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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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THSD7B
thrombospondin type 1 domain containing 7B
Chromosome 2 · 2q22.1
NCBI Gene: 80731Ensembl: ENSG00000144229.13HGNC: HGNC:29348UniProt: Q9C0I4
17PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingactin cytoskeleton organizationplasma membranemembraneintelligencesmoking initiationmathematical abilityplacenta praevia
✦AI Summary

THSD7B (thrombospondin type 1 domain containing 7B) is a protein involved in actin cytoskeleton organization and plasma membrane interactions. Genetically, THSD7B variants are associated with multiple addiction phenotypes, including alcohol dependence 1 and nicotine dependence 2, with evidence suggesting shared genetic architecture across substance addictions. In cancer biology, THSD7B exhibits context-dependent roles: mutations confer platinum resistance and poor prognosis in small cell lung cancer through inhibition of cell death pathways and downregulation of immune responses 3, while heterozygous mutations have been identified in familial lung adenocarcinoma 4. Conversely, exercise-induced upregulation of THSD7B correlates with tumor suppression and improved prognosis across multiple cancer types 5. THSD7B variants also associate with apolipoprotein A-II regulation during pregnancy 6 and exhibit differential methylation in oral leukoplakia 7. A novel NFIB::THSD7B fusion has been identified in lacrimal gland adenoid cystic carcinoma 8. Collectively, THSD7B represents a pleiotropic gene with implications for addiction susceptibility, cancer prognosis, and metabolic regulation, suggesting potential therapeutic targeting in specific disease contexts.

Sources cited
1
THSD7B variants associated with alcohol dependence in genome-wide meta-analysis
PMID: 21703634
2
THSD7B mutations induce platinum resistance in small cell lung cancer through inhibition of cell death and immune response pathways
PMID: 35685767
3
Exercise-upregulated THSD7B exhibits tumor-suppressive functionality and positive prognostic outcomes across multiple cancer types
PMID: 39161765
4
Heterozygous THSD7B mutation identified in familial lung adenocarcinoma with predicted deleterious effects on protein stability
PMID: 36820582
5
THSD7B variants associated with apolipoprotein A-II regulation in pregnancy
PMID: 39842285
6
Novel NFIB::THSD7B fusion identified in lacrimal gland adenoid cystic carcinoma
PMID: 37706251
7
THSD7B exhibits differential methylation patterns in oral leukoplakia versus healthy controls
PMID: 38852153
8
THSD7B associated with nicotine dependence phenotypes and shares genetic architecture with other substance addictions
PMID: 31294817
Disease Associationsⓘ20
intelligenceOpen Targets
0.46Moderate
smoking initiationOpen Targets
0.46Moderate
mathematical abilityOpen Targets
0.45Moderate
placenta praeviaOpen Targets
0.39Weak
risk-taking behaviourOpen Targets
0.39Weak
substance abuseOpen Targets
0.38Weak
attention deficit hyperactivity disorderOpen Targets
0.38Weak
obesityOpen Targets
0.35Weak
cardiac arrestOpen Targets
0.33Weak
alcohol drinkingOpen Targets
0.33Weak
connective tissue neoplasmOpen Targets
0.31Weak
smoking behaviorOpen Targets
0.31Weak
post-traumatic stress disorderOpen Targets
0.30Weak
liver diseaseOpen Targets
0.30Weak
connective tissue diseaseOpen Targets
0.29Weak
diabetes mellitusOpen Targets
0.29Weak
ovarian dysfunctionOpen Targets
0.28Weak
placental retentionOpen Targets
0.28Weak
strictureOpen Targets
0.27Weak
bone neoplasmOpen Targets
0.26Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FLNBShared pathway100%SPTAN1Shared pathway100%ACAP1Shared pathway100%PHACTR2Shared pathway100%SMTNL2Shared pathway100%THSD7AShared pathway100%
Tissue Expression6 tissues
Brain
100%
Heart
59%
Ovary
7%
Liver
4%
Lung
3%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
THSD7BFLNBSPTAN1ACAP1PHACTR2SMTNL2THSD7A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9C0I4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.76LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.66 [0.57–0.76]
RankingsWhere THSD7B stands among ~20K protein-coding genes
  • #15,141of 20,598
    Most Researched17
  • #6,140of 17,882
    Most Constrained (LOEUF)0.76
Genes detectedTHSD7B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.
PMID: 21703634
J Psychiatr Res · 2011
1.00
2
THSD7B Mutation Induces Platinum Resistance in Small Cell Lung Cancer Patients.
PMID: 35685767
Drug Des Devel Ther · 2022
0.90
3
Exercise-augmented THSD7B exhibited a positive prognostic implication and tumor-suppressed functionality in pan-cancer.
PMID: 39161765
Front Immunol · 2024
0.80
4
Identification of THSD7B and PRMT9 mutations as risk factors for familial lung adenocarcinoma: A case report.
PMID: 36820582
Medicine (Baltimore) · 2023
0.70
5
Characterisation of pregnancy-induced alterations in apolipoproteins and their associations with maternal metabolic risk factors and offspring birth outcomes: a preconception and longitudinal cohort study.
PMID: 39842285
EBioMedicine · 2025
0.60