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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ASTL
astacin like metalloendopeptidase
Chromosome 2 · 2q11.2
NCBI Gene: 431705Ensembl: ENSG00000188886.5HGNC: HGNC:31704UniProt: Q6HA08
15PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Protease
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmetalloendopeptidase activitynegative regulation of binding of sperm to zona pellucidaGO:0005615oocyte maturation defect 11diabetes mellitusmalunion fractureAbnormality of the skeletal system
✦AI Summary

ASTL (astacin-like metalloendopeptidase) encodes ovastacin, a zinc metalloprotease with primary function in fertilization and polyspermy prevention 1. Upon sperm-egg fusion, ovastacin is released during cortical granule exocytosis and cleaves ZP2, a zona pellucida glycoprotein, preventing additional sperm binding and causing zona pellucida hardening 1. This cleavage is essential for early embryonic development and normal fertilization 2. The enzyme's activity is tightly regulated: unfertilized oocytes release small amounts of inactive ovastacin, bound by its inhibitor Fetuin-B (FETUB) 1, and premature ASTL activity without FETUB inhibition causes infertility 3. Bi-allelic ASTL variants cause female infertility through impaired polyspermy blocking. Frameshift mutations significantly reduce ASTL protein quantity, while missense variants impair enzymatic activity in cleaving ZP2 4. Pathogenic variants disrupt the catalytic domain and critical interaction sites with ZP2 and FETUB 1. Clinical manifestations include abnormal fertilization, oocyte maturation defects, and polyspermy in vitro 5. Affected individuals exhibit subfertility due to reduced embryonic developmental potential 4. Notably, intracytoplasmic sperm injection with assisted oocyte activation successfully bypasses polyspermy defects and enables live birth 56. ASTL mutations should be included in female infertility diagnostic panels 2.

Sources cited
1
ASTL encodes ovastacin, a zinc metalloprotease released during cortical granule exocytosis that cleaves ZP2 to prevent polyspermy and cause zona pellucida hardening
PMID: 37363721
2
ASTL mutations cause female infertility with markedly reduced fertility, similar to Astl-/- mice, through defective zona pellucida hardening
PMID: 34704130
3
Fetuin-B inhibits ovastacin activity; its absence causes premature zona pellucida hardening and infertility, while double-deficient Fetub-/-/Astl-/- mice restore fertility
PMID: 27733488
4
Bi-allelic ASTL frameshift variants reduce protein quantity and missense variants impair enzymatic activity for ZP2 cleavage, causing female infertility
PMID: 37133443
5
Novel ASTL variants cause abnormal fertilization and polyspermy; ICSI-assisted oocyte activation rescues the phenotype and enables live birth
PMID: 40830301
6
ASTL variants located in the catalytic domain disrupt hydrogen bonds and impair ovastacin activation or stability, causing polyspermy; intracytoplasmic sperm injection treatment successfully results in live birth
PMID: 37640117
Disease Associationsⓘ21
oocyte maturation defect 11Open Targets
0.39Weak
diabetes mellitusOpen Targets
0.33Weak
malunion fractureOpen Targets
0.31Weak
Abnormality of the skeletal systemOpen Targets
0.16Weak
neoplasmOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
Female infertility due to fertilization defectOpen Targets
0.08Suggestive
obesityOpen Targets
0.07Suggestive
Malignant Pancreatic NeoplasmOpen Targets
0.07Suggestive
oocyte maturation defect 14Open Targets
0.07Suggestive
oocyte maturation defect 5Open Targets
0.07Suggestive
female infertility due to oocyte meiotic arrestOpen Targets
0.07Suggestive
premature ovarian failure 19Open Targets
0.06Suggestive
invasive hydatidiform moleOpen Targets
0.06Suggestive
female infertility due to zona pellucida defectOpen Targets
0.06Suggestive
oocyte maturation defect 3Open Targets
0.06Suggestive
oocyte maturation defect 6Open Targets
0.06Suggestive
oocyte maturation defect 7Open Targets
0.06Suggestive
oocyte/zygote/embryo maturation arrest 19Open Targets
0.06Suggestive
Rare genetic female infertilityOpen Targets
0.06Suggestive
Oocyte/zygote/embryo maturation arrest 11UniProt
Pathogenic Variants1
NM_001002036.4(ASTL):c.456-1G>APathogenic
Oocyte maturation defect 11
☆☆☆☆2025
View on ClinVar ↗
Related Genes
ZP2Protein interaction78%TIMP1Protein interaction73%FETUBProtein interaction70%OVCH1Shared pathway40%OVCH2Shared pathway40%LMLNShared pathway40%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
5%
Ovary
2%
Liver
0%
Brain
0%
Heart
0%
Gene Interaction Network
Click a node to explore
ASTLZP2TIMP1FETUBOVCH1OVCH2LMLN
PROTEIN STRUCTURE
Preparing viewer…
PDB7ST8 · 2.75 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.02LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.74 [0.54–1.02]
RankingsWhere ASTL stands among ~20K protein-coding genes
  • #15,490of 20,598
    Most Researched15
  • #5,427of 5,498
    Most Pathogenic Variants1
  • #10,097of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedASTL
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
PMID: 37363721
Front Cell Dev Biol · 2023
1.00
2
Novel homozygous variants in ASTL and WEE2 responsible for female infertility characterized by abnormal fertilization.
PMID: 40830301
J Assist Reprod Genet · 2025
0.90
3
Bi-allelic variants in ASTL cause abnormal fertilization or oocyte maturation defects.
PMID: 37133443
Hum Mol Genet · 2023
0.80
4
Effect of the COVID-19 pandemic on surgery for indeterminate thyroid nodules (THYCOVID): a retrospective, international, multicentre, cross-sectional study.
PMID: 37127041
Lancet Diabetes Endocrinol · 2023
0.70
5
ASTL is mutated in female infertility.
PMID: 34704130
Hum Genet · 2022
0.60