ataxin-2 Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane. Belongs to the ataxin-2 family. 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. 5 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
Protein type: RNA-binding; Translation
Chromosomal Location of Human Ortholog: 12q16
Cellular Component:  cytoplasm; cytoplasmic stress granule; cytosol; Golgi apparatus; perinuclear region of cytoplasm; polysome; ribonucleoprotein complex; trans-Golgi network
Molecular Function:  epidermal growth factor receptor binding; protein C-terminus binding
Biological Process:  cerebellar Purkinje cell differentiation; cytoplasmic mRNA processing body assembly; homeostasis of number of cells; negative regulation of multicellular organism growth; negative regulation of receptor internalization; neuromuscular process; neuron projection morphogenesis; regulation of cytoplasmic mRNA processing body assembly; stress granule assembly
Reference #:  XP_213779 (RefSeq)
Alt. Names/Synonyms: ataxin 2; ataxin-2; Atxn2; Sca2; spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)
Gene Symbols: Atxn2
Molecular weight: 81,747 Da
Basal Isoelectric point: 6.49  Predict pI for various phosphorylation states
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ataxin-2

Protein Structure Not Found.


Cross-references to other databases:  BioGPS  |  Entrez-Gene  |  GenPept  |  Ensembl Gene