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    WDPCP WD repeat containing planar cell polarity effector [ Homo sapiens (human) ]

    Gene ID: 51057, updated on 3-Apr-2024

    Summary

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    Official Symbol
    WDPCPprovided by HGNC
    Official Full Name
    WD repeat containing planar cell polarity effectorprovided by HGNC
    Primary source
    HGNC:HGNC:28027
    See related
    Ensembl:ENSG00000143951 MIM:613580; AllianceGenome:HGNC:28027
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FRTZ; BBS15; FRITZ; CHDTHP; C2orf86; CPLANE5
    Summary
    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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2p15
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (63119559..63840826, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (63126634..63848517, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (63346694..63815611, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L27 pseudogene 5 Neighboring gene diazepam binding inhibitor-like 5 pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:63412715-63413216 Neighboring gene uncharacterized LOC107985769 Neighboring gene MPRA-validated peak3728 silencer Neighboring gene MTFR2 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:63551225-63551800 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:63550648-63551224 Neighboring gene NANOG hESC enhancer GRCh37_chr2:63562934-63563435 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15876 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:63814776-63815296 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15877 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:63841564-63842426 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:63842427-63843289 Neighboring gene MPRA-validated peak3729 silencer Neighboring gene PRELID1 pseudogene 6 Neighboring gene NANOG hESC enhancer GRCh37_chr2:63895371-63895872 Neighboring gene malate dehydrogenase 1 Neighboring gene ribosomal protein S4X pseudogene 5 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:63973523-63974174 Neighboring gene ribosomal protein L27 pseudogene 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:63992494-63993309 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 66 Neighboring gene NANOG hESC enhancer GRCh37_chr2:64007601-64008102 Neighboring gene CS pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15878 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11543 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15879 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:64074440-64075220 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:64076001-64076780 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:64076781-64077560 Neighboring gene Sharpr-MPRA regulatory region 3928 Neighboring gene Sharpr-MPRA regulatory region 742 Neighboring gene UDP-glucose pyrophosphorylase 2 Neighboring gene VPS54 subunit of GARP complex Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11544

    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. WDPCP regulates the ciliogenesis of human sinonasal epithelial cells in chronic rhinosinusitis. Ma Y, et al. Cytoskeleton (Hoboken), 2017 Feb. PMID 28001338
    2. Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing. Aliferis K, et al. Ophthalmic Genet, 2012 Mar. PMID 22004009
    3. Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. Chen J, et al. Invest Ophthalmol Vis Sci, 2011 Jul 18. PMID 21642631, Free PMC Article
    4. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. Bruel AL, et al. J Med Genet, 2017 Jun. PMID 28289185, Free PMC Article
    5. Planar cell polarity acts through septins to control collective cell movement and ciliogenesis. Kim SK, et al. Science, 2010 Sep 10. PMID 20671153, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Evidence for involvement of the alcohol consumption WDPCP gene in lipid metabolism, and liver cirrhosis.
      Title: Evidence for involvement of the alcohol consumption WDPCP gene in lipid metabolism, and liver cirrhosis.
    2. Inflammatory cytokines cause reduced WDPCP expression, which contributes to impaired ciliogenesis in human rhinosinusitis.
      Title: WDPCP regulates the ciliogenesis of human sinonasal epithelial cells in chronic rhinosinusitis.
    3. study linked mutations in Fritz to Bardet-Biedl and Meckel-Gruber syndromes, a notable link given that other genes mutated in these syndromes also influence collective cell movement and ciliogenesis
      Title: Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.
    4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    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

    Associated conditions

    Description Tests
    Bardet-Biedl syndrome 15
    MedGen: C3150127 OMIM: 615992 GeneReviews: Bardet-Biedl Syndrome Overview
    		Compare labs
    Heart defect - tongue hamartoma - polysyndactyly syndrome
    MedGen: C1857587 OMIM: 217085 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies protein quantitative trait loci (pQTLs).
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp686C12204

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in auditory receptor cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in camera-type eye development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cilium organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in circulatory system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in digestive system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in embryonic digit morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in establishment of planar polarity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in establishment of protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intraciliary transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in kidney development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neural tube development NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in podocyte cell migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cilium assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of embryonic cell shape ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of establishment of cell polarity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of fibroblast migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of focal adhesion assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of protein localization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of ruffle assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in respiratory system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in roof of mouth development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in septin cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in tongue morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    colocalizes_with apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in axonemal basal plate IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    colocalizes_with cell cortex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cilium NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    colocalizes_with plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    WD repeat-containing and planar cell polarity effector protein fritz homolog
    Names
    Bardet-Biedl syndrome 15 protein
    WD repeat-containing protein C2orf86
    ciliogenesis and planar polarity effector 5
    ciliogenesis and planar polarity effector complex subunit 5

    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.

