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

PVRL4 Gene

protein-coding   GIFtS: 57
GCID: GC01M161040

Poliovirus Receptor-Related 4

  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
Poliovirus Receptor-Related 41 2     Nectin 42
PRR42 3 5     nectin-42
LNIR2 3     Poliovirus Receptor-Related Protein 42
Ig Superfamily Receptor LNIR2 3     Nectin-43
EDSS12 5     

External Ids:    HGNC: 196881   Entrez Gene: 816072   Ensembl: ENSG000001432177   OMIM: 6096075   UniProtKB: Q96NY83   

Export aliases for PVRL4 gene to outside databases

Previous GC identifers: GC00U914373 GC01M158259 GC01M157854 GC01M159307 GC01M132398


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

Entrez Gene summary for PVRL4 Gene:
This gene encodes a member of the nectin family. The encoded protein contains two immunoglobulin-like (Ig-like)
C2-type domains and one Ig-like V-type domain. It is involved in cell adhesion through trans-homophilic and
-heterophilic interactions. It is a single-pass type I membrane protein. The soluble form is produced by
proteolytic cleavage at the cell surface by the metalloproteinase ADAM17/TACE. The secreted form is found in both
breast tumor cell lines and breast tumor patients. Mutations in this gene are the cause of ectodermal
dysplasia-syndactyly syndrome type 1, an autosomal recessive disorder. Alternatively spliced transcript variants
have been found but the full-length nature of the variant has not been determined.(provided by RefSeq, Jan 2011)

GeneCards Summary for PVRL4 Gene: 
PVRL4 (poliovirus receptor-related 4) is a protein-coding gene. Diseases associated with PVRL4 include syndactyly, and ectodermal dysplasia-syndactyly syndrome 1, and among its related super-pathways are Cell-cell junction organization and Germ Cell-Sertoli Cell Junction Dynamics. GO annotations related to this gene include protein binding. An important paralog of this gene is PVR.

UniProtKB/Swiss-Prot: PVRL4_HUMAN, Q96NY8
Function: Seems to be involved in cell adhesion through trans-homophilic and -heterophilic interactions, the
latter including specifically interactions with PVRL2/nectin-1. Does not act as receptor for alpha-herpesvirus
entry into cells




(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_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PVRL4 gene promoter:
         Elk-1   Sp1   GATA-3   p53   POU3F1   Olf-1   AP-2gamma   AP-2beta   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPVRL4 promoter sequence
   Search SABiosciences Chromatin IP Primers for PVRL4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PVRL4


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

Entrez Gene cytogenetic band: 1q22-q23.2   Ensembl cytogenetic band:  1q23.3   HGNC cytogenetic band: 1q22-q23.2

PVRL4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PVRL4 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M161040:  view genomic region     (about GC identifiers)

Start:
161,040,781 bp from pter      End:
161,059,389 bp from pter
Size:
18,609 bases      Orientation:
minus 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: PVRL4_HUMAN, Q96NY8 (See protein sequence)
Recommended Name: Poliovirus receptor-related protein 4 precursor  
Size: 510 amino acids; 55454 Da
Subunit: Self-associates. Interacts via its Ig-like V-type domain with PVRL1/nectin-1 Ig-like V-type domain.
Interacts via its C-terminus with MLLT4. Binds to Measles virus protein H and acts as a receptor for this virus
Subcellular location: Cell membrane; Single-pass type I membrane protein (Potential). Cell junction, adherens
junction. Note=Colocalizes with MLLT4 at cadherin-based adherens junctions
Subcellular location: Processed poliovirus receptor-related protein 4: Secreted. Note=The secreted form is found
in breast tumor patients
3 PDB 3D structures from and Proteopedia for PVRL4:
4FRW (3D)        4GJT (3D)        4JJH (3D)    
Secondary accessions: Q96K15

Explore the universe of human proteins at neXtProt for PVRL4: NX_Q96NY8

Explore proteomics data for PVRL4 at MOPED 

Post-translational modifications:

  • UniProtKB: The soluble form is produced by proteolytic cleavage at the cell surface (shedding), probably by ADAM17/TACE
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96NY8

