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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	51057
Gene name Gene Name - the full gene name approved by the HGNC.	WD repeat containing planar cell polarity effector
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	WDPCP
Synonyms (NCBI Gene) Gene synonyms aliases	BBS15, C2orf86, CHDTHP, CPLANE5, FRITZ, FRTZ
Disease Acronyms (UniProt) Disease acronyms from UniProt database	BBS15, CHDTHP
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2p15
Summary Summary of gene provided in NCBI Entrez 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 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

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(27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IEA
GO:0002093	Process	Auditory receptor cell morphogenesis	IEA
GO:0005886	Component	Plasma membrane	ISS
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	21873635
GO:0010762	Process	Regulation of fibroblast migration	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0016476	Process	Regulation of embryonic cell shape	ISS
GO:0032185	Process	Septin cytoskeleton organization	ISS
GO:0032880	Process	Regulation of protein localization	ISS
GO:0042733	Process	Embryonic digit morphogenesis	IMP	27158779
GO:0043010	Process	Camera-type eye development	IEA
GO:0043587	Process	Tongue morphogenesis	IMP	27158779
GO:0044782	Process	Cilium organization	IBA	21873635
GO:0045184	Process	Establishment of protein localization	IBA	21873635
GO:0051893	Process	Regulation of focal adhesion assembly	IEA
GO:0055123	Process	Digestive system development	IEA
GO:0060021	Process	Roof of mouth development	IMP	27158779
GO:0060271	Process	Cilium assembly	ISS
GO:0060541	Process	Respiratory system development	IEA
GO:0072359	Process	Circulatory system development	IEA
GO:0090521	Process	Glomerular visceral epithelial cell migration	IEA
GO:0097541	Component	Axonemal basal plate	IBA	21873635
GO:1900027	Process	Regulation of ruffle assembly	IEA
GO:2000114	Process	Regulation of establishment of cell polarity	IEA

MIM	HGNC	e!Ensembl
613580	28027	ENSG00000143951

Protein

UniProt ID

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

Show/Hide Causal Diseases (27)

Disease term	Disease name	dbSNP ID	References
Causal
Anencephaly	Anencephaly	rs773607884
Atrioventricular septal defect	Atrioventricular Septal Defect	rs137852683, rs137852686, rs104894073, rs1598737972, rs1057518960, rs774018674, rs1575650682, rs1598737976, rs1188358849, rs2033057699
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019	31619474
Bardet-biedl syndrome	Bardet-Biedl syndrome 1 (disorder), BARDET-BIEDL SYNDROME 15, Bardet-Biedl syndrome	rs397704728, rs397515335, rs397515337, rs267607031, rs121918327, rs587777801, rs587777802, rs121918328, rs587777803, rs549625604, rs137852837, rs137852833, rs137852835, rs267606719, rs199874059 View all (560 more)	27158779, 20671153
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Heart defect, tongue hamartoma and polysyndactyly	Heart defect, tongue hamartoma and polysyndactyly, Heart defect-tongue hamartoma-polysyndactyly syndrome	rs727503781, rs767481770, rs1575420160	25427950
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Hypertension	Hypertensive disease	rs13306026
Lobar holoprosencephaly	Lobar Holoprosencephaly	rs121909645
Meckel syndrome	Meckel syndrome type 1, Meckel syndrome	rs201108965, rs386833831, rs386833830, rs116358011, rs118204052, rs121918201, rs121918202, rs121918203, rs137852835, rs267606719, rs386834200, rs386834204, rs386834207, rs137853106, rs386834187 View all (125 more)	20671153
Meckel-gruber syndrome	Meckel-Gruber syndrome	rs121918203, rs137852832, rs386833760, rs386834180, rs397514753, rs62640570, rs587777145, rs377177061, rs587779733, rs587779736, rs730882231, rs730882233, rs786205508, rs201787275, rs886039792 View all (9 more)	20671153
Melanoma	Cutaneous Melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340 View all (64 more)	26237428
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910 View all (152 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562 View all (27 more)
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Polycystic liver disease	Polycystic liver disease	rs137852944, rs137852949, rs398124483, rs200391019, rs786204696, rs773136605, rs781368899, rs376161880, rs774759689, rs762811727, rs1210158408, rs1565088616, rs1565092566, rs1565092899, rs1565093675 View all (11 more)
Polydactyly	Polydactyly preaxial type 1	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474 View all (3 more)
Prostate cancer	Prostate carcinoma	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	31562322
Retinitis pigmentosa	Retinitis Pigmentosa	rs267606794, rs200691042, rs397704718, rs202193201, rs267606793, rs2147483647, rs779886453, rs267606691, rs794728002, rs878853253, rs137853189, rs137853190, rs137853112, rs137853113, rs137853114 View all (1830 more)
Situs inversus	Situs inversus totalis	rs528302390, rs1596264554
Syndromic microphthalmia	Anophthalmos	rs786205873, rs104894464, rs786205874, rs104894465, rs387906701, rs1566623121, rs786205879, rs1566624472, rs397514463, rs1566623392, rs387907252, rs397518481, rs397518482, rs397518483, rs587776457 View all (19 more)

Show/Hide Unknown Diseases (8)

Disease term	Disease name	References	Source
Unknown
Asthma	Asthma	31619474	ClinVar
Malignant melanoma of skin	Malignant melanoma of skin of lower limb, Malignant melanoma of skin of upper limb	26237428	ClinVar
Polysyndactyly	heart defect - tongue hamartoma - polysyndactyly syndrome		GenCC
Bardet-Biedl Syndrome	Bardet-Biedl syndrome		GenCC
Neuroticism	Neuroticism		GWAS
Eczema	Eczema		GWAS
Anxiety Disorder	Anxiety Disorder		GWAS
Insomnia	Insomnia		GWAS

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text Mining
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)