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This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The encoded cytoplasmic protein localizes to the endoplasmic reticulum and plasma membrane, is involved in endocytosis, and modulates mTOR signals, modifying ribosomal translation and mitochondrial function. The N-terminal region of the protein contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Genome-wide association studies indicate that loss-of-function mutations in this gene may be associated with susceptibility to type I diabetes, obesity and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
ATXN2 (Ataxin 2) is a Protein Coding gene. Diseases associated with ATXN2 include Spinocerebellar Ataxia 2 and Parkinson Disease, Late-Onset. Among its related pathways are Spinocerebellar ataxia and EGF/EGFR Signaling Pathway. Gene Ontology (GO) annotations related to this gene include protein C-terminus binding. An important paralog of this gene is ATXN2L.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | IBA,NAS | 10814712 |
GO:0005154 | epidermal growth factor receptor binding | IPI | 18602463 |
GO:0005515 | protein binding | IPI | 10814712 |
GO:0008022 | protein C-terminus binding | IPI | 15663938 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | 10814712 |
GO:0005794 | Golgi apparatus | IDA | 12812977 |
GO:0005802 | trans-Golgi network | IDA | 10814712 |
GO:0005829 | cytosol | IDA | -- |
GO:0005844 | polysome | IDA | 16835262 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Spinocerebellar ataxia | ||
2 | Akt Signaling |
Akt Signaling
.60
|
|
3 | Chks in Checkpoint Regulation |
Parkinson's Disease Pathway
.30
|
|
4 | EGF/EGFR Signaling Pathway | ||
5 | Parkinsons Disease Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002091 | negative regulation of receptor internalization | IMP | 18602463 |
GO:0006417 | regulation of translation | NAS | 16835262 |
GO:0010603 | regulation of cytoplasmic mRNA processing body assembly | IBA | 21873635 |
GO:0016070 | RNA metabolic process | NAS | 15663938 |
GO:0033962 | cytoplasmic mRNA processing body assembly | IMP | 17392519 |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ATXN2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ATXN2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ATXN2 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ATXN2 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Atxn2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Atxn2 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ATXN2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ATXN2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ATXN2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | atxn2 30 |
|
||
Str.4025 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.7312 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | atxn2 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Atx2 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | atx-2 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PBP1 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
802894 | Uncertain Significance: Spinocerebellar ataxia type 2 | 111,599,300(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
806945 | Uncertain Significance: not provided | 111,453,768(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
806946 | Uncertain Significance: not provided | 111,599,005(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT | |
rs10560189 | Likely Benign: Spinocerebellar ataxia type 2 | 111,598,949(-) | GGCT/G | NON_CODING_TRANSCRIPT_VARIANT,INFRAME_DELETION,INTRON_VARIANT | |
rs140262591 | Uncertain Significance: not specified | 111,470,741(-) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2866n54 | CNV | loss | 21841781 |
dgv2867n54 | CNV | loss | 21841781 |
dgv2868n54 | CNV | loss | 21841781 |
dgv2869n54 | CNV | loss | 21841781 |
dgv2870n54 | CNV | loss | 21841781 |
dgv2871n54 | CNV | loss | 21841781 |
dgv2872n54 | CNV | loss | 21841781 |
dgv2873n54 | CNV | loss | 21841781 |
dgv313e199 | CNV | deletion | 23128226 |
dgv869n106 | CNV | deletion | 24896259 |
esv26285 | CNV | loss | 19812545 |
esv2660345 | CNV | deletion | 23128226 |
esv27842 | CNV | loss | 19812545 |
esv28414 | CNV | loss | 19812545 |
esv3549772 | CNV | deletion | 23714750 |
esv3580465 | CNV | loss | 25503493 |
esv3630756 | CNV | loss | 21293372 |
esv3630757 | CNV | loss | 21293372 |
esv3630758 | CNV | loss | 21293372 |
esv3630759 | CNV | loss | 21293372 |
nsv1070128 | CNV | deletion | 25765185 |
nsv1143571 | CNV | deletion | 24896259 |
nsv510319 | OTHER | sequence alteration | 20534489 |
nsv832513 | CNV | gain | 17160897 |
nsv973118 | CNV | duplication | 23825009 |
nsv983493 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spinocerebellar ataxia 2 |
|
|
parkinson disease, late-onset |
|
|
hereditary ataxia |
|
|
machado-joseph disease |
|
|
dentatorubral-pallidoluysian atrophy |
|