ATXN10 Gene - Ataxin 10
Genetic and Functional Insights into ATXN10
Gene Information Card
| Symbol | ATXN10 |
|---|---|
| Full Name | Ataxin 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.31 |
| NCBI Gene ID | 25814 ncbi.nlm.nih.gov/gene/25814 |
| Ensembl ID | ENSG00000100320 |
| UniProt ID | Q9UBB4 |
| OMIM ID | 611150 |
| HGNC ID | 10549 |
| Aliases | E46L, SCA10, ATX10 |
Description
The ATXN10 gene encodes ataxin 10, a protein involved in RNA processing and cellular signaling. It is widely expressed in the brain and other tissues. Expansion of a pentanucleotide repeat (ATTCT) in intron 9 of ATXN10 causes spinocerebellar ataxia type 10 (SCA10), a neurodegenerative disorder characterized by cerebellar ataxia and seizures.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinocerebellar ataxia type 10 (SCA10) | Expansion of ATTCT pentanucleotide repeat in intron 9 leads to RNA toxicity and dysregulation of alternative splicing, causing neurodegeneration. | ClinVar, OMIM |
| Epilepsy (associated with SCA10) | The same repeat expansion in ATXN10 is linked to seizures in SCA10 patients, likely due to neuronal hyperexcitability. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebellum | 12.5 | Medium |
| Cerebral cortex | 10.2 | Medium |
| Testis | 8.9 | Medium |
| Heart | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression |
| HEK293 (embryonic kidney) | 9.8 | Moderate expression |
| HeLa (cervical carcinoma) | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| ATTCT repeat expansion (intron 9) | Repeat expansion (typically >800 repeats) | Rare in general population; pathogenic in SCA10 | RNA gain-of-function; disrupts splicing and causes neurodegeneration |
Mutation functional classification
Loss of Function (LOF)
Not established for ATXN10; no clear loss-of-function mutations reported.
Gain of Function (GOF)
The ATTCT repeat expansion in intron 9 leads to RNA gain-of-function toxicity.
Dominant Negative (DN)
Not reported for ATXN10.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • protein binding |
| • cytoplasm | • nucleus |
| • regulation of alternative mRNA splicing |
Pathways
• RNA splicing
• Neurodegenerative disease pathways
Protein Summary
Ataxin 10 is a 475-amino acid protein with a predicted molecular weight of ~53 kDa. It contains a domain of unknown function (DUF) and is localized to the cytoplasm and nucleus. The protein interacts with RNA and other proteins involved in splicing, suggesting a role in post-transcriptional regulation. Its dysfunction due to repeat expansion contributes to SCA10 pathogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATXN10 Knockout HEK293 Cell Line | EDJ-KQ8242 | Human | 25814 | Details Get a Quote |
| ATXN10 Knockout A-549 Cell Line | EDJ-KQ34163 | Human | 25814 | Details Get a Quote |
| ATXN10 Knockout HCT 116 Cell Line | EDJ-KQ34164 | Human | 25814 | Details Get a Quote |
| ATXN10 Knockout HeLa Cell Line | EDJ-KQ34165 | Human | 25814 | Details Get a Quote |
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