  • PVRL4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PVRL4 Protein Expression
    REFSEQ proteins: NP_112178.2  
    ENSEMBL proteins: 
     ENSP00000356991   ENSP00000406015  
    Reactome Protein details: Q96NY8
    Human Recombinant Protein Products for PVRL4: 
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    Novus Biologicals PVRL4 Proteins
    Novus Biologicals PVRL4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PVRL4 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005886plasma membrane TAS--
    GO:0005912adherens junction IEA--
    GO:0016021integral to membrane IEA--

    PVRL4 for ontologies           About GeneDecksing



    PVRL4 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of PVRL4
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    ThermoFisher Antibodies for PVRL4
    LSBio Antibodies in human, mouse, rat for PVRL4 

    Assay Products for PVRL4: 
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    Cloud-Clone Corp. ELISAs for PVRL4 
    Cloud-Clone Corp. CLIAs for PVRL4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    C2SET: Immunoglobulin superfamily / C2-set domain containing
    VSET: Immunoglobulin superfamily / V-set domain containing

    5/7 InterPro protein domains (see all 7):
     IPR003598 Ig_sub2
     IPR013162 CD80_C2-set
     IPR013783 Ig-like_fold
     IPR013106 Ig_V-set
     IPR007110 Ig-like_dom

    Graphical View of Domain Structure for InterPro Entry Q96NY8

    ProtoNet protein and cluster: Q96NY8

    2 Blocks protein domains:
    IPB003598 Immunoglobulin C-2 type
    IPB013106 Immunoglobulin V-set


    UniProtKB/Swiss-Prot: PVRL4_HUMAN, Q96NY8
    Similarity: Belongs to the nectin family
    Similarity: Contains 2 Ig-like C2-type (immunoglobulin-like) domains
    Similarity: Contains 1 Ig-like V-type (immunoglobulin-like) domain


    PVRL4 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: PVRL4_HUMAN, Q96NY8
    Function: Seems to be involved in cell adhesion through trans-homophilic and -heterophilic interactions, the
    latter including specifically interactions with PVRL2/nectin-1. Does not act as receptor for alpha-herpesvirus
    entry into cells

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    PVRL4 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PVRL4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PVRL4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PVRL4 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PVRL4 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PVRL4
    8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate PVRL4 (see all 34):
    hsa-miR-194* hsa-miR-429 hsa-miR-330-5p hsa-miR-766 hsa-miR-650 hsa-miR-502-3p hsa-miR-4267 hsa-miR-10b*
    SwitchGear 3'UTR luciferase reporter plasmidPVRL4 3' UTR sequence
    Inhib. RNA
    Products:
        
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                         Customized lentivirus expression plasmids for stable overexpression of PVRL4 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PVRL4


    (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

    SuperPaths for PVRL4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Cell-cell junction organization
    Cell-cell junction organization0.69
    Cell-Cell communication0.64
    Cell junction organization0.69
    Adherens junctions interactions0.51
    2Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    3PAK Pathway
    Epithelial Adherens Junctions0.36
    4Nectin/Necl trans heterodimerization
    Nectin/Necl trans heterodimerization
    5Adherens junction
    Adherens junction

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PVRL4
        Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Adherens Junctions

    5        Reactome Pathways for PVRL4
        Adherens junctions interactions
    Nectin/Necl trans heterodimerization
    Cell junction organization
    Cell-Cell communication
    Cell-cell junction organization


    1         Kegg Pathway  (Kegg details for PVRL4):
        Adherens junction


    PVRL4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PVRL4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/14 Interacting proteins for PVRL4 (Q96NY81, 2, 3 ENSP000003569914) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PVRL1Q152231, 2, 3, ENSP000002640254EBI-4314784,EBI-1771314 MINT-49749 I2D: score=2 STRING: ENSP00000264025
    MLLT4P551962, 3, ENSP000003836234MINT-58416 I2D: score=1 STRING: ENSP00000383623
    PICK1Q9NRD53, ENSP000003494654I2D: score=1 STRING: ENSP00000349465
    TIGITQ495A11, ENSP000003731674EBI-4314784,EBI-4314807 STRING: ENSP00000373167
    PARD3ENSP000003639214STRING: ENSP00000363921
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0019048modulation by virus of host morphology or physiology IEA--
    GO:0034329cell junction assembly TAS--
    GO:0034332adherens junction organization TAS--
    GO:0045216cell-cell junction organization TAS--

    PVRL4 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 PVRL4

    Search CenterWatch for drugs/clinical trials and news about PVRL4

    (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 PVRL4 gene: 
    NM_030916.2  

