Home > Gene Browser > TXNIP

TXNIP

Synonyms
ARRDC6, EST01027, HHCPA78, THIF, VDUP1
External resources
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.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
13
Likely pathogenic
0
VUS
612
Likely benign
73
Benign
0

Patient phenotypes

Proportions of phenotypes among 11 patients carring pathogenic or likely pathogenic variants on TXNIP gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
54.5%
Abnormality of the nervous system
54.5%
Abnormality of head or neck
27.3%
Abnormality of limbs
27.3%
Abnormality of the cardiovascular system
18.2%
Abnormality of the digestive system
18.2%
Abnormality of the ear
18.2%
Abnormality of the eye
18.2%
Abnormality of the genitourinary system
18.2%
Abnormality of blood and blood-forming tissues
9.1%
Abnormality of the respiratory system
9.1%
Growth abnormality
9.1%
Neoplasm
9.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes