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    WBP2NL WBP2 N-terminal like [ Homo sapiens (human) ]

    Gene ID: 164684, updated on 28-Oct-2024

    Summary

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    Official Symbol
    WBP2NLprovided by HGNC
    Official Full Name
    WBP2 N-terminal likeprovided by HGNC
    Primary source
    HGNC:HGNC:28389
    See related
    Ensembl:ENSG00000183066 MIM:610981; AllianceGenome:HGNC:28389
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PAWP; GRAMD7
    Summary
    WBP2NL is a sperm-specific WW domain-binding protein that promotes meiotic resumption and pronuclear development during oocyte fertilization (Wu et al., 2007 [PubMed 17289678]).[supplied by OMIM, Mar 2008]
    Expression
    Biased expression in testis (RPKM 7.0) and thyroid (RPKM 0.3) See more
    Orthologs
    mouse all
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    Genomic context

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    See WBP2NL in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (41998788..42058371)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (42478395..42537955)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42394792..42424479)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene centromere protein M Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19151 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42346983-42347610 Neighboring gene NANOG hESC enhancer GRCh37_chr22:42351209-42351720 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13815 Neighboring gene small integral membrane protein 45 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13816 Neighboring gene septin 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42394342-42394858 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42394859-42395373 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:42396708-42397907 Neighboring gene solute carrier family 25 member 5 pseudogene 1 Neighboring gene CYP2D6 downstream enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19152 Neighboring gene uncharacterized LOC107985551 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:42462918-42464117 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19153 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42469572-42470304 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42470305-42471035 Neighboring gene alpha-N-acetylgalactosaminidase Neighboring gene Sharpr-MPRA regulatory region 6008 Neighboring gene small nucleolar RNA, C/D box 13 pseudogene 1 Neighboring gene PH domain containing endocytic trafficking adaptor 2

    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. Is there an association between PAWP/WBP2NL sequence, expression, and distribution in sperm cells and fertilization failures in ICSI cycles? Freour T, et al. Mol Reprod Dev, 2018 Feb. PMID 29271520
    2. WBP2NL/PAWP mRNA and protein expression in sperm cells are not related to semen parameters, fertilization rate, or reproductive outcome. Freour T, et al. J Assist Reprod Genet, 2017 Jun. PMID 28444612, Free PMC Article
    3. Sperm content of postacrosomal WW binding protein is related to fertilization outcomes in patients undergoing assisted reproductive technology. Aarabi M, et al. Fertil Steril, 2014 Aug. PMID 24907910
    4. Oligoasthenoteratozoospermic (OAT) men display altered phospholipase C ζ (PLCζ) localization and a lower percentage of sperm cells expressing PLCζ and post-acrosomal sheath WW domain-binding protein (PAWP). Azad N, et al. Bosn J Basic Med Sci, 2018 May 20. PMID 28954204, Free PMC Article
    5. Status of sperm-born oocyte activating factors (PAWP, PLCζ) and sperm chromatin in uncapacitated, capacitated and acrosome-reacted conditions. Tavalaee M, et al. Hum Fertil (Camb), 2017 Jun. PMID 28076980

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PAWP/WBP2NL was present in all samples, and no significant differences were detected between patients with fertilization failure and donors in sequence variants or mean protein expression, or in the proportion of PAWP/WBP2NL-positive sperm. In conclusion, no clear association between PAWP/WBP2NL protein expression in sperm and fertilization outcome in ICSI were observed from this cohort.
      Title: Is there an association between PAWP/WBP2NL sequence, expression, and distribution in sperm cells and fertilization failures in ICSI cycles?
    2. PLCzeta and PAWP impairments may be one of the possible etiologies of decreased fertility in Oligoasthenoteratozoospermia
      Title: Oligoasthenoteratozoospermic (OAT) men display altered phospholipase C ζ (PLCζ) localization and a lower percentage of sperm cells expressing PLCζ and post-acrosomal sheath WW domain-binding protein (PAWP).
    3. The value of PAWP and PLCzeta as indicators of sperm quality was studied.
      Title: Status of sperm-born oocyte activating factors (PAWP, PLCζ) and sperm chromatin in uncapacitated, capacitated and acrosome-reacted conditions.
    4. Taken into account that WBP2NL/PAWP gene and protein levels and distribution did not correlate with fertilization rates, this study questions the interest of WBP2NL/PAWP protein and gene expression analysis in sperm cells as a prognostic factor for the outcome of ICSI cycles
      Title: WBP2NL/PAWP mRNA and protein expression in sperm cells are not related to semen parameters, fertilization rate, or reproductive outcome.
    5. High fertilization (56.06%) and pregnancy (41.7%) rates accomplished in this study following ICSI-AOA indicated that expression profiles of PLCzeta, PAWP, and TR-KIT were low in globozoospermic individuals
      Title: Expression profile of PLCζ, PAWP, and TR-KIT in association with fertilization potential, embryo development, and pregnancy outcomes in globozoospermic candidates for intra-cytoplasmic sperm injection and artificial oocyte activation.
    6. In male infertility, the absence of PLCZ1 alone is sufficient to prevent oocyte activation irrespective of the presence of PAWP.
      Title: Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP.
    7. Conclude that human PAWP is neither sufficient nor necessary for the Ca(2+) oscillations that initiate mammalian oocyte activation at fertilization.
      Title: Functional disparity between human PAWP and PLCζ in the generation of Ca2+ oscillations for oocyte activation.
    8. WBP2NL might play roles as an anti-apoptotic factor or co-activator to promote breast cancer cell survival and proliferation.
      Title: The Evaluation of WBP2NL-Related Genes Expression in Breast Cancer.
    9. Data suggest that PAWP (WW domain-binding protein 2-like) from sperm (rather than PLCZ [phospholipase C zeta] from sperm) acts as the 'sperm factor' within the egg at fertilization and is involved in 'egg activation' and embryogenesis. [REVIEW]
      Title: PLCζ or PAWP: revisiting the putative mammalian sperm factor that triggers egg activation and embryogenesis.
    10. Demonstrate significant correlations between sperm PAWP levels and both fertilization rates and normal embryonic development after intracytoplasmic sperm injection.
      Title: Sperm content of postacrosomal WW binding protein is related to fertilization outcomes in patients undergoing assisted reproductive technology.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations.
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ26145, MGC26816

