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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SPAG16
sperm associated antigen 16
Chromosome 2 · 2q34
NCBI Gene: 79582Ensembl: ENSG00000144451.20HGNC: HGNC:23225UniProt: B4DYB5
26PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
axoneme assemblycilium assemblyaxonemal central apparatusaxonemehypopituitarismadolescent idiopathic scoliosispneumothoraxattention deficit hyperactivity disorder
✦AI Summary

SPAG16 encodes two protein isoforms with distinct functions in ciliary and flagellar biology. The 71-kDa SPAG16L localizes to the axonemal central apparatus of motile cilia and flagella 1, functioning as the mammalian ortholog of Chlamydomonas PF20 2. SPAG16L is essential for central pair assembly; loss of function causes male infertility with severe sperm motility defects 1. The 35-kDa SPAG16S isoform, expressed exclusively in male germ cells, localizes to nuclear speckles and regulates SPAG16L mRNA expression by modulating promoter activity 1. S-SOX5 transcription factor directly activates the SPAG16L promoter through multiple binding sites 3, suggesting coordinated regulation of axonemal protein genes. Beyond reproductive function, SPAG16 has emerged as a disease-relevant autoantigen. Anti-SPAG16 antibodies are detected in 21-22% of multiple sclerosis (MS) patients with 95% specificity 4, with SPAG16 upregulated in reactive astrocytes within MS lesions 4. In primary progressive MS, anti-SPAG16 seropositivity associates with increased disability severity and progression index 5. Additionally, SPAG16 genetic variants (rs7607479) correlate with radiographic progression in ACPA-positive rheumatoid arthritis, potentially through regulation of MMP-3 expression 6.

Sources cited
1
SPAG16L is the ortholog of Chlamydomonas PF20 central apparatus protein and heterozygous mutations reduce stability of central apparatus proteins
PMID: 17699735
2
SPAG16 encodes two isoforms: 71-kDa SPAG16L in motile cilia/flagella and 35-kDa SPAG16S in nuclear speckles; SPAG16S regulates SPAG16L mRNA expression; loss of SPAG16L causes male infertility
PMID: 21655194
3
Anti-SPAG16 antibodies detected in 21% of MS patients with 95% specificity; SPAG16 upregulated in reactive astrocytes in MS lesions; anti-SPAG16 antibodies exacerbate experimental autoimmune encephalomyelitis
PMID: 25086173
4
Anti-SPAG16 antibody seropositivity in MS associates with increased EDSS and higher progression index in primary progressive MS patients
PMID: 26706657
5
SPAG16 genetic variant rs7607479 associates with ACPA-positive rheumatoid arthritis susceptibility and correlates with tissue MMP-3 expression
PMID: 36434627
6
S-SOX5 transcription factor directly activates SPAG16L promoter through multiple binding sites to regulate motile cilia/flagella formation
PMID: 28137312
Disease Associationsⓘ20
hypopituitarismOpen Targets
0.31Weak
adolescent idiopathic scoliosisOpen Targets
0.30Weak
pneumothoraxOpen Targets
0.30Weak
attention deficit hyperactivity disorderOpen Targets
0.30Weak
pleural empyemaOpen Targets
0.28Weak
corneal ulcerOpen Targets
0.28Weak
Herpes ZosterOpen Targets
0.28Weak
nervous system diseaseOpen Targets
0.28Weak
nutritional deficiency diseaseOpen Targets
0.28Weak
ovarian neoplasmOpen Targets
0.28Weak
placenta praeviaOpen Targets
0.28Weak
respiratory tract infectious disorderOpen Targets
0.27Weak
autism spectrum disorderOpen Targets
0.25Weak
anorexia nervosaOpen Targets
0.25Weak
bipolar disorderOpen Targets
0.25Weak
major depressive disorderOpen Targets
0.25Weak
Benign Thyroid Gland NeoplasmOpen Targets
0.25Weak
chronic intestinal vascular insufficiencyOpen Targets
0.25Weak
diabetic ketoacidosisOpen Targets
0.25Weak
ocular hypotensionOpen Targets
0.25Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SPAG6Protein interaction99%MEIG1Protein interaction96%CPLANE2Shared pathway50%TTLL3Shared pathway50%HOATZShared pathway50%RSPH4AShared pathway50%
Tissue Expression6 tissues
Heart
100%
Brain
85%
Ovary
78%
Liver
43%
Bone Marrow
29%
Lung
19%
Gene Interaction Network
Click a node to explore
SPAG16SPAG6MEIG1CPLANE2TTLL3HOATZRSPH4A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q4G1A2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.26LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.97 [0.75–1.26]
RankingsWhere SPAG16 stands among ~20K protein-coding genes
  • #12,887of 20,598
    Most Researched26
  • #13,299of 17,882
    Most Constrained (LOEUF)1.26
Genes detectedSPAG16
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A heterozygous mutation disrupting the SPAG16 gene results in biochemical instability of central apparatus components of the human sperm axoneme.
PMID: 17699735
Biol Reprod · 2007
1.00
2
Sperm-associated antigen 16 is a novel target of the humoral autoimmune response in multiple sclerosis.
PMID: 25086173
J Immunol · 2014
0.90
3
Spag16, an axonemal central apparatus gene, encodes a male germ cell nuclear speckle protein that regulates SPAG16 mRNA expression.
PMID: 21655194
PLoS One · 2011
0.80
4
Biomarkers for radiographic progression in rheumatoid arthritis.
PMID: 25163742
Curr Pharm Des · 2015
0.70
5
Anti-SPAG16 antibodies in primary progressive multiple sclerosis are associated with an elevated progression index.
PMID: 26706657
Eur J Neurol · 2016
0.60