loading...| Preferred Name | Ataxin-2 | |
| Synonyms |
ATXN2 Protein Protein, Ataxin-2 Protein, SCA2 Ataxin-2 Protein Atx-2 Protein Ataxin 2 Spinocerebellar Ataxia Type 2 Protein Ataxin 2 Protein SCA2 Protein Atx 2 Protein Protein, ATXN2 Protein, Atx-2 |
|
| Definitions |
A Poly(A) RNA-binding protein that negatively regulates EGFR ENDOCYTOSIS. An increased risk for developing AMYOTROPHIC LATERAL SCLEROSIS 13 is observed in patients who have more than 23 CAG repeats in the ATXN2 gene coding sequence. Larger CAG expansions in the ATXN2 gene occur in SPINOCEREBELLAR ATAXIA 2 patients. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D000067698 |
|
| altLabel |
ATXN2 Protein Protein, Ataxin-2 Protein, SCA2 Ataxin-2 Protein Atx-2 Protein Ataxin 2 Spinocerebellar Ataxia Type 2 Protein Ataxin 2 Protein SCA2 Protein Atx 2 Protein Protein, ATXN2 Protein, Atx-2 |
|
| AQL |
AD AE AG AI AN BI BL CF CH CL CS DE DF EC GE HI IM IP ME PD PH PK PO RE SD ST TO TU UL UR |
|
| cui |
C0968256 |
|
| DC |
1 |
|
| definition |
A Poly(A) RNA-binding protein that negatively regulates EGFR ENDOCYTOSIS. An increased risk for developing AMYOTROPHIC LATERAL SCLEROSIS 13 is observed in patients who have more than 23 CAG repeats in the ATXN2 gene coding sequence. Larger CAG expansions in the ATXN2 gene occur in SPINOCEREBELLAR ATAXIA 2 patients. |
|
| DX |
20160101 |
|
| FX |
D020754 |
|
| HN |
2016; use SCA2 PROTEIN (NM) 1996-2015 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000096 http://purl.bioontology.org/ontology/MESH/Q000172 http://purl.bioontology.org/ontology/MESH/Q000627 http://purl.bioontology.org/ontology/MESH/Q000648 http://purl.bioontology.org/ontology/MESH/Q000493 http://purl.bioontology.org/ontology/MESH/Q000494 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000138 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000008 http://purl.bioontology.org/ontology/MESH/Q000009 http://purl.bioontology.org/ontology/MESH/Q000032 http://purl.bioontology.org/ontology/MESH/Q000037 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000302 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000592 http://purl.bioontology.org/ontology/MESH/Q000737 http://purl.bioontology.org/ontology/MESH/Q000819 http://purl.bioontology.org/ontology/MESH/Q000502 http://purl.bioontology.org/ontology/MESH/Q000506 http://purl.bioontology.org/ontology/MESH/Q000187 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000633 http://purl.bioontology.org/ontology/MESH/Q000600 |
|
| Inverse of RB |
0 |
|
| Inverse of RO | ||
| Machine permutation |
2016; ATAXIN-2 was indexed under PROTEINS 1996-2005, and under NERVE TISSUE PROTEINS 2005-2015 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C000622386 http://purl.bioontology.org/ontology/MESH/C000594429 |
|
| MDA |
20150706 |
|
| MMR |
20151123 |
|
| MN |
D12.776.660.075.750 D12.776.664.962.452.125 D12.776.157.725.452.125 D12.776.631.069.750 |
|
| notation |
D000067698 |
|
| prefLabel |
Ataxin-2 |
|
| TERMUI |
T000873998 T000873997 T000874499 T000874500 T000872353 T000873996 |
|
| TH |
NLM (2016) |
|
| tui |
T116 T123 |
|
| subClassOf |