Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	431705
Gene name	Astacin like metalloendopeptidase
Gene symbol	ASTL
Synonyms (NCBI Gene)	OOMD11OZEMA11SAS1B
Chromosome	2
Chromosome location	2q11.2

Show/Hide all (1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT036503	hsa-miR-1226-3p	CLASH	23622248

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005615	Component	Extracellular space	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS	22206759
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS	22206759
GO:0006508	Process	Proteolysis	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	ISS	22206759
GO:0007338	Process	Single fertilization	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009566	Process	Fertilization	IEA
GO:0009566	Process	Fertilization	ISS	22206759
GO:0010954	Process	Positive regulation of protein processing	IEA
GO:0010954	Process	Positive regulation of protein processing	ISS	22472438
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0060468	Process	Prevention of polyspermy	IBA
GO:0060468	Process	Prevention of polyspermy	IEA
GO:0060468	Process	Prevention of polyspermy	ISS	22472438
GO:0060473	Component	Cortical granule	IEA
GO:0060473	Component	Cortical granule	ISS	22472438
GO:0070001	Function	Aspartic-type peptidase activity	IEA
GO:0070001	Function	Aspartic-type peptidase activity	ISS	22472438
GO:0070002	Function	Glutamic-type peptidase activity	IEA
GO:0070002	Function	Glutamic-type peptidase activity	ISS	22472438
GO:2000360	Process	Negative regulation of binding of sperm to zona pellucida	IEA
GO:2000360	Process	Negative regulation of binding of sperm to zona pellucida	ISS	22472438

MIM	HGNC	e!Ensembl
608860	31704	ENSG00000188886

Q6HA08

Protein name

Astacin-like metalloendopeptidase (EC 3.4.-.-) (Oocyte astacin) (Ovastacin) (ZP2-proteinase)

Protein function

Oocyte-specific oolemmal receptor involved in sperm and egg adhesion and fertilization. Plays a role in the polyspermy inhibition. Probably acts as a protease for the post-fertilization cleavage of ZP2. Cleaves the sperm-binding ZP2 at the surfa

PDB

7ST8

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01400	Astacin	93 → 283	Astacin (Peptidase family M12A)	Domain

Sequence

MEGVGGLWPWVLGLLSLPGVILGAPLASSCAGACGTSFPDGLTPEGTQASGDKDIPAINQ
GLILEETPESSFLIEGDIIRPSPFRLLSATSNKWPMGGSGVVEVPFLLSSKYDEPSRQVI
LEALAEFERSTCIRFVTYQDQRDFISIIPMYGCFSSVGRSGGMQVVSLAPTCLQKGRGIV
LHELMHVLGFWHEHTRADRDRYIRVNWNEILPGFEINFIKSQSSNMLTPYDYSSVMHYGR
LAFSRRGLPTITPLWAPSVHIGQRWNLSASDITRVLKLYGCSPSGPRPRGRGSHAHSTGR
SPAPASLSLQRLLEALSAESRSPDPSGSSAGGQPVPAGPGESPHGWESPALKKLSAEASA
RQPQTLASSPRSRPGAGAPGVAQEQSWLAGVSTKPTVPSSEAGIQPVPVQGSPALPGGCV
PRNHFKGMSED

Sequence length

431

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Oocyte maturation defect 11	Pathogenic	rs2104773015	RCV001787285	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 11	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	26327203	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33629311	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29507667		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26327203		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29507667		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	33629311	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Uterine neoplasm	Pubtator	26327203	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ASTL (astacin like metalloendopeptidase)