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    ZP2 zona pellucida glycoprotein 2 [ Homo sapiens (human) ]

    Gene ID: 7783, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ZP2provided by HGNC
    Official Full Name
    zona pellucida glycoprotein 2provided by HGNC
    Primary source
    HGNC:HGNC:13188
    See related
    Ensembl:ENSG00000103310 MIM:182888; AllianceGenome:HGNC:13188
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZPA; Zp-2; OOMD6; OZEMA6
    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 structural components of the zona pellucida and functions in secondary binding and penetration of acrosome-reacted spermatozoa. Female mice lacking this gene do not form a stable zona matrix and are sterile. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See ZP2 in Genome Data Viewer
    Location:
    16p12.3-p12.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (21197450..21214510, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (21128399..21145450, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (21208771..21225831, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene dynein axonemal heavy chain 3 Neighboring gene uncharacterized LOC107984888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10547 Neighboring gene Sharpr-MPRA regulatory region 1818 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7248 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7249 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:21170492-21170992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10549 Neighboring gene lipid droplet assembly factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10551 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:21233480-21234004 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:21234005-21234530 Neighboring gene uncharacterized LOC105371123 Neighboring gene ankyrin repeat and sterile alpha motif domain containing 4B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Localization and functional importance of a conserved zona pellucida 2 protein domain in the human and bovine ovary using monoclonal anti-ZP2 peptide antibodies. Hinsch E, et al. Theriogenology, 2003 Oct 15. PMID 14511786
    2. Novel Heterozygous Mutations in ZP2 Cause Abnormal Zona Pellucida and Female Infertility. Hou M, et al. Reprod Sci, 2022 Oct. PMID 35595959
    3. A mouse acrosomal cortical matrix protein, MC41, has ZP2-binding activity and forms a complex with a 75-kDa serine protease. Tanii I, et al. Dev Biol, 2001 Oct 15. PMID 11784014
    4. Expression of recombinant human zona pellucida protein 2 and its binding capacity to spermatozoa. Tsubamoto H, et al. Biol Reprod, 1999 Dec. PMID 10570015
    5. ZP2 cleavage blocks polyspermy by modulating the architecture of the egg coat. Nishio S, et al. Cell, 2024 Mar 14. PMID 38490181,

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ZP2 cleavage blocks polyspermy by modulating the architecture of the egg coat.
      Title: ZP2 cleavage blocks polyspermy by modulating the architecture of the egg coat.
    2. Novel variants in ZP1, ZP2 and ZP3 associated with empty follicle syndrome and abnormal zona pellucida.
      Title: Novel variants in ZP1, ZP2 and ZP3 associated with empty follicle syndrome and abnormal zona pellucida.
    3. Novel Heterozygous Mutations in ZP2 Cause Abnormal Zona Pellucida and Female Infertility.
      Title: Novel Heterozygous Mutations in ZP2 Cause Abnormal Zona Pellucida and Female Infertility.
    4. Novel mutations in ZP2 and ZP3 cause female infertility in three patients.
      Title: Novel mutations in ZP2 and ZP3 cause female infertility in three patients.
    5. Identification of a heterozygous variant of ZP2 as a novel cause of empty follicle syndrome in humans and mice.
      Title: Identification of a heterozygous variant of ZP2 as a novel cause of empty follicle syndrome in humans and mice.
    6. A novel homozygous variant in ZP2 causes abnormal zona pellucida formation and female infertility.
      Title: A novel homozygous variant in ZP2 causes abnormal zona pellucida formation and female infertility.
    7. Zona Pellucida Proteins, Fibrils, and Matrix.
      Title: Zona Pellucida Proteins, Fibrils, and Matrix.
    8. Novel mutations in ZP1 and ZP2 cause primary infertility due to empty follicle syndrome and abnormal zona pellucida.
      Title: Novel mutations in ZP1 and ZP2 cause primary infertility due to empty follicle syndrome and abnormal zona pellucida.
    9. We identified loss-of-function pathogenic variants of ZP2 causing a structurally abnormal and dysfunctional zona pellucida, resulting in fertilization failure and female infertility
      Title: ZP2 pathogenic variants cause in vitro fertilization failure and female infertility.
    10. Mutations in ZP1, ZP2, and ZP3 might affect the corresponding protein expression, secretion, and interaction, thus providing a mechanistic explanation for the phenotypes for female infertility.
      Title: Novel mutations in ZP1, ZP2, and ZP3 cause female infertility due to abnormal zona pellucida formation.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Oocyte maturation defect 6
    MedGen: C5193047 OMIM: 618353 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acrosin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables acrosin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables coreceptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of egg coat IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of egg coat IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables structural constituent of egg coat ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in binding of sperm to zona pellucida IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in binding of sperm to zona pellucida ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in prevention of polyspermy IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in prevention of polyspermy ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    NOT involved_in regulation of acrosome reaction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in collagen-containing extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in collagen-containing extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in egg coat IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in egg coat IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in multivesicular body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    zona pellucida sperm-binding protein 2
    Names
    zona pellucida 2
    zona pellucida glycoprotein 2 (sperm receptor)
    zona pellucida glycoprotein ZP2
    zona pellucida protein A

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001376231.1 → NP_001363160.1  zona pellucida sperm-binding protein 2 isoform 2 preproprotein

      Status: REVIEWED

      Source sequence(s)
      AF001550, BC096305
      Conserved Domains (1) summary
      pfam00100
      Location:372 → 622
      Zona_pellucida; Zona pellucida-like domain

    2. NM_001376232.1 → NP_001363161.1  zona pellucida sperm-binding protein 2 isoform 1 preproprotein

      Status: REVIEWED

      Source sequence(s)
      AF001550, AK313003
      Consensus CDS
      CCDS10596.1
      UniProtKB/Swiss-Prot
      B2R7J2, Q05996, Q4VAN9, Q4VAP0, Q4VAP1
      Related
      ENSP00000458991.2, ENST00000574091.6
      Conserved Domains (1) summary
      pfam00100
      Location:372 → 631
      Zona_pellucida; Zona pellucida-like domain

    3. NM_001376233.1 → NP_001363162.1  zona pellucida sperm-binding protein 2 isoform 3 preproprotein

      Status: REVIEWED

      Source sequence(s)
      AF001550
      Conserved Domains (1) summary
      pfam00100
      Location:372 → 631
      Zona_pellucida; Zona pellucida-like domain

    4. NM_003460.2 → NP_003451.1  zona pellucida sperm-binding protein 2 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_003451.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF001550, AK310454
      Consensus CDS
      CCDS10596.1
      UniProtKB/Swiss-Prot
      B2R7J2, Q05996, Q4VAN9, Q4VAP0, Q4VAP1
      Related
      ENSP00000460971.1, ENST00000574002.1
      Conserved Domains (1) summary
      pfam00100
      Location:372 → 631
      Zona_pellucida; Zona pellucida-like domain

    RNA

    1. NR_164788.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AF001550

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      21197450..21214510 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_017852933.1 Reference GRCh38.p14 PATCHES

      Range
      21141..38201 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      21128399..21145450 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001290104.1: Suppressed sequence

      Description
      NM_001290104.1: This RefSeq was removed because currently there is support for the protein but not for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q05996.1 GenPept UniProtKB/Swiss-Prot:Q05996

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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