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: 12q24.12
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 binding; protein C-terminus binding; RNA binding
Biological Process:  cytoplasmic mRNA processing body assembly; negative regulation of receptor internalization; regulation of translation; RNA metabolic process; RNA transport; stress granule assembly
Disease: Parkinson Disease, Late-onset; Spinocerebellar Ataxia 2
Reference #:  Q99700 (UniProtKB)
Alt. Names/Synonyms: ataxin 2; Ataxin-2; ATX2; ATXN2; FLJ46772; SCA2; Spinocerebellar ataxia type 2 protein; TNRC13; trinucleotide repeat containing 13; Trinucleotide repeat-containing gene 13 protein
Gene Symbols: ATXN2
Molecular weight: 140,283 Da
Basal Isoelectric point: 9.6  Predict pI for various phosphorylation states
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ataxin-2

Protein Structure Not Found.


Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  RCSB PDB  |  Phospho3D  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene