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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
7
Cytoband
q36.1
Chromosome location (bp)
151048292 - 151052756
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Generates a biphasic current with a fast inactivating and a slow sustained phase. In sensory neurons is proposed to mediate the pain induced by acidosis that occurs in ischemic, damaged or inflamed tissue. May be involved in hyperalgesia. May play a role in mechanoreception. Heteromeric channel assembly seems to modulate channel properties....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Ion channel, Sodium channel
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Ion transport, Sodium transport, Transport
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Sodium
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, two hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene is an acid sensor and may play an important role in the detection of lasting pH changes. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 2 has been observed as proton-gated channels sensitive to gadolinium. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
GO:0005261[cation channel activity] GO:0005272[sodium channel activity] GO:0005737[cytoplasm] GO:0005886[plasma membrane] GO:0006811[ion transport] GO:0006812[cation transport] GO:0006814[sodium ion transport] GO:0007165[signal transduction] GO:0007600[sensory perception] GO:0009408[response to heat] GO:0009612[response to mechanical stimulus] GO:0010447[response to acidic pH] GO:0015280[ligand-gated sodium channel activity] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0034220[ion transmembrane transport] GO:0035725[sodium ion transmembrane transport] GO:0042930[enterobactin transport] GO:0042931[enterobactin transmembrane transporter activity] GO:0044736[acid-sensing ion channel activity] GO:0048471[perinuclear region of cytoplasm] GO:0050907[detection of chemical stimulus involved in sensory perception] GO:0050915[sensory perception of sour taste] GO:0050961[detection of temperature stimulus involved in sensory perception] GO:0050965[detection of temperature stimulus involved in sensory perception of pain] GO:0050966[detection of mechanical stimulus involved in sensory perception of pain] GO:0050968[detection of chemical stimulus involved in sensory perception of pain] GO:0050974[detection of mechanical stimulus involved in sensory perception] GO:0051649[establishment of localization in cell] GO:0098662[inorganic cation transmembrane transport]
The Human Protein Atlas project is funded
