic stress [inference]

intrinsic apoptotic signaling pathway in response to osmotic stress

response to chemical [inference]

cellular response to chemical stimulus [inference]

cellular response to chemical stress [inference]

cellular response to osmotic stress [inference]

intrinsic apoptotic signaling pathway in response to osmotic stress

cellular response to oxygen levels [inference]

cellular response to decreased oxygen levels [inference]

cellular response to hypoxia

cellular response to stimulus [inference]

cellular response to stress [inference]

cellular response to chemical stress [inference]

cellular response to osmotic stress [inference]

intrinsic apoptotic signaling pathway in response to osmotic stress

cellular response to hypoxia

cellular response to chemical stimulus [inference]

cellular response to chemical stress [inference]

cellular response to osmotic stress [inference]

intrinsic apoptotic signaling pathway in response to osmotic stress

cellular response to oxygen levels [inference]

cellular response to decreased oxygen levels [inference]

cellular response to hypoxia

cellular response to environmental stimulus [inference]

cellular response to abiotic stimulus [inference]

cellular response to osmotic stress [inference]

intrinsic apoptotic signaling pathway in response to osmotic stress

localization [inference]

establishment of localization [inference]

transport [inference]

monoatomic ion transport

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

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

sodium ion transmembrane transport

biological regulation [inference]

regulation of biological process [inference]

regulation of cellular process [inference]

signal transduction [inference]

intracellular signal transduction [inference]

intrinsic apoptotic signaling pathway [inference]

intrinsic apoptotic signaling pathway in response to osmotic stress

apoptotic signaling pathway [inference]

intrinsic apoptotic signaling pathway [inference]

intrinsic apoptotic signaling pathway in response to osmotic stress

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 **6 - 10** of 10 in total

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GO Term	Evidence Code	PMID
plasma membrane	IEA
membrane	ISS
membrane	IEA
axon	TAS
node of Ranvier	ISS

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 structure [inference]

membrane

plasma membrane

node of Ranvier

cell projection [inference]

plasma membrane bounded cell projection [inference]

neuron projection [inference]

axon

Displaying entries **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
ion channel activity	IEA
monoatomic ion channel activity	IEA
voltage-gated sodium channel activity	ISS
voltage-gated sodium channel activity	IDA
voltage-gated sodium channel activity	IMP

GO Hierarchy

molecular function

transporter activity [inference]

transmembrane transporter activity [inference]

monoatomic ion transmembrane transporter activity [inference]

monoatomic ion channel activity

monoatomic cation channel activity

sodium channel activity [inference]

voltage-gated sodium channel activity

monoatomic cation transmembrane transporter activity [inference]

monoatomic cation channel activity

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

passive transmembrane transporter activity [inference]

channel activity [inference]

monoatomic ion channel activity

monoatomic cation channel activity

sodium channel activity [inference]

voltage-gated sodium channel activity

binding [inference]

protein binding

calmodulin binding

Gene Ontology information from NCBI Gene and UniProt.

Disease

Disease Ontology

Displaying **all 3** entries
DO ID	Disease Name	Source
DOID:0081116	benign familial infantile seizures 3	Alliance of Genome Resources
DOID:0080421	developmental and epileptic encephalopathy 11	Alliance of Genome Resources
DOID:0060965	episodic ataxia type 9	Alliance of Genome Resources