Alternative titles; symbols
HGNC Approved Gene Symbol: ZPBP2
Cytogenetic location: 17q21.1 Genomic coordinates (GRCh38) : 17:39,868,202-39,877,896 (from NCBI)
By genome walking in silico to identify genes linked to the ZNFN1A3 (606221) locus on chromosome 17, Katoh and Katoh (2003) identified ZPBP2, which they called ZPBPL. The deduced 316-amino acid protein contains an N-terminal signal peptide and a domain of almost 300 amino acids including 15 conserved cysteine residues that shares 38.1% identity with a homologous domain within ZPBP (608498). ZPBP2 also contains 4 N-glycosylation sites. Analysis of EST databases indicated that ZPBP2 mRNA was coexpressed with ZPBP mRNA in testis, germ cell tumor, and brain medulla.
Katoh and Katoh (2003) determined that the ZPBP2 gene contains 7 exons and spans about 9.7 kb.
Katoh and Katoh (2003) stated that the ZPBP2 gene maps to chromosome 17q12-q21. Other genes at this locus include ZNFN1A3, GRB7 (601522), and ERBB2 (164870). Comparative genomics revealed that this locus is paralogous to the locus on chromosome 7p that contains ZPBP.
Association with Primary Biliary Cirrhosis
For a discussion of a possible association between variation in the ZPBP2 gene and primary biliary cirrhosis, see PBC5 (614221).
Lin et al. (2007) disrupted Zpbp1 or Zpbp2 in mice. Loss of Zpbp1 resulted in male sterility with abnormal round-headed sperm morphology and no forward sperm motility. Ultrastructural analysis demonstrated that absence of Zpbp1 prevented proper acrosome compaction, leading to acrosome fragmentation and disruption of Sertoli-spermatid junctions. Males lacking Zpbp2 were subfertile, with aberrant acrosomal membrane invaginations, and they produced dysmorphic sperm with reduced ability to penetrate zona pellucida. Phylogenetic analysis suggested that the 2 paralogous ZPBP genes coevolved to play cooperative roles during spermiogenesis. Lin et al. (2007) concluded that both ZPBP proteins play an early structural role during spermiogenesis.
Katoh, M., Katoh, M. Identification and characterization of human ZPBP-like gene in silico. Int. J. Molec. Med. 12: 399-404, 2003. [PubMed: 12883658]
Lin, Y.-N., Roy, A., Yan, W., Burns, K. H., Matzuk, M. M. Loss of zona pellucida proteins in the acrosomal matrix disrupts acrosome biogenesis and sperm morphogenesis. Molec. Cell. Biol. 27: 6794-6805, 2007. Note: Erratum: Molec. Cell. Biol. 28: 2495 only, 2008. [PubMed: 17664285] [Full Text: https://doi.org/10.1128/MCB.01029-07]