TTI1

Chr 20

TELO2 interacting protein 1

Also known as: KIAA0406, NEDMIM, smg-10

NCBI Gene: 9675ENSG00000101407UniProt: O43156

Enables kinase binding activity and protein-containing complex stabilizing activity. Involved in positive regulation of DNA damage checkpoint and regulation of TOR signaling. Acts upstream of or within protein stabilization. Located in cytoplasm. Part of TORC1 complex; TORC2 complex; and TTT Hsp90 cochaperone complex. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with microcephaly and movement abnormalities
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.82
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.82LOEUF
pLI 0.000
Z-score 2.42
OE 0.57 (0.40–0.82)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.22Z-score
OE missense 0.97 (0.91–1.04)
545 obs / 559.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.57 (0.40–0.82)
0≤0.351.4
Missense OE?0.97 (0.91–1.04)
0≤0.61.4
Synonymous OE?1.06
0≤1.21.6
LoF obs/exp: 21 / 36.9Missense obs/exp: 545 / 559.6Syn Z: -0.72

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TTI1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients