WDPCP - WD repeat containing planar cell polarity effector Gene

中文名称：含 WD 重复平面细胞极性效应因子

种属: Homo sapiens

同用名: FRTZ; BBS15; FRITZ; CHDTHP; C2orf86; CPLANE5

基因 ID: 51057 | 基因类型: protein coding

关于 WDPCP

Cytogenetic location: 2p15 Genomic coordinates (GRCh38): 2:63,119,559-63,840,826 (from NCBI)

This gene has 17 transcripts (splice variants), 214 orthologues and is associated with 5 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码细胞质 WD40 重复蛋白。青蛙中的一个类似基因编码一种平面细胞极性蛋白，该蛋白通过介导 septin 定位在集体细胞运动和纤毛发生中发挥关键作用。该基因的突变与 Bardet-Biedl 综合征 15 相关，也可能在 Meckel-Gruber 综合征中发挥作用。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 6 月]

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 基因产物(4)

mRNA	Protein	Name
NM_001042692.3	NP_001036157.1	WD repeat-containing and planar cell polarity effector protein fritz homolog isoform 1
NM_001354044.2	NP_001340973.1	WD repeat-containing and planar cell polarity effector protein fritz homolog isoform 3
NM_001354045.2	NP_001340974.1	WD repeat-containing and planar cell polarity effector protein fritz homolog isoform 4
NM_015910.7	NP_056994.3	WD repeat-containing and planar cell polarity effector protein fritz homolog isoform 2

基因本体论

生物过程

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in embryonic digit morphogenesis	IMP IMP: 通过突变表型推断	27158779	GOA
involved in roof of mouth development	IMP IMP: 通过突变表型推断	27158779	GOA
involved in tongue morphogenesis	IMP IMP: 通过突变表型推断	27158779	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

WDPCP 蛋白结构

Frtz

0
200
400
600
746 a.a.

蛋白主名

其他名称

WD repeat-containing and planar cell polarity effector protein fritz homolog

Bardet-Biedl syndrome 15 protein

关联疾病

疾病名称

别名

Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly

Ostravik-Lindemann-Solberg Syndrome	CHDTHP
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Orstavik Lindemann Solberg Syndrome
Heart Defect - Tongue Hamartoma - Polysyndactyly Syndrome	Heart Defect, Tongue Hamartoma And Polysyndactyly
Hamartoma

Bardet-Biedl Syndrome 15

BBS15

Bardet-Biedl Syndrome, Type 15

Developmental And Epileptic Encephalopathy 88

DEE88	Epileptic Encephalopathy, Early Infantile, 88
Eiee88	Early Infantile Epileptic Encephalopathy 88
Developmental And Epileptic Encephalopathy, 88

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

Orofaciodigital Syndrome

Oral-Facial-Digital Syndrome	Orofaciodigital Syndromes
Ofd	Oral Facial Digital Syndromes
Oral-Facial-Digital Syndromes	Dysplasia Linguofacialis
Ofds	Oro-Facio-Digital Syndrome
Orodigitofacial Dysostosis	Orodigitofacial Syndrome
Oral Facial Digital Syndrome	Orofaciodigital Syndrome I

Joubert Syndrome 17

JBTS17

Joubert Syndrome, Type 17

Lissencephaly 6

Lis6

Bardet-Biedl Syndrome 19

BBS19

Bardet-Biedl Syndrome, Type 19

Bardet-Biedl Syndrome 11

BBS11	Bardet-Biedl Syndrome
Bbs	Bardet-Biedl Syndrome, Type 11

Bardet-Biedl Syndrome 18

BBS18

Bardet-Biedl Syndrome, Type 18

Orofaciodigital Syndrome V

OFD5	Thurston Syndrome
Orofaciodigital Syndrome 5	Polydactyly, Postaxial, With Median Cleft Of Upper Lip
Ofds V	Oral-Facial-Digital Syndrome, Type V
Orofaciodigital Syndrome, Thurston Type	Orofaciodigital Syndrome Thurston Type
Oral-Facial-Digital Syndrome 5	Polydactyly Postaxial With Median Cleft Of Upper Lip
Ofd Syndrome 5	Ofds 5
Oral Facial Digital Syndrome 5	Oral Facial Digital Syndrome Type 5
Orofaciodigital Syndrome Type 5	Oral-Facial-Digital Syndrome Type 5
Papillon-Leage And Psaume Syndrome	Orofaciodigital Syndrome, Type V

