ATXN2L
Ataxin-2-like protein gene
Gene Information Card
| Symbol | ATXN2L |
|---|---|
| Full Name | Ataxin 2 like |
| Gene Type | Protein coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 11273 ncbi.nlm.nih.gov/gene/11273 |
| Ensembl ID | ENSG00000168488 |
| UniProt ID | Q8WWM7 |
| OMIM ID | 607931 |
| HGNC ID | 31326 |
| Aliases | A2D, A2LG, A2LP, A2RP, FLJ20014, MGC4859 |
Description
ATXN2L (Ataxin 2 Like) is a protein-coding gene located on chromosome 16p11.2. It encodes a member of the ataxin-2 family of RNA-binding proteins involved in RNA processing, stress granule assembly, and translational regulation. The protein contains Lsm (Like Sm) domains and a PAM2 motif, enabling interactions with poly(A)-binding proteins. ATXN2L is ubiquitously expressed and has been implicated in neurodegenerative disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinocerebellar ataxia (modifier) | ATXN2L may modulate toxicity of ATXN2 polyQ expansions via interaction with ataxin-2 | PMID: 24623722 |
| Breast cancer | Overexpression of ATXN2L correlates with poor prognosis; promotes cell proliferation | PMID: 29367600 |
| Amyotrophic lateral sclerosis (ALS) | ATXN2L interacts with TDP-43 and may influence stress granule dynamics in ALS | PMID: 29518347 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Lung | 9.7 | Low |
| Kidney | 7.4 | Low |
| Testis | 15.2 | Medium |
| Spleen | 10.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.3 | High expression in embryonic kidney cells |
| HeLa | 11.2 | Moderate expression in cervical cancer cells |
| K562 | 9.8 | Low expression in leukemia cells |
| SH-SY5Y | 13.1 | Moderate expression in neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown functional effect; rare population variant |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Predicted loss of function; not observed in healthy controls |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Glu190fs) are predicted to cause nonsense-mediated decay or truncated protein, leading to loss of RNA-binding function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in ATXN2L.
Dominant Negative (DN)
No evidence for dominant-negative effects in ATXN2L.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA binding |
| • poly(A) RNA binding | • cytoplasmic stress granule |
| • P-body | • regulation of translation |
| • mRNA processing |
Pathways
• mRNA surveillance pathway
• RNA degradation
• Stress granule assembly
Protein Summary
ATXN2L is a 1073-amino-acid protein containing Lsm domains and a PAM2 motif. It localizes to cytoplasmic stress granules and P-bodies, where it regulates mRNA stability and translation. The protein interacts with ataxin-2 (ATXN2), poly(A)-binding proteins (PABPC1), and TDP-43. ATXN2L is implicated in modulating neurodegeneration and cancer cell proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATXN2L Knockout HEK293 Cell Line | EDJ-KQ2834 | Human | 11273 | Details Get a Quote |
| ATXN2L Knockout A-549 Cell Line | EDJ-KQ23816 | Human | 11273 | Details Get a Quote |
| ATXN2L Knockout HCT 116 Cell Line | EDJ-KQ23817 | Human | 11273 | Details Get a Quote |
| ATXN2L Knockout HeLa Cell Line | EDJ-KQ23818 | Human | 11273 | Details Get a Quote |
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