Scn8a sodium channel, voltage-gated, type VIII, alpha [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Scn8aprovided by MGI
Official Full Name: sodium channel, voltage-gated, type VIII, alphaprovided by MGI
Primary source: MGI:MGI:103169
See related: Ensembl:ENSMUSG00000023033 AllianceGenome:MGI:103169
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: dmu; med; mnd2; nmf2; seal; NaCh6; mnd-2; nmf58; nur14; Nav1.6; nmf335; C630029C19Rik
Summary: Predicted to enable sodium ion binding activity and voltage-gated sodium channel activity. Acts upstream of or within several processes, including adult walking behavior; muscle organ development; and sensory perception of sound. Located in several cellular components, including Z disc; neuronal cell body; and node of Ranvier. Part of sodium channel complex. Is expressed in several structures, including gut; hemolymphoid system gland; metanephros; nervous system; and testis. Used to study early infantile epileptic encephalopathy and epilepsy. Human ortholog(s) of this gene implicated in benign familial infantile seizures 5 and developmental and epileptic encephalopathy 13. Orthologous to human SCN8A (sodium voltage-gated channel alpha subunit 8). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in cortex adult (RPKM 21.8), cerebellum adult (RPKM 21.1) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 56.39 cM; 15 F1

Exon count:: 31

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (100766600..100943819)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (100869863..101045938)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Parvalbumin interneuron impairment causes synaptic transmission deficits and seizures in SCN8A developmental and epileptic encephalopathy.
Title: Parvalbumin interneuron impairment causes synaptic transmission deficits and seizures in SCN8A developmental and epileptic encephalopathy.
Dentate gyrus granule cells are a locus of pathology in Scn8a developmental encephalopathy.
Title: Dentate gyrus granule cells are a locus of pathology in Scn8a developmental encephalopathy.
Cardiac-Specific Deletion of Scn8a Mitigates Dravet Syndrome-Associated Sudden Death in Adults.
Title: Cardiac-Specific Deletion of Scn8a Mitigates Dravet Syndrome-Associated Sudden Death in Adults.
Experimental and computational evidence that Calpain-10 binds to the carboxy terminus of NaV1.2 and NaV1.6.
Title: Experimental and computational evidence that Calpain-10 binds to the carboxy terminus of Na(V)1.2 and Na(V)1.6.
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.
Title: Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.
Persistent Nav1.1 and Nav1.6 currents drive spinal locomotor functions through nonlinear dynamics.
Title: Persistent Nav1.1 and Nav1.6 currents drive spinal locomotor functions through nonlinear dynamics.
Role of NaV1.6-mediated persistent sodium current and bursting-pacemaker properties in breathing rhythm generation.
Title: Role of Na(V)1.6-mediated persistent sodium current and bursting-pacemaker properties in breathing rhythm generation.
Cryo-EM structure of human voltage-gated sodium channel Nav1.6.
Title: Cryo-EM structure of human voltage-gated sodium channel Na(v)1.6.
Genetic interaction between Scn8a and potassium channel genes Kcna1 and Kcnq2.
Title: Genetic interaction between Scn8a and potassium channel genes Kcna1 and Kcnq2.
Reducing Nav1.6 expression attenuates the pathogenesis of Alzheimer's disease by suppressing BACE1 transcription.
Title: Reducing Nav1.6 expression attenuates the pathogenesis of Alzheimer's disease by suppressing BACE1 transcription.

Submit: New GeneRIF Correction See all GeneRIFs (98)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (10) 1 citation
Endonuclease-mediated (9) 1 citation
Gene trapped (1)
Spontaneous (8) 1 citation
Targeted (2) 1 citation
Transgenic (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Scn1a (e-PCR), detects polymorphism
- UniSTS:516635

Scn4a (e-PCR), detects polymorphism
- UniSTS:516642

Scn8a (e-PCR), detects polymorphism
- UniSTS:516646

AI853486 (e-PCR)
- UniSTS:165966

Scn8a (e-PCR), detects polymorphism
- UniSTS:256631

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sodium ion binding	ISO Inferred from Sequence Orthology more info
enables sodium ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables voltage-gated sodium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables voltage-gated sodium channel activity	ISO Inferred from Sequence Orthology more info
enables voltage-gated sodium channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables voltage-gated sodium channel activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within adult walking behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane depolarization during action potential	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within muscle organ development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within nerve development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within nerve development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuronal action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuronal action potential	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to toxic substance	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sodium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in sodium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in sodium ion transport	ISO Inferred from Sequence Orthology more info
involved_in sodium ion transport	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in axon	ISO Inferred from Sequence Orthology more info
located_in axon initial segment	ISO Inferred from Sequence Orthology more info
located_in cell junction	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
located_in node of Ranvier	IDA Inferred from Direct Assay more info	PubMed
located_in node of Ranvier	ISO Inferred from Sequence Orthology more info
is_active_in parallel fiber to Purkinje cell synapse	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in podosome	IEA Inferred from Electronic Annotation more info
is_active_in postsynaptic density membrane	ISO Inferred from Sequence Orthology more info
is_active_in presynaptic active zone membrane	ISO Inferred from Sequence Orthology more info
part_of sodium channel complex	IPI Inferred from Physical Interaction more info	PubMed
part_of voltage-gated sodium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of voltage-gated sodium channel complex	IC Inferred by Curator more info	PubMed
part_of voltage-gated sodium channel complex	ISO Inferred from Sequence Orthology more info
part_of voltage-gated sodium channel complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: sodium channel protein type 8 subunit alpha

Names: ataxia 3; sodium channel protein type VIII subunit alpha; voltage-gated sodium channel alpha subunit; voltage-gated sodium channel subunit alpha Nav1.6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001077499.2 → NP_001070967.1 sodium channel protein type 8 subunit alpha isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes isoform 1.

