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.
SPANXB1
SPANX family member B1
Chromosome X · Xq27.1
NCBI Gene: 728695Ensembl: ENSG00000227234.2HGNC: HGNC:14329UniProt: Q9NS25
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnucleusspermatid developmentcytoplasmAbdominal painHeadacheLimb painidiopathic pulmonary fibrosis
✦AI Summary

SPANXB1 (SPANX family member B1) is a cancer/testis antigen that plays significant roles in cancer progression and metastasis. SPANXB1 is preferentially expressed in cancer stem-like cells and demonstrates restricted expression patterns, making it a promising therapeutic target 1. In breast cancer, SPANXB1 promotes aggressive metastatic behavior by facilitating cell invasion, migration, vasculogenic mimicry formation, and blood-brain barrier extravasation 2 3. Mechanistically, SPANXB1 enhances brain metastasis through chrX remodeling at the MMP1 promoter via histone H3R17me2 modification and transcription factor YY1 upregulation, leading to increased MMP1 expression 2. The protein is also upregulated in pediatric gliomas harboring H3.3K27M mutations, where it contributes to tumorigenesis alongside other cancer/testis antigens 4. In normal physiology, SPANXB1 appears involved in spermatogenesis, as its expression is altered in testosterone-deficient conditions affecting sperm protein composition 5. Clinically, SPANXB1 serves as both a prognostic biomarker and potential therapeutic target, with its expression traceable in circulating extracellular vesicles and associated with poor outcomes in triple-negative breast cancer 3. Notably, metformin can inhibit SPANXB1 expression, suggesting potential therapeutic applications 2.

Sources cited
1
SPANXB1 promotes breast cancer brain metastasis through MMP1 regulation via chromatin remodeling and can be inhibited by metformin
PMID: 40885703
2
SPANXB1 is preferentially expressed in cancer stem-like cells and belongs to cancer/testis/stem gene category
PMID: 23574628
3
SPANXB1 promotes triple-negative breast cancer metastasis and is detectable in circulating extracellular vesicles
PMID: 31406142
4
SPANXB1 is upregulated in pediatric gliomas with H3.3K27M mutations along with other cancer/testis antigens
PMID: 29453317
5
SPANXB1 expression is altered in testosterone-deficient conditions affecting spermatogenesis
PMID: 35663320
Disease Associationsⓘ20
Abdominal painOpen Targets
0.27Weak
HeadacheOpen Targets
0.27Weak
Limb painOpen Targets
0.27Weak
idiopathic pulmonary fibrosisOpen Targets
0.18Weak
breast cancerOpen Targets
0.08Suggestive
triple-negative breast cancerOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.05Suggestive
ovarian cancerOpen Targets
0.03Suggestive
multiple myelomaOpen Targets
0.02Suggestive
systemic lupus erythematosusOpen Targets
0.02Suggestive
infectionOpen Targets
0.01Suggestive
lobular neoplasiaOpen Targets
0.01Suggestive
microphthalmia with limb anomaliesOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
hematopoietic and lymphoid cell neoplasmOpen Targets
0.01Suggestive
B-cell non-Hodgkins lymphomaOpen Targets
0.01Suggestive
Abnormal sperm morphologyOpen Targets
0.01Suggestive
chronic kidney diseaseOpen Targets
0.01Suggestive
melanomaOpen Targets
0.01Suggestive
venous thromboembolismOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FNDC3AShared pathway100%OSBP2Shared pathway100%IQCNShared pathway100%TSSK1BShared pathway100%ZMYND15Shared pathway100%CCDC159Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
100%
Ovary
0%
Lung
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
SPANXB1FNDC3AOSBP2IQCNTSSK1BZMYND15CCDC159
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NS25
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
2.34LoF Tolerant
pLIⓘ
0.26Tolerant
Observed/Expected LoF0.49 [0.18–2.34]
RankingsWhere SPANXB1 stands among ~20K protein-coding genes
  • #13,748of 20,598
    Most Researched22
  • #17,853of 17,882
    Most Constrained (LOEUF)2.34
Genes detectedSPANXB1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
SPANXB1 drives brain metastasis in breast cancer via MMP1 regulation: potential therapeutic insights with metformin.
PMID: 40885703
Cell Death Discov · 2025
1.00
2
Histone H3.3K27M Mobilizes Multiple Cancer/Testis (CT) Antigens in Pediatric Glioma.
PMID: 29453317
Mol Cancer Res · 2018
0.90
3
Screening and Identification of Novel Potential Biomarkers for Breast Cancer Brain Metastases.
PMID: 35096583
Front Oncol · 2021
0.80
4
The Role of Testosterone in Spermatogenesis: Lessons From Proteome Profiling of Human Spermatozoa in Testosterone Deficiency.
PMID: 35663320
Front Endocrinol (Lausanne) · 2022
0.70
5
Cancer Testis Antigen Promotes Triple Negative Breast Cancer Metastasis and is Traceable in the Circulating Extracellular Vesicles.
PMID: 31406142
Sci Rep · 2019
0.60