Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	51057
Gene name	WD repeat containing planar cell polarity effector
Gene symbol	WDPCP
Synonyms (NCBI Gene)	BBS15C2orf86CHDTHPCPLANE5FRITZFRTZ
Chromosome	2
Chromosome location	2p15
Summary	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 associ

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs199959383	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs200322968	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs267606692	C>G	Risk-factor	Coding sequence variant, non coding transcript variant, missense variant
rs267606693	C>T	Risk-factor	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs397704728	C>A	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs727503781	TA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1575420160	AA>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

146

Show/Hide all (146)

miRTarBase ID	miRNA	Experiments	Reference
MIRT714805	hsa-miR-122-3p	HITS-CLIP	19536157
MIRT714804	hsa-miR-1470	HITS-CLIP	19536157
MIRT714803	hsa-miR-370-3p	HITS-CLIP	19536157
MIRT714802	hsa-miR-6893-3p	HITS-CLIP	19536157
MIRT714801	hsa-miR-3653-5p	HITS-CLIP	19536157
MIRT714800	hsa-miR-1976	HITS-CLIP	19536157
MIRT714799	hsa-miR-4290	HITS-CLIP	19536157
MIRT714798	hsa-miR-3157-5p	HITS-CLIP	19536157
MIRT714797	hsa-miR-4279	HITS-CLIP	19536157
MIRT714796	hsa-miR-3977	HITS-CLIP	19536157
MIRT664636	hsa-miR-483-5p	HITS-CLIP	23313552
MIRT664635	hsa-miR-2392	HITS-CLIP	23313552
MIRT664634	hsa-miR-1265	HITS-CLIP	23313552
MIRT664628	hsa-miR-411-5p	HITS-CLIP	23313552
MIRT664633	hsa-miR-4716-5p	HITS-CLIP	23313552
MIRT664632	hsa-miR-193b-5p	HITS-CLIP	23313552
MIRT664631	hsa-miR-6832-5p	HITS-CLIP	23313552
MIRT664630	hsa-miR-8078	HITS-CLIP	23313552
MIRT664629	hsa-miR-6755-3p	HITS-CLIP	23313552
MIRT664628	hsa-miR-411-5p	HITS-CLIP	23313552
MIRT664627	hsa-miR-197-3p	HITS-CLIP	23313552
MIRT664626	hsa-miR-5096	HITS-CLIP	23313552
MIRT664625	hsa-miR-1303	HITS-CLIP	23313552
MIRT664636	hsa-miR-483-5p	HITS-CLIP	23824327
MIRT664635	hsa-miR-2392	HITS-CLIP	23824327
MIRT664634	hsa-miR-1265	HITS-CLIP	23824327
MIRT664628	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT664633	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT664632	hsa-miR-193b-5p	HITS-CLIP	23824327
MIRT664631	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT664630	hsa-miR-8078	HITS-CLIP	23824327
MIRT664629	hsa-miR-6755-3p	HITS-CLIP	23824327
MIRT664628	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT664627	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT664626	hsa-miR-5096	HITS-CLIP	23824327
MIRT664625	hsa-miR-1303	HITS-CLIP	23824327
MIRT714805	hsa-miR-122-3p	HITS-CLIP	19536157
MIRT714804	hsa-miR-1470	HITS-CLIP	19536157
MIRT714803	hsa-miR-370-3p	HITS-CLIP	19536157
MIRT714802	hsa-miR-6893-3p	HITS-CLIP	19536157
MIRT714801	hsa-miR-3653-5p	HITS-CLIP	19536157
MIRT714800	hsa-miR-1976	HITS-CLIP	19536157
MIRT714799	hsa-miR-4290	HITS-CLIP	19536157
MIRT714798	hsa-miR-3157-5p	HITS-CLIP	19536157
MIRT714797	hsa-miR-4279	HITS-CLIP	19536157
MIRT714796	hsa-miR-3977	HITS-CLIP	19536157
MIRT664636	hsa-miR-483-5p	HITS-CLIP	23313552
MIRT664635	hsa-miR-2392	HITS-CLIP	23313552
MIRT664634	hsa-miR-1265	HITS-CLIP	23313552
MIRT664628	hsa-miR-411-5p	HITS-CLIP	23313552
MIRT664633	hsa-miR-4716-5p	HITS-CLIP	23313552
MIRT664632	hsa-miR-193b-5p	HITS-CLIP	23313552
MIRT664631	hsa-miR-6832-5p	HITS-CLIP	23313552
MIRT664630	hsa-miR-8078	HITS-CLIP	23313552
MIRT664629	hsa-miR-6755-3p	HITS-CLIP	23313552
