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

Gene ID: 164684, updated on 5-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (41998788..42058371)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (42478395..42537955)
105.20220307 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
  • 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_2023_10

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

    Related
    ENSP00000442447.1, ENST00000543212.5

  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

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