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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
External Ids for WDPCP Gene
- HGNC: 28027
- Entrez Gene: 51057
- Ensembl: ENSG00000143951
- OMIM: 613580
- UniProtKB: O95876
Previous HGNC Symbols for WDPCP Gene
- C2orf86
Previous GeneCards Identifiers for WDPCP Gene
- GC02M063349
Summaries 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
- HGNC(28027)
- Entrez Gene(51057)
- Ensembl(ENSG00000143951)
- OMIM(613580)
- UniProtKB(O95876)
- Open Targets Platform(ENSG00000143951)
- Monarch Initiative
- Search for WDPCP at DataMed
- Search for WDPCP at HumanCyc
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 Pubs
Promoters and enhancers for WDPCP Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for WDPCP
Genomic Locations for WDPCP Gene
Genomic Locations for WDPCP Gene
- chr2:63,119,559-63,827,843
- (GRCh38/hg38)
- Size:
- 708,285 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:
-
- 2p15 by HGNC
- 2p15 by Entrez Gene
- 2p15 by Ensembl
WDPCP Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for WDPCP Gene
Post-translational modifications for WDPCP Gene
Other Protein References for WDPCP Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for WDPCP
- Novus Biologicals Antibodies for WDPCP
- Invitrogen Antibodies for WDPCP (AFLGC-WDPCP)
-
Biorbyt antibodies for WDPCP
-
Santa Cruz Biotechnology (SCBT) Antibodies for WDPCP
Protein Products
-
OriGene Purified Proteins for WDPCP
- Search Origene for MassSpec and Protein Over-expression Lysates for WDPCP
- Origene Custom Protein Services for WDPCP
- antibodies-online: Show 3 available WDPCP Proteins ranked by validation data
- Compare Top WDPCP Proteins
-
Quality Products:
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
- InterPro:
- ProtoNet:
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- Family:
-
- Belongs to the WD repeat fritz family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IEA | -- |
Phenotypes for WDPCP Gene
- MGI mutant phenotypes for WDPCP:
-
inferred from 3 alleles
- nervous system phenotype
- respiratory system phenotype
- cardiovascular system phenotype
- cellular phenotype
- mortality/aging
- growth/size/body region phenotype
- renal/urinary system phenotype
- digestive/alimentary phenotype
- vision/eye phenotype
- limbs/digits/tail phenotype
- hearing/vestibular/ear phenotype
- embryo phenotype
- craniofacial phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for WDPCP:
Animal Models for WDPCP Gene
- MGI Knock Outs for WDPCP:
-
- Wdpcp Wdpcp<tm1.1Clo>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for WDPCP - Select products 50% OFF >
- * WDPCP CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for WDPCP
-
Santa Cruz Biotechnology (SCBT) CRISPR for WDPCP
miRNA for WDPCP Gene
- miRTarBase miRNAs that target WDPCP
-
- hsa-miR-1303 (MIRT664625)
- hsa-miR-5096 (MIRT664626)
- hsa-miR-197-3p (MIRT664627)
- hsa-miR-411-5p (MIRT664628)
- hsa-miR-6755-3p (MIRT664629)
- hsa-miR-8078 (MIRT664630)
- hsa-miR-6832-5p (MIRT664631)
- hsa-miR-193b-5p (MIRT664632)
- hsa-miR-4716-5p (MIRT664633)
- hsa-miR-1265 (MIRT664634)
- hsa-miR-2392 (MIRT664635)
- hsa-miR-483-5p (MIRT664636)
- hsa-miR-3977 (MIRT714796)
- hsa-miR-4279 (MIRT714797)
- hsa-miR-3157-5p (MIRT714798)
- hsa-miR-4290 (MIRT714799)
- hsa-miR-1976 (MIRT714800)
- hsa-miR-3653-5p (MIRT714801)
- hsa-miR-6893-3p (MIRT714802)
- hsa-miR-370-3p (MIRT714803)
- hsa-miR-1470 (MIRT714804)
- hsa-miR-122-3p (MIRT714805)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for WDPCP
- Browse OriGene Inhibitory RNA Products For WDPCP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WDPCP
Clone Products
- Applied Biological Materials (abm): Clones for WDPCP - Select products 50% OFF >
- * WDPCP as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for WDPCP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for WDPCP
Cell Line Products
-
Horizon Cell Lines for WDPCP
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.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 4 |
| plasma membrane | 3 |
| nucleus | 2 |
| cytosol | 2 |
| extracellular | 1 |
| endosome | 1 |
| peroxisome | 0 |
- Cell Junctions (2)
| 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 | -- |
Pathways & Interactions for WDPCP Gene
Interacting Proteins for WDPCP Gene
GPS-Prot Interaction Network for WDPCP
| 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 | -- |
No data available for Pathways by source and SIGNOR curated interactions for WDPCP Gene
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 :
-
- ENST00000272321 4894 nts (view in UCSC)
- ENST00000398544 2063 nts (view in UCSC)
- ENST00000409120 5408 nts (view in UCSC)
- ENST00000409199 2466 nts (view in UCSC)
- ENST00000409354 2122 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for WDPCP - Select products 50% OFF >
- * WDPCP CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for WDPCP
-
Santa Cruz Biotechnology (SCBT) CRISPR for WDPCP
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for WDPCP
- Browse OriGene Inhibitory RNA Products For WDPCP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WDPCP
Clone Products
- Applied Biological Materials (abm): Clones for WDPCP - Select products 50% OFF >
- * WDPCP as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for WDPCP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for WDPCP
