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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SOX7
SRY-box transcription factor 7
Chromosome 8 · 8p23.1
NCBI Gene: 83595Ensembl: ENSG00000171056.8HGNC: HGNC:18196UniProt: Q9BT81
70PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleuscytoplasmDNA-binding transcription factor activityprotein bindinghypertensionautism spectrum disorderessential hypertensioncardiovascular disease
✦AI Summary

SOX7 is a transcription factor belonging to the SOX family that plays critical roles in developmental and pathological processes. During embryonic development, SOX7 regulates hematopoiesis, vasculogenesis, and cardiogenesis 1. It functions as a transcriptional activator of CDH5 and other endothelial genes, while repressing Wnt/β-catenin signaling by targeting β-catenin for degradation 2. SOX7 is essential for hemogenic endothelium specification and survival of hematopoietic and endothelial precursors 3. In cancer biology, SOX7 functions as a tumor suppressor. Its expression is frequently downregulated across multiple cancer types including prostate, colon, lung, breast, and bladder cancers, correlating with poor prognosis 1. SOX7 reduces cancer cell proliferation, migration, and invasion; in bladder cancer, it inhibits malignant progression via the DNMT3B/CYGB axis 4. In hematological malignancies, SOX7 loss-of-function through methylation-mediated silencing promotes tumorigenesis 5. Furthermore, SOX7 suppresses hepatic stellate cell activation and liver fibrosis by attenuating Wnt/β-catenin and TGF-β/Smad signaling 6. Clinically, SOX7 represents a promising therapeutic target for cancer and fibrotic diseases, though SOX7-mediated transcriptional mechanisms in disease contexts require further investigation 1.

Sources cited
1
SOX7 as a developmental regulator and tumor suppressor with downregulation in multiple cancer types correlating with poor prognosis
PMID: 24288056
2
SOX7 role in cardiovascular development through regulation of VEGF/Flk1, Wnt, and Notch signaling pathways
PMID: 24860989
3
SOX7 expression patterns in normal tissues and tumors, with upstream regulators including miRNAs and lncRNAs, and downstream effects on Wnt/β-catenin signaling
PMID: 31473269
4
SOX7 inhibits bladder cancer progression via transcriptional repression of DNMT3B and effects on CYGB methylation
PMID: 39227479
5
SOX7 as tumor suppressor in hematological malignancies through negative regulation of Wnt/β-catenin pathway; loss via gene methylation promotes carcinogenesis
PMID: 26913427
6
SOX7 suppresses hepatic stellate cell activation and liver fibrosis by decreasing β-catenin and TGF-β/Smad signaling
PMID: 39126242
Disease Associationsⓘ20
hypertensionOpen Targets
0.47Moderate
autism spectrum disorderOpen Targets
0.43Moderate
essential hypertensionOpen Targets
0.41Moderate
cardiovascular diseaseOpen Targets
0.37Weak
type 2 diabetes mellitusOpen Targets
0.37Weak
denturesOpen Targets
0.36Weak
Varicose veinsOpen Targets
0.32Weak
osteoarthritisOpen Targets
0.29Weak
aortic valve diseaseOpen Targets
0.22Weak
major depressive disorderOpen Targets
0.22Weak
attention deficit hyperactivity disorderOpen Targets
0.18Weak
liver diseaseOpen Targets
0.17Weak
risk-taking behaviourOpen Targets
0.15Weak
familial lipoprotein lipase deficiencyOpen Targets
0.15Weak
refractive errorOpen Targets
0.15Weak
acneOpen Targets
0.15Weak
coronary artery diseaseOpen Targets
0.15Weak
Abnormality of the skeletal systemOpen Targets
0.12Weak
metabolic syndromeOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CTNNB1Protein interaction100%MSRAProtein interaction86%RP1L1Protein interaction86%GATA4Protein interaction75%GATA6Protein interaction75%PPDPFLShared pathway25%
Tissue Expression6 tissues
Heart
100%
Lung
68%
Liver
23%
Brain
12%
Ovary
9%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
SOX7CTNNB1MSRARP1L1GATA4GATA6PPDPFL
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BT81
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.37LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.94 [0.65–1.37]
RankingsWhere SOX7 stands among ~20K protein-coding genes
  • #6,765of 20,598
    Most Researched70
  • #14,311of 17,882
    Most Constrained (LOEUF)1.37
Genes detectedSOX7
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human Genetics of Ventricular Septal Defect.
PMID: 38884729
Adv Exp Med Biol · 2024
1.00
2
The role of SOX family members in solid tumours and metastasis.
PMID: 30914279
Semin Cancer Biol · 2020
0.90
3
SOX7: from a developmental regulator to an emerging tumor suppressor.
PMID: 24288056
Histol Histopathol · 2014
0.80
4
SOX7 inhibits the malignant progression of bladder cancer via the DNMT3B/CYGB axis.
PMID: 39227479
Mol Biomed · 2024
0.70
5
Sox7 in vascular development: review, insights and potential mechanisms.
PMID: 24860989
Int J Dev Biol · 2014
0.60