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

Gene ID: 7783, updated on 27-Nov-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
  • 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)

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

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