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Aliases for ATXN7 Gene

Aliases for ATXN7 Gene

  • Ataxin 7 2 3 5
  • Spinocerebellar Ataxia Type 7 Protein 3 4
  • SCA7 3 4
  • Spinocerebellar Ataxia 7 (Olivopontocerebellar Atrophy With Retinal Degeneration) 2
  • Ataxin-7 3
  • ADCAII 3
  • OPCA3 3

External Ids for ATXN7 Gene

Previous HGNC Symbols for ATXN7 Gene

  • SCA7

Summaries for ATXN7 Gene

Entrez Gene Summary for ATXN7 Gene

  • 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. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 37-306 CAG repeats (near the N-terminus), compared to 4-35 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

GeneCards Summary for ATXN7 Gene

ATXN7 (Ataxin 7) is a Protein Coding gene. Diseases associated with ATXN7 include Spinocerebellar Ataxia 7 and Retinal Degeneration. Among its related pathways are Chromatin organization and Akt Signaling. GO annotations related to this gene include chromatin binding. An important paralog of this gene is ATXN7L1.

UniProtKB/Swiss-Prot for ATXN7 Gene

  • Acts as component of the STAGA transcription coactivator-HAT complex. Mediates the interaction of STAGA complex with the CRX and is involved in CRX-dependent gene activation. Necessary for microtubule cytoskeleton stabilization.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATXN7 Gene

Genomics for ATXN7 Gene

Regulatory Elements for ATXN7 Gene

Enhancers for ATXN7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F063974 1.1 Ensembl ENCODE 18 +114.2 114242 8.8 PKNOX1 ARID4B DMAP1 FEZF1 ZNF2 ZNF48 YY1 ZNF766 ZNF143 FOS ATXN7 PSMD6-AS2 THOC7 THOC7-AS1 SCAANT1
GH03F063955 0.4 ENCODE 16.7 +91.5 91463 0.2 YY1 ATXN7 THOC7 THOC7-AS1 SCAANT1 PSMD6-AS2
GH03F063961 0.5 Ensembl 15.7 +96.9 96944 0.2 KLF9 ATXN7 PSMD6-AS2 THOC7 THOC7-AS1 SCAANT1
GH03F063936 0.9 Ensembl ENCODE 15.6 +74.0 74012 4.3 HDGF PKNOX1 BMI1 YY1 GATA2 FOS ETV6 CEBPB JUNB TBX21 PSMD6-AS2 ATXN7 THOC7 THOC7-AS1 SCAANT1
GH03F063963 0.5 ENCODE 15.6 +100.1 100086 1.9 PKNOX1 ZNF146 MTA2 JUNB OSR2 ZFHX2 PRDM1 SP7 EGR2 ATXN7 PSMD6-AS2 THOC7 THOC7-AS1 SCAANT1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ATXN7 on UCSC Golden Path with GeneCards custom track

Promoters for ATXN7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001365997 -357 2800 HDGF PKNOX1 ZNF76 ZNF48 DNMT3B ZNF2 GLIS2 EGR1 ZNF143 ETV6

Genomic Location for ATXN7 Gene

63,864,557 bp from pter
64,003,462 bp from pter
138,906 bases
Plus strand

Genomic View for ATXN7 Gene

Genes around ATXN7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATXN7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATXN7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATXN7 Gene

Proteins for ATXN7 Gene

  • Protein details for ATXN7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B4E207
    • E9PHP9
    • O75328
    • O75329
    • Q9Y6P8

    Protein attributes for ATXN7 Gene

    892 amino acids
    Molecular mass:
    95451 Da
    Quaternary structure:
    • Component of the STAGA transcription coactivator-HAT complex, at least composed of SUPT3H, GCN5L2, TAF5L, TAF6L, SUPT7L, TADA3L, TAD1L, TAF10, TAF12, TRRAP, TAF9 and ATXN7. The STAGA core complex is associated with a subcomplex required for histone deubiquitination composed of ATXN7L3, ENY2 and USP22. Interacts with SORBS1, PSMC1 and CRX. Interacts with TRRAP, GCN5L2 and TAF10. Interacts with alpha tubulin.

