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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TSC22D2
TSC22 domain family member 2
Chromosome 3 · 3q25.1
NCBI Gene: 9819Ensembl: ENSG00000196428.14HGNC: HGNC:29095UniProt: B4DN36
32PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnegative regulation of cell cycleregulation of transcription by RNA polymerase IItype 2 diabetes mellitushypertensionAbnormality of the skeletal systemdiabetes mellitus
✦AI Summary

TSC22D2 is a growth-suppressive adaptor protein that functions through multiple regulatory pathways. Primarily, TSC22D2 reduces nuclear localization of pyruvate kinase M2 (PKM2) isoform, thereby repressing cyclin D1 transcription and inhibiting cell growth 1. TSC22D2 is significantly downregulated in colorectal cancer, with overexpression demonstrating growth-inhibitory effects 1. Beyond oncogenic control, TSC22D2 participates in osmotic stress responses as part of a functional buffering system with WNK kinases and NRBP1 proteins, regulating rapid cell volume homeostasis through biomolecular condensate formation 2. In kidney distal convoluted tubules, TSC22D2 serves as a positive modulator of WNK signaling, influencing sodium reabsorption and epithelial ion transport 3. During inflammatory responses, anti-inflammatory miRNAs suppress TSC22D2 expression, which promotes regulatory T cell differentiation via STAT3 signaling and inhibits pro-inflammatory M1-macrophage polarization 4. A novel TSC22D2 mutation (c.-91T-C) cosegregated with multi-cancer phenotypes in a familial pedigree 5. TSC22D2 represents a promising biomarker for pancreatic adenocarcinoma prognosis, with elevated expression correlating with worse outcomes 6. Functionally, TSC22D2 exhibits dual roles as both a tumor suppressor and osmotic regulator through protein-protein interactions.

Sources cited
1
TSC22D2 interacts with PKM2, reduces nuclear PKM2 levels, suppresses cyclin D1 expression, and inhibits colorectal cancer cell growth
PMID: 27573352
2
TSC22D2 novel mutation (c.-91T-C) identified as candidate susceptibility gene in multi-cancer pedigree mapped to chromosome 3q24-26
PMID: 31125406
3
TSC22D2, WNK, and NRBP gene families are functionally buffered and co-evolved in metazoans for cell volume regulation through biomolecular condensate formation
PMID: 38980795
4
TSC22D2 localizes to kidney DCT WNK bodies and acts as positive modulator of WNK4 signaling, affecting sodium reabsorption
PMID: 40668923
5
Anti-inflammatory miRNAs in extracellular vesicles decrease TSC22D2 expression, promoting Treg differentiation via STAT3 signaling and inhibiting M1-macrophage polarization
PMID: 37554446
6
TSC22D2 is an independent prognostic predictor in pancreatic adenocarcinoma with elevated expression in cancer tissues associated with worse prognosis
PMID: 36894917
7
TSC22D2 identified as featured cuproptosis-related gene in hepatic ischemia-reperfusion injury diagnostic model
PMID: 38935114
8
TSC22D2/4 adaptor proteins associate with NRBP1 pseudokinase and WNK1 in response to osmotic stress via proximity labeling and immunoprecipitation
PMID: 40668933
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.42Moderate
hypertensionOpen Targets
0.41Moderate
Abnormality of the skeletal systemOpen Targets
0.40Moderate
diabetes mellitusOpen Targets
0.40Moderate
essential hypertensionOpen Targets
0.38Weak
glaucomaOpen Targets
0.37Weak
open-angle glaucomaOpen Targets
0.34Weak
cardiovascular diseaseOpen Targets
0.33Weak
Increased blood pressureOpen Targets
0.31Weak
neurodegenerative diseaseOpen Targets
0.30Weak
coronary artery diseaseOpen Targets
0.30Weak
Abruptio PlacentaeOpen Targets
0.30Weak
uterine fibroidOpen Targets
0.29Weak
Abnormality of refractionOpen Targets
0.27Weak
metabolic syndromeOpen Targets
0.27Weak
agingOpen Targets
0.26Weak
attention deficit hyperactivity disorderOpen Targets
0.26Weak
orofacial cleftOpen Targets
0.25Weak
exostosisOpen Targets
0.25Weak
VitiligoOpen Targets
0.24Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HOXD10Shared pathway100%THAP5Shared pathway100%NRBP1Protein interaction74%TSC22D3Protein interaction74%TSC22D4Protein interaction74%NUDT6Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
55%
Heart
55%
Brain
49%
Ovary
43%
Lung
41%
Gene Interaction Network
Click a node to explore
TSC22D2HOXD10THAP5NRBP1TSC22D3TSC22D4NUDT6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O75157
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.22Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.11 [0.05–0.22]
RankingsWhere TSC22D2 stands among ~20K protein-coding genes
  • #11,643of 20,598
    Most Researched32
  • #571of 17,882
    Most Constrained (LOEUF)0.22 · top 5%
Genes detectedTSC22D2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
TSC22D2 identified as a candidate susceptibility gene of multi-cancer pedigree using genome-wide linkage analysis and whole-exome sequencing.
PMID: 31125406
Carcinogenesis · 2019
1.00
2
Comprehensive analysis of cuproptosis-related genes involved in immune infiltration and their use in the diagnosis of hepatic ischemia-reperfusion injury: an experimental study.
PMID: 38935114
Int J Surg · 2025
0.90
3
The TSC22D, WNK, and NRBP gene families exhibit functional buffering and evolved with Metazoa for cell volume regulation.
PMID: 38980795
Cell Rep · 2024
0.80
4
NRBP1 pseudokinase binds to and activates the WNK pathway in response to osmotic stress.
PMID: 40668933
Sci Adv · 2025
0.70
5
A novel cuproptosis-related gene model predicts outcomes and treatment responses in pancreatic adenocarcinoma.
PMID: 36894917
BMC Cancer · 2023
0.60