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Aliases for WDPCP Gene

Aliases for WDPCP Gene

  • WD Repeat Containing Planar Cell Polarity Effector 2 3
  • C2orf86 3 4 6
  • BBS15 3 4 6
  • Bardet-Biedl Syndrome 15 Protein 3 4
  • FRITZ 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 Symbols for WDPCP Gene

  • C2orf86

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 bardet-biedl syndrome 15 and wdpcp-related bardet-biedl syndrome.

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

Genomic Location for WDPCP Gene

Start:
63,121,383 bp from pter
End:
63,827,843 bp from pter
Size:
706,461 bases
Orientation:
Minus strand

Genomic View for WDPCP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for WDPCP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WDPCP Gene

No data available for Regulatory Elements 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

No data available for DME Specific Peptides for WDPCP Gene

Domains for WDPCP Gene

Protein Domains for WDPCP Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

FRITZ_HUMAN
Family:
  • Belongs to the WD repeat fritz family.:
    • O95876
Similarity:
  • Contains 2 WD repeats.:
    • O95876
genes like me logo Genes that share domains with WDPCP: view

No data available for Gene Families for WDPCP Gene

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.

Gene Ontology (GO) - Molecular Function for WDPCP Gene

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

Animal Models for WDPCP Gene

MGI Knock Outs for WDPCP:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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.

Gene Ontology (GO) - Cellular Components for WDPCP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005856 cytoskeleton IEA --
GO:0005886 colocalizes_with plasma membrane ISS --
GO:0005930 axoneme ISS --
GO:0005938 colocalizes_with cell cortex ISS --
GO:0016324 colocalizes_with apical plasma membrane ISS --
genes like me logo Genes that share ontologies with WDPCP: view

Pathways 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:0007399 nervous system development --
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 for WDPCP Gene

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

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for WDPCP Gene

SOURCE GeneReport for Unigene cluster for WDPCP Gene Hs.414952

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

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 36
  • 99.64 (n)
  • 99.6 (a)
WDPCP 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia WDPCP 36
  • 90.17 (n)
  • 88.49 (a)
WDPCP 37
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia WDPCP 36
  • 90.02 (n)
  • 88.57 (a)
WDPCP 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Wdpcp 36
  • 83.52 (n)
  • 79.78 (a)
Wdpcp 16
Wdpcp 37
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia WDPCP 37
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WDPCP 37
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wdpcp 36
  • 83.71 (n)
  • 79.35 (a)
chicken
(Gallus gallus)
Aves WDPCP 36
  • 75.6 (n)
  • 72.57 (a)
WDPCP 37
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WDPCP 37
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.14230 36
wdpcp 36
  • 68.65 (n)
  • 63.79 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100333125 36
  • 54.56 (n)
  • 46.45 (a)
wdpcp 37
  • 44 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002252 36
  • 47.41 (n)
  • 36.92 (a)
fruit fly
(Drosophila melanogaster)
Insecta frtz 36
  • 42.11 (n)
  • 31.11 (a)
frtz 37
  • 20 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 42 (a)
OneToMany
-- 37
  • 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

Selected 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 MAF
rs720848 -- 63,503,811(-) GTTTA(A/G)ATAAA intron-variant
rs727513 -- 63,577,105(+) TTTTA(G/T)ATGCA intron-variant
rs908621 -- 63,378,907(-) TTTCA(A/G)TTCCC intron-variant
rs908622 -- 63,352,550(+) CTGAA(C/T)CATGG intron-variant
rs932171 -- 63,375,807(-) AAATA(C/T)TACAT intron-variant

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

Relevant External Links for WDPCP Gene

HapMap Linkage Disequilibrium report
WDPCP
Human Gene Mutation Database (HGMD)
WDPCP

Disorders for WDPCP Gene

(1) OMIM Diseases for WDPCP Gene (613580)

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

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
  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. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PMID: 18464913) Melzer D. … Ferrucci L. (PLoS Genet. 2008) 3
  4. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PMID: 19913121) Talmud P.J. … . (Am. J. Hum. Genet. 2009) 3
  5. Bardet-Biedl Syndrome (PMID: 20301537) Pagon R.A. … Stephens K. ( 1993) 3

Products for WDPCP Gene

Sources for WDPCP Gene

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