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Sodium channel protein type 2 subunit alpha

Summary

UniProt ID: Q99250
Gene Symbol: SCN2A HBA NAC2 SCN2A1 SCN2A2
Gene ID: 6326
Organism: Homo sapiens (human)

External Links

GlyGen: Q99250
PubChem: Q99250
The Human Metabolome Database: HMDBP09080
Re-Glyco: Q99250

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

Gene Ontology (GO)

Displaying entries **1 - 5** of 12 in total

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GO Term	Evidence Code	Reference
sodium ion transport	ISS	GO_REF
sodium ion transport	IEA	GO_REF
nervous system development	ISS	GO_REF
memory	ISS	GO_REF
intrinsic apoptotic signaling pathway in response to osmotic stress	ISS	GO_REF

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 [inference]

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

animal gross anatomical part developmental process [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 [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

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 [inference]

neuronal action potential

cardiac muscle cell action potential [inference]

cardiac muscle cell action potential involved in contraction

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GO Term	Evidence Code	Reference
voltage-gated sodium channel complex	ISS	GO_REF
voltage-gated sodium channel complex	IBA	GO_REF
voltage-gated sodium channel complex	IEA	GO_REF
plasma membrane	ISS	GO_REF
plasma membrane	IDA	PMID PMID PMID

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 6 in total

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GO Term	Evidence Code	Reference
voltage-gated sodium channel activity	ISS	GO_REF
voltage-gated sodium channel activity	IDA	PMID
voltage-gated sodium channel activity	IMP	PMID PMID PMID
voltage-gated sodium channel activity	IBA	GO_REF
voltage-gated sodium channel activity	IEA	GO_REF GO_REF

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

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

binding [inference]

protein binding [inference]

calmodulin binding

Gene Ontology information from UniProt.

Annotation information from UniProt.

Sequence

MAQSVLVPPGPDSFRFFTRESLAAIEQRIAEEKAKRPKQERKDEDDENGPKPNSDLEAGKSLPFIYGDIPPEMVSVPLEDLDPYYINKKTFIVLNKGKAISRFSATPALYILTPFNPIRKLAIKILVHSLFNMLIMCTILTNCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKILARGFCLEDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCLQWPPDNSSFEINITSFFNNSLDGNGTTFNRTVSIFNWDEYIEDKSHFYFLEGQNDALLCGNSSDAGQCPEGYICVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLILAVVAMAYEEQNQATLEEAEQKEAEFQQMLEQLKKQQEEAQAAAAAASAESRDFSGAGGIGVFSESSSVASKLSSKSEKELKNRRKKKKQKEQSGEEEKNDRVRKSESEDSIRRKGFRFSLEGSRLTYEKRFSSPHQSLLSIRGSLFSPRRNSRASLFSFRGRAKDIGSENDFADDEHSTFEDNDSRRDSLFVPHRHGERRHSNVSQASRASRVLPILPMNGKMHSAVDCNGVVSLVGGPSTLTSAGQLLPEGTTTETEIRKRRSSSYHVSMDLLEDPTSRQRAMSIASILTNTMEELEESRQKCPPCWYKFANMCLIWDCCKPWLKVKHLVNLVVMDPFVDLAITICIVLNTLFMAMEHYPMTEQFSSVLSVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIVSLSLMELGLANVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKECVCKISNDCELPRWHMHDFFHSFLIVFRVLCGEWIETMWDCMEVAGQTMCLTVFMMVMVIGNLVVLNLFLALLLSSFSSDNLAATDDDNEMNNLQIAVGRMQKGIDFVKRKIREFIQKAFVRKQKALDEIKPLEDLNNKKDSCISNHTTIEIGKDLNYLKDGNGTTSGIGSSVEKYVVDESDYMSFINNPSLTVTVPIAVGESDFENLNTEEFSSESDMEESKEKLNATSSSEGSTVDIGAPAEGEQPEVEPEESLEPEACFTEDCVRKFKCCQISIEEGKGKLWWNLRKTCYKIVEHNWFETFIVFMILLSSGALAFEDIYIEQRKTIKTMLEYADKVFTYIFILEMLLKWVAYGFQVYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCINYTTGEMFDVSVVNNYSECKALIESNQTARWKNVKVNFDNVGLGYLSLLQVATFKGWMDIMYAAVDSRNVELQPKYEDNLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPANKFQGMVFDFVTKQVFDISIMILICLNMVTMMVETDDQSQEMTNILYWINLVFIVLFTGECVLKLISLRYYYFTIGWNIFDFVVVILSIVGMFLAELIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMSNFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSGPPDCDPDKDHPGSSVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPLSEDDFEMFYEVWEKFDPDATQFIEFAKLSDFADALDPPLLIAKPNKVQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDALRIQMEERFMASNPSKVSYEPITTTLKRKQEEVSAIIIQRAYRRYLLKQKVKKVSSIYKKDKGKECDGTPIKEDTLIDKLNENSTPEKTDMTPSTTSPPSYDSVTKPEKEKFEKDKSEKEDKGKDIRESKK

N : N-glycosylation Site
___ : Potential Sequon

Glycosylation Sites

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Position	Description	PubMed ID	Source
106			GlyGen
212	N-linked (GlcNAc...) asparagine		UniProt GlyGen
285	N-linked (GlcNAc...) asparagine		UniProt GlyGen
291	N-linked (GlcNAc...) asparagine		UniProt GlyGen
297	N-linked (GlcNAc...) asparagine		UniProt GlyGen
303	N-linked (GlcNAc...) asparagine		UniProt GlyGen
308	N-linked (GlcNAc...) asparagine		UniProt GlyGen
340	N-linked (GlcNAc...) asparagine	30765605	UniProt GlyGen
1368	N-linked (GlcNAc...) asparagine	30765605	UniProt GlyGen
1382	N-linked (GlcNAc...) asparagine	30765605	UniProt GlyGen

Feature

: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt

Pathway

Displaying **all 3** entries
Pathway Name	Organism
Interaction between L1 and Ankyrins	Homo sapiens
Phase 0 - rapid depolarisation	Homo sapiens
Sensory perception of sweet, bitter, and umami (glutamate) taste	Homo sapiens

Human Protein Atlas

ENSG00000136531

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

Disease

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

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

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Summary

External Links

Annotation

International Collaboration

Acknowledgements