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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ZPBP2 Gene

protein-coding   GIFtS: 46
GCID: GC17P038024

Zona Pellucida Binding Protein 2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Zona Pellucida Binding Protein 21 2
ZPBPL2 3 5
ZPBP-Like Protein2 3
Zona Pellucida-Binding Protein 22

External Ids:    HGNC: 206781   Entrez Gene: 1246262   Ensembl: ENSG000001860757   OMIM: 6084995   UniProtKB: Q6X7843   

Export aliases for ZPBP2 gene to outside databases

Previous GC identifers: GC17P038399 GC17P035277 GC17P033818


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for ZPBP2 Gene: 
ZPBP2 (zona pellucida binding protein 2) is a protein-coding gene. Diseases associated with ZPBP2 include primary biliary cirrhosis, and hyperuricemia. An important paralog of this gene is ZPBP.

UniProtKB/Swiss-Prot: ZPBP2_HUMAN, Q6X784
Function: May be implicated in gamete interaction during fertilization




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ZPBP2 gene promoter:
         SRF   Pax-5   AML1a   MAZR   SRF (504 AA)   ATF-2   RORalpha2   FAC1   E2F   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidZPBP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ZPBP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZPBP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q12   Ensembl cytogenetic band:  17q12   HGNC cytogenetic band: 17q21.1

ZPBP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZPBP2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P038024:  view genomic region     (about GC identifiers)

Start:
38,024,417 bp from pter      End:
38,034,149 bp from pter
Size:
9,733 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ZPBP2_HUMAN, Q6X784 (See protein sequence)
Recommended Name: Zona pellucida-binding protein 2 precursor  
Size: 338 amino acids; 38652 Da
Subcellular location: Secreted (Potential)
Secondary accessions: A8K8L8 Q6X783 Q86XL5
Alternative splicing: 2 isoforms:  Q6X784-1   Q6X784-2   

Explore the universe of human proteins at neXtProt for ZPBP2: NX_Q6X784

Explore proteomics data for ZPBP2 at MOPED 

ZPBP2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

ZPBP2 Protein Expression

REFSEQ proteins (2 alternative transcripts): 
NP_942141.2  NP_955353.1  

ENSEMBL proteins: 
 ENSP00000335384   ENSP00000462463   ENSP00000462067   ENSP00000367174  

Human Recombinant Protein Products for ZPBP2: 
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Cloud-Clone Corp. Proteins for ZPBP2 

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001669acrosomal vesicle IEA--
GO:0002199zona pellucida receptor complex IEA--
GO:0005576extracellular region IEA--
GO:0097223sperm part ----

ZPBP2 for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

2 InterPro protein domains:
 IPR007110 Ig-like_dom
 IPR010857 Sp38-bd

Graphical View of Domain Structure for InterPro Entry Q6X784

ProtoNet protein and cluster: Q6X784

1 Blocks protein domain: IPB010857 Zona-pellucida-binding

UniProtKB/Swiss-Prot: ZPBP2_HUMAN, Q6X784
Similarity: Belongs to the zona pellucida-binding protein Sp38 family


ZPBP2 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: ZPBP2_HUMAN, Q6X784
Function: May be implicated in gamete interaction during fertilization

     Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
     
ZPBP2 for ontologies           About GeneDecksing


Phenotypes:
     2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Zpbp2):
 endocrine/exocrine gland  reproductive system 

ZPBP2 for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Zpbp2tm1Zuk for ZPBP2

   inGenious Targeting Laboratory - Custom generated mouse model solutions for ZPBP2 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ZPBP2

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   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ZPBP2 

miRNA
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hsa-miR-30c hsa-miR-3607-3p hsa-let-7a-2* hsa-miR-30d hsa-miR-192 hsa-miR-550a* hsa-miR-30a hsa-miR-550b
SwitchGear 3'UTR luciferase reporter plasmidZPBP2 3' UTR sequence
Inhib. RNA
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Gene Editing
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Clone
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Cell Line
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZPBP2


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section




Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ZPBP2

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001675acrosome assembly IEA--
GO:0007339binding of sperm to zona pellucida IEA--

ZPBP2 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ZPBP2

Search CenterWatch for drugs/clinical trials and news about ZPBP2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ZPBP2 gene (2 alternative transcripts): 
NM_198844.2  NM_199321.2  

Unigene Cluster for ZPBP2:

Zona pellucida binding protein 2
Hs.367245  [show with all ESTs]
Unigene Representative Sequence: NM_199321
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000348931 ENST00000583811 ENST00000584588 ENST00000377940(uc002hte.3 uc002htf.3)

miRNA
Products:
     
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8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate ZPBP2 (see all 21):
hsa-miR-30c hsa-miR-3607-3p hsa-let-7a-2* hsa-miR-30d hsa-miR-192 hsa-miR-550a* hsa-miR-30a hsa-miR-550b
SwitchGear 3'UTR luciferase reporter plasmidZPBP2 3' UTR sequence
Inhib. RNA
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ZPBP2
Sirion Biotech Customized lentivirus for stable overexpression of ZPBP2 
                     Customized lentivirus expression plasmids for stable overexpression of ZPBP2 
Primer
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OriGene qPCR primer pairs and template standards for ZPBP2
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ZPBP2
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ZPBP2

Additional mRNA sequence: 

AK292383.1 AY251603.1 AY251604.1 BC043152.2 

3 DOTS entries:

DT.102821029  DT.111469  DT.100748342 

24/47 AceView cDNA sequences (see all 47):

