Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

WDPCP Gene

protein-coding   GIFtS: 44
GCID: GC02M063349

WD Repeat Containing Planar Cell Polarity Effector

(Previous name: chromosome 2 open reading frame 86)
(Previous symbol: C2orf86)
  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
WD Repeat Containing Planar Cell Polarity Effector1 2     FRTZ2
C2orf861 2 3 5     WD Repeat-Containing And Planar Cell Polarity Effector Protein Fritz
Homolog2
BBS152 3 5     WD Repeat-Containing Protein C2orf862
FRITZ2 3     hFRTZ3
Bardet-Biedl Syndrome 15 Protein2 3     WD Repeat-Containing And Planar Cell Polarity Effector Protein3
Chromosome 2 Open Reading Frame 861     

External Ids:    HGNC: 280271   Entrez Gene: 510572   Ensembl: ENSG000001439517   OMIM: 6135805   UniProtKB: O958763   

Export aliases for WDPCP gene to outside databases


(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 WDPCP Gene:
This gene encodes a cytoplasmic WD40 repeat protein. A similar gene in frogs encodes a planar cell polarity
protein that plays a critical role in collective cell movement and ciliogenesis by mediating septin localization.
Mutations in this gene are associated with Bardet-Biedl syndrome 15 and may also play a role in Meckel-Gruber
syndrome. (provided by RefSeq, Feb 2011)

GeneCards Summary for WDPCP Gene: 
WDPCP (WD repeat containing planar cell polarity effector) is a protein-coding gene. Diseases associated with WDPCP include wdpcp-related bardet-biedl syndrome, and bardet-biedl syndrome 15.

UniProtKB/Swiss-Prot: FRITZ_HUMAN, O95876
Function: Probable effector of the planar cell polarity signaling pathway which regulates the septin cytoskeleton
in both ciliogenesis and collective cell movements (By similarity)




(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_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for WDPCP
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for WDPCP

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


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

Entrez Gene cytogenetic band: 2p15   Ensembl cytogenetic band:  2p15   HGNC cytogenetic band: 2p15

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M063349:  view genomic region     (about GC identifiers)

Start:
63,348,518 bp from pter      End:
64,054,977 bp from pter
Size:
706,460 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: FRITZ_HUMAN, O95876 (See protein sequence)
Recommended Name: WD repeat-containing and planar cell polarity effector protein fritz homolog  
Size: 746 amino acids; 85084 Da
Subcellular location: Cell membrane (By similarity). Cytoplasm, cytoskeleton, cilium axoneme (By similarity)
Caution: It is uncertain whether Met-1 or Met-34 is the initiator
Secondary accessions: Q53RW4 Q7Z2Z3
Alternative splicing: 3 isoforms:  O95876-1   O95876-2   O95876-3   

Explore the universe of human proteins at neXtProt for WDPCP: NX_O95876

Explore proteomics data for WDPCP at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O95876

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

    WDPCP Protein Expression
    REFSEQ proteins: NP_056994.3  
    ENSEMBL proteins: 
     ENSP00000386795   ENSP00000272321   ENSP00000386592   ENSP00000386769   ENSP00000381552  
     ENSP00000387222   ENSP00000411429   ENSP00000430288   ENSP00000409982   ENSP00000396226  

    Human Recombinant Protein Products for WDPCP: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for WDPCP
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for WDPCP
    GenScript Custom Purified and Recombinant Proteins Services for WDPCP
    Novus Biologicals WDPCP Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005856cytoskeleton IEA--
    GO:0005886colocalizes with plasma membrane ISS--
    GO:0005938colocalizes with cell cortex ISS--
    GO:0016324colocalizes with apical plasma membrane ISS--
    GO:0035085cilium axoneme ISS--

