TSC22D3

TSC22 Domain Family Member 3 (GILZ)

Gene Information Card

Symbol TSC22D3
Full Name TSC22 domain family member 3
Gene Type protein-coding
Chromosomal Location Xq22.3
NCBI Gene ID 1831 ncbi.nlm.nih.gov/gene/1831
Ensembl ID ENSG00000157514
UniProt ID Q99576
OMIM ID 300506
HGNC ID 3051
Aliases GILZ, DSIPI, hDIP, TSC22R

Description

TSC22D3 (TSC22 domain family member 3), commonly known as GILZ (glucocorticoid-induced leucine zipper), is a protein-coding gene located on chromosome Xq22.3. It encodes a leucine zipper protein that is rapidly induced by glucocorticoids and acts as a key mediator of their anti-inflammatory and immunosuppressive effects. GILZ functions by binding to and inhibiting NF-κB and AP-1 transcription factors, thereby modulating cytokine production and apoptosis. The gene is also involved in cell differentiation, proliferation, and survival, with implications in cancer, autoimmune diseases, and inflammatory disorders.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Inflammatory diseases (e.g., rheumatoid arthritis, asthma) GILZ downregulation leads to increased NF-κB activity and pro-inflammatory cytokine production PubMed, NCBI Gene
Acute lymphoblastic leukemia (ALL) GILZ mediates glucocorticoid-induced apoptosis; resistance linked to reduced GILZ expression COSMIC, PubMed
Multiple sclerosis Reduced GILZ expression in immune cells correlates with disease activity PubMed
Colorectal cancer GILZ overexpression suppresses tumor growth via inhibition of Wnt/β-catenin signaling PubMed

Expression Profile

Tissue Expression
Tissue nTPM level
Lymph node 12.5 Medium
Spleen 10.8 Medium
Lung 8.2 Medium
Bone marrow 7.5 Low
Small intestine 6.9 Low
Brain 2.1 Not detected
Cell Line Expression
Cell Line nTPM Notes
HeLa 15.3 Cervical cancer cell line
A549 12.1 Lung carcinoma cell line
Jurkat 18.7 T-cell leukemia cell line
HEK293 9.4 Embryonic kidney cell line
MCF7 6.8 Breast cancer cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1?) missense <0.01% Loss of start codon; likely loss of function
c.100C>T (p.Arg34Trp) missense <0.01% Unknown functional effect
c.200_201insA frameshift <0.01% Predicted loss of function
Mutation functional classification

Loss of Function (LOF)

Frameshift and start-loss mutations are predicted to result in loss of GILZ protein function, potentially reducing anti-inflammatory capacity.

Gain of Function (GOF)

No gain-of-function mutations have been reported in TSC22D3.

Dominant Negative (DN)

No dominant-negative mutations have been characterized for TSC22D3.

Pathways

Glucocorticoid receptor signaling pathway
NF-kappa B signaling pathway
Apoptosis signaling pathway

Protein Summary

The TSC22D3 protein (GILZ) is a 137-amino acid leucine zipper protein that localizes to both the nucleus and cytoplasm. It contains a TSC22 domain and a leucine zipper motif. GILZ is rapidly induced by glucocorticoids and mediates their anti-inflammatory effects by directly binding to NF-κB and AP-1, inhibiting their transcriptional activity. It also modulates apoptosis, cell cycle, and differentiation. Post-translational modifications include phosphorylation and ubiquitination, which regulate its stability and function.

Related Products

Product name Cat.No. Species Gene ID
TSC22D3 Knockout HEK293 Cell Line EDJ-KQ50244 Human 1831 Details Get a Quote
TSC22D3 Knockout HeLa Cell Line EDJ-KQ53124 Human 1831 Details Get a Quote
TSC22D3 Knockout A-549 Cell Line EDJ-KQ61596 Human 1831 Details Get a Quote
TSC22D3 Knockout HCT 116 Cell Line EDJ-KQ70086 Human 1831 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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