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Nav2.1

neuron navigator 2
Synonyms: nav2.1 scn6a nav2.3. Symbol: Nav2

Introductions


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

Genes


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]

Nav2 : neuron navigator 2

RGD ID Chromosome Position Species
619778 1 99041044-99410077 Rat
1619832 7 56214443-56865458 Mouse
1320655 11 19372271-20143147 Human

Transcripts


Acc No Sequence Length Source
NM_138529 NCBI
NM_175272 NCBI
NM_001111016 NCBI
NM_182964 NCBI
NM_145117 NCBI
NM_001111018 NCBI
NM_001111019 NCBI

Ontologies


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

Interactions


Proteins


Structures


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]

Distributions


Expressions


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]

Functionals


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


Models


References


[873 : 1317577]
[874 : 8188276]
[875 : 19029124]
[877 : 14669210]
[878 : 11144347]
[879 : 9001394]

Credits