TTI2 Chromosome 8
TELO2 interacting protein 2
Upload your DNA to see your personal genotypes for variants in TTI2.
What This Gene Does
This gene encodes a regulator of the DNA damage response. The protein is a component of the Triple T complex (TTT) which also includes telomere length regulation protein and TELO2 interacting protein 1. The TTT complex is involved in cellular resistance to DNA damage stresses and may act as a regulator of phosphoinositide-3-kinase-related protein kinase (PIKK) abundance. [provided by RefSeq, May 2013]
Gene Info
Gene Group
"TTT complex|Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
8p12
Ensembl
ENSG00000129696
Associated Conditions (3)
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Inborn genetic diseases
TTI2-related disorder
Key Variants
RS138108276
Conflicting classifications of pathogenicity
Health Risk
RS138419634
Conflicting classifications of pathogenicity
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome, Inborn genetic diseases, Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Health Risk
RS199720231
Conflicting classifications of pathogenicity
TTI2-related disorder, TTI2-related disorder
Health Risk
RS201577994
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS3736497
Conflicting classifications of pathogenicity
Health Risk
RS752200108
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS758541435
Conflicting classifications of pathogenicity
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome, Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Health Risk
RS1563352011
Likely pathogenic
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome, Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Health Risk
RS1180962073
Pathogenic
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome, Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Health Risk
RS1809594670
Pathogenic
Health Risk
RS398122366
Pathogenic
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome, Inborn genetic diseases, Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Health Risk
RS398122367
Pathogenic
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome, Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138108276 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138419634 | Health Risk | Conflicting classifications of pathogenicity | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome, Inborn genetic diseases, Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome |
| RS199720231 | Health Risk | Conflicting classifications of pathogenicity | TTI2-related disorder, TTI2-related disorder |
| RS201577994 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS3736497 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS752200108 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS758541435 | Health Risk | Conflicting classifications of pathogenicity | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome, Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome |
| RS1563352011 | Health Risk | Likely pathogenic | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome, Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome |
| RS1180962073 | Health Risk | Pathogenic | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome, Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome |
| RS1809594670 | Health Risk | Pathogenic | — |
| RS398122366 | Health Risk | Pathogenic | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome, Inborn genetic diseases, Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome |
| RS398122367 | Health Risk | Pathogenic | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome, Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome |
| RS765235179 | Health Risk | Pathogenic | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome, Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome |
| RS200045967 | Health Risk | Pathogenic/Likely pathogenic | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome, Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome |