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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.
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| Protein type: RNA-binding; Translation |
| Chromosomal Location of human Ortholog: 12q24.12 |
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Cellular Component:
cytoplasm; cytoplasmic stress granule; cytosol; Golgi apparatus; perinuclear region of cytoplasm; polysome; ribonucleoprotein complex; trans-Golgi network
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Molecular Function:
epidermal growth factor receptor binding; mRNA binding; protein binding; RNA binding
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Biological Process:
negative regulation of receptor internalization; P-body assembly; regulation of translation; RNA metabolic process; RNA transport; stress granule assembly
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Disease: Parkinson Disease, Late-onset; Spinocerebellar Ataxia 2
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Reference #:
Q99700
(UniProtKB)
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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
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Gene Symbols: ATXN2
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Molecular weight:
140,283 Da
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Basal Isoelectric point:
9.6
Predict pI for various phosphorylation states
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Protein-Specific Antibodies, siRNAs or Recombinant Proteins from Cell Signaling Technology®
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