ZP2 (zona pellucida glycoprotein 2)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 7783
Gene name Zona pellucida glycoprotein 2
Gene symbol ZP2
Synonyms (NCBI Gene)
OOMD6OZEMA6ZPAZp-2
Chromosome 16
Chromosome location 16p12.3-p12.2
Summary The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed of three glycoproteins with various functions during fertilization and preimplantation development. The glycosylated mature peptide is one of the stru
SNPs SNP information provided by dbSNP.
3
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs755714246 C>G,T Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs1156454797 T>C Pathogenic Splice acceptor variant
rs1567212569 ->TCCA Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (31)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15950651, 23355646, 28886344
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
GO:0005771 Component Multivesicular body IEA
GO:0005771 Component Multivesicular body ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
182888 13188 ENSG00000103310
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q05996
Protein name Zona pellucida sperm-binding protein 2 (Zona pellucida glycoprotein 2) (Zp-2) (Zona pellucida protein A) [Cleaved into: Processed zona pellucida sperm-binding protein 2]
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 (PubMed:29895852). The zona pellucida is composed of 3 to 4
PDB 8RKE , 8RKF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00100 Zona_pellucida 372 → 635 Zona pellucida-like domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in occytes(at protein level). {ECO:0000269|PubMed:29895852}.
Sequence 
MACRQRGGSWSPSGWFNAGWSTYRSISLFFALVTSGNSIDVSQLVNPAFPGTVTCDEREI
TVEFPSSPGTKKWHASVVDPLGLDMPNCTYILDPEKLTLRATYDNCTRRVHGGHQMTIRV
MNNSAALRHGAVMYQFFCPAMQVEETQGLSASTICQKDFMSFSLPRVFSGLADDSKGTKV
QMGWSIEVGDGARAKTLTLPEAMKEGFSLLIDNHRMTFHVPFNATGVTHYVQGNSHLYMV
SLKLTFISPGQKVIFSSQAICAPDPVTCNATHMTLTIPEFPGKLKSVSFENQNIDVSQLH
DNGIDLEATNGMKLHFSKTLLKTKLSEKCLLHQFYLASLKLTFLLRPETVSMVIYPECLC
ESPVSIVTGELCTQDGFMDVEVYSYQTQPALDLGTLRVGNSSCQPVFEAQSQGLVRFHIP
LNGCGTRYKFEDDKVVYENEIHALWTDFPPSKISRDSEFRMTVKCSYSRNDMLLNINVES
LTPPVASVKLGPFTLILQSYPDNSYQQPYGENEYPLVRFLRQPIYMEVRVLNRDDPNIKL
VLDDCWATSTMDPDSFPQWNVVVDGCAYDLDNYQTTFHPVGSSVTHPDHYQRFDMKAFAF
VSEAHVLSSLVYFHCSALICNRLSPDSPLCSVTCPVSSRHRRATGATEAEKMTVSLPGPI
LLLSDDSSFRGVGSSDLKASGSSGEKSRSETGEEVGSRGAMDTKGHKTAGDVGSKAVAAV
AAFAGVVATLGFIYYLYEKRTVSNH
Sequence length 745
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Interaction With Cumulus Cells And The Zona Pellucida
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
15
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Oocyte maturation defect 6 Likely pathogenic; Pathogenic rs772233041, rs1156454797, rs1567212569, rs755714246 RCV002467398
RCV000758705
RCV000758706
RCV000850116
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ZP2-related disorder Benign; Likely benign rs16971234, rs112807170, rs764861147, rs187716957, rs760672647, rs140262712, rs2075520, rs2075526, rs773110618, rs35162028, rs145329860 RCV003967351
RCV003931525
RCV003914671
RCV003929428
RCV003922207
RCV003926822
RCV003982040
RCV003982206
RCV003957278
RCV003920558
RCV003920670
Show/Hide Text Mining Associations (4)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Empty Sella Syndrome Associate 32573113, 35366744, 36931917
Herpes Zoster Associate 35366744, 36931917
Infertility Associate 35366744
Infertility Female Associate 32573113, 35366744, 36931917