TSC22D3

Chr X

TSC22 domain family member 3

Also known as: DIP, DSIPI, GILZ, TSC-22R

NCBI Gene: 1831 ENSG00000157514 UniProt: Q99576 OMIM: 300506

The glucocorticoid-induced leucine zipper protein mediates anti-inflammatory and immunosuppressive effects by inhibiting pro-inflammatory transcription factors including NF-κB and protecting T-cells from apoptosis. Mutations in TSC22D3 have not been established as a cause of Mendelian disease in humans. The gene shows moderate tolerance to loss-of-function variants with a pLI of 0.43 and LOEUF of 0.88.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes the anti-inflammatory protein glucocorticoid (GC)-induced leucine zipper. Expression of this gene stimulated by glucocorticoids and interleukin 10 and it appears to play a key role in the anti-inflammatory and immunosuppressive effects of this steroid. This protein has also been shown to inhibit pro-inflammatory molecules including nuclear factor κB. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

OMIM 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.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.88

LOEUF

GOF

Mechanism· predicted