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

    Gene ID: 51057, updated on 11-Jun-2021

    Summary

    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
    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
    NEW
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    Genomic context

    See WDPCP in Genome Data Viewer
    Location:
    2p15
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (63119559..63588733, complement)
    105.20201022 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 uncharacterized LOC107985769 Neighboring gene MTFR2 pseudogene 1 Neighboring gene PRELID1 pseudogene 6 Neighboring gene malate dehydrogenase 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study identifies protein quantitative trait loci (pQTLs).
    GeneReviews: Not available
    Bardet-Biedl syndrome 15
    MedGen: C3150127 OMIM: 615992 GeneReviews: Bardet-Biedl Syndrome Overview
    Compare labs
    Congenital heart defects, hamartomas of tongue, and polysyndactyly
    MedGen: C1857587 OMIM: 217085 GeneReviews: Not available
    Compare labs
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    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 protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in glomerular visceral epithelial cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    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
    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
    PubMed 
    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
     
    colocalizes_with plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001042692.3NP_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/Swiss-Prot
      O95876
      Related
      ENSP00000381552.3, ENST00000398544.7
      Conserved Domains (2) summary
      pfam11768
      Location:8463
      DUF3312; Protein of unknown function (DUF3312)
      sd00039
      Location:182217
      7WD40; WD40 repeat [structural motif]
    2. NM_001354044.2NP_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:55598
      Frtz; WD repeat-containing and planar cell polarity effector protein Fritz
    3. NM_001354045.2NP_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:79586
      Frtz; WD repeat-containing and planar cell polarity effector protein Fritz
    4. NM_015910.7NP_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
      Related
      ENSP00000272321.7, ENST00000272321.12
      Conserved Domains (1) summary
      pfam11768
      Location:79622
      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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      63119559..63588733 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005264348.4XP_005264405.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X1

      Conserved Domains (1) summary
      pfam11768
      Location:79622
      DUF3312; Protein of unknown function (DUF3312)
    2. XM_011532881.3XP_011531183.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X2

      Conserved Domains (1) summary
      pfam11768
      Location:55598
      DUF3312; Protein of unknown function (DUF3312)
    3. XM_011532887.3XP_011531189.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X4

      Conserved Domains (1) summary
      pfam11768
      Location:79622
      DUF3312; Protein of unknown function (DUF3312)
    4. XM_017004254.2XP_016859743.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X6

      Related
      ENSP00000387222.3, ENST00000409562.7
    5. XM_011532884.3XP_011531186.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X3

      Conserved Domains (1) summary
      pfam11768
      Location:79622
      DUF3312; Protein of unknown function (DUF3312)
    6. XM_017004253.2XP_016859742.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X5

    7. XM_011532890.3XP_011531192.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X7

      Conserved Domains (1) summary
      pfam11768
      Location:79582
      DUF3312; Protein of unknown function (DUF3312)
    8. XM_011532891.2XP_011531193.1  WD repeat-containing and planar cell polarity effector protein fritz homolog isoform X8

      Conserved Domains (1) summary
      pfam11768
      Location:55558
      DUF3312; Protein of unknown function (DUF3312)

    RNA

    1. XR_244934.3 RNA Sequence

    2. XR_001738760.2 RNA Sequence

    3. XR_001738759.2 RNA Sequence

    4. XR_002959303.1 RNA Sequence

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