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Aliases for ATXN7 Gene

Aliases for ATXN7 Gene

  • Ataxin 7 2 3
  • SCA7 3 4 6
  • Spinocerebellar Ataxia Type 7 Protein 3 4
  • OPCA3 3 6
  • Spinocerebellar Ataxia 7 (Olivopontocerebellar Atrophy With Retinal Degeneration) 2
  • Ataxin-7 3
  • ADCAII 3

External Ids for ATXN7 Gene

Previous 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 cerebellar disease and spinocerebellar ataxia 7. Among its related pathways are Akt Signaling and RNA Polymerase I Promoter Opening. 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

Genomic Location for ATXN7 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATXN7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATXN7 Gene

Regulatory Elements 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

Other Protein References for ATXN7 Gene

No data available for DME Specific Peptides for ATXN7 Gene

Domains for ATXN7 Gene

Gene Families for ATXN7 Gene

HGNC:

Protein Domains for ATXN7 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

ATX7_HUMAN
Domain:
  • Contains 1 SCA7 domain.:
    • O15265
Family:
  • Belongs to the ataxin-7 family.:
    • O15265
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

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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

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:0015630 microtubule cytoskeleton IDA 22100762
genes like me logo Genes that share ontologies with ATXN7: view

Pathways for ATXN7 Gene

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

Pathways by source for ATXN7 Gene

2 Qiagen pathways 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:0006325 chromatin organization TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006997 nucleus organization TAS 10441328
GO:0007601 visual perception TAS 9288099
genes like me logo Genes that share ontologies with ATXN7: view

Compounds for ATXN7 Gene

(2) Novoseek inferred chemical compound relationships for ATXN7 Gene

Compound -log(P) Hits PubMed IDs
glutamine 78.1 27
polyacrylamide 28.9 1
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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with ATXN7: view

Orthologs for ATXN7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ATXN7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATXN7 36
  • 98.9 (n)
  • 98.19 (a)
ATXN7 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATXN7 36
  • 89.66 (n)
  • 90.02 (a)
ATXN7 37
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATXN7 36
  • 92.72 (n)
  • 93.44 (a)
ATXN7 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atxn7 36
  • 86.18 (n)
  • 85.22 (a)
Atxn7 16
Atxn7 37
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATXN7 37
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 75 (a)
OneToMany
-- 37
  • 68 (a)
OneToMany
-- 37
  • 59 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Atxn7 36
  • 85.53 (n)
  • 83.57 (a)
chicken
(Gallus gallus)
Aves ATXN7 36
  • 78.02 (n)
  • 75.28 (a)
ATXN7 37
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATXN7 37
  • 73 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.21192 36
tropical clawed frog
(Silurana tropicalis)
Amphibia atxn7 36
  • 69.35 (n)
  • 63.52 (a)
Str.19360 36
zebrafish
(Danio rerio)
Actinopterygii ATXN7 37
  • 42 (a)
OneToOne
LOC100001490 36
  • 58.95 (n)
  • 55.02 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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 MAF
rs13272 -- 64,000,494(+) TCTCT(A/G)CATTA utr-variant-3-prime
rs704360 -- 63,899,124(-) gatca(C/T)gccac intron-variant
rs704361 -- 63,897,995(-) GCTCA(A/C)GCTGT intron-variant, upstream-variant-2KB
rs704362 -- 63,892,664(-) AGAAC(C/T)CGCAA intron-variant
rs704363 -- 63,892,497(-) GTGTG(G/T)GGGTG intron-variant

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

Relevant External Links for ATXN7 Gene

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

Disorders for ATXN7 Gene

(1) OMIM Diseases for ATXN7 Gene (607640)

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.

(13) Novoseek inferred disease relationships for ATXN7 Gene

Disease -log(P) Hits PubMed IDs
spinocerebellar ataxia type 7 99.1 31
spinocerebellar ataxias 89.5 5
sca12 88.9 5
sca17 85.6 5
drpla 81.9 10

Relevant External Links for ATXN7

GeneTests
ATXN7
GeneReviews
ATXN7
Genetic Association Database (GAD)
ATXN7
Human Genome Epidemiology (HuGE) Navigator
ATXN7
genes like me logo Genes that share disorders with ATXN7: view

Publications for ATXN7 Gene

  1. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. (PMID: 9288099) David G. … Brice A. (Nat. Genet. 1997) 3 4 23
  2. Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion. (PMID: 9425224) Del-Favero J. … Van Broeckhoven C. (Hum. Mol. Genet. 1998) 3 4 23
  3. 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
  4. 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
  5. Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex. (PMID: 11734547) Matilla A. … Fu Y.H. (Hum. Mol. Genet. 2001) 3 4 23

Products for ATXN7 Gene

Sources for ATXN7 Gene

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