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This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of an ATTCT repeat from 9-32 copies to 800-4500 copies in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jul 2016]
ATXN10 (Ataxin 10) is a Protein Coding gene. Diseases associated with ATXN10 include Spinocerebellar Ataxia 10 and Spinocerebellar Ataxia 4. Among its related pathways are Spinocerebellar ataxia and Akt Signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding and binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16498633 |
GO:0019899 | enzyme binding | IEA | -- |
GO:0042802 | identical protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | HDA | 23580065 |
GO:0005737 | cytoplasm | IEA,IDA | 15201271 |
GO:0005829 | cytosol | IDA | -- |
GO:0005886 | plasma membrane | IDA | -- |
GO:0016020 | membrane | HDA | 19946888 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Spinocerebellar ataxia | ||
2 | Akt Signaling |
Akt Signaling
.60
|
|
3 | Chks in Checkpoint Regulation |
Parkinson's Disease Pathway
.30
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007399 | nervous system development | IMP | 16385455 |
GO:0031175 | neuron projection development | IDA | 16498633 |
GO:0060271 | cilium assembly | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - |
ExUns: | 18b | · | 18c | · | 18d |
---|---|---|---|---|---|
SP1: | |||||
SP2: | |||||
SP3: | |||||
SP4: | |||||
SP5: | |||||
SP6: | |||||
SP7: | |||||
SP8: | |||||
SP9: | |||||
SP10: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ATXN10 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ATXN10 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ATXN10 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Atxn10 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Atxn10 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ATXN10 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ATXN10 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ATXN10 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ATXN10 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | atxn10 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.6373 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | atxn10 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CTR86 31 33 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6792 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
39007 | Pathogenic: Spinocerebellar ataxia type 10 | 45,795,354(+) | G/GATTCTATTCTATT | INTRON_VARIANT | |
rs376717467 | Uncertain Significance: not provided | 45,738,744(+) | C/T | MISSENSE_VARIANT | |
rs61733598 | Likely Benign: not specified | 45,693,008(+) | G/A | SYNONYMOUS_VARIANT | |
rs772813026 | Uncertain Significance: not provided | 45,738,783(+) | A/AT | FRAMESHIFT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2469n106 | OTHER | inversion | 24896259 |
dgv4588n100 | CNV | gain | 25217958 |
dgv73n68 | CNV | gain | 17160897 |
esv2724410 | CNV | deletion | 23290073 |
esv3568449 | CNV | loss | 25503493 |
esv3575493 | CNV | gain | 25503493 |
nsv1058557 | CNV | gain | 25217958 |
nsv1059671 | CNV | gain | 25217958 |
nsv1060261 | CNV | loss | 25217958 |
nsv1064179 | CNV | loss | 25217958 |
nsv1066204 | CNV | gain | 25217958 |
nsv1152661 | OTHER | inversion | 26484159 |
nsv1160778 | CNV | duplication | 26073780 |
nsv1160779 | CNV | duplication | 26073780 |
nsv472263 | CNV | novel sequence insertion | 20440878 |
nsv477251 | CNV | novel sequence insertion | 20440878 |
nsv527209 | CNV | loss | 19592680 |
nsv589130 | CNV | loss | 21841781 |
nsv589131 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spinocerebellar ataxia 10 |
|
|
spinocerebellar ataxia 4 |
|
|
hereditary ataxia |
|
|
autosomal dominant cerebellar ataxia |
|
|
far eastern spotted fever |
|
|