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 multip... See more...

Aliases for WDPCP Gene

Aliases for WDPCP Gene

  • WD Repeat Containing Planar Cell Polarity Effector 2 3 5
  • WD Repeat-Containing And Planar Cell Polarity Effector Protein Fritz Homolog 3 4
  • Ciliogenesis And Planar Polarity Effector 5 2 3
  • Bardet-Biedl Syndrome 15 Protein 3 4
  • C2orf86 3 4
  • BBS15 3 4
  • FRITZ 3 4
  • WD Repeat-Containing And Planar Cell Polarity Effector Protein 4
  • WD Repeat-Containing Protein C2orf86 3
  • Chromosome 2 Open Reading Frame 86 2
  • CPLANE5 3
  • CHDTHP 3
  • HFRTZ 4
  • FRTZ 3

External Ids for WDPCP Gene

Previous HGNC Symbols for WDPCP Gene

  • C2orf86

Previous GeneCards Identifiers for WDPCP Gene

  • GC02M063349

Summaries for WDPCP Gene

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

GeneCards Summary for WDPCP Gene

WDPCP (WD Repeat Containing Planar Cell Polarity Effector) is a Protein Coding gene. Diseases associated with WDPCP include Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly and Bardet-Biedl Syndrome 15.

UniProtKB/Swiss-Prot Summary for WDPCP Gene

  • Probable effector of the planar cell polarity signaling pathway which regulates the septin cytoskeleton in both ciliogenesis and collective cell movements. Together with FUZ and WDPCP proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies (By similarity).

Additional gene information for WDPCP Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for WDPCP Gene

Genomics for WDPCP Gene

GeneHancer (GH) Regulatory Elements for WDPCP Gene

Promoters and enhancers for WDPCP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J063587 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 506.4 +251.4 251449 6.4 FOXK2 ZBTB40 ZNF217 EP300 TCF12 SIN3A MYC NRF1 POLR2G SP1 MDH1 WDPCP lnc-VPS54-7 VPS54 piR-53440-003 lnc-WDPCP-3
GH02J063484 Promoter/Enhancer 0.5 EPDnew Ensembl 500 +356.0 356024 0.8 WDPCP ENSG00000279485 piR-36564-007 lnc-WDPCP-3
GH02J064017 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 15.6 -178.1 -178085 3.8 ZBTB40 EP300 TCF12 NRF1 POLR2G NCOR1 PHF8 ZFX ZBTB10 POLR2A VPS54 WDPCP MDH1 ENSG00000225889 piR-54908
GH02J063819 Enhancer 1.3 Ensembl ENCODE dbSUPER 15.3 +20.5 20524 1.8 NCOR1 ZIC2 KDM6A TCF7 ZBTB25 TGIF2 ZBTB7A SMARCC2 SKI TEAD1 WDPCP UGP2 ENSG00000225889 lnc-UGP2-1 piR-58156-066 lnc-WDPCP-3
GH02J063983 Enhancer 1.1 Ensembl ENCODE 15.7 -144.5 -144476 3 EP300 FOXK2 TCF12 POLR2G NCOR1 KDM6A TCF7 FOXA1 TRIM28 ZBTB25 WDPCP MDH1 ENSG00000225889 piR-58790-002 VPS54 piR-37663-029
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WDPCP on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for WDPCP

Genomic Locations for WDPCP Gene

Genomic Locations for WDPCP Gene
chr2:63,119,559-63,840,825
(GRCh38/hg38)
Size:
721,267 bases
Orientation:
Minus strand
chr2:63,348,518-64,054,977
(GRCh37/hg19)
Size:
706,460 bases
Orientation:
Minus strand

Genomic View for WDPCP Gene

Genes around WDPCP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WDPCP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WDPCP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WDPCP Gene

Proteins for WDPCP Gene

  • Protein details for WDPCP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95876-FRITZ_HUMAN
    Recommended name:
    WD repeat-containing and planar cell polarity effector protein fritz homolog
    Protein Accession:
    O95876
    Secondary Accessions:
    • Q53RW4
    • Q7Z2Z3

    Protein attributes for WDPCP Gene

    Size:
    746 amino acids
    Molecular mass:
    85084 Da
    Quaternary structure:
    • Interacts with CPLANE1. Interacts with INTU and FUZ; FUZ, INTU and WDPCP probably form the core CPLANE (ciliogenesis and planar polarity effectors) complex.

