HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
THBS4
thrombospondin 4
Chromosome 5 · 5q14.1
NCBI Gene: 7060Ensembl: ENSG00000113296.14HGNC: HGNC:11788UniProt: B7Z832
83PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
integrin bindingcalcium ion bindingprotein bindingheparin bindingAbnormality of the skeletal systemAbnormality of refractionattention deficit hyperactivity disordersubstance abuse
✦AI Summary

THBS4 (thrombospondin-4) is an adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions through integrin binding and extracellular matrix modulation. Primary functions include regulating cellular proliferation, migration, and inflammatory responses across multiple tissues 1. Mechanistically, THBS4 operates through several pathways. In keratinocytes, it activates signaling cascades controlling proliferation, migration, and inflammation-related genes 1. In pulmonary arterial hypertension, THBS4 promotes smooth muscle cell phenotype transformation and proliferation via PI3K/AKT pathway activation 2. In cardiac tissue, THBS4 regulates endoplasmic reticulum stress responses through interaction with transcriptional regulators, enabling adaptive remodeling under pressure overload 3. In cancer cells, THBS4 promotes proliferation and metastasis by interacting with integrin-β1 and activating FAK/PI3K/AKT signaling 4. Disease relevance spans multiple pathologies: THBS4 predicts poor prognosis in gastric cancer via KLF9-dependent mechanisms 5, accumulates in Alzheimer disease β-amyloid plaques with sex-specific effects on gray matter volumes 6, and increases in Duchenne muscular dystrophy muscle lesions during fibrosis and calcification 7. Clinically, elevated circulating THBS4 distinguishes irreversible from reversible pulmonary arterial hypertension in congenital heart disease, offering diagnostic and therapeutic potential 2. THBS4 shows promise as a wound healing therapeutic target 1 and influences systemic proteome in metformin-treated diabetes patients 8.

Sources cited
1
THBS4 stimulates keratinocyte proliferation and migration in 3D and regulates signaling pathways linked to proliferation, migration, and inflammation; associated with wound healing
PMID: 36566568
2
THBS4 is upregulated in irreversible pulmonary arterial hypertension; promotes smooth muscle cell proliferation and phenotype transformation via PI3K/AKT pathway; circulating THBS4 distinguishes disease stages in PAH-CHD
PMID: 39154161
3
THBS4 is upregulated in gastric cancer, predicts poor prognosis, and promotes cell proliferation and metastasis via KLF9 targeting
PMID: 30746617
4
THBS4 is involved in inflammatory responses and synaptogenesis; accumulates in Alzheimer disease β-amyloid plaques; shows sex-specific effects on brain expression and gray matter volumes
PMID: 23420636
5
THBS4 expression is increased in areas of fibrosis and calcification in Duchenne muscular dystrophy skeletal muscle pathology
PMID: 37582915
6
MLL4 transcriptionally activates THBS4 to regulate endoplasmic reticulum stress response and protect against pressure overload-induced cardiac hypertrophy and heart failure
PMID: 38876442
7
THBS4 promotes hepatocellular carcinoma proliferation and metastasis by interacting with integrin-β1 and activating FAK/PI3K/AKT pathway
PMID: 32567740
8
Circulating THBS4 levels are significantly associated with metformin exposure in type 2 diabetes patients across multiple proteomics platforms
PMID: 40684475
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.68Moderate
Abnormality of refractionOpen Targets
0.30Weak
attention deficit hyperactivity disorderOpen Targets
0.23Weak
substance abuseOpen Targets
0.23Weak
smoking initiationOpen Targets
0.19Weak
Varicose veinsOpen Targets
0.15Weak
post term pregnancyOpen Targets
0.14Weak
lymphatic system diseaseOpen Targets
0.12Weak
neoplasmOpen Targets
0.11Weak
vein disorderOpen Targets
0.10Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
glaucomaOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
posterior cortical atrophyOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
Abnormality of the gastrointestinal tractOpen Targets
0.08Suggestive
bladder transitional cell carcinomaOpen Targets
0.08Suggestive
severe malarial anemiaOpen Targets
0.08Suggestive
pulmonary arterial hypertensionOpen Targets
0.07Suggestive
congenital heart diseaseOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ITGA6Protein interaction100%ITGA5Protein interaction95%ITGA2Protein interaction92%ATF6Protein interaction92%ITGA4Protein interaction88%ITGA8Protein interaction87%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
44%
Brain
9%
Ovary
4%
Lung
1%
Liver
1%
Gene Interaction Network
Click a node to explore
THBS4ITGA6ITGA5ITGA2ATF6ITGA4ITGA8
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P35443
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.95LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.79 [0.67–0.95]
RankingsWhere THBS4 stands among ~20K protein-coding genes
  • #5,761of 20,598
    Most Researched83
  • #8,828of 17,882
    Most Constrained (LOEUF)0.95
Genes detectedTHBS4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Stimulation with THBS4 activates pathways that regulate proliferation, migration and inflammation in primary human keratinocytes.
PMID: 36566568
Biochem Biophys Res Commun · 2023
1.00
2
The role and mechanism of thrombospondin-4 in pulmonary arterial hypertension associated with congenital heart disease.
PMID: 39154161
Respir Res · 2024
0.90
3
THBS4 predicts poor outcomes and promotes proliferation and metastasis in gastric cancer.
PMID: 30746617
J Physiol Biochem · 2019
0.80
4
Long-standing balancing selection in the THBS4 gene: influence on sex-specific brain expression and gray matter volumes in Alzheimer disease.
PMID: 23420636
Hum Mutat · 2013
0.70
5
Spatial transcriptomics reveal markers of histopathological changes in Duchenne muscular dystrophy mouse models.
PMID: 37582915
Nat Commun · 2023
0.60