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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TSC22D1
TSC22 domain family member 1
Chromosome 13 · 13q14.11
NCBI Gene: 8848Ensembl: ENSG00000102804.17HGNC: HGNC:16826UniProt: A8K3Y6
64PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transcription coactivator activitypositive regulation of transforming growth factor beta receptor signaling pathwaypositive regulation of apoptotic processprotein bindingneurodegenerative diseaseHirsutismCachexiapsoriasis
✦AI Summary

TSC22D1 (TSC22 domain family member 1) is a multifunctional transcriptional regulator with tissue-specific and context-dependent roles in cell physiology and disease. Primary functions include regulating cell death, apoptosis, and transcriptional processes 1. TSC22D1 exhibits isoform-dependent activities: short isoforms function as tumor suppressors promoting apoptosis and cell-cycle exit 2, while long isoforms paradoxically promote cell proliferation 2. Mechanistically, TSC22D1 operates through multiple pathways: it inhibits insulin secretion in pancreatic beta cells by interacting with FoxO1 and regulating glucose-responsive processes 3, modulates WNK kinase signaling in kidney distal convoluted tubules to regulate sodium reabsorption 4, and mediates LSEC-macrophage communication via the TWEAK/FN14 pathway 1. TSC22D1 localizes to nucleus, cytoplasm, and mitochondria depending on isoform and cellular context 5. Clinically, elevated TSC22D1 expression predicts tamoxifen resistance in breast cancer patients 6, while TSC22D1 inhibition reduces non-alcoholic fatty liver disease progression to fibrosis 1. These findings establish TSC22D1 as a multivalent regulator with potential therapeutic implications in metabolic diseases, liver fibrosis, and cancer resistance.

Sources cited
1
TSC22D1 mediates LSEC-macrophage communication via TWEAK/FN14 pathway, promotes M1 polarization, and exacerbates liver fibrosis in NAFLD
PMID: 40901684
2
TSC22D1 inhibits insulin secretion by interacting with FoxO1 and regulating glucose-responsive cellular processes in pancreatic beta cells
PMID: 40679946
3
TSC22D1 isoforms localize to WNK bodies and positively modulate WNK4 activity to regulate sodium reabsorption in kidney distal convoluted tubules
PMID: 40668923
4
TSC22D1 isoforms have distinct subcellular localizations: TSC22D1-1 in nucleus, TSC22D1-2 in mitochondria/cytoplasm, and TSC22D1-3 in both compartments
PMID: 34681573
5
TSC22D1 short isoforms function as tumor suppressors promoting cell-cycle exit, while long isoforms promote cell proliferation
PMID: 30912127
6
High TSC22D1 mRNA levels predict tamoxifen resistance and shorter progression-free survival in breast cancer patients
PMID: 18299979
7
TSC22D1 interacts with WNK-OSR1/SPAK pathway kinases through conserved C-terminal domain motifs
PMID: 40913030
8
TSC22D1 is identified as a putative regulatory protein binding the human CNP gene promoter
PMID: 21816187
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.41Moderate
HirsutismOpen Targets
0.28Weak
CachexiaOpen Targets
0.28Weak
psoriasisOpen Targets
0.26Weak
amblyopiaOpen Targets
0.25Weak
bacteriemiaOpen Targets
0.25Weak
cervical carcinomaOpen Targets
0.24Weak
psoriasis vulgarisOpen Targets
0.22Weak
Abnormality of refractionOpen Targets
0.20Weak
hemangioma of subcutaneous tissueOpen Targets
0.19Weak
cervical cancerOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.06Suggestive
gastric cancerOpen Targets
0.03Suggestive
obesityOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
Abnormal nasolacrimal system morphologyOpen Targets
0.02Suggestive
smoking initiationOpen Targets
0.02Suggestive
type 2 diabetes mellitusOpen Targets
0.02Suggestive
salivary gland cancerOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NRBP1Protein interaction92%TSC22D3Protein interaction82%TSC22D4Protein interaction82%LDLRAD4Protein interaction72%FANK1Shared pathway29%UBE2ZShared pathway29%
Tissue Expression6 tissues
Brain
100%
Ovary
77%
Heart
67%
Lung
53%
Liver
30%
Bone Marrow
25%
Gene Interaction Network
Click a node to explore
TSC22D1NRBP1TSC22D3TSC22D4LDLRAD4FANK1UBE2Z
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q15714
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.20Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.11 [0.07–0.20]
RankingsWhere TSC22D1 stands among ~20K protein-coding genes
  • #7,325of 20,598
    Most Researched64
  • #445of 17,882
    Most Constrained (LOEUF)0.20 · top 5%
Genes detectedTSC22D1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PMID: 40901684
World J Gastroenterol · 2025
1.00
2
TSC22D1 is a newly identified inhibitor of insulin secretion in pancreatic beta cells.
PMID: 40679946
FEBS J · 2025
0.90
3
NRBP1 and TSC22D proteins affect distal convoluted tubule physiology through modulation of the WNK pathway.
PMID: 40668923
Sci Adv · 2025
0.80
4
Identification of Binding Proteins for TSC22D1 Family Proteins Using Mass Spectrometry.
PMID: 34681573
Int J Mol Sci · 2021
0.70
5
Kinase interaction analysis predicts actions of the WNK-OSR1/SPAK pathway.
PMID: 40913030
Commun Biol · 2025
0.60