BC043152 AY251603 AY251604 AA993353 AA917527 NM_199321 BU570505 NM_198844 
AA383678 AW172510 AI024879 BI830456 AA383045 BI830195 AI218027 BI829458 
AI799048 AA971057 AW172596 AA923754 AW628901 AI024857 AI220227 AI964005 

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for ZPBP2    About this scheme

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b
SP1:                                                      
SP2:        -                                             
SP3:        -     -     -                                 


ECgene alternative splicing isoforms for ZPBP2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ZPBP2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
ZPBP2 Expression
About this image


See ZPBP2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ZPBP2

SOURCE GeneReport for Unigene cluster: Hs.367245
    SABiosciences Custom PCR Arrays for ZPBP2
Primer
Products:
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QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ZPBP2
QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ZPBP2
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZPBP2

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for ZPBP2 gene from 3/9 species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Zpbp21 , 5 zona pellucida binding protein 21, 5 79.75(n)1
73.01(a)1
  11 (61.97 cM)5
693761  NM_027061.21  NP_081337.21 
 985511305 
chicken
(Gallus gallus)
Aves ZPBP21 zona pellucida binding protein 2 57.81(n)
51.16(a)
  404532  NM_206987.1  NP_996870.1 
lizard
(Anolis carolinensis)
Reptilia ZPBP26
zona pellucida binding protein 2
48(a)
1 ↔ 1
6(68611943-68633279)


ENSEMBL Gene Tree for ZPBP2 (if available)
TreeFam Gene Tree for ZPBP2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for ZPBP2 gene
ZPBP2  
1 SIMAP similar gene for ZPBP2 using alignment to 3 protein entries:     ZPBP2_HUMAN (see all proteins):
ZPBP

ZPBP2 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/310 SNPs in ZPBP2 are shown (see all 310)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1507139431,2
C--38022517(+) GACAGC/TGGAGA 2 -- us2k10--------
rs112844761,2
C--38022535(+) CAAAC-/AGTACC 2 -- us2k11Minor allele frequency- A:0.50NA 2
rs1392265701,2
C--38022825(+) CGCATA/GAGATC 2 -- us2k10--------
rs1452925541,2
--38022832(+) GATCCG/TGGAGC 2 -- us2k10--------
rs1476307231,2
C--38022920(+) GTAATA/GTATCA 2 -- us2k10--------
rs1405116151,2
--38023026(+) GTTTTC/TGCAAA 2 -- us2k10--------
rs46225391,2
C,F,A--38023031(-) gaaaaT/Attgca 2 -- us2k1 tfbs37Minor allele frequency- A:0.09NA WA CSA 248
rs1849669351,2
--38023069(+) AAAGTG/TTATAT 2 -- us2k10--------
rs1909428501,2
--38023312(+) GAACAC/GTTGAG 2 -- us2k10--------
rs14535601,2
C,F,A,H--38023441(-) AGCAAA/CCTTTG 2 -- us2k125Minor allele frequency- C:0.12MN NS EA NA WA CSA 2506

HapMap Linkage Disequilibrium report for ZPBP2 (38024417 - 38034149 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for ZPBP2: --

Human Gene Mutation Database (HGMD): ZPBP2
SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers for resequencing ZPBP2
DNA2.0 Custom Variant and Variant Library Synthesis for ZPBP2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 608499    OMIM disorders: --

8 diseases for ZPBP2:    About MalaCards
primary biliary cirrhosis    hyperuricemia    osteogenesis imperfecta    rabies
asthma    crohn's disease    systemic lupus erythematosus    lupus erythematosus


ZPBP2 for disorders           About GeneDecksing

Genetic Association Database (GAD): ZPBP2
Human Genome Epidemiology (HuGE) Navigator: ZPBP2 (2 documents)

Export disorders for ZPBP2 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for ZPBP2 gene, integrated from 9 sources (see all 20):
(articles sorted by number of sources associating them with ZPBP2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Identification and characterization of human ZPBP-like gene in silico. (PubMed id 12883658)1, 2, 9 Katoh M. and Katoh M. (2003)
  2. Meta-analysis identifies 29 additional ulcerative col itis risk loci, increasing the number of confirmed associations to 47. (PubMed id 21297633)1, 4 Anderson C.A....Rioux J.D. (2011)
  3. Allele-specific chromatin remodeling in the ZPBP2/GSD MB/ORMDL3 locus associated with the risk of asthma and autoimmune disease. (PubMed id 19732864)1, 4 Verlaan D.J....Naumova A.K. (2009)
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  5. Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as su sceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study. (PubMed id 22464253)1 Lessard C.J.... . (2012)
  6. Interaction between genetic and epigenetic variation d efines gene expression patterns at the asthma-associated locus 17q12-q21 in lymp hoblastoid cell lines. (PubMed id 22271045)1 Berlivet S....Naumova A.K. (2012)
  7. Host-microbe interactions have shaped the genetic arch itecture of inflammatory bowel disease. (PubMed id 23128233)1 Jostins L....Cho J.H. (2012)
  8. Genome-wide association study identifies TNFSF15 and P OU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese popu lation. (PubMed id 23000144)1 Nakamura M....Ishibashi H. (2012)
  9. Genome-wide association analysis of autoantibody posit ivity in type 1 diabetes cases. (PubMed id 21829393)4 Plagnol V....Todd J.A. (2011)
  10. Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8. (PubMed id 21594610)2 Kaneko H.... Ohno K. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 124626 HGNC: 20678 AceView: ZPBP2 Ensembl:ENSG00000186075 euGenes: HUgn124626
ECgene: ZPBP2 H-InvDB: ZPBP2

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for ZPBP2 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for ZPBP2 gene:
Search GeneIP for patents involving ZPBP2

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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(GIFtS: 73)
transforming growth factor, beta 1
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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