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GeneE
1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SPACA5
sperm acrosome associated 5
Chromosome X Β· Xp11.23
NCBI Gene: 389852Ensembl: ENSG00000171478.8HGNC: HGNC:19142UniProt: Q96QH8
3PubMed Papers
2Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
lysozyme activityfusion of sperm to egg plasma membrane involved in single fertilizationacrosomal vesiclesperm flagellumneurodegenerative diseasetarsal-carpal coalition syndrome
✦AI Summary

Based on limited published evidence, SPACA5 is an X-linked gene encoding a sperm acrosome-associated protein with annotated roles in acrosomal vesicle organization, sperm-egg fusion during fertilization, and lysozyme activity. The gene localizes to the sperm flagellum. A 335.4 kb microduplication encompassing SPACA5 on chromosome X.2p11.3 was identified in a patient with developmental delay, autistic features, and growth retardation 1, though the pathogenic contribution of SPACA5 overexpression remains unclear as the primary candidate gene in this region is ZNF81.

Sources cited
1
SPACA5 microduplication on Xp11.2p11.3 identified in patient with developmental delay and autistic features; gene's role in disease etiology unclear relative to ZNF81
PMID: 22634100
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜2
neurodegenerative diseaseOpen Targets
0.30Weak
tarsal-carpal coalition syndromeOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
CRISP1Shared pathway100%GLIPR1L1Shared pathway100%TMEM95Shared pathway100%DCST2Shared pathway50%SPACA6Shared pathway50%SERPINA5Shared pathway50%
Tissue Expression4 tissues
Liver
0%
Ovary
0%
Lung
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SPACA5CRISP1GLIPR1L1TMEM95DCST2SPACA6SERPINA5
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q96QH8
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.15LoF Tolerant
pLIβ“˜
0.52Intermediate
Observed/Expected LoF0.24 [0.09–1.15]
RankingsWhere SPACA5 stands among ~20K protein-coding genes
  • #19,026of 20,598
    Most Researched3
  • #12,041of 17,882
    Most Constrained (LOEUF)1.15
Genes detectedSPACA5
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
335.4 kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features.
PMID: 22634100
Gene Β· 2012
1.00