FUZ - fuzzy planar cell polarity protein Gene

Also Known as FY; NTD; CPLANE3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 80199

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in negative regulation of cell migration	IMP IMP: Inferred from mutant phenotype	21840926	GOA
involved in neural tube closure	IMP IMP: Inferred from mutant phenotype	21840926	GOA
involved in non-motile cilium assembly	IMP IMP: Inferred from mutant phenotype	21840926	GOA
involved in positive regulation of cilium assembly	IMP IMP: Inferred from mutant phenotype	21840926	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 fuzzy homolog	ciliogenesis and planar polarity effector 3

FUZ Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	FUZ	Q9BT04	INTU	Homo sapiens	Q9ULD6	Anti Tag CoIP	33961781
Intra	FUZ	Q9BT04	INTU	Homo sapiens	Q9ULD6	TAP	27173435
Intra	FUZ	Q9BT04	CPLANE2	Homo sapiens	Q9BU20	Anti Tag CoIP	33961781
Intra	FUZ	Q9BT04	CPLANE2	Homo sapiens	Q9BU20	Y2H Array	32296183
Intra	FUZ	Q9BT04	CPLANE2	Homo sapiens	Q9BU20	Y2H Prey Pooling	32296183
Intra	FUZ	Q9BT04	CPLANE2	Homo sapiens	Q9BU20	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

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)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS05161	FUZ Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	FUZ	NCBI