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Aliases for WDPCP Gene

Aliases for WDPCP Gene

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

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WDPCP Gene

Genomics for WDPCP Gene

Regulatory Elements for WDPCP Gene

Enhancers for WDPCP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G063819 1.5 Ensembl ENCODE dbSUPER 15.2 +20.6 20625 1.2 FOXA2 ATF1 MLX ZFP64 ARID4B DMAP1 ZNF48 YY1 SLC30A9 MXD4 WDPCP UGP2 GC02M063810 GC02M063754
GH02G063983 1.3 Ensembl ENCODE 15.7 -144.4 -144369 2.8 PKNOX1 FOXA2 MLX ZFP64 ARID4B DMAP1 YY1 SLC30A9 ZNF766 ZNF207 WDPCP SERTAD2 GC02M064016 PIR48907 GC02M063913
GH02G063788 1.3 FANTOM5 Ensembl ENCODE dbSUPER 14.8 +52.5 52541 0.3 JUND CEBPB NR3C1 FOS WDPCP PELI1 UGP2 GC02M063754 GC02M063810
GH02G063852 1.3 Ensembl ENCODE dbSUPER 14.7 -13.7 -13710 5.1 ATF1 ARNT NFRKB ZFP64 RAD21 TCF12 ZEB2 ZNF592 RAD51 SMARCA4 WDPCP UGP2 MDH1 ENSG00000251775
GH02G064017 1.1 ENCODE 15.5 -178.3 -178297 3.4 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 WDPCP VPS54 ENSG00000228079
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around WDPCP on UCSC Golden Path with GeneCards custom track

Promoters for WDPCP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000291221 -1375 3601 MLX CREB3L1 AGO1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC

Genomic Location for WDPCP Gene

Chromosome:
2
Start:
63,120,762 bp from pter
End:
63,840,825 bp from pter
Size:
720,064 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 C5orf42/JBTS17. 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

Protein Domains for WDPCP Gene

Suggested Antigen Peptide Sequences for WDPCP Gene

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).
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

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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 5
plasma membrane 3
nucleus 2
cytosol 2
peroxisome 1

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

SuperPathways for WDPCP Gene

No Data Available

Interacting Proteins for WDPCP Gene

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

Unigene Clusters for WDPCP Gene

WD repeat containing planar cell polarity effector:
Representative Sequences:

Inhibitory RNA 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
ECgene alternative splicing isoforms for
WDPCP

Expression for WDPCP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for WDPCP Gene



Protein tissue co-expression partners for WDPCP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of WDPCP Gene:

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
Organs:
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

Primer Products

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 34 35
  • 99.64 (n)
cow
(Bos Taurus)
Mammalia WDPCP 34 35
  • 90.17 (n)
dog
(Canis familiaris)
Mammalia WDPCP 34 35
  • 90.02 (n)
rat
(Rattus norvegicus)
Mammalia Wdpcp 34
  • 83.71 (n)
mouse
(Mus musculus)
Mammalia Wdpcp 34 16 35
  • 83.52 (n)
oppossum
(Monodelphis domestica)
Mammalia WDPCP 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WDPCP 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves WDPCP 34 35
  • 75.6 (n)
lizard
(Anolis carolinensis)
Reptilia WDPCP 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdpcp 34
  • 68.65 (n)
Str.14230 34
zebrafish
(Danio rerio)
Actinopterygii LOC100333125 34
  • 54.56 (n)
wdpcp 35
  • 44 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002252 34
  • 47.41 (n)
fruit fly
(Drosophila melanogaster)
Insecta frtz 34 35
  • 42.11 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 42 (a)
OneToMany
-- 35
  • 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)

Paralogs for WDPCP Gene

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

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 from dbSNP and Humsavar for WDPCP Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs200322968 Pathogenic, Congenital heart defects, hamartomas of tongue, and polysyndactyly (CHDTHP) [MIM:217085] 63,492,856(+) TTTAC(C/T)CGCAA nc-transcript-variant, reference, missense
rs397704728 Pathogenic 63,492,941(-) AAACA(G/T)GATAG splice-acceptor-variant
rs727503781 Pathogenic 63,437,501(-) AAACT(-/AT)GTTTT nc-transcript-variant, reference, frameshift-variant
rs17617459 Likely benign 63,433,768(+) ATAAC(C/T)CAGGA nc-transcript-variant, reference, missense
rs186575824 Likely benign 63,439,737(+) TTGAT(C/T)TGCAC intron-variant, upstream-variant-2KB

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)

Relevant External Links for WDPCP Gene

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

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

Disorders for WDPCP Gene

MalaCards: The human disease database

(8) MalaCards diseases for WDPCP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
congenital heart defects, hamartomas of tongue, and polysyndactyly
  • heart defect-tongue hamartoma-polysyndactyly syndrome
bardet-biedl syndrome 15
  • bbs15
bardet-biedl syndrome
  • biedl-bardet syndrome
wdpcp-related bardet-biedl syndrome
  • bardet-biedl syndrome 15
c2orf86-related bardet-biedl syndrome
  • bardet-biedl syndrome 15
- 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}.

Relevant External Links for WDPCP

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 S.K. … Wallingford J.B. (Science 2010) 2 3 4 64
  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 64
  3. The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. (PMID: 27158779) Toriyama M. … Wallingford J.B. (Nat. Genet. 2016) 4 64
  4. Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity-ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas. (PMID: 25427950) Saari J. … Bellus G.A. (Am. J. Med. Genet. A 2015) 4 64
  5. Differentiating AlstrAPm from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing. (PMID: 22004009) Aliferis K. … Dollfus H. (Ophthalmic Genet. 2012) 3 64

Products for WDPCP Gene

Sources for WDPCP Gene

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