TEDC2

Chr 16

tubulin epsilon and delta complex 2

Also known as: C16orf59

NCBI Gene: 80178ENSG00000162062UniProt: Q7L2K0

Predicted to be involved in positive regulation of smoothened signaling pathway. Predicted to be located in centriole and cilium. [provided by Alliance of Genome Resources, Jul 2025]

69
ClinVar variants
30
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— TEDC2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
30 Pathogenic / Likely Pathogenic· 24 VUS of 69 total submissions
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?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.37LOEUF
pLI 0.000
Z-score 0.30
OE 0.93 (0.64–1.37)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.15Z-score
OE missense 1.03 (0.93–1.14)
258 obs / 251.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.93 (0.64–1.37)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.03 (0.93–1.14)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.17
0≤1.21.6
LoF obs/exp: 18 / 19.4Missense obs/exp: 258 / 251.5Syn Z: -1.39

ClinVar Variant Classifications

69 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic26
Likely Pathogenic4
VUS24
Likely Benign2
26
Pathogenic
4
Likely Pathogenic
24
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
26
0
26
Likely Pathogenic
0
0
4
0
4
VUS
0
7
17
0
24
Likely Benign
0
0
0
2
2
Benign
0
0
0
0
0
Total0747256

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

TEDC2 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications.
Miyake N et al.·Eur J Hum Genet
2025Case report
A pan-cancer analysis of the prognostic implication and oncogenic role of tubulin epsilon and delta complex 2 (TEDC2) in human tumors.
Liu Y et al.·Front Immunol
2024
Identification of potential prognostic markers for lung adenocarcinoma using comprehensive analysis.
Huang L et al.·Mol Med Rep
2023
Comprehensive analysis of transcriptomics and radiomics revealed the potential of TEDC2 as a diagnostic marker for lung adenocarcinoma.
Huang Q et al.·PeerJ
2024
Tubulin epsilon and delta complex 2 enhances malignancy in non-small cell lung cancer by activating the hedgehog signaling pathway to promote tumor cell stemness.
Jin Z et al.·Int J Biol Macromol
2026
TEDC2 correlated with prognosis and immune microenvironment in lung adenocarcinoma.
Fang L et al.·Sci Rep
2023
TEDC2 plays an oncogenic role and serves as a therapeutic target of hepatocellular carcinoma.
Li Y et al.·Dig Liver Dis
2024
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

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