Nav2.1
Description: neuron navigator 2 Gene: Nav2 Synonyms: nav2.1, scn6a, nav2.3
Introduction
SCN7A (also known as SCN6A) encodes the voltage gated, type 7, sodium channel alpha unit Nav2.1.
http://www.ncbi.nlm.nih.gov/gene/6332
The 7.2-kilobase cDNA sequence, designated hNav2.1, predicts a 1682-amino acid protein that bears 52%, 49%, and 46% overall identity with sodium channels cloned from rat brain, skeletal muscle, and heart, respectively. [873]
Until recently, all cloned vertebrate voltage-dependent sodium channels exhibited high sequence homology to one another and appeared to comprise a single multigene subfamily. An exception is the human Nav2.1 channel proposed to represent a second Na+ channel (NaCh) gene subfamily since comparison with previously cloned voltage-gated NaChs revealed only 40-45% identity. [872]
Transcript
Acc No | Sequence | Length | Source | |
---|---|---|---|---|
NM_138529 | n/A | n/A | NCBI | |
NM_175272 | n/A | n/A | NCBI | |
NM_001111016 | n/A | n/A | NCBI | |
NM_182964 | n/A | n/A | NCBI | |
NM_145117 | n/A | n/A | NCBI | |
NM_001111018 | n/A | n/A | NCBI | |
NM_001111019 | n/A | n/A | NCBI |
Ontology
Accession | Name | Definition | Evidence | |||||||
---|---|---|---|---|---|---|---|---|---|---|
GO:0031012 | extracellular matrix | A structure lying external to one or more cells, which provides structural support for cells or tissues; may be completely external to the cell (as in animals) or be part of the cell (as in plants). | IEA | |||||||
GO:0005737 | cytoplasm | All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. | IEA | |||||||
GO:0005614 | interstitial matrix | A type of extracellular matrix found in interstitial connective tissue, characterized by the presence of fibronectins, proteoglycans, and types I, III, V, VI, VII and XII collagens. | IEA | |||||||
GO:0005634 | nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. | IEA |
Interaction
Protein
Positively charged S4 segments are present in hNav2. 1, but there are fewer basic residues in repeat domains 1, 3, and 4 than in other cloned sodium channels. [873]
Attempts to express functional Nav2.1 channels using heterologous expression systems such as Xenopus oocytes, Chinese hamster ovary cells, and human embryonic kidney-293 cells have been unsuccessful [872], [879], suggesting the requirement of an as-yet unidentified partner. [875]
Distribution
Nav2.1 is prominently expressed in both heart and uterus. [873]
mNav2.3 mRNA was most abundant in heart and uterus, and the transcript levels in heart, brain, and skeletal muscle were differentially regulated during development. Transcript levels in heart were greatest immediately after birth. mNav2.3 transcript levels in pregnant uterus increased 3-fold between day 15 of pregnancy and birth and then declined 15-fold during the 2 days following delivery. [872]
Brugada syndrome, first described in 1992, has a high risk of sudden cardiac death. Nav2.1 was strongly expressed in the hearts of patients with Brugada syndrome. [875]
Gaborit claimed 2008 [875] that Nav2.1 is a Na-channel with unknown function so far.
Kinetics
Model
References
George AL
et al.
Molecular cloning of an atypical voltage-gated sodium channel expressed in human heart and uterus: evidence for a distinct gene family.
Proc. Natl. Acad. Sci. U.S.A.,
1992
Jun
1
, 89 (4893-7).
George AL
et al.
Assignment of a human voltage-dependent sodium channel alpha-subunit gene (SCN6A) to 2q21-q23.
Genomics,
1994
Jan
15
, 19 (395-7).
Gaborit N
et al.
Transcriptional profiling of ion channel genes in Brugada syndrome and other right ventricular arrhythmogenic diseases.
Eur. Heart J.,
2009
Feb
, 30 (487-96).
Zhang KX
et al.
[Association of single nucleotide polymorphism in human SCN7A gene with essential hypertension in Chinese]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi,
2003
Dec
, 20 (463-7).
Goldin AL
et al.
Nomenclature of voltage-gated sodium channels.
Neuron,
2000
Nov
, 28 (365-8).
Akopian AN
et al.
Structure and distribution of a broadly expressed atypical sodium channel.
FEBS Lett.,
1997
Jan
3
, 400 (183-7).
Credits
To cite this page: [Contributors] Channelpedia https://channelpedia.epfl.ch/ionchannels/129/ , accessed on [date]