Relevant External Links for WDPCP Gene
- GeneLoc Exon Structure for
- WDPCP
Expression for WDPCP Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Neural Tube (Nervous System)
- Late Floor Plate Cells Mesencephalic Floor Plate
- Mesencephalic Floor Plate
- Diencephalic Roof Plate
- Metencephalon
- Brain (Nervous System)
- Gut Tube (Gastrointestinal Tract)
-
Testis (Reproductive System)
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for WDPCP
SOURCE GeneReport for Unigene cluster for WDPCP Gene:
Hs.414952Evidence on tissue expression from TISSUES for WDPCP Gene
- Nervous system(4.5)
- Kidney(2.1)
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
Primer Products
-
OriGene qPCR primer pairs for WDPCP
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | WDPCP 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | WDPCP 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | WDPCP 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Wdpcp 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Wdpcp 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | WDPCP 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | WDPCP 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | WDPCP 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | WDPCP 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | wdpcp 30 |
|
||
| Str.14230 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC100333125 30 |
|
||
| wdpcp 31 |
|
OneToOne | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002252 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | frtz 30 31 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany |
- Species where no ortholog for WDPCP was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
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 |
|---|---|---|---|---|---|
| 662878 | Uncertain Significance: Bardet-Biedl syndrome | 63,404,317(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 690307 | Likely Pathogenic: Orofaciodigital syndrome | 63,437,526(-) | TAA/T | FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 695203 | Conflicting Interpretations: Bardet-Biedl syndrome 15; Bardet-Biedl syndrome | 63,486,575(-) | C/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 695798 | Conflicting Interpretations: Bardet-Biedl syndrome 15; Bardet-Biedl syndrome | 63,404,615(-) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 696101 | Conflicting Interpretations: Bardet-Biedl syndrome 15; Bardet-Biedl syndrome | 63,404,559(-) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WDPCP Gene
Disorders for WDPCP Gene
(23) MalaCards diseases for WDPCP Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| congenital heart defects, hamartomas of tongue, and polysyndactyly |
|
|
| bardet-biedl syndrome 15 |
|
|
| bardet-biedl syndrome |
|
|
| meckel syndrome, type 1 |
|
|
| meckel syndrome, type 6 |
|
|
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
No data available for Genatlas for WDPCP Gene
Publications for WDPCP Gene
- 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
- The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. (PMID: 27158779) Toriyama M … Wallingford JB (Nature genetics 2016) 3 4
- 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
- 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
- WDPCP regulates the ciliogenesis of human sinonasal epithelial cells in chronic rhinosinusitis. (PMID: 28001338) Ma Y … Shi J (Cytoskeleton (Hoboken, N.J.) 2017) 3
ExternalLinks
Products for WDPCP Gene
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- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for WDPCP
- Search Origene for MassSpec and Protein Over-expression Lysates for WDPCP
- Origene Custom Protein Services for WDPCP
- Origene shrna, sirna, and RNAi products in human, mouse, rat for WDPCP
- Browse OriGene Inhibitory RNA Products For WDPCP
- OriGene qPCR primer pairs for WDPCP
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- Sino Biological Human cDNA Clone for WDPCP
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- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals proteins and lysates for WDPCP
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Invitrogen Antibodies for WDPCP (AFLGC-WDPCP)
- VectorBuilder Custom and pre-made DNA vectors for WDPCP (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for WDPCP (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for WDPCP (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for WDPCP CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for WDPCP
- antibodies-online: Show 15 available WDPCP Antibodies ranked by validation data
- Compare Top WDPCP Antibodies
- antibodies-online: Search results for available WDPCP related products ranked by validation data
- antibodies-online: Show 3 available WDPCP Proteins ranked by validation data
- Compare Top WDPCP Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for WDPCP
- Search Santa Cruz Biotechnology (SCBT) for WDPCP siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for WDPCP
- Horizon Cell Lines for WDPCP
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for WDPCP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for WDPCP
- Search GeneCopoeia for miRNA 3'UTR Target clone products for WDPCP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WDPCP
- Biorbyt antibodies for WDPCP
Sources for WDPCP Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB