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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]
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. Gene Ontology (GO) annotations related to this gene include chromatin binding. An important paralog of this gene is ATXN7L1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 11371513 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | TAS,IDA | 22100762 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005730 | nucleolus | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Chromatin organization | ||
2 | Deubiquitination |
.74
|
|
3 | Metabolism of proteins | ||
4 | Akt Signaling |
Akt Signaling
.60
|
|
5 | Chks in Checkpoint Regulation |
Parkinson's Disease Pathway
.30
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000226 | microtubule cytoskeleton organization | IMP | 22100762 |
GO:0006997 | nucleus organization | TAS | 10441328 |
GO:0007026 | negative regulation of microtubule depolymerization | IMP | 22100762 |
GO:0007601 | visual perception | TAS | 9288099 |
GO:0016578 | histone deubiquitination | IDA | 18206972 |
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: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ATXN7 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ATXN7 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ATXN7 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Atxn7 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Atxn7 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | ATXN7 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ATXN7 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ATXN7 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | atxn7 30 |
|
||
Str.19360 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.21192 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100001490 30 |
|
||
ATXN7 31 |
|
OneToOne | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
626311 | Pathogenic: Spinocerebellar ataxia 7 | 63,912,684(+) | G/GGCAGCAGCAGCAG | INFRAME_INSERTION | |
638341 | Uncertain Significance: Spinocerebellar ataxia 7 | 63,990,771(+) | G/A | MISSENSE_VARIANT | |
638436 | Uncertain Significance: Spinocerebellar ataxia 7 | 63,912,708(+) | A/AGCCGCC | INFRAME_INSERTION | |
809501 | Uncertain Significance: not provided | 63,912,714(+) | A/C | MISSENSE_VARIANT | |
809502 | Uncertain Significance: not provided | 63,990,815(+) | C/A | SYNONYMOUS_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spinocerebellar ataxia 7 |
|
|
retinal degeneration |
|
|
hereditary ataxia |
|
|
machado-joseph disease |
|
|
cerebellar disease |
|
|