U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
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)

Go to the top of the page Help

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_001042692.3 → 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

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous