Basic Information

Symbol
TXNIP
RNA class
mRNA
Alias
Thioredoxin Interacting Protein VDUP1 EST01027 HHCPA78 ARRDC6 THIF Upregulated By 1,25-Dihydroxyvitamin D-3 Vitamin D3 Up-Regulated Protein 1 Thioredoxin-Interacting Protein Thioredoxin Binding Protein 2 Thioredoxin-Binding Protein 2
Location (GRCh38)
1:145992435-145996580
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Sudden cardiac death diagnosis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_006472.6
Sequence length
2905.0 nt
GC content
0.4375

Transcripts

ID Sequence Length GC content
NM_001313972.2 NCBI
AUUCUUUGUCUACUUCCUAUUUGAGAUGUUAGUAGAGAACUGUCCUGGG… 2610 nt 0.4345
NM_006472.6 NCBI
AAACUAACCCCUCUUUUUCUCCAAAGGAGUGCUUGUGGAGAUCGGAUCU… 2905 nt 0.4375
Summary

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]

Forensic Context

A study in humans using integrated single-cell transcriptomic datasets identified TXNIP as a core diagnostic biomarker specifically enriched in high oxidative stress (HOX) cardiomyocytes following acute myocardial infarction (AMI) [Hu et al. DOI:10.3390/antiox14121435]. This gene demonstrated stable diagnostic capability in independent validation cohorts, with an area under the curve (AUC) of 0.716, and was significantly upregulated in AMI tissue compared to controls, indicating its role in oxidative stress sensing and response.