This website uses cookies to ensure you get the best experience on our website.
- Table of Contents
Facts about Ataxin-2.
Human | |
---|---|
Gene Name: | ATXN2 |
Uniprot: | Q99700 |
Entrez: | 6311 |
Belongs to: |
---|
ataxin-2 family |
ataxin 2; ataxin 2); ataxin-2; ATX2spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant; SCA2FLJ46772; Spinocerebellar ataxia type 2 protein; TNRC13; trinucleotide repeat containing 13; Trinucleotide repeat-containing gene 13 protein
Mass (kDA):
140.283 kDA
Human | |
---|---|
Location: | 12q24.12 |
Sequence: | 12; NC_000012.12 (111452214..111599676, complement) |
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.
Cytoplasm.
PMID: 8896555 by Pulst S.-M., et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.
PMID: 8896556 by Sanpei K., et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.