    Alternative splice isoforms for WDPCP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WDPCP Gene

Post-translational modifications for WDPCP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for WDPCP Gene

Domains & Families for WDPCP Gene

Gene Families for WDPCP Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for WDPCP Gene

Suggested Antigen Peptide Sequences for WDPCP Gene

GenScript: Design optimal peptide antigens:
  • WD repeat-containing and planar cell polarity effector protein (FRITZ_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95876

UniProtKB/Swiss-Prot:

FRITZ_HUMAN :
  • Belongs to the WD repeat fritz family.
Family:
  • Belongs to the WD repeat fritz family.
genes like me logo Genes that share domains with WDPCP: view

Function for WDPCP Gene

Molecular function for WDPCP Gene

UniProtKB/Swiss-Prot Function:
Probable effector of the planar cell polarity signaling pathway which regulates the septin cytoskeleton in both ciliogenesis and collective cell movements. Together with FUZ and WDPCP proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies (By similarity).

Phenotypes From GWAS Catalog for WDPCP Gene

Gene Ontology (GO) - Molecular Function for WDPCP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with WDPCP: view
genes like me logo Genes that share phenotypes with WDPCP: view

Human Phenotype Ontology for WDPCP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for WDPCP Gene

MGI Knock Outs for WDPCP:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WDPCP

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for WDPCP Gene

Localization for WDPCP Gene

Subcellular locations from UniProtKB/Swiss-Prot for WDPCP Gene

Cell membrane. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WDPCP gene
Compartment Confidence
cytoskeleton 4
plasma membrane 3
nucleus 2
cytosol 2
extracellular 1
endosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for WDPCP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 colocalizes_with plasma membrane ISS --
GO:0005929 cilium IEA --
GO:0005930 axoneme ISS --
genes like me logo Genes that share ontologies with WDPCP: view

Pathways & Interactions for WDPCP Gene

PathCards logo

SuperPathways for WDPCP Gene

No Data Available

Gene Ontology (GO) - Biological Process for WDPCP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development IEA --
GO:0002093 auditory receptor cell morphogenesis IEA --
GO:0007224 smoothened signaling pathway IEA --
GO:0007399 nervous system development IEA --
GO:0010762 regulation of fibroblast migration IEA --
genes like me logo Genes that share ontologies with WDPCP: view

No data available for Pathways by source and SIGNOR curated interactions for WDPCP Gene

Drugs & Compounds for WDPCP Gene

No Compound Related Data Available

Transcripts for WDPCP Gene

mRNA/cDNA for WDPCP Gene

4 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WDPCP

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for WDPCP Gene

No ASD Table

Relevant External Links for WDPCP Gene

GeneLoc Exon Structure for
WDPCP

Expression for WDPCP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for WDPCP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for WDPCP Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for WDPCP Gene



Protein tissue co-expression partners for WDPCP Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for WDPCP

SOURCE GeneReport for Unigene cluster for WDPCP Gene:

Hs.414952

Evidence on tissue expression from TISSUES for WDPCP Gene

  • Nervous system(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for WDPCP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pituitary gland
  • skull
  • tongue
  • tooth
Thorax:
  • aorta
  • breast
  • bronchus
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • adrenal gland
  • biliary tract
  • duodenum
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • placenta
  • prostate
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with WDPCP: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for WDPCP Gene

Orthologs for WDPCP Gene

This gene was present in the common ancestor of animals.

Orthologs for WDPCP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WDPCP 31 30
  • 99.64 (n)
OneToOne
cow
(Bos Taurus)
Mammalia WDPCP 31 30
  • 90.17 (n)
OneToOne
dog
(Canis familiaris)
Mammalia WDPCP 31 30
  • 90.02 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wdpcp 30
  • 83.71 (n)
mouse
(Mus musculus)
Mammalia Wdpcp 17 31 30
  • 83.52 (n)
oppossum
(Monodelphis domestica)
Mammalia WDPCP 31
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WDPCP 31
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves WDPCP 31 30
  • 75.6 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WDPCP 31
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdpcp 30
  • 68.65 (n)
Str.14230 30
zebrafish
(Danio rerio)
Actinopterygii LOC100333125 30
  • 54.56 (n)
wdpcp 31
  • 44 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002252 30
  • 47.41 (n)
fruit fly
(Drosophila melanogaster)
Insecta frtz 31 30
  • 42.11 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 42 (a)
OneToMany
-- 31
  • 36 (a)
OneToMany
Species where no ortholog for WDPCP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for WDPCP Gene

