TEX29

Chr 13

testis expressed 29

Also known as: C13orf16, bA474D23.1

NCBI Gene: 121793ENSG00000153495UniProt: Q8N6K0

TEX29 encodes a protein predicted to be located in cellular membranes, though its specific function remains unclear. The gene is highly constrained against loss-of-function variants (pLI ~1.0), suggesting it is essential for normal cellular function, but no definitive disease associations have been established in humans. Further research is needed to determine if TEX29 mutations cause pediatric neurological disorders.

Summary from RefSeq
Research Assistant →
0
Active trials
2
Pubs (1 yr)
111
P/LP submissions
0%
P/LP missense
1.65
LOEUF
Multiple*
Mechanism· predicted
Clinical Summary— TEX29
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
111 unique Pathogenic / Likely Pathogenic· 32 VUS of 155 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.65LOEUF
pLI 0.000
Z-score 0.15
OE 0.94 (0.55–1.65)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.39Z-score
OE missense 0.89 (0.74–1.06)
84 obs / 94.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.94 (0.55–1.65)
0≤0.351.4
Missense OE0.89 (0.74–1.06)
0≤0.61.4
Synonymous OE1.05
0≤1.21.6
LoF obs/exp: 8 / 8.5Missense obs/exp: 84 / 94.6Syn Z: -0.26
DN
0.74top 25%
GOF
0.6540th %ile
LOF
0.2484th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

155 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic109
Likely Pathogenic2
VUS32
Likely Benign2
109
Pathogenic
2
Likely Pathogenic
32
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
109
0
109
Likely Pathogenic
0
0
2
0
2
VUS
0
25
7
0
32
Likely Benign
0
2
0
0
2
Benign
0
0
0
0
0
Total0271180145

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

View in ClinVar →

Protein Context — Lollipop Plot

TEX29 · 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 →
Clinical Literature
Open Research Assistant →
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 2 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