InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: SCN8A

Summary

InnateDB Gene

IDBG-33569.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SCN8A

Gene Name

sodium channel, voltage gated, type VIII, alpha subunit

Synonyms

CERIII; CIAT; EIEE13; MED; NaCh6; Nav1.6; PN4

Species

Homo sapiens

Ensembl Gene

ENSG00000196876

Encoded Proteins

IDBP-33571

sodium channel, voltage gated, type VIII, alpha subunit

IDBP-33573

sodium channel, voltage gated, type VIII, alpha subunit

IDBP-595328

sodium channel, voltage gated, type VIII, alpha subunit

IDBP-588374

sodium channel, voltage gated, type VIII, alpha subunit

IDBP-584069

sodium channel, voltage gated, type VIII, alpha subunit

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with mental retardation, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 12:51590266-51812864

Strand

Forward strand

Band

q13.13

Transcripts

ENST00000354534	ENSP00000346534
ENST00000355133	ENSP00000347255
ENST00000546961
ENST00000550891	ENSP00000448415
ENST00000551216	ENSP00000447567
ENST00000548086
ENST00000545061	ENSP00000440360

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005216	ion channel activity
GO:0005248	voltage-gated sodium channel activity
GO:0005515	protein binding
GO:0005524	ATP binding

Biological Process

GO:0006811	ion transport
GO:0006814	sodium ion transport
GO:0007399	nervous system development
GO:0007411	axon guidance
GO:0007422	peripheral nervous system development
GO:0007517	muscle organ development
GO:0007605	sensory perception of sound
GO:0007626	locomotory behavior
GO:0007628	adult walking behavior
GO:0008344	adult locomotory behavior
GO:0009636	response to toxic substance
GO:0019228	neuronal action potential
GO:0034220	ion transmembrane transport
GO:0034765	regulation of ion transmembrane transport
GO:0035725	sodium ion transmembrane transport
GO:0042552	myelination
GO:0050905	neuromuscular process
GO:0055085	transmembrane transport
GO:0086010	membrane depolarization during action potential

Cellular Component

GO:0001518	voltage-gated sodium channel complex
GO:0005886	plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016023	cytoplasmic membrane-bounded vesicle
GO:0030018	Z disc
GO:0030425	dendrite
GO:0033268	node of Ranvier
GO:0034706	sodium channel complex
GO:0043025	neuronal cell body
GO:0043194	axon initial segment

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000023033

View Gene Order

ENSBTAG00000021339

Not yet available

Pathways

NETPATH

REACTOME

REACT_22266

Interaction between L1 and Ankyrins pathway

REACT_22205

L1CAM interactions pathway

REACT_111045

Developmental Biology pathway

REACT_18266

Axon guidance pathway

KEGG

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.436550 Hs.710638

RefSeq

NM_001177984 NM_014191 XM_006719556

HUGO

OMIM

CCDS

CCDS44891 CCDS53794

HPRD

09006

IMGT

EMBL

GenPept

RNA Seq Atlas