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ZPBP2 zona pellucida binding protein 2 [ Homo sapiens (human) ]

Gene ID: 124626, updated on 5-Aug-2022

Summary

Official Symbol
ZPBP2provided by HGNC
Official Full Name
zona pellucida binding protein 2provided by HGNC
Primary source
HGNC:HGNC:20678
See related
Ensembl:ENSG00000186075 MIM:608499; AllianceGenome:HGNC:20678
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
ZPBPL
Summary
Predicted to be involved in acrosome assembly and binding activity of sperm to zona pellucida. Predicted to act upstream of or within membrane lipid metabolic process and regulation of gene expression. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 54.6) See more
Orthologs
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Genomic context

See ZPBP2 in Genome Data Viewer
Location:
17q21.1
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (39868202..39877896)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (40731925..40741619)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (38024455..38034149)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene IKAROS family zinc finger 3 Neighboring gene keratin 8 pseudogene 34 Neighboring gene ribosomal protein L39 pseudogene 4 Neighboring gene GSDMB 5' regulatory region Neighboring gene gasdermin B Neighboring gene uncharacterized LOC124903999 Neighboring gene ORMDL sphingolipid biosynthesis regulator 3

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.
EBI GWAS Catalog
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
EBI GWAS Catalog
Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.
EBI GWAS Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
EBI GWAS Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC41930

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in acrosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in binding of sperm to zona pellucida IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in circadian regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in membrane lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of immunoglobulin production IEA
Inferred from Electronic Annotation
more info
 
involved_in sphingolipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in acrosomal vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cell body IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in nucleus HDA PubMed 
part_of zona pellucida receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
zona pellucida-binding protein 2
Names
ZPBP-like protein

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_198844.3NP_942141.2  zona pellucida-binding protein 2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_942141.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter protein (isoform 1).
    Source sequence(s)
    BC043152, DB056422
    Consensus CDS
    CCDS11353.2
    UniProtKB/Swiss-Prot
    Q6X784
    Related
    ENSP00000367174.3, ENST00000377940.3
    Conserved Domains (1) summary
    pfam07354
    Location:34305
    Sp38; Zona-pellucida-binding protein (Sp38)
  2. NM_199321.3NP_955353.1  zona pellucida-binding protein 2 isoform 2 precursor

    See identical proteins and their annotated locations for NP_955353.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an additional in-frame exon in the 5' coding region, compared to variant 1, which results in a longer protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AY251603, BC043152, DB056422
    Consensus CDS
    CCDS11352.1
    UniProtKB/Swiss-Prot
    Q6X784, Q86XL5
    Related
    ENSP00000335384.5, ENST00000348931.9
    Conserved Domains (1) summary
    pfam07354
    Location:56327
    Sp38; Zona-pellucida-binding protein (Sp38)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    39868202..39877896
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047435318.1XP_047291274.1  zona pellucida-binding protein 2 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    40731925..40741619
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)