    Unigene Clusters for PVRL4:

    Poliovirus receptor-related 4
    Hs.492490  [show with all ESTs], Hs.732297
    Unigene Representative Sequences: NM_030916, AK301481
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368012(uc010pjy.1 uc010pjz.1 uc001fxo.2) ENST00000486694
    ENST00000453926
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PVRL4
    8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate PVRL4 (see all 34):
    hsa-miR-194* hsa-miR-429 hsa-miR-330-5p hsa-miR-766 hsa-miR-650 hsa-miR-502-3p hsa-miR-4267 hsa-miR-10b*
    SwitchGear 3'UTR luciferase reporter plasmidPVRL4 3' UTR sequence
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PVRL4
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    GenScript: all cDNA clones in your preferred vector: PVRL4 (NM_030916)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PVRL4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PVRL4
    Sirion Biotech Customized lentivirus for stable overexpression of PVRL4 
                         Customized lentivirus expression plasmids for stable overexpression of PVRL4 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PVRL4
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PVRL4

    Additional mRNA sequence: AK301481.1 

    9 DOTS entries:

    DT.422532  DT.95089567  DT.100745602  DT.100805489  DT.100021156  DT.91650327  DT.91718391  DT.91755448 
    DT.121377582 

    24/71 AceView cDNA sequences (see all 71):

    AW118248 BX091355 NM_030916 BC010423 BU674581 AA028028 BM853692 BE900186 
    BC013892 BQ022510 AK027753 BQ025166 BU187471 AF426163 BQ001440 AF218028 
    BG698537 BM978805 BP351637 AI140016 BG681657 AW662232 BX641083 BQ022124 

    GeneLoc Exon Structure


    (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

    PVRL4 expression in normal human tissues (normalized intensities)      PVRL4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    PVRL4 Expression
    About this image


    PVRL4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Tooth (Integumentary System)    fully expand to see all 4 entries
             visceral organ/oral region/upper jaw   
     
     Oral Cavity (Gastrointestinal Tract)    fully expand to see all 3 entries
             mouth   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Lower Urinary Tract (Urinary System)
             visceral organ/urethra of male   

    See PVRL4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PVRL4

    SOURCE GeneReport for Unigene clusters: Hs.492490 Hs.732297

    UniProtKB/Swiss-Prot: PVRL4_HUMAN, Q96NY8
    Tissue specificity: Predominantly expressed in placenta. Not detected in normal breast epithelium but expressed in
    breast carcinoma

        SABiosciences Expression via Pathway-Focused PCR Arrays including PVRL4: 
              Adherens Junctions in human mouse rat
              Cell Junction PathwayFinder in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PVRL4

    (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 PVRL4 gene from 3/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pvrl41 , 5 poliovirus receptor-related 41, 5 87.73(n)1
    92.52(a)1
      1 (79.37 cM)5
    717401  NM_027893.31  NP_082169.21 
     1713700995 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.135472 Xenopus laevis transcribed sequence with weak similarity more 73.36(n)    BJ070452.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5605121 poliovirus receptor-related protein 4-like 47.26(n)
    34.98(a)
      560512  XM_683919.4  XP_689011.4 


    ENSEMBL Gene Tree for PVRL4 (if available)
    TreeFam Gene Tree for PVRL4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PVRL4 gene
    PVR2  PVRL22  PVRL12  PVRL32  
    3 SIMAP similar genes for PVRL4 using alignment to 2 protein entries:     PVRL4_HUMAN (see all proteins):
    CEA    PSG11    PVRL3

    PVRL4 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

    10/396 SNPs in PVRL4 are shown (see all 396)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0641894
    Ectodermal dysplasia-syndactyly syndrome 1 (EDSS1)4--see VAR_0641892 T M mis40--------
    rs2000894211,2
    C--161044838(+) TACACA/GTNNNN 1 -- int10--------
    rs1119746511,2
    C,F--161045663(+) GAGATC/TGAGAC 1 -- int12Minor allele frequency- T:0.08NA 122
    rs672124361,2
    C--161048081(+) TTATGTATT/-  
            
