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ATXN2

Synonyms
ATX2, SCA2, TNRC13
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
210
Likely pathogenic
62
VUS
5,994
Likely benign
5,947
Benign
12,167

Patient phenotypes

Proportions of phenotypes among 256 patients carrying pathogenic or likely pathogenic variants on ATXN2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.1%
Abnormality of the cardiovascular system
29.3%
Abnormality of the musculoskeletal system
20.3%
Abnormality of head or neck
17.6%
Abnormality of the eye
16.8%
Abnormality of the ear
12.5%
Abnormality of the genitourinary system
11.3%
Growth abnormality
9.8%
Abnormality of the integument
6.6%
Abnormality of the digestive system
6.3%
Abnormality of the immune system
5.1%
Abnormality of limbs
4.7%
Abnormality of blood and blood-forming tissues
4.3%
Abnormality of prenatal development or birth
2.3%
Abnormality of the respiratory system
2.3%
Abnormality of the endocrine system
2%
Neoplasm
1.2%
Abnormal cellular phenotype
0.4%
Constitutional symptom
0.4%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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