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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 multiple transcript variants. [provided by RefSeq, Jun 2014]
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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA | -- |
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 | -- |
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 | -- |
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 |
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 |
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 |
|
|