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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
  • 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 38-130 CAG repeats (near the N-terminus), compared to 7-17 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, Apr 2010]

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 Akt Signaling and Chks in Checkpoint Regulation. GO annotations related to this gene include chromatin binding. An important paralog of this gene is ATXN7L2.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around ATXN7 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATXN7 Gene

Chromosome:
3
Start:
63,864,557 bp from pter
End:
64,003,462 bp from pter
Size:
138,906 bases
Orientation:
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:
    O15265-ATX7_HUMAN
    Recommended name:
    Ataxin-7
    Protein Accession:
    O15265
    Secondary Accessions:
    • B4E207
    • E9PHP9
    • O75328
    • O75329
    • Q9Y6P8

    Protein attributes for ATXN7 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for ATXN7 Gene

Proteomics data for ATXN7 Gene at MOPED

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

Antibody Products

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ATXN7 Gene

Graphical View of Domain Structure for InterPro Entry

O15265

UniProtKB/Swiss-Prot:

ATX7_HUMAN :
  • Contains 1 SCA7 domain.
  • Belongs to the ataxin-7 family.
Domain:
  • Contains 1 SCA7 domain.
Family:
  • 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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
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:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA --
GO:0030914 STAGA complex 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:0006325 chromatin organization TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0042326 negative regulation of phosphorylation IEA --
GO:0043569 negative regulation of insulin-like growth factor receptor signaling pathway IEA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IEA --
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:

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: - - - -
SP2:
SP3: - -
SP4: -
SP5:
SP6:
SP7:
SP8: -

Relevant External Links for ATXN7 Gene

GeneLoc Exon Structure for
ATXN7
ECgene alternative splicing isoforms for
ATXN7

Expression for ATXN7 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for ATXN7 Gene



SOURCE GeneReport for Unigene cluster for ATXN7 Gene Hs.476595

mRNA Expression by UniProt/SwissProt for ATXN7 Gene

O15265-ATX7_HUMAN
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

Protein tissue co-expression partners for ATXN7 Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia ATXN7 35
  • 89.66 (n)
  • 90.02 (a)
ATXN7 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATXN7 35
  • 92.72 (n)
  • 93.44 (a)
ATXN7 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atxn7 35
  • 86.18 (n)
  • 85.22 (a)
Atxn7 16
Atxn7 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATXN7 35
  • 98.9 (n)
  • 98.19 (a)
ATXN7 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atxn7 35
  • 85.53 (n)
  • 83.57 (a)
oppossum
(Monodelphis domestica)
Mammalia ATXN7 36
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 75 (a)
OneToMany
-- 36
  • 68 (a)
OneToMany
-- 36
  • 59 (a)
OneToMany
chicken
(Gallus gallus)
Aves ATXN7 35
  • 78.02 (n)
  • 75.28 (a)
ATXN7 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATXN7 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atxn7 35
  • 69.35 (n)
  • 63.52 (a)
Str.19360 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.21192 35
zebrafish
(Danio rerio)
Actinopterygii LOC100001490 35
  • 58.95 (n)
  • 55.02 (a)
ATXN7 36
  • 42 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 23 (a)
OneToMany
Species with no ortholog for ATXN7:
  • 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

ENSEMBL:
Gene Tree for ATXN7 (if available)
TreeFam:
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

O15265-ATX7_HUMAN
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 - 63,982,224(+) TCCGA(A/G)AATGG reference, missense
rs1053340 - 63,995,809(+) CGGTT(C/T)CTTCC reference, missense
rs3774729 - 63,996,406(+) CAGCC(A/G/T)TGAAC reference, missense
rs3733124 - 63,995,539(+) CACCC(A/G)TCTCC reference, missense
rs13272 -- 64,000,494(+) TCTCT(A/G)CATTA utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv876886 CNV Gain 21882294
nsv509828 CNV Loss 20534489
esv2725348 CNV Deletion 23290073
esv32871 CNV Loss 17666407
nsv3850 CNV Loss 18451855

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

HapMap Linkage Disequilibrium report
ATXN7
Human Gene Mutation Database (HGMD)
ATXN7

Disorders for ATXN7 Gene

MalaCards: The human disease database

(21) 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
cerebellar disease
  • cerebellar deficiency syndrome
machado-joseph disease
  • azorean disease
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

UniProtKB/Swiss-Prot

ATX7_HUMAN
  • 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)
ATXN7
Human Genome Epidemiology (HuGE) Navigator
ATXN7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATXN7
genes like me logo Genes that share disorders with ATXN7: view

No data available for Genatlas for ATXN7 Gene

Publications for ATXN7 Gene

  1. 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 23 67
  2. Genomic organisation of the spinocerebellar ataxia type 7 (SCA7) gene responsible for autosomal dominant cerebellar ataxia with retinal degeneration. (PMID: 10598805) MichalA-k A. … Van Broeckhoven C. (Hum. Genet. 1999) 2 3 23
  3. 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 23
  4. Macular dysfunction and morphology in spinocerebellar ataxia type 7 (SCA 7). (PMID: 19172503) Hugosson T. … AndrAcasson S. (Ophthalmic Genet. 2009) 3 23
  5. Design of RNAi hairpins for mutation-specific silencing of ataxin-7 and correction of a SCA7 phenotype. (PMID: 19789634) Scholefield J. … Wood M.J. (PLoS ONE 2009) 3 23

Products for ATXN7 Gene

Sources for ATXN7 Gene

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