MIRT664628	hsa-miR-411-5p	HITS-CLIP	23313552
MIRT664627	hsa-miR-197-3p	HITS-CLIP	23313552
MIRT664626	hsa-miR-5096	HITS-CLIP	23313552
MIRT664625	hsa-miR-1303	HITS-CLIP	23313552
MIRT664636	hsa-miR-483-5p	HITS-CLIP	23824327
MIRT664635	hsa-miR-2392	HITS-CLIP	23824327
MIRT664634	hsa-miR-1265	HITS-CLIP	23824327
MIRT664628	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT664633	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT664632	hsa-miR-193b-5p	HITS-CLIP	23824327
MIRT664631	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT664630	hsa-miR-8078	HITS-CLIP	23824327
MIRT664629	hsa-miR-6755-3p	HITS-CLIP	23824327
MIRT664628	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT664627	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT664626	hsa-miR-5096	HITS-CLIP	23824327
MIRT664625	hsa-miR-1303	HITS-CLIP	23824327
MIRT1489703	hsa-miR-3182	CLIP-seq
MIRT1489704	hsa-miR-4457	CLIP-seq
MIRT1489705	hsa-miR-4659a-3p	CLIP-seq
MIRT1489706	hsa-miR-4659b-3p	CLIP-seq
MIRT1489707	hsa-miR-4709-3p	CLIP-seq
MIRT1489708	hsa-miR-4727-5p	CLIP-seq
MIRT1489709	hsa-miR-513b	CLIP-seq
MIRT2147652	hsa-miR-1208	CLIP-seq
MIRT2147653	hsa-miR-1254	CLIP-seq
MIRT2147654	hsa-miR-3116	CLIP-seq
MIRT2147655	hsa-miR-3192	CLIP-seq
MIRT2147656	hsa-miR-4634	CLIP-seq
MIRT2147657	hsa-miR-4735-5p	CLIP-seq
MIRT2147658	hsa-miR-4775	CLIP-seq
MIRT2147659	hsa-miR-4794	CLIP-seq
MIRT2147660	hsa-miR-548a-5p	CLIP-seq
MIRT2147661	hsa-miR-548ab	CLIP-seq
MIRT2147662	hsa-miR-548ak	CLIP-seq
MIRT2147663	hsa-miR-548b-5p	CLIP-seq
MIRT2147664	hsa-miR-548c-5p	CLIP-seq
MIRT2147665	hsa-miR-548d-5p	CLIP-seq
MIRT2147666	hsa-miR-548h	CLIP-seq
MIRT2147667	hsa-miR-548i	CLIP-seq
MIRT2147668	hsa-miR-548j	CLIP-seq
MIRT2147669	hsa-miR-548k	CLIP-seq
MIRT2147670	hsa-miR-548l	CLIP-seq
MIRT2147671	hsa-miR-548w	CLIP-seq
MIRT2147672	hsa-miR-548y	CLIP-seq
MIRT2147673	hsa-miR-559	CLIP-seq
MIRT2147674	hsa-miR-590-3p	CLIP-seq
MIRT2147675	hsa-miR-619	CLIP-seq
MIRT2147676	hsa-miR-661	CLIP-seq
MIRT2367978	hsa-miR-1183	CLIP-seq
MIRT2147652	hsa-miR-1208	CLIP-seq
MIRT2367979	hsa-miR-1343	CLIP-seq
MIRT2367980	hsa-miR-3137	CLIP-seq
MIRT1489703	hsa-miR-3182	CLIP-seq
MIRT2367981	hsa-miR-3185	CLIP-seq
MIRT2367982	hsa-miR-3545-3p	CLIP-seq
MIRT2367983	hsa-miR-3614-3p	CLIP-seq
MIRT2367984	hsa-miR-3714	CLIP-seq
MIRT2367985	hsa-miR-378g	CLIP-seq
MIRT2367986	hsa-miR-4437	CLIP-seq
MIRT1489705	hsa-miR-4659a-3p	CLIP-seq
MIRT1489706	hsa-miR-4659b-3p	CLIP-seq
MIRT2367987	hsa-miR-4674	CLIP-seq
MIRT2367988	hsa-miR-4680-5p	CLIP-seq
MIRT2367989	hsa-miR-4726-3p	CLIP-seq
MIRT2367978	hsa-miR-1183	CLIP-seq
MIRT2147652	hsa-miR-1208	CLIP-seq
MIRT2367980	hsa-miR-3137	CLIP-seq
MIRT2367982	hsa-miR-3545-3p	CLIP-seq
MIRT2367983	hsa-miR-3614-3p	CLIP-seq
MIRT2367988	hsa-miR-4680-5p	CLIP-seq
MIRT2147653	hsa-miR-1254	CLIP-seq
MIRT2147654	hsa-miR-3116	CLIP-seq
MIRT2661501	hsa-miR-4282	CLIP-seq
MIRT1489704	hsa-miR-4457	CLIP-seq
MIRT2147657	hsa-miR-4735-5p	CLIP-seq
MIRT2147658	hsa-miR-4775	CLIP-seq
MIRT2147659	hsa-miR-4794	CLIP-seq
MIRT1489709	hsa-miR-513b	CLIP-seq
MIRT2147674	hsa-miR-590-3p	CLIP-seq
MIRT2147676	hsa-miR-661	CLIP-seq
MIRT2147653	hsa-miR-1254	CLIP-seq
MIRT2147654	hsa-miR-3116	CLIP-seq
MIRT2661501	hsa-miR-4282	CLIP-seq
MIRT1489704	hsa-miR-4457	CLIP-seq
MIRT2147657	hsa-miR-4735-5p	CLIP-seq
MIRT2147658	hsa-miR-4775	CLIP-seq
MIRT2147659	hsa-miR-4794	CLIP-seq
MIRT1489709	hsa-miR-513b	CLIP-seq
MIRT2147674	hsa-miR-590-3p	CLIP-seq
MIRT2147676	hsa-miR-661	CLIP-seq

