TCTN3

Chr 10AR

tectonic family member 3

Also known as: C10orf61, JBTS18, OFD4, TECT3

NCBI Gene: 26123ENSG00000119977UniProt: Q6NUS6

This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]

Primary Disease Associations & Inheritance

Joubert syndrome 18MIM #614815
AR
Orofaciodigital syndrome IVMIM #258860
AR
1
Active trials
0
Pathogenic / LP
0
ClinVar variants
3
Pubs (1 yr)
0.8
Missense Z
1.04
LOEUF
Clinical Summary— TCTN3
🧬
Gene-Disease Validity (ClinGen)
ciliopathy · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.04LOEUF
pLI 0.000
Z-score 1.38
OE 0.73 (0.52–1.04)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.84Z-score
OE missense 0.87 (0.79–0.96)
273 obs / 314.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.73 (0.52–1.04)
0≤0.351.4
Missense OE0.87 (0.79–0.96)
0≤0.61.4
Synonymous OE0.96
0≤1.21.6
LoF obs/exp: 22 / 30.2Missense obs/exp: 273 / 314.7Syn Z: 0.38

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

TCTN3 · protein map & ClinVar variants

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

Gene2Phenotype Curations

TCTN3-related Mohr-Majewski syndrome

definitive
ARLoss Of FunctionAbsent Gene Product
Dev. DisordersSkeletal
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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