    Three dimensional structures from OCA and Proteopedia for ATXN7 Gene

    Alternative splice isoforms for ATXN7 Gene


neXtProt entry for ATXN7 Gene

Post-translational modifications for ATXN7 Gene

  • Proteolytically cleaved. The cleavage may be involved in SCA7 degeneration: the isoform fragments may exert distinct toxic influences that could contribute to selective neurodegeneration.
  • Sumoylation decreases the aggregation propensity and cellular toxicity of forms with an expanded poly-Gln region but has no effect on subcellular location or interaction with components of the STAGA complex.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ATXN7 Gene

Domains & Families for ATXN7 Gene

Gene Families for ATXN7 Gene

Protein Domains for ATXN7 Gene


Suggested Antigen Peptide Sequences for ATXN7 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 SCA7 domain.
  • Belongs to the ataxin-7 family.
  • Contains 1 SCA7 domain.
  • Belongs to the ataxin-7 family.
genes like me logo Genes that share domains with ATXN7: view

Function for ATXN7 Gene

Molecular function for ATXN7 Gene

UniProtKB/Swiss-Prot Function:
Acts as component of the STAGA transcription coactivator-HAT complex. Mediates the interaction of STAGA complex with the CRX and is involved in CRX-dependent gene activation. Necessary for microtubule cytoskeleton stabilization.

Gene Ontology (GO) - Molecular Function for ATXN7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IEA --
GO:0005515 protein binding IPI 11371513
genes like me logo Genes that share ontologies with ATXN7: view
genes like me logo Genes that share phenotypes with ATXN7: view

Human Phenotype Ontology for ATXN7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ATXN7 Gene

Localization for ATXN7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATXN7 Gene

Isoform a: Nucleus. Nucleus, nucleolus. Nucleus matrix. Cytoplasm, cytoskeleton. Note=In addition to a diffuse distribution throughout the nucleus, it is associated with the nuclear matrix and the nucleolus. It is able to shuttle between the nucleus and cytoplasm.
Isoform b: Cytoplasm.

Subcellular locations from

Jensen Localization Image for ATXN7 Gene COMPARTMENTS Subcellular localization image for ATXN7 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 3
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ATXN7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 22100762
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm IDA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with ATXN7: view

Pathways & Interactions for ATXN7 Gene

genes like me logo Genes that share pathways with ATXN7: view

Pathways by source for ATXN7 Gene

Gene Ontology (GO) - Biological Process for ATXN7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IMP 22100762
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
GO:0006997 nucleus organization TAS 10441328
genes like me logo Genes that share ontologies with ATXN7: view

No data available for SIGNOR curated interactions for ATXN7 Gene

Drugs & Compounds for ATXN7 Gene

(1) Drugs for ATXN7 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for ATXN7 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ATXN7: view

Transcripts for ATXN7 Gene

Unigene Clusters for ATXN7 Gene

Ataxin 7:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATXN7 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b
SP1: - - - -
SP3: - -
SP4: -
SP8: -

Relevant External Links for ATXN7 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ATXN7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATXN7 Gene

Protein differential expression in normal tissues from HIPED for ATXN7 Gene

This gene is overexpressed in Adipocyte (39.7) and Pancreatic juice (26.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATXN7 Gene

Protein tissue co-expression partners for ATXN7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATXN7 Gene:


SOURCE GeneReport for Unigene cluster for ATXN7 Gene:


mRNA Expression by UniProt/SwissProt for ATXN7 Gene:

Tissue specificity: Isoform a and isoform b are expressed in CNS, but isoform a is expressed predominantly in the peripherical tissues. Isoform b is also highly expressed in the frontal lobe, skeletal muscle and spinal cord and is expressed at a lower level in the lung, lymphoblast and intestine.
genes like me logo Genes that share expression patterns with ATXN7: view

Primer Products

No data available for mRNA differential expression in normal tissues for ATXN7 Gene

