TXNIP

Chr 1

thioredoxin interacting protein

Also known as: ARRDC6, EST01027, HHCPA78, THIF, VDUP1

NCBI Gene: 10628ENSG00000265972UniProt: Q9H3M7

This gene encodes a thioredoxin-binding protein that is a member of the alpha arrestin protein family. Thioredoxin is a thiol-oxidoreductase that is a major regulator of cellular redox signaling which protects cells from oxidative stress. This protein inhibits the antioxidative function of thioredoxin resulting in the accumulation of reactive oxygen species and cellular stress. This protein also functions as a regulator of cellular metabolism and of endoplasmic reticulum (ER) stress. This protein may also function as a tumor suppressor. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
471
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.55
LOEUF
Multiple*
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
Moderate LoF intolerance
LoF Constraint?
0.55LOEUF
pLI 0.159
Z-score 3.00
OE 0.26 (0.14–0.55)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
-1.28Z-score
OE missense 1.25 (1.13–1.38)
262 obs / 209.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.26 (0.14–0.55)
0≤0.351.4
Missense OE?1.25 (1.13–1.38)
0≤0.61.4
Synonymous OE?1.61
0≤1.21.6
LoF obs/exp: 5 / 19.1Missense obs/exp: 262 / 209.7Syn Z: -4.22

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TXNIP · 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