| Gene Symbol |
ATXN2
|
| Entrez Gene |
6311
|
| Alt Symbol |
ASL13, ATX2, SCA2, TNRC13
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
ataxin 2
|
| Other Description |
ataxin-2|spinocerebellar ataxia type 2 protein|trinucleotide repeat-containing gene 13 protein
|
| Swissprots |
Q99493 A6NLD4 Q24JQ7 Q99700 Q6ZQZ7
|
| Accessions |
ACJ05009 ACJ05010 ACJ05011 ACJ05012 ACJ05013 ACJ05017 ACJ05018 ACJ05019 ACJ05020 ACJ05021 EAW97957 EAW97958 EAW97959 EAW97960 Q99700 AA731027 AI083696 AK128613 BAC87528 AK307803 AL042619 BC111757 AAI11758 BC114546 AAI14547 BF448025 CA389718 U70323 AAB19200 U80749 Y08262 CAA69589 NM_002973 NP_002964
|
| Function |
Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane. {ECO:0000269|PubMed:18602463}.
|
| Subcellular Location |
Cytoplasm {ECO:0000250}.
|
| 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:0000269|PubMed:8896555, ECO:0000269|PubMed:8896556, ECO:0000269|PubMed:8896557, ECO:0000269|PubMed:9480749}.
|