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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SEPTIN12
septin 12
Chromosome 16 · 16p13.3
NCBI Gene: 124404Ensembl: ENSG00000140623.14HGNC: HGNC:26348UniProt: A0A140VJU2
34PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein homodimerization activityprotein bindingseptin ring assemblymicrotubule cytoskeletonspermatogenic failure 10non-syndromic male infertility due to sperm motility disorderazoospermiaspermatogenic failure 65
✦AI Summary

SEPTIN12 is a testis-enriched, filament-forming cytoskeletal GTPase essential for male fertility. Functionally, SEPTIN12 serves as a critical structural component during spermiogenesis, interacting with α- and β-tubulins to coordinate sperm head morphogenesis and tail elongation 1. SEPTIN12 forms octameric filamentous complexes with SEPTIN7, SEPTIN6, and SEPTIN2 at the sperm annulus, a septin-based ring structure required for sperm tail structural integrity and motility 2. At the sperm head-tail junction, SEPTIN12 interacts with nuclear membrane protein SUN5 and LaminB1, anchoring the proximal centriole to the nucleus and maintaining the critical head-to-tail connection 3. SEPTIN12 expression is hormonally regulated via androgen and estrogen receptor binding sites in its promoter, responding to 17β-estradiol and 5α-dihydrotestosterone 4. Post-translationally, SEPTIN12 phosphorylation at Ser198 by Protein Kinase A negatively regulates its polymerization, with phosphomimetic mutations causing impaired sperm motility and annulus loss 2. CDC42 also negatively modulates SEPTIN12 polymerization during sperm head terminal differentiation 5. Clinically, SEPTIN12 mutations and polymorphisms associate with male infertility phenotypes including teratozoospermia, oligozoospermia, immotile sperm, and Sertoli cell-only syndrome 6, 7. Truncated SEPTIN12 variants inhibit filament formation and cause bent-tail sperm with nuclear DNA damage 6. SEPTIN12 is classified as having limited evidence for male infertility causation 8.

Sources cited
1
SEPTIN12 interacts with α- and β-tubulins and is required for sperm head morphogenesis and tail elongation during spermiogenesis
PMID: 24213608
2
SEPTIN12 forms octameric filaments at the sperm annulus; phosphorylation at Ser198 by PKA negatively regulates polymerization and is crucial for sperm physiology
PMID: 30160375
3
SEPTIN12 interacts with SUN5 and connects the proximal centriole to the nucleus at the sperm head-tail junction
PMID: 38870534
4
SEPTIN12 expression is regulated by androgen and estrogen receptors via hormone-responsive elements in its promoter
PMID: 30513371
5
CDC42 negatively regulates SEPTIN12 polymerization and is involved in sperm head structure formation
PMID: 30189608
6
SEPTIN12 genetic variants cause teratozoospermia; truncated variants inhibit filament formation and result in bent-tail sperm with DNA damage
PMID: 22479503
7
SEPTIN12 polymorphisms are associated with Sertoli cell-only syndrome and azoospermia in male infertility
PMID: 21636737
8
SEPTIN12 is classified with limited evidence for male infertility causation in updated diagnostic gene panels
PMID: 38664359
Disease Associationsⓘ21
spermatogenic failure 10Open Targets
0.59Moderate
non-syndromic male infertility due to sperm motility disorderOpen Targets
0.40Weak
azoospermiaOpen Targets
0.11Weak
spermatogenic failure 65Open Targets
0.10Suggestive
spermatogenic failure 84Open Targets
0.10Suggestive
spermatogenic failure 93Open Targets
0.10Suggestive
spermatogenic failure 56Open Targets
0.10Suggestive
spermatogenic failure 92Open Targets
0.10Suggestive
spermatogenic failure 94Open Targets
0.10Suggestive
spermatogenic failure 54Open Targets
0.10Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.09Suggestive
spermatogenic failure 72Open Targets
0.09Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.09Suggestive
spermatogenic failure 39Open Targets
0.09Suggestive
spermatogenic failure 58Open Targets
0.09Suggestive
spermatogenic failure 18Open Targets
0.09Suggestive
spermatogenic failure 27Open Targets
0.09Suggestive
spermatogenic failure 46Open Targets
0.09Suggestive
spermatogenic failure 40Open Targets
0.09Suggestive
spermatogenic failure 91Open Targets
0.09Suggestive
Spermatogenic failure 10UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SEPTIN7Protein interaction99%SEPTIN2Protein interaction99%SQSTM1Protein interaction90%SEPTIN11Protein interaction77%SEPTIN10Protein interaction74%SEPTIN6Protein interaction73%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
19%
Ovary
9%
Liver
9%
Lung
3%
Heart
0%
Gene Interaction Network
Click a node to explore
SEPTIN12SEPTIN7SEPTIN2SQSTM1SEPTIN11SEPTIN10SEPTIN6
PROTEIN STRUCTURE
Preparing viewer…
PDB6MQ9 · 1.86 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.56LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.20 [0.93–1.56]
RankingsWhere SEPTIN12 stands among ~20K protein-coding genes
  • #11,234of 20,598
    Most Researched34
  • #15,488of 17,882
    Most Constrained (LOEUF)1.56
Genes detectedSEPTIN12
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
SUN5 interacts with nuclear membrane LaminB1 and cytoskeletal GTPase Septin12 mediating the sperm head-and-tail junction.
PMID: 38870534
Mol Hum Reprod · 2024
1.00
2
Identification of SEPTIN12 as a novel target of the androgen and estrogen receptors in human testicular cells.
PMID: 30513371
Biochimie · 2019
0.90
3
CDC42 Negatively Regulates Testis-Specific SEPT12 Polymerization.
PMID: 30189608
Int J Mol Sci · 2018
0.80
4
SEPT12-microtubule complexes are required for sperm head and tail formation.
PMID: 24213608
Int J Mol Sci · 2013
0.70
5
Evaluation of an Updated Gene Panel as a Diagnostic Tool for Both Male and Female Infertility.
PMID: 38664359
Reprod Sci · 2024
0.60