The gene information section lists the gene name (HUGO Gene Nomenclature Committee (HGNC) name if available), any approved gene synonyms, Ensembl gene description, and the Entrez gene summary from the National Center for Biotechnology Information.
The chromosomal and cytoband location of the gene according to Ensembl is reported together with the Ensembl gene identifier and Ensembl database version. The Entrez gene identifier for the gene is also given. If any of the protein products of the gene is linked to a UniProt KB/SWISS-PROT entry, links to the UniProt and the neXtProt databases for these proteins are displayed.
Gene name
ATXN2 (HGNC Symbol)
Synonyms
ATX2, SCA2, TNRC13
Description
ataxin 2 (HGNC Symbol)
Entrez gene summary
The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is caused by expansion of a CAG repeat in the coding region of this gene. This locus has been mapped to chromosome 12, and it has been determined that the diseased allele contains 37-50 CAG repeats, compared to 17-29 in the normal allele. Longer expansions result in earlier onset of the disease. Alternatively spliced transcript variants encoding different isoforms have been identified but their full length sequence has not been determined. [provided by RefSeq, Jan 2010]
The protein view displays protein features. The tabs at the top of the protein view section can be used to switch between the different splice variants encoded by this gene. The mouse over function displays additional data for the features in the protein view.
At the top of the protein view, the maximum percent sequence identity of the protein to all other proteins from other human genes is shown, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50) (read more).
If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0 and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.
Common (purple) and unique (grey) regions between alternative processed transcripts from the same gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
The protein information section displays the alternative protein-coding transcripts (splice variants) encoded by this gene, according to the Ensembl database.
The ENSP identifier links to the Ensembl website for that protein, and the ENST identifier links to the Ensembl website for that transcript. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes to which this protein has been assigned 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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column.
The length of the protein (amino acid residues) (according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0 and Phobius and predicted transmembrane region(s) (according to MDM) are also reported.
GO:0021702 [cerebellar Purkinje cell differentiation] GO:0040015 [negative regulation of multicellular organism growth] GO:0048471 [perinuclear region of cytoplasm] GO:0048812 [neuron projection morphogenesis] GO:0048872 [homeostasis of number of cells] GO:0050905 [neuromuscular process]
GO:0021702 [cerebellar Purkinje cell differentiation] GO:0040015 [negative regulation of multicellular organism growth] GO:0048471 [perinuclear region of cytoplasm] GO:0048812 [neuron projection morphogenesis] GO:0048872 [homeostasis of number of cells] GO:0050905 [neuromuscular process]
GO:0021702 [cerebellar Purkinje cell differentiation] GO:0040015 [negative regulation of multicellular organism growth] GO:0048471 [perinuclear region of cytoplasm] GO:0048812 [neuron projection morphogenesis] GO:0048872 [homeostasis of number of cells] GO:0050905 [neuromuscular process]
GO:0021702 [cerebellar Purkinje cell differentiation] GO:0040015 [negative regulation of multicellular organism growth] GO:0048471 [perinuclear region of cytoplasm] GO:0048812 [neuron projection morphogenesis] GO:0048872 [homeostasis of number of cells] GO:0050905 [neuromuscular process]
GO:0021702 [cerebellar Purkinje cell differentiation] GO:0040015 [negative regulation of multicellular organism growth] GO:0048471 [perinuclear region of cytoplasm] GO:0048812 [neuron projection morphogenesis] GO:0048872 [homeostasis of number of cells] GO:0050905 [neuromuscular process]
