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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SPAG8
sperm associated antigen 8
Chromosome 9 · 9p13.3
NCBI Gene: 26206Ensembl: ENSG00000137098.15HGNC: HGNC:14105UniProt: A0A140VJV0
25PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ciliumaxonemal microtubuleprotein bindingsperm flagellumacromesomelic dysplasia 1, Maroteaux typeTall stature - scoliosis - macrodactyly of the great toestall stature-scoliosis-macrodactyly of the great toes syndromeshort stature with nonspecific skeletal abnormalities
✦AI Summary

SPAG8 (sperm-associated antigen 8) is a testis-specific protein with multiple functional roles in reproductive biology and cell cycle regulation. As a microtubule inner protein component of dynein-decorated doublet microtubules in the ciliary axoneme, SPAG8 is essential for motile cilia beating 1. During spermatogenesis, SPAG8 functions as a novel regulator of the CREM-ACT transcriptional complex, enhancing ACT binding to CREMtau and thereby promoting transcriptional activation of genes critical for germ cell differentiation 2. SPAG8 also regulates cell cycle progression by prolonging the G2/M phase through modulation of cdc2 (CDK1) phosphorylation at Tyr15, potentially delaying mitotic entry during spermatogenesis 3. Clinically, SPAG8 variants and expression levels are associated with nonobstructive azoospermia (male infertility) 4. Additionally, SPAG8 has emerged as a cancer-testis antigen with elevated expression in various tumors (10-70% frequency) and elicits spontaneous humoral immune responses in cancer patients, positioning it as a potential immunotherapeutic target and serologic biomarker 5. These diverse functions underscore SPAG8's importance in both normal reproductive physiology and disease pathogenesis.

Sources cited
1
SPAG8 is a microtubule inner protein required for motile cilia beating in the axoneme
PMID: 36191189
2
SPAG8 enhances ACT-mediated CREMtau transcriptional activation by strengthening ACT binding during spermatogenesis
PMID: 20488182
3
SPAG8 prolongs G2/M phase and regulates cell cycle by modulating cdc2/CDK1 phosphorylation
PMID: 19548270
4
SPAG8 variants and CREM polymorphisms are associated with nonobstructive azoospermia susceptibility in Chinese populations
PMID: 24943041
5
SPAG8 is a cancer-testis antigen with elevated expression in tumors and induces spontaneous humoral immune responses in cancer patients
PMID: 21150711
Disease Associationsⓘ20
acromesomelic dysplasia 1, Maroteaux typeOpen Targets
0.54Moderate
Tall stature - scoliosis - macrodactyly of the great toesOpen Targets
0.53Moderate
tall stature-scoliosis-macrodactyly of the great toes syndromeOpen Targets
0.53Moderate
short stature with nonspecific skeletal abnormalitiesOpen Targets
0.41Moderate
familial focal epilepsy with variable fociOpen Targets
0.37Weak
genetic disorderOpen Targets
0.18Weak
cardiac anomalies - developmental delay - facial dysmorphism syndromeOpen Targets
0.12Weak
SepsisOpen Targets
0.06Suggestive
acute respiratory distress syndromeOpen Targets
0.03Suggestive
amyotrophic lateral sclerosisOpen Targets
0.03Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
osteosarcomaOpen Targets
0.02Suggestive
frontotemporal dementiaOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
psoriasisOpen Targets
0.01Suggestive
tetrasomy 12pOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
infertilityOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SPEM3Shared pathway100%TEKTIP1Shared pathway100%CFAP144Shared pathway100%CIMIP2AShared pathway100%SPMIP10Shared pathway100%CFAP141Shared pathway100%
Tissue Expression6 tissues
Ovary
100%
Heart
76%
Lung
41%
Bone Marrow
40%
Brain
26%
Liver
19%
Gene Interaction Network
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SPAG8SPEM3TEKTIP1CFAP144CIMIP2ASPMIP10CFAP141
PROTEIN STRUCTURE
Preparing viewer…
PDB7UNG · 3.60 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.04LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.80 [0.61–1.04]
RankingsWhere SPAG8 stands among ~20K protein-coding genes
  • #13,082of 20,598
    Most Researched25
  • #10,390of 17,882
    Most Constrained (LOEUF)1.04
Genes detectedSPAG8
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
CREM variants rs4934540 and rs2295415 conferred susceptibility to nonobstructive azoospermia risk in the Chinese population.
PMID: 24943041
Biol Reprod · 2014
1.00
2
Sperm associated antigen 8 (SPAG8), a novel regulator of activator of CREM in testis during spermatogenesis.
PMID: 20488182
FEBS Lett · 2010
0.90
3
Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis.
PMID: 22343411
Hum Mol Genet · 2012
0.80
4
Sperm-associated antigens as targets for cancer immunotherapy: expression pattern and humoral immune response in cancer patients.
PMID: 21150711
J Immunother · 2011
0.70
5
Differentially expressed genes between high-risk human papillomavirus types in human cervical cancer cells.
PMID: 17309674
Int J Gynecol Cancer · 2007
0.60