Source sequence(s)

AC104834, AK083220, AK158609, CJ128345

Consensus CDS

CCDS57010.1

UniProtKB/Swiss-Prot

Q3TYI3, Q60828, Q60858, Q62449, Q9WTU3

UniProtKB/TrEMBL

F6U329

Related

ENSMUSP00000080842.7, ENSMUST00000082209.13

Conserved Domains (5) summary

smart00015
Location:1892 → 1913

IQ; Calmodulin-binding motif

cd13433
Location:1463 → 1515

Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits

pfam00520
Location:1213 → 1471

Ion_trans; Ion transport protein

pfam06512
Location:989 → 1190

Na_trans_assoc; Sodium ion transport-associated

pfam11933
Location:502 → 611

Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
NM_011323.3 → NP_035453.2 sodium channel protein type 8 subunit alpha isoform 2

See identical proteins and their annotated locations for NP_035453.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an in-frame exon and contains an alternate in-frame exon compared to variant 1. The encoded isoform (2) is the same length as isoform 1 but has a distinct sequence.

Source sequence(s)

AC104834, AF049617, AK083220, AK158609, AK160844

Consensus CDS

CCDS57011.1

UniProtKB/Swiss-Prot

Q3TYI3, Q60828, Q60858, Q62449, Q9WTU3

UniProtKB/TrEMBL

F7D6H8, F7D6K4

Related

ENSMUSP00000104538.4, ENSMUST00000108910.10

Conserved Domains (6) summary

smart00015
Location:1892 → 1913

IQ; Calmodulin-binding motif

cd13433
Location:1463 → 1515

Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits

pfam00520
Location:1195 → 1471

Ion_trans; Ion transport protein

pfam06512
Location:989 → 1190

Na_trans_assoc; Sodium ion transport-associated

pfam11933
Location:504 → 700

Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel

pfam16905
Location:1786 → 1833

GPHH; Voltage-dependent L-type calcium channel, IQ-associated

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000081.7 Reference GRCm39 C57BL/6J

Range

100766600..100943819

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017316516.3 → XP_017172005.1 sodium channel protein type 8 subunit alpha isoform X2

UniProtKB/Swiss-Prot

Q3TYI3, Q60828, Q60858, Q62449, Q9WTU3

Conserved Domains (6) summary

smart00015
Location:1902 → 1923

IQ; Calmodulin-binding motif

cd13433
Location:1473 → 1525

Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits

pfam00520
Location:1205 → 1481

Ion_trans; Ion transport protein

pfam06512
Location:999 → 1200

Na_trans_assoc; Sodium ion transport-associated

pfam11933
Location:504 → 710

Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel

pfam16905
Location:1796 → 1843

GPHH; Voltage-dependent L-type calcium channel, IQ-associated
XM_006520656.3 → XP_006520719.1 sodium channel protein type 8 subunit alpha isoform X6

UniProtKB/Swiss-Prot

Q3TYI3, Q60828, Q60858, Q62449, Q9WTU3

UniProtKB/TrEMBL

A0A0J9YUW5

Related

ENSMUSP00000144371.2, ENSMUST00000200963.4

Conserved Domains (6) summary

smart00015
Location:1851 → 1872

IQ; Calmodulin-binding motif

cd13433
Location:1422 → 1474

Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits

pfam00520
Location:1479 → 1733

Ion_trans; Ion transport protein

pfam06512
Location:989 → 1190

Na_trans_assoc; Sodium ion transport-associated

pfam11933
Location:504 → 700

Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel

pfam16905
Location:1745 → 1792

GPHH; Voltage-dependent L-type calcium channel, IQ-associated
XM_017316512.3 → XP_017172001.1 sodium channel protein type 8 subunit alpha isoform X1

UniProtKB/Swiss-Prot

Q3TYI3, Q60828, Q60858, Q62449, Q9WTU3

UniProtKB/TrEMBL

F7D6J5

Conserved Domains (6) summary

smart00015
Location:1902 → 1923

IQ; Calmodulin-binding motif

cd13433
Location:1473 → 1525

Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits

pfam00520
Location:1205 → 1481

Ion_trans; Ion transport protein

pfam06512
Location:999 → 1200

Na_trans_assoc; Sodium ion transport-associated

pfam11933
Location:504 → 710

Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel

pfam16905
Location:1796 → 1843

GPHH; Voltage-dependent L-type calcium channel, IQ-associated
XM_017316517.3 → XP_017172006.1 sodium channel protein type 8 subunit alpha isoform X4