Show/Hide all (50)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001736	Process	Establishment of planar polarity	NAS	27158779
GO:0001822	Process	Kidney development	IEA
GO:0002093	Process	Auditory receptor cell morphogenesis	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	NAS	27158779
GO:0005930	Component	Axoneme	ISS
GO:0005938	Component	Cell cortex	ISS
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007399	Process	Nervous system development	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0010762	Process	Regulation of fibroblast migration	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0016476	Process	Regulation of embryonic cell shape	ISS
GO:0021915	Process	Neural tube development	NAS	27158779
GO:0030030	Process	Cell projection organization	IEA
GO:0032185	Process	Septin cytoskeleton organization	ISS
GO:0032880	Process	Regulation of protein localization	ISS
GO:0035091	Function	Phosphatidylinositol binding	IEA
GO:0035091	Function	Phosphatidylinositol binding	ISS
GO:0042073	Process	Intraciliary transport	NAS	27158779
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IMP	27158779
GO:0042995	Component	Cell projection	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0043587	Process	Tongue morphogenesis	IEA
GO:0043587	Process	Tongue morphogenesis	IMP	27158779
GO:0044782	Process	Cilium organization	IBA
GO:0044782	Process	Cilium organization	IEA
GO:0045184	Process	Establishment of protein localization	IBA
GO:0045184	Process	Establishment of protein localization	IEA
GO:0048568	Process	Embryonic organ development	IEA
GO:0051893	Process	Regulation of focal adhesion assembly	IEA
GO:0055123	Process	Digestive system development	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0060021	Process	Roof of mouth development	IMP	27158779
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	ISS
GO:0060541	Process	Respiratory system development	IEA
GO:0072359	Process	Circulatory system development	IEA
GO:0090521	Process	Podocyte cell migration	IEA
GO:0097541	Component	Axonemal basal plate	IBA
GO:0097541	Component	Axonemal basal plate	IEA
GO:1900027	Process	Regulation of ruffle assembly	IEA
GO:1902017	Process	Regulation of cilium assembly	NAS	27158779
GO:2000114	Process	Regulation of establishment of cell polarity	IEA

MIM	HGNC	e!Ensembl
613580	28027	ENSG00000143951

O95876

Protein name

WD repeat-containing and planar cell polarity effector protein fritz homolog (hFRTZ) (Bardet-Biedl syndrome 15 protein) (WD repeat-containing and planar cell polarity effector protein)

Protein 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 (cilioge

PDB

7Q3D

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11768	Frtz	79 → 622	WD repeat-containing and planar cell polarity effector protein Fritz	Family

