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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SPAG9
sperm associated antigen 9
Chromosome 17 · 17q21.33
NCBI Gene: 9043Ensembl: ENSG00000008294.23HGNC: HGNC:14524UniProt: O60271
142PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
retrograde transport, endosome to Golgiprotein bindingpositive regulation of cell migrationlysosome localizationneurodegenerative diseaseshoulder impingement syndromemarfanoid habitus and intellectual disabilityneoplasm
✦AI Summary

SPAG9 (sperm-associated antigen 9) is a multifunctional scaffold protein with roles spanning reproductive biology, intracellular signaling, and cancer progression. As a member of the JNK-interacting protein (JIP) family, SPAG9 acts as a scaffold protein that mediates JNK signaling by aggregating MAPK cascade components 1. Beyond signaling, SPAG9 regulates lysosomal positioning by linking PIP4P1-positive lysosomes to the dynein-dynactin complex 2. In reproduction, SPAG9 localizes to the sperm acrosome and undergoes stage-specific relocation during the acrosome reaction, playing a key role in sperm-egg interaction and binding 3. The protein is highly conserved across primates, showing 84.9-96.8% sequence homology 4. Clinically, SPAG9 demonstrates contrasting roles depending on cancer type. It is overexpressed in prostate cancer, astrocytoma, and osteosarcoma, where it promotes cell proliferation, invasion, and angiogenesis through MMP-2/9 regulation and VEGF signaling 5678. Conversely, in clear-cell renal cell carcinoma, SPAG9 expression correlates with favorable prognosis, potentially through autophagy promotion and inflammatory suppression 9. Recently, biallelic SPAG9 mutations were identified in a novel human syndrome featuring coarse facial features, albinism, cataracts, and developmental delay, highlighting its multisystemic importance 10.

Sources cited
1
As a member of the JNK-interacting protein (JIP) family, SPAG9 acts as a scaffold protein that mediates JNK signaling by aggregating MAPK cascade components .
PMID: 14743216
2
Beyond signaling, SPAG9 regulates lysosomal positioning by linking PIP4P1-positive lysosomes to the dynein-dynactin complex .
PMID: 29146937
3
In reproduction, SPAG9 localizes to the sperm acrosome and undergoes stage-specific relocation during the acrosome reaction, playing a key role in sperm-egg interaction and binding .
PMID: 16143403
4
The protein is highly conserved across primates, showing 84.9-96.8% sequence homology .
PMID: 15736136
5
Conversely, in clear-cell renal cell carcinoma, SPAG9 expression correlates with favorable prognosis, potentially through autophagy promotion and inflammatory suppression .
PMID: 37107702
6
Recently, biallelic SPAG9 mutations were identified in a novel human syndrome featuring coarse facial features, albinism, cataracts, and developmental delay, highlighting its multisystemic importance .
PMID: 39846792
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.50Moderate
shoulder impingement syndromeOpen Targets
0.24Weak
marfanoid habitus and intellectual disabilityOpen Targets
0.12Weak
neoplasmOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
azoospermiaOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.08Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.08Suggestive
renal fibrosisOpen Targets
0.08Suggestive
spermatogenic failure 7Open Targets
0.08Suggestive
lung cancerOpen Targets
0.08Suggestive
spermatogenic failure 58Open Targets
0.08Suggestive
posterior cortical atrophyOpen Targets
0.08Suggestive
spermatogenic failure 79Open Targets
0.08Suggestive
spermatogenic failure 56Open Targets
0.08Suggestive
spermatogenic failure 92Open Targets
0.08Suggestive
spermatogenic failure 94Open Targets
0.08Suggestive
spermatogenic failure 84Open Targets
0.07Suggestive
spermatogenic failure 93Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ARF6Protein interaction100%JUNProtein interaction99%PIP4P1Protein interaction98%MAPK8Protein interaction96%HYAL3Protein interaction89%SPAM1Protein interaction89%
Tissue Expression6 tissues
Brain
100%
Lung
61%
Ovary
54%
Heart
47%
Bone Marrow
44%
Liver
31%
Gene Interaction Network
Click a node to explore
SPAG9ARF6JUNPIP4P1MAPK8HYAL3SPAM1
PROTEIN STRUCTURE
Preparing viewer…
PDB2W83 · 1.93 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.26Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.18 [0.13–0.26]
RankingsWhere SPAG9 stands among ~20K protein-coding genes
  • #3,237of 20,598
    Most Researched142 · top quartile
  • #854of 17,882
    Most Constrained (LOEUF)0.26 · top 5%
Genes detectedSPAG9
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Immunogenicity and contraceptive potential of recombinant human sperm associated antigen (SPAG9).
PMID: 16143403
J Reprod Immunol · 2005
1.00
2
Truncated SPAG9 as a novel candidate gene for a new syndrome: Coarse facial features, albinism, cataract and developmental delay (CACD syndrome).
PMID: 39846792
Genet Mol Biol · 2025
0.90
3
SPAG9 is overexpressed in human prostate cancer and promotes cancer cell proliferation.
PMID: 24740566
Tumour Biol · 2014
0.80
4
SPAG9 controls the cell motility, invasion and angiogenesis of human osteosarcoma cells.
PMID: 26893659
Exp Ther Med · 2016
0.70
5
Molecular cloning and characterization of the macaque sperm associated antigen 9 (SPAG9): an orthologue of human SPAG9 gene.
PMID: 15736136
Mol Reprod Dev · 2005
0.60