    WDPCP for ontologies           About GeneDecksing



    WDPCP Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for WDPCP
    GenScript Custom Superior Antibodies Services for WDPCP
    Novus Biologicals WDPCP Antibodies
    Abcam antibodies for WDPCP
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibodies for WDPCP
    LSBio Antibodies in human, mouse, rat for WDPCP 

    Assay Products for WDPCP: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for WDPCP
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for WDPCP
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR024511 DUF3312

    Graphical View of Domain Structure for InterPro Entry O95876

    ProtoNet protein and cluster: O95876

    UniProtKB/Swiss-Prot: FRITZ_HUMAN, O95876
    Similarity: Belongs to the WD repeat fritz family
    Similarity: Contains 2 WD repeats


    WDPCP 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: FRITZ_HUMAN, O95876
    Function: Probable effector of the planar cell polarity signaling pathway which regulates the septin cytoskeleton
    in both ciliogenesis and collective cell movements (By similarity)

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

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


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

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

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat WDPCP
    1 QIAGEN miScript miRNA Assays for microRNA that regulate WDPCP:
    hsa-miR-323-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for WDPCP
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat WDPCP

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for WDPCP
    Sirion Biotech Customized adenovirus for overexpression of WDPCP

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for WDPCP (see all 10)
    OriGene ORF clones in mouse, rat for WDPCP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: WDPCP (NM_015910)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for WDPCP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WDPCP
    Sirion Biotech Customized lentivirus for stable overexpression of WDPCP 
                         Customized lentivirus expression plasmids for stable overexpression of WDPCP 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for WDPCP
    Search LifeMap BioReagents cell lines for WDPCP
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WDPCP


    (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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for WDPCP

    1 Interacting protein for WDPCP (O958763) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RCHY1Q96PM53I2D: score=5 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016476regulation of embryonic cell shape ISS--
    GO:0032185septin cytoskeleton organization ISS--
    GO:0032880regulation of protein localization ISS--
    GO:0060271cilium morphogenesis ISS--

    WDPCP 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 WDPCP (FRITZ)

    Search CenterWatch for drugs/clinical trials and news about WDPCP / FRITZ

    (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 WDPCP gene (2 alternative transcripts): 
    NM_015910.5  NM_001042692.1  

    Unigene Cluster for WDPCP:

    WD repeat containing planar cell polarity effector
    Hs.414952  [show with all ESTs]
    Unigene Representative Sequence: BX647132
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409354 ENST00000272321(uc002sce.3 uc002scf.3 uc010ypu.2 uc002sch.3)
    ENST00000409199 ENST00000487280 ENST00000409120(uc002scg.3) ENST00000398544
    ENST00000409562 ENST00000409835 ENST00000417238(uc002sci.2) ENST00000462652
    ENST00000493315(uc010fcr.1) ENST00000473678 ENST00000418148 ENST00000490935
    ENST00000431065 ENST00000467687 ENST00000484073
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat WDPCP
    1 QIAGEN miScript miRNA Assays for microRNA that regulate WDPCP:
    hsa-miR-323-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for WDPCP
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat WDPCP
    Clone
    Products:
         
    OriGene clones in human, mouse for WDPCP (see all 10)
    OriGene ORF clones in mouse, rat for WDPCP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: WDPCP (NM_015910)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for WDPCP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WDPCP
    Sirion Biotech Customized lentivirus for stable overexpression of WDPCP 
                         Customized lentivirus expression plasmids for stable overexpression of WDPCP 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for WDPCP
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat WDPCP
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat WDPCP
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat WDPCP

    Additional mRNA sequence: 

    AF131737.1 AK001849.1 AK022647.1 AK055030.1 AK309028.1 AK310290.1 AL833623.1 BC093752.1 
    BC093754.1 BC143426.1 BX538331.1 BX647132.1 

    13 DOTS entries:

    DT.308953  DT.91720641  DT.95248434  DT.95366272  DT.40222722  DT.97838476  DT.100754390  DT.101981220 
    DT.91941635  DT.95366275  DT.100731062  DT.121010411  DT.121010510 

