INTU - inturned planar cell polarity protein Gene

Homo sapiens

Also known as INT; OFD17; PDZD6; PDZK6; SRTD20; CPLANE4

Gene ID: 27152 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA	Protein	Name
NM_015693.4	NP_056508.2	protein inturned

Protein Preferred Names

Protein Names

protein inturned

PDZ domain containing 6

Related Diseases

Diseases

Alias

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

Diseases	Alias
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.	Product Name	Effect	Purity	Rare Diseases
HY-RS06859	INTU Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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