UniProtKB/Swiss-Prot

Q3TYI3, Q60828, Q60858, Q62449, Q9WTU3

Conserved Domains (6) summary

smart00015
Location:1861 → 1882

IQ; Calmodulin-binding motif

cd13433
Location:1432 → 1484

Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits

pfam00520
Location:1489 → 1743

Ion_trans; Ion transport protein

pfam06512
Location:999 → 1200

Na_trans_assoc; Sodium ion transport-associated

pfam11933
Location:504 → 710

Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel

pfam16905
Location:1755 → 1802

GPHH; Voltage-dependent L-type calcium channel, IQ-associated
XM_006520651.3 → XP_006520714.1 sodium channel protein type 8 subunit alpha isoform X3

See identical proteins and their annotated locations for XP_006520714.1

UniProtKB/Swiss-Prot

Q3TYI3, Q60828, Q60858, Q62449, Q9WTU3

UniProtKB/TrEMBL

F7D6H8, F7D6K4

Conserved Domains (6) summary

smart00015
Location:1892 → 1913

IQ; Calmodulin-binding motif

cd13433
Location:1463 → 1515

Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits

pfam00520
Location:1195 → 1471

Ion_trans; Ion transport protein

pfam06512
Location:989 → 1190

Na_trans_assoc; Sodium ion transport-associated

pfam11933
Location:504 → 700

Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel

pfam16905
Location:1786 → 1833

GPHH; Voltage-dependent L-type calcium channel, IQ-associated
XM_006520655.3 → XP_006520718.1 sodium channel protein type 8 subunit alpha isoform X5

UniProtKB/Swiss-Prot

Q3TYI3, Q60828, Q60858, Q62449, Q9WTU3

UniProtKB/TrEMBL

A0A0R5RP22

Conserved Domains (6) summary

smart00015
Location:1851 → 1872

IQ; Calmodulin-binding motif

cd13433
Location:1422 → 1474

Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits

pfam00520
Location:1479 → 1733

Ion_trans; Ion transport protein

pfam06512
Location:989 → 1190

Na_trans_assoc; Sodium ion transport-associated

pfam11933
Location:504 → 700

Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel

pfam16905
Location:1745 → 1792

GPHH; Voltage-dependent L-type calcium channel, IQ-associated
XM_017316515.3 → XP_017172004.1 sodium channel protein type 8 subunit alpha isoform X1

UniProtKB/Swiss-Prot

Q3TYI3, Q60828, Q60858, Q62449, Q9WTU3

UniProtKB/TrEMBL

F7D6J5

Conserved Domains (6) summary

smart00015
Location:1902 → 1923

IQ; Calmodulin-binding motif

cd13433
Location:1473 → 1525

Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits

pfam00520
Location:1205 → 1481

Ion_trans; Ion transport protein

pfam06512
Location:999 → 1200

Na_trans_assoc; Sodium ion transport-associated

pfam11933
Location:504 → 710

Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel

pfam16905
Location:1796 → 1843

GPHH; Voltage-dependent L-type calcium channel, IQ-associated
XM_017316519.3 → XP_017172008.1 sodium channel protein type 8 subunit alpha isoform X7

Conserved Domains (3) summary

pfam00520
Location:760 → 973

Ion_trans; Ion transport protein

pfam06512
Location:999 → 1200

Na_trans_assoc; Sodium ion transport-associated

pfam11933
Location:504 → 710

Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
XM_017316513.2 → XP_017172002.1 sodium channel protein type 8 subunit alpha isoform X1

UniProtKB/Swiss-Prot

Q3TYI3, Q60828, Q60858, Q62449, Q9WTU3

UniProtKB/TrEMBL

F7D6J5

Related

ENSMUSP00000104537.4, ENSMUST00000108909.9

Conserved Domains (6) summary

smart00015
Location:1902 → 1923

IQ; Calmodulin-binding motif

cd13433
Location:1473 → 1525

Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits

pfam00520
Location:1205 → 1481

Ion_trans; Ion transport protein

pfam06512
Location:999 → 1200

Na_trans_assoc; Sodium ion transport-associated

pfam11933
Location:504 → 710

Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel

pfam16905
Location:1796 → 1843

GPHH; Voltage-dependent L-type calcium channel, IQ-associated
XM_017316514.2 → XP_017172003.1 sodium channel protein type 8 subunit alpha isoform X1

UniProtKB/Swiss-Prot

Q3TYI3, Q60828, Q60858, Q62449, Q9WTU3

UniProtKB/TrEMBL

F7D6J5

Conserved Domains (6) summary

smart00015
Location:1902 → 1923

IQ; Calmodulin-binding motif

cd13433
Location:1473 → 1525

Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits

pfam00520
Location:1205 → 1481

Ion_trans; Ion transport protein

pfam06512
Location:999 → 1200

Na_trans_assoc; Sodium ion transport-associated

pfam11933
Location:504 → 710

Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel

pfam16905
Location:1796 → 1843

GPHH; Voltage-dependent L-type calcium channel, IQ-associated