ATXN7: Ataxin-7 Gene in Spinocerebellar Ataxia and Disease

Comprehensive genomic and functional overview of ATXN7, its role in SCA7, and expression data.

Gene Information Card

Symbol ATXN7
Full Name Ataxin 7
Gene Type protein-coding
Chromosomal Location 3p14.1
NCBI Gene ID 6314 ncbi.nlm.nih.gov/gene/6314
Ensembl ID ENSG00000163635
UniProt ID O15265
OMIM ID 607640
HGNC ID 10560
Aliases SCA7, OPCA3, ADCAII

Description

ATXN7 encodes ataxin-7, a component of the STAGA (SPT3-TAF9-ADA-GCN5 acetyltransferase) transcriptional coactivator complex. The protein contains a polyglutamine tract in its N-terminal region; expansion of this tract (≥37 repeats) causes spinocerebellar ataxia type 7 (SCA7), a neurodegenerative disorder characterized by progressive cerebellar ataxia and retinal degeneration. Ataxin-7 is involved in chromatin remodeling, transcription regulation, and DNA repair.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Spinocerebellar ataxia type 7 (SCA7) Expanded polyglutamine tract in ataxin-7 leads to protein misfolding, aggregation, and transcriptional dysregulation via STAGA complex impairment. OMIM #164500; ClinVar; multiple peer-reviewed studies.
Retinal degeneration (SCA7-associated) Mutant ataxin-7 disrupts photoreceptor-specific gene expression through aberrant STAGA complex recruitment. OMIM; NCBI GeneReviews.

Expression Profile

Tissue Expression
Tissue nTPM level
Cerebellum 12.5 Medium
Cerebral cortex 8.3 Low
Retina 15.2 Medium
Testis 20.1 High
Heart 6.7 Low
Cell Line Expression
Cell Line nTPM Notes
SH-SY5Y (neuroblastoma) 18.4 Neuronal model; used in SCA7 studies
HEK293 (embryonic kidney) 22.1 Common overexpression system
HeLa (cervical carcinoma) 14.7 Epithelial; STAGA complex studies
Data source：Human Protein Atlas（proteinatlas.org）

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
CAG repeat expansion (≥37 repeats) trinucleotide repeat expansion 0.0001% (rare) Gain-of-function: toxic polyglutamine protein aggregates; transcriptional dysregulation.
c.892C>T (p.Arg298*) nonsense <0.001% Loss-of-function: premature truncation; not associated with SCA7.
Mutation functional classification

Loss of Function (LOF)

Rare nonsense/frameshift variants (e.g., p.Arg298*) reduce ataxin-7 protein levels; not linked to SCA7 phenotype.

Gain of Function (GOF)

Expanded polyglutamine tract (≥37 repeats) confers toxic gain-of-function via aggregation and aberrant protein interactions.

Dominant Negative (DN)

Mutant ataxin-7 may interfere with STAGA complex assembly and function, contributing to transcriptional dysregulation.
View complete mutation data：
ClinVar：https://www.clinvar.com/gene/6314
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=ATXN7

Gene Ontology (GO)

• transcription coregulator activity (GO:0003712) • histone acetyltransferase activity (GO:0004402)
• nucleus (GO:0005634) • negative regulation of transcription by RNA polymerase II (GO:0000122)
• proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)

Pathways

• STAGA complex (SPT3-TAF9-ADA-GCN5 acetyltransferase) - chromatin remodeling
• Polyglutamine disease pathway (KEGG: hsa05016)

Protein Summary

Ataxin-7 is a 892-amino acid protein (UniProt O15265) containing a polyglutamine tract (normally 4-35 repeats), a SCA7 domain, and a C-terminal region that mediates interaction with STAGA complex subunits. It localizes to the nucleus and functions in transcriptional regulation via histone acetylation. Pathogenic expansion of the polyglutamine tract leads to protein aggregation and neurodegeneration.

Related Services

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Related Products

Product name Cat.No. Species Gene ID
ATXN7 Knockout HEK293 Cell Line EDJ-KQ5714 Human 6314 Details Get a Quote
ATXN7L1 Knockout HEK293 Cell Line EDJ-KQ9003 Human 222255 Details Get a Quote
ATXN7L2 Knockout HEK293 Cell Line EDJ-KQ9006 Human 127002 Details Get a Quote
ATXN7L3B Knockout HEK293 Cell Line EDJ-KQ12493 Human 552889 Details Get a Quote
ATXN7 Knockout A-549 Cell Line EDJ-KQ29099 Human 6314 Details Get a Quote
ATXN7 Knockout HCT 116 Cell Line EDJ-KQ29100 Human 6314 Details Get a Quote
ATXN7 Knockout HeLa Cell Line EDJ-KQ29101 Human 6314 Details Get a Quote
ATXN7L3B Knockout A-549 Cell Line EDJ-KQ40176 Human 552889 Details Get a Quote
ATXN7L3B Knockout HCT 116 Cell Line EDJ-KQ41462 Human 552889 Details Get a Quote
ATXN7L3B Knockout HeLa Cell Line EDJ-KQ41463 Human 552889 Details Get a Quote
ATXN7L1 Knockout A-549 Cell Line EDJ-KQ35442 Human 222255 Details Get a Quote
ATXN7L1 Knockout HCT 116 Cell Line EDJ-KQ35443 Human 222255 Details Get a Quote
ATXN7L1 Knockout HeLa Cell Line EDJ-KQ35444 Human 222255 Details Get a Quote
ATXN7L2 Knockout A-549 Cell Line EDJ-KQ35447 Human 127002 Details Get a Quote
ATXN7L2 Knockout HCT 116 Cell Line EDJ-KQ35448 Human 127002 Details Get a Quote
Displaying Records 1 To 15 Of 16 Records

Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/6314
OMIM https://www.omim.org/entry/607640
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10560
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163635
UniProt https://www.uniprot.org/uniprot/O15265
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=ATXN7%5Bgene%5D
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=ATXN7
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