ENSEMBL:
Gene Tree for WDPCP (if available)
TreeFam:
Gene Tree for WDPCP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for WDPCP: view image

Paralogs for WDPCP Gene

(1) SIMAP similar genes for WDPCP Gene using alignment to 6 proteins:

  • FRITZ_HUMAN
  • C9JDS5_HUMAN
  • E9PFG9_HUMAN
  • F8WBT2_HUMAN
  • H7BZ13_HUMAN
  • H7C375_HUMAN
genes like me logo Genes that share paralogs with WDPCP: view

No data available for Paralogs for WDPCP Gene

Variants for WDPCP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for WDPCP Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
577208 Uncertain Significance: Bardet-Biedl syndrome 63,404,605(-) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
591518 Uncertain Significance: not provided 63,174,834(-) T/C SPLICE_ACCEPTOR_VARIANT
596732 Likely Benign: not specified 63,439,871(-) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
596735 Likely Benign: not specified 63,439,873(-) TA/T INTRON_VARIANT
662878 Uncertain Significance: Bardet-Biedl syndrome 63,404,317(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for WDPCP Gene

Structural Variations from Database of Genomic Variants (DGV) for WDPCP Gene

Variant ID Type Subtype PubMed ID
dgv3860n100 CNV loss 25217958
dgv705e199 CNV deletion 23128226
esv1071119 CNV insertion 17803354
esv1628034 CNV insertion 17803354
esv2035676 CNV deletion 18987734
esv2479838 CNV insertion 19546169
esv2659646 CNV deletion 23128226
esv2673093 CNV deletion 23128226
esv274907 CNV gain+loss 21479260
esv3386938 CNV insertion 20981092
esv3591050 CNV loss 21293372
esv3591051 CNV loss 21293372
esv3591052 CNV loss 21293372
esv3591053 CNV loss 21293372
esv3591056 CNV loss 21293372
esv3591058 CNV loss 21293372
esv3591059 CNV loss 21293372
nsv1002047 CNV loss 25217958
nsv1004678 CNV loss 25217958
nsv1009191 CNV loss 25217958
nsv2752 CNV insertion 18451855
nsv470468 CNV loss 18288195
nsv477771 CNV novel sequence insertion 20440878
nsv582126 CNV gain 21841781
nsv7313 OTHER inversion 18451855
nsv819228 CNV loss 19587683
nsv834241 CNV gain 17160897
nsv954155 CNV deletion 24416366

Variation tolerance for WDPCP Gene

Residual Variation Intolerance Score: 72.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.56; 55.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for WDPCP Gene

Human Gene Mutation Database (HGMD)
WDPCP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WDPCP

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WDPCP Gene

Disorders for WDPCP Gene

MalaCards: The human disease database

(31) MalaCards diseases for WDPCP Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search WDPCP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FRITZ_HUMAN
  • Bardet-Biedl syndrome 15 (BBS15) [MIM:615992]: 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. {ECO:0000269 PubMed:20671153}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Congenital heart defects, hamartomas of tongue, and polysyndactyly (CHDTHP) [MIM:217085]: A disease characterized by a constellation of anomalies including tongue hamartomas, polysyndactyly, and congenital heart defects such as atrioventricular canal and coarctation of the aorta. {ECO:0000269 PubMed:25427950, ECO:0000269 PubMed:27158779}. 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. {ECO:0000269 PubMed:20671153}.

Additional Disease Information for WDPCP

genes like me logo Genes that share disorders with WDPCP: view

No data available for Genatlas for WDPCP Gene

Publications for WDPCP Gene

  1. Planar cell polarity acts through septins to control collective cell movement and ciliogenesis. (PMID: 20671153) Kim SK … Wallingford JB (Science (New York, N.Y.) 2010) 2 3 4 54
  2. The WD40 repeat protein fritz links cytoskeletal planar polarity to frizzled subcellular localization in the Drosophila epidermis. (PMID: 15654087) Collier S … Adler P (Genetics 2005) 2 3 54
  3. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. (PMID: 28289185) Bruel AL … Thauvin-Robinet C (Journal of medical genetics 2017) 3 54
  4. WDPCP regulates the ciliogenesis of human sinonasal epithelial cells in chronic rhinosinusitis. (PMID: 28001338) Ma Y … Shi J (Cytoskeleton (Hoboken, N.J.) 2017) 3 54
  5. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3 54

Products for WDPCP Gene

Sources for WDPCP Gene