InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ATXN2

Summary

InnateDB Protein

IDBP-57481.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ATXN2

Protein Name

ataxin 2

Synonyms

ASL13; ATX2; SCA2; TNRC13;

Species

Homo sapiens

Ensembl Protein

ENSP00000366843

InnateDB Gene

IDBG-57479 (ATXN2)

Protein Structure

UniProt Annotation

Function

Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane. {ECO:0000269PubMed:18602463}.

Subcellular Localization

Cytoplasm {ECO:0000250}.

Disease Associations

Spinocerebellar ataxia 2 (SCA2) [MIM:183090]: 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 cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is characterized by hyporeflexia, myoclonus and action tremor and dopamine-responsive parkinsonism. In some patients, SCA2 presents as pure familial parkinsonism without cerebellar signs. {ECO:0000269PubMed:8896555, ECO:0000269PubMed:8896556, ECO:0000269PubMed:8896557}. Note=The disease is caused by mutations affecting the gene represented in this entry. SCA2 is caused by expansion of a CAG repeat resulting in about 36 to 52 repeats in some patients. Longer expansions result in earlier the expansion, onset of the disease.Amyotrophic lateral sclerosis 13 (ALS13) [MIM:183090]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5- 10% of the cases. {ECO:0000269PubMed:20740007}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. An increased risk for developing amyotrophic lateral sclerosis seems to be conferred by CAG repeat intermediate expansions greater than 23 but below the threshold for developing spinocerebellar ataxia.

Tissue Specificity

Expressed in the brain, heart, liver, skeletal muscle, pancreas and placenta. Isoform 1 is predominant in the brain and spinal cord. Isoform 4 is more abundant in the cerebellum. In the brain, broadly expressed in the amygdala, caudate nucleus, corpus callosum, hippocampus, hypothalamus, substantia nigra, subthalamic nucleus and thalamus. {ECO:0000269PubMed:8896555, ECO:0000269PubMed:8896556, ECO:0000269PubMed:8896557, ECO:0000269PubMed:9480749}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 50 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	50 [view]
Protein-Protein	49 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003723	RNA binding
GO:0005154	epidermal growth factor receptor binding
GO:0005515	protein binding
GO:0008022	protein C-terminus binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0002091	negative regulation of receptor internalization
GO:0006417	regulation of translation
GO:0008219	cell death
GO:0016070	RNA metabolic process
GO:0021702	cerebellar Purkinje cell differentiation
GO:0033962	cytoplasmic mRNA processing body assembly
GO:0034063	stress granule assembly
GO:0040015	negative regulation of multicellular organism growth
GO:0048812	neuron projection morphogenesis
GO:0048872	homeostasis of number of cells
GO:0050658	RNA transport
GO:0050905	neuromuscular process

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005794	Golgi apparatus
GO:0005802	trans-Golgi network
GO:0005844	polysome
GO:0010494	cytoplasmic stress granule
GO:0016020	membrane
GO:0030529	ribonucleoprotein complex
GO:0048471	perinuclear region of cytoplasm