    24/61 AceView cDNA sequences (see all 61):

    BG575480 AI279372 NM_015910 AF131737 BG198790 CB153284 AL833623 AK022647 
    BE888656 AK001849 BG678095 BX472012 AA568660 BG197254 BE883073 BI086427 
    AW195576 BX538331 AA911152 CD359330 BX478657 BE541068 AW078538 BG207113 

    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

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


    WDPCP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Midbrain tegmentum
             brain/forebrain/telencephalon   
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Late Floor Plate Cells Mesencephalic Floor Plate
             Metencephalon
     
     Nose (Sensory Organs)    fully expand to see all 4 entries
             sensory organ/nose/naso-lacrimal duct   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Testis (Reproductive System)

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

    SOURCE GeneReport for Unigene cluster: Hs.414952
        SABiosciences Custom PCR Arrays for WDPCP
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for WDPCP
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat WDPCP
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat WDPCP
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat WDPCP
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WDPCP

    (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 animals.

    Orthologs for WDPCP gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Wdpcp1 , 5 WD repeat containing planar cell polarity effector1, 5 83.47(n)1
    79.78(a)1
      11 (13.90 cM)5
    2165601  NM_145425.31  NP_663400.21 
     215722355 
    chicken
    (Gallus gallus)
    Aves WDPCP1 WD repeat containing planar cell polarity effector 77.34(n)
    74.67(a)
      428553  XM_426108.3  XP_426108.3 
    lizard
    (Anolis carolinensis)
    Reptilia WDPCP6
    Uncharacterized protein
    62(a)
    1 ↔ 1
    1(120671917-120859317)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.142302 Transcribed sequence with weak similarity to protein more 76.86(n)    137716954 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003331251 WD repeat-containing protein C2orf86-like 56.74(n)
    50.25(a)
      100333125  XM_002665191.1  XP_002665237.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta frtz1 fritz 41.41(n)
    30.31(a)
      33349  NM_134770.1  NP_608614.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for WDPCP gene
    1 SIMAP similar gene for WDPCP using alignment to 6 protein entries:     FRITZ_HUMAN (see all proteins):
    LOC51057

    WDPCP 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

    10/7722 SNPs in WDPCP are shown (see all 7722)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0647704
    ----see VAR_0647702 R K mis40--------
    VAR_0647724
    ----see VAR_0647722 S F mis40--------
    VAR_0647714
    ----see VAR_0647712 L F mis40--------
    rs1435964461,2
    C--63105229(+) TGTAT-/ACACACA 1 -- int10--------
    rs1434193261,2
    C--63108875(+) TAGGG-/GTGT  
            
    GTGTG
    1 -- int10--------
    rs2007835091,2
    C--63108875(+) TAGGG-/GTGTGTG 1 -- int10--------
    rs790655831,2
    C--63112931(+) ATGGGG/TTTTTC 1 -- int11Minor allele frequency- T:0.00NA 2
    rs1903777541,2
    --63115693(+) ACACAC/TACACA 1 -- int10--------
    rs340013221,2
    C--63125805(+) AAAAA-/AGCAAA 1 -- int11Minor allele frequency- A:0.00NA 2
    rs799830191,2
    C--63171963(-) TCCACG/ACACCT 1 -- int11Minor allele frequency- A:0.50NA 2

    HapMap Linkage Disequilibrium report for WDPCP (63348518 - 63598518 bp, first 250kb of WDPCP)

    Structural Variations
         Database of Genomic Variants (DGV) 10/15 variations for WDPCP (see all 15):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2673093CNV Deletion23128226
    esv2035676CNV Deletion18987734
    esv2659646CNV Deletion23128226
    dgv705e199CNV Deletion23128226
    nsv2752CNV Insertion18451855
    esv1628034CNV Insertion17803354
    esv2479838CNV Insertion19546169
    esv1071119CNV Insertion17803354
    nsv874234CNV Loss21882294
    nsv470468CNV Loss18288195