Acromelic Frontonasal Dysostosis

AFND	Acromelic Frontonasal Dysplasia
Frontonasal Dysplasia Acromelic	Toriello Syndrome
Dysostosis, Acromelic Frontonasal	Sweet Syndrome

Polydactyly

Non-Syndromic Polydactyly	Polydactyly, Postaxial
Postaxial Polydactyly	Supernumerary Digit
Extra Digits	Hyperdactyly
Polydactylia	Polydactylism
Supernumerary Digits

Joubert Syndrome 23

JBTS23

Joubert Syndrome, Type 23

Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 3	Saldino-Noonan Syndrome
SRTD3	Atd3
Srps1	Srps3
Verma-Naumoff Syndrome	Srps2b
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Short Rib-Polydactyly Syndrome, Type I
Polydactyly With Neonatal Chondrodystrophy, Type I	Polydactyly With Neonatal Chondrodystrophy, Type Iii
Short Rib-Polydactyly Syndrome, Type Iib	Short Rib-Polydactyly Syndrome Type 3
Polydactyly With Neonatal Chondrodystrophy Type Iii	Short Rib-Polydactyly Syndrome Type Iii
Short Rib-Polydactyly Syndrome Type 1	Short Rib-Polydactyly Syndrome, Saldino-Noonan Type
Majewski Syndrome	Short Rib-Polydactyly Syndrome, Type Iii
Type I Short Rib Polydactyly Syndrome	Srps Type 3
Short Rib Polydactyly Syndrome Verma Naumoff Type	Verma Naumoff Syndrome
Polydactyly With Neonatal Chondrodystrophy Type 1	Srps Type 1
Short Rib-Polydactyly Syndrome Saldino-Noonan Type	Jatd
Jeune Asphyxiating Thoracic Dystrophy	Jeune Syndrome 3
Polydactyly With Neonatal Chondrodystrophy Type I	Short Rib-Polydactyly Syndrome Type I
Short Rib-Polydactyly Syndrome Type Iib	Srps Type Iib
Srps Type Iii

Orofaciodigital Syndrome Vi

OFD6	Varadi-Papp Syndrome
Varadi Syndrome	Joubert Syndrome With Orofaciodigital Defect
Orofaciodigital Syndrome Type 6	Orofaciodigital Syndrome 6
Oral-Facial-Digital Syndrome, Type Vi	Ofds Vi
Polydactyly, Cleft Lip/Palate Or Lingual Lump, And Psychomotor Retardation	Polydactyly Cleft Lip Palate Psychomotor Retardation
Oral-Facial-Digital Syndrome Type 6	Polydactyly-Cleft Lip/Palate-Psychomotor Retardation Syndrome
Polydactyly - Cleft Lip/Palate - Psychomotor Retardation	Váradi Syndrome
Váradi-Papp Syndrome	Joubert Syndrome With Oral-Facial-Digital Syndrome
Oral-Facial-Digital Syndrome 6	Joubert-Orofaciodigital Syndrome
Orofaciodigital Syndrome, Type Vi

Heart Disease

Heart Failure	Congenital Heart Disease
Heart Diseases	Congenital Heart Defects
Congenital Heart Defect	Heart Malformation
Congenital Anomaly Of Heart	Heart Defect
Heart-Congenital Defect	Congenital Heart Disorder
Heart Defects Congenital	Heart Defects, Congenital
Heart Defects	Heart Disease, Congenital
Disease, Heart, Congenital	Congestive Heart Failure

Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly

Majewski Syndrome	SRTD6
Srps2a	Short Rib-Polydactyly Syndrome, Majewski Type
Polydactyly With Neonatal Chondrodystrophy, Type Ii	Short Rib-Polydactyly Syndrome Type Iia
Short Rib-Polydactyly Syndrome Type 2	Short Rib-Polydactyly Syndrome Type Ii
Short Rib-Polydactyly Syndrome, Type Ii	Srps, Type Ii
Short Rib-Polydactyly Syndrome, Type Iia	Polydactyly With Neonatal Chondrodystrophy Type 2
Srps Type 2	Short Rib-Polydactyly Syndrome Majewski Type
Polydactyly With Neonatal Chondrodystrophy Type Ii	Short Rib-Polydactyly Syndrome 2a
Srps Type Ii

Asphyxiating Thoracic Dystrophy

Jeune Thoracic Dystrophy	Jeune Syndrome
Asphyxiating Thoracic Dysplasia	Short-Rib Thoracic Dysplasia With Or Without Polydactyly
Thoracic Pelvic Phalangeal Dystrophy	Asphyxiating Thoracic Chondrodystrophy
Atd	Chondroectodermal Dysplasia-Like Syndrome
Infantile Thoracic Dystrophy	Jeune Thoracic Dysplasia
Thoracic Asphyxiant Dystrophy	Thoracic-Pelvic-Phalangeal Dystrophy
Short-Rib Thoracic Dysplasia Without Polydactyly	Asphyxiating Thoracic Dystrophy Of The Newborn
Asphyxiating Thorax Dystrophy

Cone Dystrophy

Retinal Cone Dystrophy	Dystrophy, Cone
Cone Dystrophy 3

Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 1	Jeune Syndrome
SRTD1	Atd1
Asphyxiating Thoracic Dystrophy Of The Newborn	Jatd
Jeune Asphyxiating Thoracic Dystrophy	Thoracic-Pelvic-Phalangeal Dystrophy
Atd	Asphyxiating Thoracic Dystrophy
Chondroectodermal Dysplasia-Like Syndrome	Infantile Thoracic Dystrophy
Jeune'S Syndrome	Thoracic Pelvic Phalangeal Dystrophy
Jeune Thoracic Dystrophy

Meckel Syndrome, Type 1

Meckel-Gruber Syndrome	Meckel Syndrome
Dysencephalia Splanchnocystica	Meckel Syndrome 1
MKS1	Mks
Gruber Syndrome	Meckel-Gruber Syndrome, Type 1
Mes	Dysencephalia Splachnocystica
Meckel Gruber Syndrome	Meckel Syndrome Type 1

Nephronophthisis

Medullary Cystic Disease	Medullary Cystic Kidney
Nph	Nphp
Kidney Disease, Cystic, Medullary

Joubert Syndrome 1

Joubert Syndrome	Jbts
Cerebellooculorenal Syndrome 1	JBTS1
Joubert-Boltshauser Syndrome	Cerebelloparenchymal Disorder Iv
Cpd4	Cors1
Joubert Syndrome And Related Disorders	Jsrd
Familial Aplasia Of The Vermis	Joubert Syndrome Related Disorders
Js	Cerebellar Vermis Agenesis
Cerebelloparenchymal Disorder 4	Agenesis Of Cerebellar Vermis
Cerebello-Oculo-Renal Syndrome	Cors
Joubert-Bolthauser Syndrome	Cpd Iv
Classic Joubert Syndrome	Joubert Syndrome Type A
Pure Joubert Syndrome	Cerebello-Oculo-Renal Syndrome 1
Joubert Syndrome-1	Joubert Syndrome, Type 1
Joubert'S Syndrome

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

疾病名称	别名
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-176347S	Alpha Feto Protein, Arg-13C6,15N4, Lys-13C6,15N2		/	否
HY-RS15759	WDPCP Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	WDPCP	RGD	RGD:1309501
Bos taurus	WDPCP	VGNC	VGNC:36879
Canis familiaris	WDPCP	VGNC	VGNC:48348
Mus musculus	WDPCP	MGD	MGI:2144467
Macaca mulatta	WDPCP	VGNC	VGNC:79677
Felis catus	WDPCP	VGNC	VGNC:67012

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