INTU - inturned planar cell polarity protein Gene

中文名称：翻转平面细胞极性蛋白

种属: Homo sapiens

同用名: INT; OFD17; PDZD6; PDZK6; SRTD20; CPLANE4

基因 ID: 27152 | 基因类型: protein coding

关于 INTU

Cytogenetic location: 4q28.1 Genomic coordinates (GRCh38): 4:127,622,953-127,726,737 (from NCBI)

This gene has 8 transcripts (splice variants), 205 orthologues and is associated with 2 phenotypes. Ubiquitous expression in ovary (RPKM 3.1), testis (RPKM 2.8) and 24 other tissues.

功能概要

参与胚胎数字形态发生；上颚发育；和舌头形态发生。位于睫状基体和活动纤毛中。涉及窒息性胸廓营养不良和口面指综合征 XVII。 [由基因组资源联盟提供，2022 年 4 月]

Involved in embryonic digit morphogenesis; roof of mouth development; and tongue morphogenesis. Located in ciliary basal body and motile cilium. Implicated in asphyxiating thoracic dystrophy and orofaciodigital syndrome XVII. [provided by Alliance of Genome Resources, Apr 2022]

INTU 基因产物(1)

mRNA	Protein	Name
NM_015693.4	NP_056508.2	protein inturned

基因本体论

分子功能
生物过程
细胞组分

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	26644512	GOA

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

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in ciliary basal body	IDA IDA: 通过直接分析推断	26644512	GOA
located in motile cilium	IDA IDA: 通过直接分析推断	26644512	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 inturned

PDZ domain containing 6

INTU 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	INTU	Q9ULD6	DAAM1	Homo sapiens	Q9Y4D1	Anti Tag CoIP	26644512
种属内	INTU	Q9ULD6	NPHP4	Homo sapiens	O75161	Anti Tag CoIP	26644512
种属内	INTU	Q9ULD6	FUZ	Homo sapiens	Q9BT04	Anti Tag CoIP	33961781

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

Short-Rib Thoracic Dysplasia 20 With Polydactyly

SRTD20

Orofaciodigital Syndrome Xvii

Orofaciodigital Syndrome 17	OFD17
Ofds Xvii	Oral-Facial-Digital Syndrome, Type Xvii

Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly

SRTD7	Srps5
Short Rib-Polydactyly Syndrome Type V	Short-Rib Thoracic Dysplasia 7/20 With Polydactyly, Digenic
Short Rib-Polydactyly Syndrome, Type V	Short Rib-Polydactyly Syndrome Type 5
Srps Type V	SRTD7/20
Short-Rib Thoracic Dysplasia 7 Without Polydactyly

Mohr Syndrome

Ofd2	Orofaciodigital Syndrome Ii
Oral-Facial-Digital Syndrome Type 2	Ofds Ii
Oral-Facial-Digital Syndrome, Type Ii	Orofaciodigital Syndrome 2
Ofd Syndrome 2	Ofds 2
Oral Facial Digital Syndrome 2	Oral Facial Digital Syndrome Type 2
Orofaciodigital Syndrome Type 2	Oral-Facial-Digital Syndrome, Type 2

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

Nephronophthisis

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

Microcephaly And Chorioretinopathy 2

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

Otosalpingitis

Eustachian Salpingitis	Eustachian Tube Salpingitis
Rhinosalpingitis	Tubotympanitis
Eustachian Tube Inflammation	Salpingitis Of Ear

Myasthenic Syndrome, Congenital, 10

Congenital Myasthenic Syndrome 10	CMS10
Lgm	Myasthenia, Limb-Girdle, Familial
Myasthenia, Limb-Girdle, Familial, Formerly	Lgm, Formerly
Congenital Myasthenic Syndrome Type Ib, Formerly	Cms1b, Formerly
Cms Ib, Formerly	Myasthenic Myopathy, Formerly
Familial Limb-Girdle Myasthenia	Cms1b
Cms Ib	Congenital Myasthenic Syndrome Type 1b
Congenital Myasthenic Syndrome Type Ib	Myasthenic Myopathy
Myasthenic Syndrome, Congenital, Type 10	Congenital Myasthenic Syndrome Ib
Myopathy In Myasthenia Gravis

Ellis-Van Creveld Syndrome

Chondroectodermal Dysplasia	Mesoectodermal Dysplasia
EVC	Ellis Van Creveld Syndrome
Mesodermic Dysplasia	Ellis-Van Creveld Dysplasia

Lissencephaly 6

Lis6

Eustachian Tube Disease

Eustachian Tube Disorder	Auditory Tube Disorder
Disease Of Eustachian Tube	Eustachian Tube Dysfunction
Et- [Eustachian Tube Disorder]	Etd - [Eustachian Tube Dysfunction]

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

Cleft Lip/Palate

Cleft Lip And Palate	Alveolar Cleft Lip And Palate
Cleft Lip-Alveolus-Palate Syndrome	Flp

Acromelic Frontonasal Dysostosis

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

Non-Suppurative Otitis Media

Nonsuppurative Otitis Media

Polydactyly

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

Smith-Mccort Dysplasia 1

Smith-Mccort Dysplasia	SMC1
Smc	Smith Mccort Dysplasia
Smith-Mccort Dwarfism

Retinal Arteries, Tortuosity Of

Retinal Arterial Tortuosity	Retinal Hemorrhage With Vascular Tortuosity
RATOR	Tortuosity Of Retinal Arteries
Retinal Arteriolar Tortuosity	Familial Isolated Retinal Arterial Tortuosity
Tortuosity, Arteries, Retinal

Spina Bifida Occulta

Dyggve-Melchior-Clausen Disease

Dyggve-Melchior-Clausen Syndrome	DMC
Dmc Disease	Pseudo-Morquio Disease Type I
Dmc Syndrome

Short-Rib Thoracic Dysplasia 12

Beemer-Langer Syndrome	Type Iv Short Rib Polydactyly Syndrome
Short Rib-Polydactyly Syndrome Type 4	Short Rib-Polydactyly Syndrome, Beemer Type
SRTD12	Short Rib-Polydactyly Syndrome, Type Iv
Srps4	Srps Iv
Short Rib Syndrome, Beemer Type	Beemer Langer Syndrome
Srps Type 4	Short Rib Polydactyly Syndrome Beemer-Langer Type
Short Rib-Polydactyly Syndrome Beemer Type	Short Rib-Polydactyly Syndrome Type Iv
Short Rib-Polydactyly Syndrome, Beemer-Langer Type

Cranioectodermal Dysplasia

Sensenbrenner Syndrome	Levin Syndrome 1
Ced	Levin Syndrome
Dysplasia, Cranioectodermal

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-RS06859	INTU Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	INTU	VGNC	VGNC:30235
Rattus norvegicus	INTU	RGD	RGD:1309446
Felis catus	INTU	VGNC	VGNC:78517
Macaca mulatta	INTU	VGNC	VGNC:73680
Mus musculus	INTU	MGD	MGI:2443752
Canis familiaris	INTU	VGNC	VGNC:42059

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