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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TSC22D4
TSC22 domain family member 4
Chromosome 7 · 7q22.1
NCBI Gene: 81628Ensembl: ENSG00000166925.10HGNC: HGNC:21696UniProt: B4DKI8
51PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnegative regulation of transcription by RNA polymerase IIresponse to osmotic stressglucose homeostasisneurodegenerative diseaseAbnormality of the skeletal systemneoplasmsquamous cell carcinoma
✦AI Summary

TSC22D4 (TSC22 domain family member 4) functions as a transcriptional repressor that plays critical roles in metabolic homeostasis and disease progression. The protein acts as a negative regulator of insulin signaling and glucose metabolism, with hepatic TSC22D4 inhibition preventing and reversing hyperglycemia, glucose intolerance, and insulin resistance in diabetic mouse models 1. TSC22D4 exerts these metabolic effects through direct transcriptional regulation of targets including lipocalin 13 (LCN13), and its expression correlates with decreased insulin sensitivity and hyperglycemia in human diabetic patients 1. In liver disease, hepatocyte-specific TSC22D4 activity promotes progressive NAFLD by impairing mitochondrial function, with knockout mice showing reduced liver lipid accumulation and improved steatosis scores 2. TSC22D4 also contributes to liver fibrosis by promoting TGF-β1-induced activation, proliferation, and migration of hepatic stellate cells 3. Beyond metabolic functions, TSC22D4 participates in osmotic stress responses through interaction with the WNK signaling pathway, forming complexes with WNK1, SPAK, and NRBP1 4. The protein shows cell-type-specific expression patterns and has been identified as a co-regulated target with APOE in brain cells 5. These findings establish TSC22D4 as a key therapeutic target for diabetes and liver disease.

Sources cited
1
TSC22D4 acts as transcriptional repressor regulating insulin sensitivity and glucose homeostasis through LCN13
PMID: 27827363
2
Hepatocyte-specific TSC22D4 promotes NAFLD progression by impairing mitochondrial function
PMID: 35378329
3
TSC22D4 promotes TGF-β1-induced activation and function of hepatic stellate cells in liver fibrosis
PMID: 35714570
4
TSC22D4 participates in osmotic stress responses through WNK pathway interactions
PMID: 40668933
5
TSC22D4 is co-regulated with APOE and shows cell-type-specific expression in brain cells
PMID: 38699303
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.34Weak
Abnormality of the skeletal systemOpen Targets
0.10Weak
neoplasmOpen Targets
0.07Suggestive
squamous cell carcinomaOpen Targets
0.06Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.04Suggestive
age-related macular degenerationOpen Targets
0.03Suggestive
atrophic macular degenerationOpen Targets
0.03Suggestive
wet macular degenerationOpen Targets
0.03Suggestive
benign urinary system neoplasmOpen Targets
0.03Suggestive
skin diseaseOpen Targets
0.02Suggestive
non-alcoholic steatohepatitisOpen Targets
0.02Suggestive
Insulin resistanceOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
esophageal squamous cell carcinomaOpen Targets
0.02Suggestive
HyperglycemiaOpen Targets
0.02Suggestive
basal cell carcinomaOpen Targets
0.02Suggestive
CachexiaOpen Targets
0.02Suggestive
response to allogeneic hematopoietic stem cell transplantOpen Targets
0.02Suggestive
Glucose intoleranceOpen Targets
0.02Suggestive
medulloblastomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NRBP1Protein interaction92%NRBP2Protein interaction83%TSC22D1Protein interaction82%TSC22D2Protein interaction74%LHX4Protein interaction73%TSC22D3Protein interaction70%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
95%
Ovary
53%
Lung
49%
Liver
31%
Heart
26%
Gene Interaction Network
Click a node to explore
TSC22D4NRBP1NRBP2TSC22D1TSC22D2LHX4TSC22D3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9Y3Q8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.54Moderately Constrained
pLIⓘ
0.94Intolerant
Observed/Expected LoF0.26 [0.13–0.54]
RankingsWhere TSC22D4 stands among ~20K protein-coding genes
  • #8,748of 20,598
    Most Researched51
  • #3,450of 17,882
    Most Constrained (LOEUF)0.54 · top quartile
Genes detectedTSC22D4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
NRBP1 pseudokinase binds to and activates the WNK pathway in response to osmotic stress.
PMID: 40668933
Sci Adv · 2025
1.00
2
Comparative gene regulatory networks modulating
PMID: 38699303
medRxiv · 2024
0.90
3
Control of diabetic hyperglycaemia and insulin resistance through TSC22D4.
PMID: 27827363
Nat Commun · 2016
0.80
4
Hepatocyte-specific activity of TSC22D4 triggers progressive NAFLD by impairing mitochondrial function.
PMID: 35378329
Mol Metab · 2022
0.70
5
TSC22D4 promotes TGFβ1-induced activation of hepatic stellate cells.
PMID: 35714570
Biochem Biophys Res Commun · 2022
0.60