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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7784
Gene name	Zona pellucida glycoprotein 3
Gene symbol	ZP3
Synonyms (NCBI Gene)	OOMD3OZEMA3ZP3AZP3BZPCZp-3
Chromosome	7
Chromosome location	7q11.23
Summary	The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by this gene

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1375640377	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1554625334	G>A	Pathogenic	Coding sequence variant, missense variant

Show/Hide all (1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT025811	hsa-miR-7-5p	Microarray	19073608

Show/Hide all (48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001809	Process	Positive regulation of type IV hypersensitivity	ISS
GO:0001825	Process	Blastocyst formation	ISS
GO:0002455	Process	Humoral immune response mediated by circulating immunoglobulin	ISS
GO:0002687	Process	Positive regulation of leukocyte migration	ISS
GO:0002922	Process	Positive regulation of humoral immune response	IDA	19004505
GO:0005201	Function	Extracellular matrix structural constituent	HDA	28344315
GO:0005515	Function	Protein binding	IPI	15950651, 19945174, 23355646, 28886344, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IMP	19246320
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0007165	Process	Signal transduction	IEA
GO:0007338	Process	Single fertilization	IEA
GO:0007339	Process	Binding of sperm to zona pellucida	IBA
GO:0007339	Process	Binding of sperm to zona pellucida	IDA	19246320, 19700799
GO:0007339	Process	Binding of sperm to zona pellucida	IGI	9609824
GO:0007339	Process	Binding of sperm to zona pellucida	IMP	19004505
GO:0016020	Component	Membrane	IEA
GO:0030246	Function	Carbohydrate binding	IDA	19246320
GO:0031012	Component	Extracellular matrix	HDA	28344315
GO:0031012	Component	Extracellular matrix	IDA	19246320
GO:0032190	Function	Acrosin binding	IBA
GO:0032190	Function	Acrosin binding	IPI	15950651
GO:0032729	Process	Positive regulation of type II interferon production	ISS
GO:0032753	Process	Positive regulation of interleukin-4 production	ISS
GO:0035803	Process	Egg coat formation	IBA
GO:0035803	Process	Egg coat formation	ISS
GO:0035804	Function	Structural constituent of egg coat	IBA
GO:0035804	Function	Structural constituent of egg coat	ISS
GO:0035805	Component	Egg coat	IBA
GO:0035805	Component	Egg coat	IDA	29895852
GO:0035805	Component	Egg coat	IEA
GO:0042102	Process	Positive regulation of T cell proliferation	ISS
GO:0042802	Function	Identical protein binding	IPI	26879157, 28886344
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0048018	Function	Receptor ligand activity	ISS
GO:0048599	Process	Oocyte development	ISS
GO:0050729	Process	Positive regulation of inflammatory response	ISS
GO:2000344	Process	Positive regulation of acrosome reaction	IBA
GO:2000344	Process	Positive regulation of acrosome reaction	IDA	11751269, 18667750, 20394732
GO:2000360	Process	Negative regulation of binding of sperm to zona pellucida	IDA	18667750
GO:2000368	Process	Positive regulation of acrosomal vesicle exocytosis	IDA	19246320
GO:2000368	Process	Positive regulation of acrosomal vesicle exocytosis	IMP	19004505
GO:2000386	Process	Positive regulation of ovarian follicle development	ISS
GO:2000388	Process	Positive regulation of antral ovarian follicle growth	ISS

MIM	HGNC	e!Ensembl
182889	13189	ENSG00000188372

P21754

Protein name

Zona pellucida sperm-binding protein 3 (Sperm receptor) (ZP3A/ZP3B) (Zona pellucida glycoprotein 3) (Zp-3) (Zona pellucida protein C) [Cleaved into: Processed zona pellucida sperm-binding protein 3]

Protein function

Component of the zona pellucida, an extracellular matrix surrounding oocytes which mediates sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy. The zona pellucida is composed of 3 to 4 glycoproteins, ZP1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00100	Zona_pellucida	46 → 301	Zona pellucida-like domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in oocytes (at protein level). {ECO:0000269|PubMed:29895852}.

Sequence

MELSYRLFICLLLWGSTELCYPQPLWLLQGGASHPETSVQPVLVECQEATLMVMVSKDLF
GTGKLIRAADLTLGPEACEPLVSMDTEDVVRFEVGLHECGNSMQVTDDALVYSTFLLHDP
RPVGNLSIVRTNRAEIPIECRYPRQGNVSSQAILPTWLPFRTTVFSEEKLTFSLRLMEEN
WNAEKRSPTFHLGDAAHLQAEIHTGSHVPLRLFVDHCVATPTPDQNASPYHTIVDFHGCL
VDGLTDASSAFKVPRPGPDTLQFTVDVFHFANDSRNMIYITCHLKVTLAEQDPDELNKAC
SFSKPSNSWFPVEGSADICQCCNKGDCGTPSHSRRQPHVMSQWSRSASRNRRHVTEEADV
TVGPLIFLDRRGDHEVEQWALPSDTSVVLLGVGLAVVVSLTLTAVILVLTRRCRTASHPV
SASE

Sequence length

424

Interactions

View interactions

	Reactome
			Interaction With Cumulus Cells And The Zona Pellucida

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Empty follicle syndrome	Pathogenic	rs1554625334	RCV000505809	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Empty ovarian follicle	Pathogenic	rs2115914145	RCV001849197	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oocyte maturation defect 3	Likely pathogenic; Pathogenic	rs2115882062, rs1554625334, rs1375640377	RCV001808990 RCV000509059 RCV000850117	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

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.
FEMALE INFERTILITY DUE TO ZONA PELLUCIDA DEFECT	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 3	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ZP3-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (15)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33828127	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	BEFREE	28004243		★★★★★ ★☆☆☆☆ Found in Text Mining only
Empty follicle syndrome	Empty Follicle Syndrome	CLINVAR_DG	28886344		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometriosis	Endometriosis	BEFREE	30611916		★★★★★ ★☆☆☆☆ Found in Text Mining only
Female infertility due to zona pellucida defect	Female infertility	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infertility	Infertility	Pubtator	32573113, 35366744, 40287760	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Female	Female infertility	Pubtator	28886344, 32573113, 35366744, 36931917, 40287760	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	33828127	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
OOCYTE MATURATION DEFECT 1	Oocyte Maturation Defect	ORPHANET_DG	28886340		★★★★★ ★☆☆☆☆ Found in Text Mining only
OOCYTE MATURATION DEFECT 3	Oocyte Maturation Defect	ORPHANET_DG	28886340		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OOCYTE MATURATION DEFECT 3	Oocyte Maturation Defect	UNIPROT_DG	28886344		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OOCYTE MATURATION DEFECT 3	Oocyte Maturation Defect	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian Failure, Premature	Ovarian Failure	BEFREE	31081266		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASCAT_DG	25663231		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature Menopause	Premature Menopause	BEFREE	31081266		★★★★★ ★☆☆☆☆ Found in Text Mining only

ZP3 (zona pellucida glycoprotein 3)