TEX2

Chr 17

testis expressed 2

Also known as: HT008, TMEM96

NCBI Gene: 55852ENSG00000136478UniProt: Q8IWB9

The TEX2 protein facilitates non-vesicular transport of ceramides from the endoplasmic reticulum to the Golgi complex during ER stress, preventing toxic ceramide accumulation by enabling conversion to complex sphingolipids. No established human disease has been associated with TEX2 mutations. The gene appears tolerant to loss-of-function variants based on population genetics data.

Summary from RefSeq, UniProt
0
Active trials
3
Pubs (1 yr)
9
P/LP submissions
0%
P/LP missense
0.50
LOEUF
—
Mechanism
Clinical Summary— TEX2
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.33) despite low pLI — interpret in context.
📋
ClinVar Variants
9 unique Pathogenic / Likely Pathogenic· 146 VUS of 190 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.50LOEUF
pLI 0.000
Z-score 4.33
OE 0.33 (0.22–0.50)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.52Z-score
OE missense 0.83 (0.77–0.89)
510 obs / 616.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.33 (0.22–0.50)
0≤0.351.4
Missense OE0.83 (0.77–0.89)
0≤0.61.4
Synonymous OE1.00
0≤1.21.6
LoF obs/exp: 16 / 48.6Missense obs/exp: 510 / 616.3Syn Z: 0.05

ClinVar Variant Classifications

190 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic9
VUS146
Likely Benign9
9
Pathogenic
146
VUS
9
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
9
0
9
Likely Pathogenic
0
0
0
0
0
VUS
0
143
3
0
146
Likely Benign
0
8
0
1
9
Benign
0
0
0
0
0
Total0151121164

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

View in ClinVar →

Protein Context — Lollipop Plot

TEX2 · 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 4 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