INTU - inturned planar cell polarity protein Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 27152

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	26644512	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in embryonic digit morphogenesis	IMP IMP: Inferred from mutant phenotype	27158779	GOA
involved in roof of mouth development	IMP IMP: Inferred from mutant phenotype	27158779	GOA
involved in tongue morphogenesis	IMP IMP: Inferred from mutant phenotype	27158779	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in ciliary basal body	IDA IDA: Inferred from direct assay	26644512	GOA
located in motile cilium	IDA IDA: Inferred from direct assay	26644512	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
protein inturned	PDZ domain containing 6

INTU Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	INTU	Q9ULD6	DAAM1	Homo sapiens	Q9Y4D1	Anti Tag CoIP	26644512
Intra	INTU	Q9ULD6	NPHP4	Homo sapiens	O75161	Anti Tag CoIP	26644512
Intra	INTU	Q9ULD6	FUZ	Homo sapiens	Q9BT04	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS06859	INTU Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	INTU	NCBI