HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ACTL9
actin like 9
Chromosome 19 · 19p13.2
NCBI Gene: 284382Ensembl: ENSG00000181786.6HGNC: HGNC:28494UniProt: Q8TC94
9PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
acrosomal vesicleperinuclear thecaacrosome assemblysperm headspermatogenic failure 53atopic eczemachildhood onset asthmanon-syndromic male infertility due to sperm motility disorder
✦AI Summary

ACTL9 (actin like 9) is a testis-specific protein essential for male fertility, primarily functioning in spermatogenesis and fertilization. Mechanistically, ACTL9 plays a critical role in organizing the perinuclear theca (PT), a cytoskeletal structure in the sperm head that properly positions phospholipase C zeta (PLCζ) 1. This correct localization of PLCζ is essential for triggering normal calcium oscillations in oocytes during fertilization 1. ACTL9 mutations cause spermatogenic failure 53, characterized by abnormal sperm morphology including coiled flagella, thickened midpieces, and irregular mitochondrial sheath arrangements, resulting in reduced sperm motility 2. At the ultrastructural level, ACTL9 mutations disrupt the '9+2' microtubular organization in flagella 2. Clinically, homozygous ACTL9 variants cause total fertilization failure (TFF) even after intracytoplasmic sperm injection (ICSI), occurring in approximately 3.70% of male patients with post-ICSI fertilization failure 3. However, assisted oocyte activation (AOA) using ionomycin or calcium ionophore successfully overcomes TFF in ACTL9 mutation carriers, enabling successful pregnancy and live births 13. These findings establish ACTL9 as a critical genetic marker for diagnosing unexplained fertilization failure and identifying candidates for AOA therapy.

Sources cited
1
ACTL9 mutations cause abnormal perinuclear theca ultrastructure and abnormal PLCζ localization, leading to failed calcium oscillations and total fertilization failure; AOA overcomes this defect
PMID: 33626338
2
ACTL9 mutations cause irregular mitochondrial sheath arrangement, coiled flagella, thickened midpiece, and abnormal '9+2' microtubular structures with reduced sperm motility
PMID: 38963606
3
ACTL9 variants occur in 3.70% of male patients with post-ICSI fertilization failure; AOA with ionomycin significantly increases fertilization and live birth rates in ACTL9 variant carriers
PMID: 39411542
4
ACTL9 mutations cause fertilization failure; ICSI may fail in ACTL9 defects, but artificial oocyte activation with ICSI can improve fertilization rates
PMID: 37758324
5
ACTL9 mutations are among important genes involved in human fertilization failure with Mendelian inheritance patterns
PMID: 36589837
6
ACTL9 is among sperm proteins with deregulated abundance involved in flagellar assembly, sperm motility, and male infertility
PMID: 36896575
Disease Associationsⓘ21
spermatogenic failure 53Open Targets
0.66Moderate
atopic eczemaOpen Targets
0.43Moderate
childhood onset asthmaOpen Targets
0.39Weak
non-syndromic male infertility due to sperm motility disorderOpen Targets
0.37Weak
familial hypercholesterolemiaOpen Targets
0.33Weak
azoospermiaOpen Targets
0.10Weak
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure, X-linked, 7Open Targets
0.07Suggestive
spermatogenic failure 20Open Targets
0.07Suggestive
spermatogenic failure 6Open Targets
0.07Suggestive
spermatogenic failure 78Open Targets
0.07Suggestive
spermatogenic failure 85Open Targets
0.07Suggestive
male infertility due to globozoospermiaOpen Targets
0.07Suggestive
spermatogenic failure 66Open Targets
0.07Suggestive
spermatogenic failure 67Open Targets
0.07Suggestive
spermatogenic failure 68Open Targets
0.07Suggestive
spermatogenic failure 69Open Targets
0.07Suggestive
spermatogenic failure 72Open Targets
0.06Suggestive
spermatogenic failure 18Open Targets
0.06Suggestive
spermatogenic failure 27Open Targets
0.06Suggestive
Spermatogenic failure 53UniProt
Pathogenic Variants3
NM_178525.5(ACTL9):c.1034C>T (p.Ser345Leu)Pathogenic
Spermatogenic failure 53
☆☆☆☆2021→ Residue 345
NM_178525.5(ACTL9):c.1138G>T (p.Val380Leu)Pathogenic
Spermatogenic failure 53
☆☆☆☆2021→ Residue 380
NM_178525.5(ACTL9):c.1209C>G (p.Tyr403Ter)Pathogenic
Spermatogenic failure 53
☆☆☆☆2021→ Residue 403
View on ClinVar ↗
Related Genes
DCTN2Protein interaction74%ACTR10Protein interaction74%ACTL7AShared pathway53%ACRBPShared pathway50%CYLC1Shared pathway50%SPACA1Shared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
0%
Heart
0%
Liver
0%
Brain
0%
Lung
0%
Gene Interaction Network
Click a node to explore
ACTL9DCTN2ACTR10ACTL7AACRBPCYLC1SPACA1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8TC94
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.57LoF Tolerant
pLIⓘ
0.19Tolerant
Observed/Expected LoF0.54 [0.22–1.57]
RankingsWhere ACTL9 stands among ~20K protein-coding genes
  • #17,256of 20,598
    Most Researched9
  • #4,171of 5,498
    Most Pathogenic Variants3
  • #15,555of 17,882
    Most Constrained (LOEUF)1.57
Genes detectedACTL9
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic mechanisms of fertilization failure and early embryonic arrest: a comprehensive review.
PMID: 37758324
Hum Reprod Update · 2024
1.00
2
Homozygous ACTL9 mutations cause irregular mitochondrial sheath arrangement and abnormal flagellum assembly in spermatozoa and male infertility.
PMID: 38963606
J Assist Reprod Genet · 2024
0.90
3
High rate of detected variants in male
PMID: 39411542
Hum Reprod Open · 2024
0.80
4
Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and mice.
PMID: 33626338
Am J Hum Genet · 2021
0.70
5
Gene mutations associated with fertilization failure after
PMID: 36589837
Front Endocrinol (Lausanne) · 2022
0.60