    TATTT
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1931340731,2
    --167536544(+) GGGTGA/TATCAC 1 -- ds50010--------
    rs1476945751,2
    --167536689(+) CTTGAA/GCCTGG 1 -- ds50010--------
    rs800560151,2
    F--167536856(+) TACCAG/AGGGAC 1 -- ds50011Minor allele frequency- A:0.01NA 120
    rs38200981,2
    C,F,H--167536862(+) GGGACG/TCTCAG 1 -- ds500116Minor allele frequency- N:0.00NA NS EA 1846
    rs1406850611,2
    C--167537061(+) ACAGAA/GTATCA 1 -- ut310--------
    rs1446367351,2
    --167537107(+) GTACAC/TGTTAG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for PVRL4 (161040781 - 161059389 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PVRL4:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv988172CNV Deletion20482838
    nsv3221CNV Loss18451855


    Human Gene Mutation Database (HGMD): PVRL4
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PVRL4
    DNA2.0 Custom Variant and Variant Library Synthesis for PVRL4

    (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: 609607   
    OMIM disorders: 613573  
    UniProtKB/Swiss-Prot: PVRL4_HUMAN, Q96NY8
  • Ectodermal dysplasia-syndactyly syndrome 1 (EDSS1) [MIM:613573]: A form of ectodermal dysplasia, a
    heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDSS1 is
    characterized by the association of hair and teeth abnormalities with cutaneous syndactyly of the hands and/or
    feet. Hair morphologic abnormalities include twists at irregular intervals (pilli torti) and swelling along the
    shafts, particularly associated with areas of breakage. Dental findings consist of abnormally widely spaced
    teeth, with peg-shaped and conical crowns. Patients have normal sweating. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 8 diseases for PVRL4:    About MalaCards
    syndactyly    ectodermal dysplasia-syndactyly syndrome 1    ectodermal dysplasia    measles
    lung cancer    ovarian cancer    endotheliitis    breast cancer

    1 disease from the University of Copenhagen DISEASES database for PVRL4:
    Syndactyly

    PVRL4 for disorders           About GeneDecksing


    Export disorders for PVRL4 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 PVRL4 gene, integrated from 9 sources (see all 26):
    (articles sorted by number of sources associating them with PVRL4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Nectin4/PRR4, a new afadin-associated member of the nectin family that trans-interacts with nectin1/PRR1 through V domain interaction. (PubMed id 11544254)1, 2, 3 Reymond N.... Lopez M. (2001)
    2. Nectin-4, a new serological breast cancer marker, is a substrate for tumor necrosis factor-alpha-converting enzyme (TACE)/ADAM-17. (PubMed id 15784625)1, 2, 9 Fabre-Lafay S.... Lopez M. (2005)
    3. Nectin-4 is a new histological and serological tumor associated marker for breast cancer. (PubMed id 17474988)1, 2, 9 Fabre-Lafay S....Lopez M. (2007)
    4. Structure of measles virus hemagglutinin bound to its epithelial receptor nectin-4. (PubMed id 23202587)1, 2 Zhang X.... Gao G.F. (2013)
    5. Adherens junction protein nectin-4 is the epithelial receptor for measles virus. (PubMed id 22048310)1, 2 Muhlebach M.D.... Cattaneo R. (2011)
    6. Mutations in PVRL4, encoding cell adhesion molecule n ectin-4, cause ectodermal dysplasia-syndactyly syndrome. (PubMed id 20691405)1, 2 Brancati F....Dallapiccola B. (2010)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. Prominent role of the Ig-like V domain in trans-interactions of nectins. Nectin3 and nectin 4 bind to the predicted C-C'-C'-D beta- strands of the nectin1 V domain. (PubMed id 12011057)1, 2 Fabre S.... Lopez M. (2002)
    9. Identification of nectin-4 oncoprotein as a diagnosti c and therapeutic target for lung cancer. (PubMed id 19679554)1, 9 Takano A....Daigo Y. (2009)
    10. Canine distemper virus with the intact C protein has t he potential to replicate in human epithelial cells by using human nectin4 as a receptor. (PubMed id 23174504)1 Otsuki N....Takeda M. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 81607 HGNC: 19688 AceView: PVRL4 Ensembl:ENSG00000143217 euGenes: HUgn81607
    ECgene: PVRL4 Kegg: 81607 H-InvDB: PVRL4

    (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 PVRL4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PVRL4 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PVRL4 gene:
    Search GeneIP for patents involving PVRL4

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



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    About This Section

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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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