TDP2 Chromosome 6
Tyrosyl-DNA phosphodiesterase 2
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What This Gene Does
This gene encodes a member of a superfamily of divalent cation-dependent phosphodiesterases. The encoded protein associates with CD40, tumor necrosis factor (TNF) receptor-75 and TNF receptor associated factors (TRAFs), and inhibits nuclear factor-kappa-B activation. This protein has sequence and structural similarities with APE1 endonuclease, which is involved in both DNA repair and the activation of transcription factors. [provided by RefSeq, Jul 2008]
Associated Conditions (5)
Spinocerebellar ataxia
autosomal recessive 23
Cerebellar ataxia
Inborn genetic diseases
Sarcoma
Key Variants
RS2127617300
Likely pathogenic
Spinocerebellar ataxia, autosomal recessive 23, Spinocerebellar ataxia
Health Risk
RS1240335250
Pathogenic
Cerebellar ataxia, Cerebellar ataxia
Health Risk
RS142438588
Pathogenic
Spinocerebellar ataxia, autosomal recessive 23, Spinocerebellar ataxia
Health Risk
RS1562148727
Pathogenic
Health Risk
RS1778000792
Pathogenic
Spinocerebellar ataxia, autosomal recessive 23, Spinocerebellar ataxia
Health Risk
RS2532242996
Pathogenic
Health Risk
RS2532243005
Pathogenic
Health Risk
RS2534108625
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS372245668
Pathogenic
Spinocerebellar ataxia, autosomal recessive 23, Sarcoma
Health Risk
RS377119756
Pathogenic
Health Risk
RS770844602
Pathogenic
Health Risk
RS879255601
Pathogenic
Spinocerebellar ataxia, autosomal recessive 23, Spinocerebellar ataxia
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2127617300 | Health Risk | Likely pathogenic | Spinocerebellar ataxia, autosomal recessive 23, Spinocerebellar ataxia |
| RS1240335250 | Health Risk | Pathogenic | Cerebellar ataxia, Cerebellar ataxia |
| RS142438588 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive 23, Spinocerebellar ataxia |
| RS1562148727 | Health Risk | Pathogenic | — |
| RS1778000792 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive 23, Spinocerebellar ataxia |
| RS2532242996 | Health Risk | Pathogenic | — |
| RS2532243005 | Health Risk | Pathogenic | — |
| RS2534108625 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS372245668 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive 23, Sarcoma |
| RS377119756 | Health Risk | Pathogenic | — |
| RS770844602 | Health Risk | Pathogenic | — |
| RS879255601 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive 23, Spinocerebellar ataxia |