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables WW domain binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables chromatin DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coactivator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in egg activation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in male pronucleus assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in meiotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    NOT involved_in regulation of cytosolic calcium ion concentration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in perinuclear theca ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sperm head IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    postacrosomal sheath WW domain-binding protein
    Names
    WW domain-binding protein 2-like

    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_152613.3 → NP_689826.2  postacrosomal sheath WW domain-binding protein

      See identical proteins and their annotated locations for NP_689826.2

      Status: VALIDATED

      Source sequence(s)
      AK128138, BC022546, Z99716
      Consensus CDS
      CCDS14029.1
      UniProtKB/Swiss-Prot
      A3KFF7, A8MSG5, B3KXX4, Q6ICG8, Q8TBF0, Q8TBF3
      Related
      ENSP00000332983.9, ENST00000328823.13
      Conserved Domains (2) summary
      cd13214
      Location:39 → 134
      PH-GRAM_WBP2; WW binding protein 2 (WB2) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam10349
      Location:103 → 263
      WWbp; WW-domain ligand protein

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      41998788..42058371
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441173.1 → XP_047297129.1  postacrosomal sheath WW domain-binding protein isoform X1

    2. XM_047441175.1 → XP_047297131.1  postacrosomal sheath WW domain-binding protein isoform X2

      UniProtKB/Swiss-Prot
      A3KFF7, A8MSG5, B3KXX4, Q6ICG8, Q8TBF0, Q8TBF3
      Related
      ENSP00000401002.1, ENST00000436265.5

    3. XM_047441172.1 → XP_047297128.1  postacrosomal sheath WW domain-binding protein isoform X1

    4. XM_047441174.1 → XP_047297130.1  postacrosomal sheath WW domain-binding protein isoform X2

      UniProtKB/Swiss-Prot
      A3KFF7, A8MSG5, B3KXX4, Q6ICG8, Q8TBF0, Q8TBF3
      Related
      ENSP00000328800.5, ENST00000329620.9

    5. XM_047441178.1 → XP_047297134.1  postacrosomal sheath WW domain-binding protein isoform X3

    6. XM_047441177.1 → XP_047297133.1  postacrosomal sheath WW domain-binding protein isoform X3

    7. XM_047441176.1 → XP_047297132.1  postacrosomal sheath WW domain-binding protein isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      42478395..42537955
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325207.1 → XP_054181182.1  postacrosomal sheath WW domain-binding protein isoform X2

      UniProtKB/Swiss-Prot
      A3KFF7, A8MSG5, B3KXX4, Q6ICG8, Q8TBF0, Q8TBF3

    2. XM_054325206.1 → XP_054181181.1  postacrosomal sheath WW domain-binding protein isoform X2

      UniProtKB/Swiss-Prot
      A3KFF7, A8MSG5, B3KXX4, Q6ICG8, Q8TBF0, Q8TBF3

    3. XM_054325210.1 → XP_054181185.1  postacrosomal sheath WW domain-binding protein isoform X3

    4. XM_054325209.1 → XP_054181184.1  postacrosomal sheath WW domain-binding protein isoform X3

    5. XM_054325205.1 → XP_054181180.1  postacrosomal sheath WW domain-binding protein isoform X1

    6. XM_054325204.1 → XP_054181179.1  postacrosomal sheath WW domain-binding protein isoform X1

    7. XM_054325208.1 → XP_054181183.1  postacrosomal sheath WW domain-binding protein isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ICG8.1 GenPept UniProtKB/Swiss-Prot:Q6ICG8

    Gene LinkOut

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

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