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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 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.

No data available for 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

Promoters for WDPCP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around WDPCP on UCSC Golden Path with GeneCards custom track

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:
    No Data Available

    Alternative splice isoforms for WDPCP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WDPCP Gene

Proteomics data for WDPCP Gene at MOPED

Post-translational modifications for WDPCP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

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

InterPro:
ProtoNet:

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.
  • Contains 2 WD repeats.
Family:
  • Belongs to the WD repeat fritz family.
Similarity:
  • Contains 2 WD repeats.
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.
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

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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for WDPCP Gene COMPARTMENTS Subcellular localization image for WDPCP gene
Compartment Confidence
cytoskeleton 4
plasma membrane 3
cytosol 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for WDPCP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016324 colocalizes_with apical plasma membrane 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

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000272321%0d%0a9606.ENSP00000353157%0d%0a9606.ENSP00000381992%0d%0a
Selected Interacting proteins: ENSP00000272321 O95876-FRITZ_HUMAN for WDPCP Gene via STRING I2D

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:0010762 regulation of fibroblast migration IEA --
GO:0016476 regulation of embryonic cell shape ISS --
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:

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 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



SOURCE GeneReport for Unigene cluster for WDPCP Gene Hs.414952

genes like me logo Genes that share expression patterns with WDPCP: view

Protein tissue co-expression partners for WDPCP Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia WDPCP 35
  • 90.17 (n)
  • 88.49 (a)
WDPCP 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia WDPCP 35
  • 90.02 (n)
  • 88.57 (a)
WDPCP 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Wdpcp 35
  • 83.52 (n)
  • 79.78 (a)
Wdpcp 16
Wdpcp 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia WDPCP 35
  • 99.64 (n)
  • 99.6 (a)
WDPCP 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wdpcp 35
  • 83.71 (n)
  • 79.35 (a)
oppossum
(Monodelphis domestica)
Mammalia WDPCP 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WDPCP 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves WDPCP 35
  • 75.6 (n)
  • 72.57 (a)
WDPCP 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WDPCP 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.14230 35
wdpcp 35
  • 68.65 (n)
  • 63.79 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100333125 35
  • 54.56 (n)
  • 46.45 (a)
wdpcp 36
  • 44 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002252 35
  • 47.41 (n)
  • 36.92 (a)
fruit fly
(Drosophila melanogaster)
Insecta frtz 35
  • 42.11 (n)
  • 31.11 (a)
frtz 36
  • 20 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
OneToMany
-- 36
  • 36 (a)
OneToMany
Species with no ortholog for WDPCP:
  • 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
rs17617459 - 63,433,768(+) ATAAC(C/T)CAGGA nc-transcript-variant, reference, missense
VAR_064770 -
VAR_064771 -
VAR_064772 -
VAR_073251 Congenital heart defects, hamartomas of tongue, and polysyndactyly (CHDTHP)

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

Variant ID Type Subtype PubMed ID
nsv7313 OTHER Inversion 18451855
nsv470468 CNV Loss 18288195
nsv834241 CNV Gain 17160897
dgv705e199 CNV Deletion 23128226
esv274907 CNV Gain+Loss 21479260
esv2673093 CNV Deletion 23128226
nsv874234 CNV Loss 21882294
nsv874235 CNV Loss 21882294
nsv819228 CNV Loss 19587683
esv2659646 CNV Deletion 23128226
nsv2752 CNV Insertion 18451855
esv2479838 CNV Insertion 19546169
esv1628034 CNV Insertion 17803354
esv2035676 CNV Deletion 18987734
esv1071119 CNV Insertion 17803354

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

HapMap Linkage Disequilibrium report
WDPCP
Human Gene Mutation Database (HGMD)
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
  • orstavik lindemann solberg syndrome
bardet-biedl syndrome 15
  • bbs15
bardet-biedl syndrome
  • laurence-moon syndrome
heart defect, tongue hamartoma and polysyndactyly
  • heart defect-tongue hamartoma-polysyndactyly syndrome
wdpcp-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}. 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 67
  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
  3. Differentiating AlstrAPm from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing. (PMID: 22004009) Aliferis K. … Dollfus H. (Ophthalmic Genet. 2012) 3
  4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3
  5. Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. (PMID: 21642631) Chen J. … Hejtmancik J.F. (Invest. Ophthalmol. Vis. Sci. 2011) 3

Products for WDPCP Gene

Sources for WDPCP Gene

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