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

    (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: 613580   
    OMIM disorders: 209900  
    UniProtKB/Swiss-Prot: FRITZ_HUMAN, O95876
  • Bardet-Biedl syndrome 15 (BBS15) [MIM:209900]: A syndrome characterized by usually severe pigmentary
    retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation.
    Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome
    inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus)
    may be required for clinical manifestation of some forms of the disease. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Note=Mutations in WDPCP may act as modifiers of the phenotypic expression of Bardet-Biedl syndrome and
    Meckel syndrome by interacting in trans with primary BBS and MKS loci

  • 10 diseases for WDPCP:    About MalaCards
    wdpcp-related bardet-biedl syndrome    bardet-biedl syndrome 15    bardet-biedl syndrome    meckel syndrome
    pigmentary retinopathy    polydactyly    mental retardation    diabetes mellitus
    obesity    hypertension


    WDPCP for disorders           About GeneDecksing


    Export disorders for WDPCP 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 WDPCP gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with WDPCP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Planar cell polarity acts through septins to control collective cell movement and ciliogenesis. (PubMed id 20671153)1, 2 Kim S.K....Wallingford J.B. (2010)
    2. The WD40 repeat protein fritz links cytoskeletal planar polarity to frizzled subcellular localization in the Drosophila epidermis. (PubMed id 15654087)1, 3 Collier S....Adler P. (2005)
    3. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)
    4. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
    5. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    6. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PubMed id 18464913)1 Melzer D....Ferrucci L. (2008)
    7. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    8. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)

    (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: 51057 HGNC: 28027 AceView: LOC51057 Ensembl:ENSG00000143951 euGenes: HUgn51057
    ECgene: WDPCP H-InvDB: WDPCP

    (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 WDPCP 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 WDPCP gene:
    Search GeneIP for patents involving WDPCP

    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)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for WDPCP  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for WDPCP  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for WDPCP  
     OriGene qSTAR qPCR primer pairs in human, mouse for WDPCP   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for WDPCP   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for WDPCP   OriGene Custom Protein Services for WDPCP  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat WDPCP
     QIAGEN SeqTarget long-range PCR primers for resequencing WDPCP
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat WDPCP
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat WDPCP
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat WDPCP
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat WDPCP
     GenScript Custom Purified and Recombinant Proteins Services for WDPCP GenScript cDNA clones with any tag delivered in your preferred vector for WDPCP
     GenScript Custom Assay Services for WDPCP GenScript Custom Superior Antibodies Services for WDPCP
     GenScript Custom overexpressing Cell Line Services for WDPCP CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Search Regulatory tfbs for WDPCP
     Search Chromatin IP Primers for WDPCP
     RT2 qPCR Primer Assay in human, mouse, rat WDPCP
     Search GNC Networks for WDPCP
     SABiosciences Custom PCR Arrays for WDPCP
     Search Tocris compounds for WDPCP (FRITZ)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     WDPCP antibodies
     WDPCP lysates
     Antibodies for WDPCP
     See all of Abcam's Antibodies, Kits and Proteins for WDPCP
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.
     Search LifeMap BioReagents cell lines for WDPCP
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WDPCP
     Browse SwitchGear 3'UTR luciferase reporter plasmids for WDPCP
     Browse SwitchGear Promoter luciferase reporter plasmids for WDPCP
     ThermoFisher Antibodies for WDPCP
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WDPCP
     inGenious Targeting Laboratory - Custom generated mouse model solutions for WDPCP
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for WDPCP
    Customized:
     lentivirus for stable overexpression of WDPCP
     lentivirus expression plasmids for stable overexpression of WDPCP
     adenovirus for overexpression of WDPCP
     LSBio Antibodies in human, mouse, rat for WDPCP
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    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 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      WDPCP gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4