ATXN10 (ataxin 10)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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25814 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Ataxin 10 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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ATXN10 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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ATX10, E46L, HUMEEP, SCA10 |
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Chromosome
Chromosome number
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22 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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22q13.31 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of an ATTCT repeat from 9-32 copies to 8 |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | |||||||||||
| UniProt ID | Q9UBB4 | ||||||||||
| Protein name | Ataxin-10 (Brain protein E46 homolog) (Spinocerebellar ataxia type 10 protein) | ||||||||||
| Protein function | May play a role in the regulation of cytokinesis (PubMed:21857149, PubMed:25666058). May play a role in signaling by stimulating protein glycosylation. Induces neuritogenesis by activating the Ras-MAP kinase pathway and is necessary for the surv | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed in the central nervous system. {ECO:0000269|PubMed:15201271}. | ||||||||||
| Sequence |
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| Sequence length | 475 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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