Homo sapiens Gene: SCN7A
Summary
InnateDB Gene IDBG-74239.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SCN7A
Gene Name sodium channel, voltage-gated, type VII, alpha subunit
Synonyms NaG; Nav2.1; Nav2.2; SCN6A;
Species Homo sapiens
Ensembl Gene ENSG00000136546
Encoded Proteins
sodium channel, voltage-gated, type VII, alpha
sodium channel, voltage-gated, type VII, alpha
sodium channel, voltage-gated, type VII, alpha
sodium channel, voltage-gated, type VII, alpha
sodium channel, voltage-gated, type VII, alpha subunit
sodium channel, voltage-gated, type VII, alpha subunit
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane depolarization. This sodium channel protein has some atypical characteristics; the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. Also, the S4 segments, which sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer arginine and lysine residues compared to other sodium channel proteins. Several alternatively spliced transcript variants exist, but the full-length natures of all of them remain unknown. [provided by RefSeq, Dec 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:166403573-166494247
Strand Reverse strand
Band q24.3
Transcripts
ENST00000409855 ENSP00000386796
ENST00000424326 ENSP00000396600
ENST00000419992 ENSP00000413699
ENST00000441411 ENSP00000403846
ENST00000497562
ENST00000619410 ENSP00000478562
ENST00000621965 ENSP00000481734
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0005216 ion channel activity
GO:0005248 voltage-gated sodium channel activity
GO:0005272 sodium channel activity
GO:0005515 protein binding
Biological Process
GO:0006811 ion transport
GO:0006814 sodium ion transport
GO:0006936 muscle contraction
GO:0019228 neuronal action potential
GO:0034765 regulation of ion transmembrane transport
GO:0035725 sodium ion transmembrane transport
GO:0055078 sodium ion homeostasis
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:0097386 glial cell projection
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Developmental Biology pathway
Interaction between L1 and Ankyrins pathway
Axon guidance pathway
L1CAM interactions pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL C9JII9 C9JW43 Q16278
UniProt Splice Variant
Entrez Gene 6332
UniGene
RefSeq NM_002976 XM_006712680 XM_006712681 XM_006712682
HUGO HGNC:10594
OMIM 182392
CCDS CCDS46442
HPRD
IMGT
EMBL AC074101 AC092583 M91556 S75992
GenPept AAA59899 AAD14203
RNA Seq Atlas 6332