Orthologs for ATXN7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ATXN7 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ATXN7 34 35
  • 98.9 (n)
(Canis familiaris)
Mammalia ATXN7 34 35
  • 92.72 (n)
(Bos Taurus)
Mammalia ATXN7 34 35
  • 89.66 (n)
(Mus musculus)
Mammalia Atxn7 34 16 35
  • 86.18 (n)
(Rattus norvegicus)
Mammalia Atxn7 34
  • 85.53 (n)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 75 (a)
-- 35
  • 68 (a)
-- 35
  • 59 (a)
(Monodelphis domestica)
Mammalia ATXN7 35
  • 61 (a)
(Gallus gallus)
Aves ATXN7 34 35
  • 78.02 (n)
(Anolis carolinensis)
Reptilia ATXN7 35
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia atxn7 34
  • 69.35 (n)
Str.19360 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.21192 34
(Danio rerio)
Actinopterygii LOC100001490 34
  • 58.95 (n)
ATXN7 35
  • 42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 23 (a)
Species where no ortholog for ATXN7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ATXN7 Gene

Gene Tree for ATXN7 (if available)
Gene Tree for ATXN7 (if available)

Paralogs for ATXN7 Gene

Paralogs for ATXN7 Gene

(2) SIMAP similar genes for ATXN7 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ATXN7: view

Variants for ATXN7 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ATXN7 Gene

The poly-Gln region of ATXN7 is highly polymorphic (4 to 18 repeats) in the normal population and is expanded to about 38-130 repeats in SCA7 patients. Intermediate alleles with 28 to 35 repeats are prone to further expansion.

Sequence variations from dbSNP and Humsavar for ATXN7 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1053338 Likely benign 63,982,224(+) TCCGA(A/G)AATGG reference, missense
rs3733125 Likely benign 63,995,959(+) CCCCA(C/T)TGTTG reference, synonymous-codon
rs3774729 Likely benign 63,996,406(+) CAGCC(A/G)TGAAC reference, missense
rs61736567 Likely benign 63,996,000(+) TCCTC(C/T)TCTTC reference, synonymous-codon
rs201561286 Benign 63,912,809(+) CCACC(C/G/T)CGGCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ATXN7 Gene

Variant ID Type Subtype PubMed ID
esv2725348 CNV deletion 23290073
esv32871 CNV loss 17666407
nsv1072697 CNV deletion 25765185
nsv1118974 CNV deletion 24896259
nsv3850 CNV deletion 18451855
nsv509828 OTHER sequence alteration 20534489
nsv954873 CNV duplication 24416366

Variation tolerance for ATXN7 Gene

Residual Variation Intolerance Score: 13% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.38; 94.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATXN7 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

Disorders for ATXN7 Gene

MalaCards: The human disease database

(22) MalaCards diseases for ATXN7 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 7
  • spinocerebellar ataxia type 7
retinal degeneration
  • degeneration of retina
machado-joseph disease
  • azorean disease
cerebellar disease
  • cerebellar dysfunction
autosomal dominant cerebellar ataxia
  • cardiac arrest
- elite association - COSMIC cancer census association via MalaCards
Search ATXN7 in MalaCards View complete list of genes associated with diseases


  • Spinocerebellar ataxia 7 (SCA7) [MIM:164500]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA7 belongs to the autosomal dominant cerebellar ataxias type II (ADCA II) which are characterized by cerebellar ataxia with retinal degeneration and pigmentary macular dystrophy. {ECO:0000269 PubMed:9288099}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ATXN7

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ATXN7: view

No data available for Genatlas for ATXN7 Gene

Publications for ATXN7 Gene

  1. SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7. (PMID: 19843541) Janer A. … Sittler A. (Hum. Mol. Genet. 2010) 3 4 22 64
  2. Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. (PMID: 19235102) Rajkiewicz M. … Zaremba J. (Neurol. Neurochir. Pol. 2008) 3 22 46 64
  3. Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes. (PMID: 15115762) Helmlinger D. … Devys D. (Hum. Mol. Genet. 2004) 3 4 22 64
  4. A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product. (PMID: 12533095) Einum D.D. … Fu Y.H. (Arch. Neurol. 2003) 3 4 22 64
  5. Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions. (PMID: 11371513) Lebre A.-S. … Brice A. (Hum. Mol. Genet. 2001) 3 4 22 64

Products for ATXN7 Gene

Sources for ATXN7 Gene

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