FUZ - fuzzy planar cell polarity protein Gene

中文名称：模糊平面细胞极性蛋白

种属: Homo sapiens

同用名: FY; NTD; CPLANE3

基因 ID: 80199 | 基因类型: protein coding

关于 FUZ

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:49,806,866-49,813,553 (from NCBI)

This gene has 18 transcripts (splice variants), 152 orthologues and is associated with 15 phenotypes. Broad expression in testis (RPKM 12.5), kidney (RPKM 6.2) and 25 other tissues.

功能概要

该基因编码一种平面细胞极性蛋白，该蛋白参与纤毛发生和定向细胞运动。小鼠基因敲除研究显示神经管缺陷和纤毛缺陷，该基因的突变与人类神经管缺陷有关。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2012 年 7 月]

This gene encodes a planar cell polarity protein that is involved in ciliogenesis and directional cell movement. Knockout studies in mice exhibit neural tube defects and defective cilia, and mutations in this gene are associated with neural tube defects in humans. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012]

FUZ 基因产物(4)

mRNA	Protein	Name
NM_001171937.2	NP_001165408.1	protein fuzzy homolog isoform 2
NM_001352262.2	NP_001339191.1	protein fuzzy homolog isoform 3
NM_001363663.1	NP_001350592.1	protein fuzzy homolog isoform 4
NM_025129.5	NP_079405.2	protein fuzzy homolog isoform 1

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	16189514	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in negative regulation of cell migration	IMP IMP: 通过突变表型推断	21840926	GOA
involved in neural tube closure	IMP IMP: 通过突变表型推断	21840926	GOA
involved in non-motile cilium assembly	IMP IMP: 通过突变表型推断	21840926	GOA
involved in positive regulation of cilium assembly	IMP IMP: 通过突变表型推断	21840926	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

蛋白主名

其他名称

protein fuzzy homolog

ciliogenesis and planar polarity effector 3

FUZ 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	FUZ	Q9BT04	INTU	Homo sapiens	Q9ULD6	Anti Tag CoIP	33961781
种属内	FUZ	Q9BT04	INTU	Homo sapiens	Q9ULD6	TAP	27173435
种属内	FUZ	Q9BT04	CPLANE2	Homo sapiens	Q9BU20	Anti Tag CoIP	33961781
种属内	FUZ	Q9BT04	CPLANE2	Homo sapiens	Q9BU20	Y2H Array	32296183
种属内	FUZ	Q9BT04	CPLANE2	Homo sapiens	Q9BU20	Y2H Prey Pooling	32296183
种属内	FUZ	Q9BT04	CPLANE2	Homo sapiens	Q9BU20	Validated Y2H	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Upper Thoracic Spina Bifida Cystica

Cervicothoracic Spina Bifida Cystica

Cervical Spina Bifida Cystica

Lumbosacral Spina Bifida Cystica

Thoracolumbosacral Spina Bifida Cystica

Total Spina Bifida Cystica

Upper Thoracic Spina Bifida Aperta

Thoracolumbosacral Spina Bifida Aperta

Lumbosacral Spina Bifida Aperta

Cervical Spina Bifida Aperta

Spina Bifida Aperta Of Cervical Spine

Cervicothoracic Spina Bifida Aperta

Total Spina Bifida Aperta

Chiari Malformation Type Ii

Arnold-Chiari Malformation	Chiari Malformation Type 2
Arnold-Chiari Malformation Type Ii	Cm2
Arnold Chiari Malformation Type Ii	Chiari Type Ii Malformation
Arnold-Chiari Malformation Type 2	Arnold-Chiari Obstruction Type Ii
Arnold-Chiari Malformation Nos	Arnold-Chiari Syndrome Nos

Neural Tube Defects

Spina Bifida	Neural Tube Defect
NTD	Neural Tube Defects, Susceptibility To
Spinal Dysraphism	Spina Bifida, Susceptibility To
Rachischisis	Cleft Spine
Open Spine	Hydrocele Spinalis
Neural Tube Defect Nos	Sb - [Spina Bifida]
Spinal Hernia Nos	Spinal Fissure Nos

Sacral Defect With Anterior Meningocele

Caudal Regression Syndrome	Caudal Regression Sequence
Sacral Agenesis	Caudal Dysgenesis Syndrome
SDAM	Caudal Dysplasia Sequence
Caudal Dysplasia	Sacral Agenesis Syndrome
Sacral Regression Syndrome	Sacral Defect And Anterior Sacral Meningocele
Rudd Klimek Syndrome	Sirenomelia

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

Joubert Syndrome 17

JBTS17

Joubert Syndrome, Type 17

Spina Bifida Occulta

Fibroosseous Pseudotumor Of Digits

Fibroosseous Digital Pseudotumor

Fibroosseous Pseudotumor Of The Digits

Shukla-Vernon Syndrome

SHUVER

Carnitine-Acylcarnitine Translocase Deficiency

Cact Deficiency	Carnitine Acylcarnitine Translocase Deficiency
CACTD	Carnitine-Acylcarnitine Carrier Deficiency

Myelomeningocele

Meningomyelocele

Cranioectodermal Dysplasia

Sensenbrenner Syndrome	Levin Syndrome 1
Ced	Levin Syndrome
Dysplasia, Cranioectodermal

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

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

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

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

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome	Kartagener Syndrome
Dextrocardia Bronchiectasis And Sinusitis	Pcd
Ciliary Motility Disorders	Ciliary Motility Disorder
Immotile Ciliary Syndrome	Ciliary Dyskinesia Primary
Ics	Polynesian Bronchiectasis
Dextrocardia-Bronchiectasis-Sinusitis Syndrome	Immotile Cilia Syndrome, Kartagener Type
Primary Ciliary Dyskinesia And Situs Inversus	Primary Ciliary Dyskinesia, Kartagener Type
Siewert Syndrome	Dyskinesia, Ciliary, Primary

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-RS05161	FUZ Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	FUZ	VGNC	VGNC:62396
Bos taurus	FUZ	VGNC	VGNC:29154
Macaca mulatta	FUZ	VGNC	VGNC:72788
Rattus norvegicus	FUZ	RGD	RGD:1310608
Mus musculus	FUZ	MGD	MGI:1917550
Canis familiaris	FUZ	VGNC	VGNC:41017

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