TTI2

Chr 8p12

TELO2 interacting protein 2

Aliases:: FLJ23263
MANE:: ENST00000431156.7

OMIM: 614426 ↗NCBI: 80185 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TTI2 · Q6NXR4

v62025-08-01

Predicted Aligned Error matrix for TTI2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.4/ 100

Confident

508 residues

Confidence breakdown

Very high(≥ 90)58%
Confident(70–90)24%
Low(50–70)9%
Very low(< 50)8%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
0.71
neurodegenerative disease
0.53
Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome
0.53
hereditary disease
0.47
autosomal recessive non-syndromic intellectual disability
0.46
lysosomal storage disease
0.35
obesity disorder
0.23
Abnormality of the skeletal system
0.20
microcephaly
0.14
arthritic joint disease
0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

TELO2-interacting protein 2

Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex is involved in the cellular resistance to DNA damage stresses, like ionizing radiation (IR), ultraviolet (UV) and mitomycin C (MMC). Together with the TTT complex and HSP90 may participate in the proper folding of newly synthesized PIKKs