    Genomic

    1. NG_028144.2 RefSeqGene

      Range
      257349..726267
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001042692.3 → NP_001036157.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform 1

      See identical proteins and their annotated locations for NP_001036157.1

      Status: REVIEWED

      Source sequence(s)
      AC009501, AF131737, AL833623, BM991121
      Consensus CDS
      CCDS46301.1
      UniProtKB/TrEMBL
      E9PFG9
      Related
      ENSP00000381552.3, ENST00000398544.7
      Conserved Domains (2) summary
      pfam11768
      Location:8 → 463
      DUF3312; Protein of unknown function (DUF3312)
      sd00039
      Location:182 → 217
      7WD40; WD40 repeat [structural motif]

    2. NM_001354044.2 → NP_001340973.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC009501, AC016734, AC067953, AC074367, AC079353, BM991121
      Conserved Domains (1) summary
      pfam11768
      Location:55 → 598
      Frtz; WD repeat-containing and planar cell polarity effector protein Fritz

    3. NM_001354045.2 → NP_001340974.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC016734, AC079353, AK310290, BM997588
      Related
      ENST00000409835.5
      Conserved Domains (1) summary
      pfam11768
      Location:79 → 586
      Frtz; WD repeat-containing and planar cell polarity effector protein Fritz

    4. NM_015910.7 → NP_056994.3  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform 2

      See identical proteins and their annotated locations for NP_056994.3

      Status: REVIEWED

      Source sequence(s)
      AC009501, AC016734, AC079353, AL833623, BM991121
      Consensus CDS
      CCDS42688.1
      UniProtKB/Swiss-Prot
      O95876, Q53RW4, Q7Z2Z3
      Related
      ENSP00000272321.7, ENST00000272321.12
      Conserved Domains (1) summary
      pfam11768
      Location:79 → 622
      DUF3312; Protein of unknown function (DUF3312)

    RNA

    1. NR_122106.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC009501, AF131737, AL833623, BC143426, BM991121

    2. NR_148704.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC009501, AC016734, AC067953, AC074367, AC079353, BM991121

    3. NR_148705.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC009501, AC016734, AC067953, AC074367, AC079353, BM991121

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      63119559..63840826 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047444629.1 → XP_047300585.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2

    2. XM_047444631.1 → XP_047300587.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X4

    3. XM_047444627.1 → XP_047300583.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2

    4. XM_047444626.1 → XP_047300582.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2

    5. XM_047444628.1 → XP_047300584.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2

    6. XM_005264348.5 → XP_005264405.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X1

      Conserved Domains (1) summary
      pfam11768
      Location:79 → 622
      DUF3312; Protein of unknown function (DUF3312)

    7. XM_011532881.4 → XP_011531183.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2

      Conserved Domains (1) summary
      pfam11768
      Location:55 → 598
      DUF3312; Protein of unknown function (DUF3312)

    8. XM_047444630.1 → XP_047300586.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X3

    9. XM_047444633.1 → XP_047300589.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X8

    10. XM_047444632.1 → XP_047300588.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X6

    11. XM_011532887.4 → XP_011531189.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X7

      Related
      ENSP00000387222.3, ENST00000409562.7
      Conserved Domains (1) summary
      pfam11768
      Location:79 → 622
      DUF3312; Protein of unknown function (DUF3312)

    12. XM_011532884.4 → XP_011531186.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X5

      Conserved Domains (1) summary
      pfam11768
      Location:79 → 622
      DUF3312; Protein of unknown function (DUF3312)

    13. XM_017004253.3 → XP_016859742.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X9

    14. XM_011532890.4 → XP_011531192.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X10

      Conserved Domains (1) summary
      pfam11768
      Location:79 → 582
      DUF3312; Protein of unknown function (DUF3312)

    15. XM_047444634.1 → XP_047300590.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X11

    RNA

    1. XR_007076380.1 RNA Sequence

    2. XR_007076379.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      63126634..63848517 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342378.1 → XP_054198353.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2

    2. XM_054342380.1 → XP_054198355.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X4

    3. XM_054342376.1 → XP_054198351.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2

    4. XM_054342375.1 → XP_054198350.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X1

    5. XM_054342377.1 → XP_054198352.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2

    6. XM_054342379.1 → XP_054198354.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X3

    7. XM_054342384.1 → XP_054198359.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X8

    8. XM_054342382.1 → XP_054198357.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X6

    9. XM_054342383.1 → XP_054198358.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X7

    10. XM_054342381.1 → XP_054198356.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X5

    11. XM_054342385.1 → XP_054198360.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X9

    12. XM_054342387.1 → XP_054198362.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X10

    13. XM_054342386.1 → XP_054198361.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X12

    14. XM_054342388.1 → XP_054198363.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X11

    RNA

    1. XR_008486384.1 RNA Sequence

    2. XR_008486383.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95876.2 GenPept UniProtKB/Swiss-Prot:O95876

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