Basic information of ATXN2 :
| Official Symbol of Gene | ATXN2 |
| Species | Homo sapiens |
| Entrez Gene ID | 6311 |
| Official Full Name | ataxin 2 |
| Also known as | ATX2; SCA2; TNRC13 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000204842 MIM:601517; AllianceGenome:HGNC:10555 |
| Map Location | 12q24.12 |
| Variation Type | polymorphism |
| refSNP ID | the 22 repeat length allele |
Sample information of multiple sclerosis:
| Detected Sample | blood |
| Sample Detail | venous blood |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | multiple sclerosis sibling pair families |
| Sample Size | 226 multiple sclerosis sibling pair families |
Literature information of multiple sclerosis :
| Pubmed ID | 10369884 |
| Year | 1999 |
| Title | Evidence that allelic variants of the spinocerebellar ataxia type 2 gene influence susceptibility to multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | phenotypics risk |
| Main Result | N/A |
| Result | However, transmission disequilibrium testing for these repeats demonstrated significant excess transmission of the 22 repeat length allele of the SCA2 gene (Pp4.4E 06) in multiple sclerosis patients. |
| Mechanism/Pathway | N/A |