Sequence

MRREFCWDAYSKAAGSRASSPLPRQDRDSFCHQMSFCLTELHLWSLKNTLHIADRDIGIY
QYYDKKDPPATEHGNLEKKQKLAESRDYPWTLKNRRPEKLRDSLKELEELMQNSRCVLSK
WKNKYVCQLLFGSGVLVSLSLSGPQLEKVVIDRSLVGKLISDTISDALLTDSFIILSFLA
QNKLCFIQFTKKMESSDVNKRLEKLSALDYKIFYYEIPGPINKTTERHLAINCVHDRVVC
WWPLVNDDAWPWAPISSEKDRANLLLLGYAQGRLEVLSSVRTEWDPLDVRFGTKQPYQVF
TVEHSVSVDKEPMADSCIYECIRNKIQCVSVTRIPLKSKAISCCRNVTEDKLILGCEDSS
LILYETHRRVTLLAQTELLPSLISCHPSGAILLVGSNQGELQIFDMALSPINIQLLAEDR
LPRETLQFSKLFDASSSLVQMQWIAPQVVSQKGEGSDIYDLLFLRFERGPLGVLLFKLGV
FTRGQLGLIDIIFQYIHCDEIYEAINILSSMNWDTLGHQCFISMSAIVNHLLRQKLTPER
EAQLETSLGTFYAPTRPLLDSTILEYRDQISKYARRFFHHLLRYQRFEKAFLLAVDVGAR
DLFMDIHYLALDKGELALAEVARKRASDIDAESITSGVELLGPLDRGDMLNEAFIGLSLA
PQGEDSFPDNLPPSCPTHRHILQQRILNGSSNRQIIDRRNELEKDICSGFLMTNTCNAED
GELREDGREQEIRDGGSLKMIHFGLV

Sequence length

746

Interactions

View interactions

977

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Bardet-Biedl syndrome	Likely pathogenic; Pathogenic	rs1486299333, rs2104771725, rs2103954534, rs182144885, rs2105500878, rs1281918775, rs959923850, rs2104772718, rs2105466704, rs772536466, rs727503781, rs1558542714, rs776780491, rs1449433208, rs894887380 View all (15 more)	RCV001378083 RCV001380820 RCV001389721 RCV001382644 RCV001389894 RCV001897977 RCV002028592 RCV002018722 RCV001993280 RCV001999985 RCV005089724 RCV003074330 RCV002632558 RCV002603596 RCV002633446 RCV002634017 RCV002576077 RCV002766059 RCV002770469 RCV003005446 RCV003030356 RCV003043296 RCV003522620 RCV003633293 RCV003634229 RCV001042576 RCV002536736 RCV001213375 RCV001205928 RCV001244664
Bardet-Biedl syndrome 15	Likely pathogenic; Pathogenic	rs2105500878, rs2103953112, rs749286148, rs2105466704, rs397704728, rs766056004, rs2466930630, rs767481770, rs1673664656, rs765356177, rs1700584499	RCV002504653 RCV001536026 RCV005023258 RCV005031991 RCV000000062 RCV005036960 RCV004527273 RCV000778623 RCV001175234 RCV004699231 RCV001251165
Heart defect - tongue hamartoma - polysyndactyly syndrome	Likely pathogenic; Pathogenic	rs2105500878, rs2103953112, rs749286148, rs2105466704, rs727503781, rs2469145265, rs766056004, rs2469249675, rs767481770, rs1575420160, rs765356177	RCV002504653 RCV001536026 RCV005023258 RCV005031991 RCV000150108 RCV003340876 RCV005036960 RCV003986034 RCV005036097 RCV001257318 RCV003985840
Orofaciodigital syndrome	Likely pathogenic; Pathogenic	rs1575420160	RCV000851199
WDPCP-related disorder	Pathogenic; Likely pathogenic	rs182144885, rs772536466, rs894887380, rs768036084, rs766056004	RCV003416303 RCV004746542 RCV004747222 RCV003404349 RCV004747343

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Bardet-Biedl syndrome 1	Benign; Likely benign; Conflicting classifications of pathogenicity	rs992214, rs61734468, rs544657165	RCV000709671 RCV000709653 RCV000624967
Bardet-Biedl syndrome 12, modifier of	risk factor	rs267606692	RCV000000063
Hepatocellular carcinoma	Benign	rs750072390	RCV005871295
Joubert syndrome	Uncertain significance	rs201662623	RCV000851200
Meckel syndrome, type 6, modifier of	risk factor	rs267606693	RCV000000064
Melanoma	Conflicting classifications of pathogenicity	rs200322968	RCV005888303
Optic atrophy	Uncertain significance	rs747517141	RCV004815684
Ovarian serous cystadenocarcinoma	Uncertain significance	rs1040913823	RCV005910942
Retinal dystrophy	Uncertain significance	rs2105184946, rs1240153660	RCV004815703 RCV004818220
Uterine corpus endometrial carcinoma	Likely benign; Uncertain significance	rs201860952, rs187135801	RCV005912831 RCV005913583

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Attention Deficit Disorder with Hyperactivity	Associate	30610198
Bardet Biedl Syndrome	Associate	37239474
Ciliopathies	Associate	32055034
Respiratory Tract Diseases	Associate	33181258

WDPCP (WD repeat containing planar cell polarity effector)