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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SPAG4
sperm associated antigen 4
Chromosome 20 · 20q11.22
NCBI Gene: 6676Ensembl: ENSG00000061656.11HGNC: HGNC:11214UniProt: A0A7P0Z4G5
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein-membrane adaptor activitymeiotic nuclear membrane microtubule tethering complexnuclear envelopemetabolic syndromemelanomaBack painAbnormality of refraction
✦AI Summary

SPAG4 (Sperm Associated Antigen 4) is a protein primarily involved in spermatogenesis and male fertility, with emerging roles in cancer biology. In its physiological function, SPAG4 is required for sperm head formation and anchoring of the manchette, specifically interacting with outer dense fiber protein ODF27 in elongating spermatids 1. The protein localizes to the inner nuclear membrane in spermatids and may play independent roles at the centriole-nucleus contact site 2. Beyond reproduction, SPAG4 has gained attention as an oncogene across multiple cancer types. In glioblastoma, SPAG4 overexpression correlates with poor prognosis and promotes cell proliferation and migration through MEK/ERK signaling pathway activation 3. Similarly, in colorectal cancer, SPAG4 enhances mitochondrial respiration and aerobic glycolysis by activating PI3K/Akt signaling 4. SPAG4 expression is regulated by hypoxia through HIF-1 in a VHL-dependent manner 5 and shows ERN1-dependent regulation under hypoxic conditions in glioblastoma cells 6. The protein has been identified as a potential therapeutic target and biomarker, particularly in glioblastoma where it may contribute to immune evasion by increasing CD47 expression 7.

Sources cited
1
SPAG4 interacts with outer dense fiber protein ODF27 in elongating spermatids and maps to chromosome 20q11.2
PMID: 9691178
2
SPAG4 localizes to the inner nuclear membrane in spermatids and plays roles at the centriole-nucleus contact site
PMID: 41347334
3
SPAG4 overexpression in glioblastoma correlates with poor prognosis and promotes proliferation/migration via MEK/ERK signaling
PMID: 30817682
4
SPAG4 enhances mitochondrial respiration and aerobic glycolysis in colorectal cancer through PI3K/Akt pathway activation
PMID: 39410830
5
SPAG4 expression is regulated by hypoxia through HIF-1 in a VHL-dependent manner
PMID: 23818324
6
SPAG4 shows ERN1-dependent regulation under hypoxic conditions in glioblastoma cells
PMID: 38563293
7
SPAG4 identified as potential therapeutic target in glioblastoma and may contribute to immune evasion by increasing CD47 expression
PMID: 39539547
Disease Associationsⓘ20
metabolic syndromeOpen Targets
0.16Weak
melanomaOpen Targets
0.15Weak
Back painOpen Targets
0.12Weak
Abnormality of refractionOpen Targets
0.11Weak
azoospermiaOpen Targets
0.11Weak
spermatogenic failure 78Open Targets
0.09Suggestive
partial chromosome Y deletionOpen Targets
0.09Suggestive
spermatogenic failure 54Open Targets
0.08Suggestive
spermatogenic failure 20Open Targets
0.08Suggestive
spermatogenic failure 39Open Targets
0.08Suggestive
spermatogenic failure 86Open Targets
0.08Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.08Suggestive
spermatogenic failure, X-linked, 8Open Targets
0.08Suggestive
spermatogenic failure 40Open Targets
0.08Suggestive
spermatogenic failure 10Open Targets
0.08Suggestive
spermatogenic failure 11Open Targets
0.08Suggestive
Abnormality of the skeletal systemOpen Targets
0.08Suggestive
Male infertility due to large-headed multiflagellar polyploid spermatozoaOpen Targets
0.08Suggestive
spermatogenic failure 5Open Targets
0.08Suggestive
spermatogenic failure 41Open Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SPMIP7Shared pathway100%CBY3Shared pathway100%ARRDC5Shared pathway100%C3orf62Shared pathway100%TXNDC8Shared pathway100%TDRPShared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
92%
Liver
32%
Lung
29%
Heart
28%
Brain
12%
Gene Interaction Network
Click a node to explore
SPAG4SPMIP7CBY3ARRDC5C3orf62TXNDC8TDRP
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9NPE6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.28LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.02 [0.83–1.28]
RankingsWhere SPAG4 stands among ~20K protein-coding genes
  • #14,552of 20,598
    Most Researched19
  • #13,493of 17,882
    Most Constrained (LOEUF)1.28
Genes detectedSPAG4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Transcriptomic analysis reveals the potential crosstalk genes and immune relationship between IgA nephropathy and periodontitis.
PMID: 36793719
Front Immunol · 2023
1.00
2
Integrated multi-level omics profiling of disulfidptosis identifis SPAG4 as an innovative immunotherapeutic target in glioblastoma.
PMID: 39539547
Front Immunol · 2024
0.90
3
Visualizing Drosophila centrioles by expansion microscopy.
PMID: 41347334
J Cell Sci · 2026
0.80
4
A novel testis-specific gene, SPAG4, whose product interacts specifically with outer dense fiber protein ODF27, maps to human chromosome 20q11.2.
PMID: 9691178
Cytogenet Cell Genet · 1998
0.70
5
SPAG4 enhances mitochondrial respiration and aerobic glycolysis in colorectal cancer cells by activating the PI3K/Akt signaling pathway.
PMID: 39410830
J Biochem Mol Toxicol · 2024
0.60