PAX5
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | paired box 5 |
| EntrezGene | 5079 |
| PheGenI | 5079 |
| VariationViewer | 5079 |
| ClinVar | PAX5 |
| GeneCards | PAX5 |
| dbSNP | 5079 |
| Diseases | PAX5 |
| SADR | 5079 |
| HugeNav | 5079 |
| wikipedia | PAX5 |
| PAX5 | |
| gopubmed | PAX5 |
| EVS | PAX5 |
| HEFalMp | PAX5 |
| MyGene2 | PAX5 |
| 23andMe | PAX5 |
| UniProt | Q02548 |
| Ensembl | ENSG00000196092 |
| OMIM | 167414 |
| # SNPs | 3 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs16933812 | 0 | 36,969,208 | |
| rs398123063 | 3 | 37,002,705 | Rare inherited variant associated with a form of B-cell leukemia |
| rs6476606 | 0 | 37,005,564 | slightly associated with risk of major depression |
The protein known as Paired box protein Pax-5 is encoded by the PAX5 gene; it is a member of the paired box (PAX) family of transcription factors.Wikipedia
rs398123063(A), a rare variation known as c.547G>A or Gly183Ser, has been associated with autosomal dominant B cell precursor acute lymphoblastic leukemia (B-ALL). Individuals carrying this variation appear to require the deletion or inactivation of their normal allele at this locus to develop clinical symptoms of B-ALL.[PMID 24013638]
