FUZ (fuzzy planar cell polarity protein)

Gene

• Entrez ID: 80199
• Gene name: Fuzzy planar cell polarity protein
• Gene symbol: FUZ
• Synonyms (NCBI Gene): CPLANE3, FY, NTD
• Chromosome: 19
• Chromosome location: 19q13.33
• 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 i

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387907204	G>A	Risk-factor	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant, intron variant
rs548706733	AGGCCCCACCTGCTGACGGGCGG>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, splice donor variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT042014	hsa-miR-484	CLASH	23622248
MIRT1007023	hsa-miR-1254	CLIP-seq
MIRT1007024	hsa-miR-1275	CLIP-seq
MIRT1007025	hsa-miR-181a	CLIP-seq
MIRT1007026	hsa-miR-181b	CLIP-seq
MIRT1007027	hsa-miR-181c	CLIP-seq
MIRT1007028	hsa-miR-181d	CLIP-seq
MIRT1007029	hsa-miR-3116	CLIP-seq
MIRT1007030	hsa-miR-3199	CLIP-seq
MIRT1007031	hsa-miR-4262	CLIP-seq
MIRT1007032	hsa-miR-4314	CLIP-seq
MIRT1007033	hsa-miR-4525	CLIP-seq
MIRT1007034	hsa-miR-4665-5p	CLIP-seq
MIRT1007035	hsa-miR-4667-5p	CLIP-seq
MIRT1007036	hsa-miR-4700-5p	CLIP-seq
MIRT1007037	hsa-miR-4723-5p	CLIP-seq
MIRT1007038	hsa-miR-625	CLIP-seq
MIRT1007039	hsa-miR-637	CLIP-seq
MIRT1007040	hsa-miR-661	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001736	Process	Establishment of planar polarity	ISS
GO:0001736	Process	Establishment of planar polarity	NAS	27158779
GO:0001843	Process	Neural tube closure	IMP	21840926
GO:0001843	Process	Neural tube closure	ISS
GO:0001942	Process	Hair follicle development	ISS
GO:0005515	Function	Protein binding	IPI	16189514, 27173435, 32296183, 33961781, 34819669, 35427153
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	NAS	27158779
GO:0008285	Process	Negative regulation of cell population proliferation	ISS
GO:0008589	Process	Regulation of smoothened signaling pathway	ISS
GO:0010172	Process	Embryonic body morphogenesis	ISS
GO:0015031	Process	Protein transport	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0021915	Process	Neural tube development	NAS	27158779
GO:0030030	Process	Cell projection organization	IEA
GO:0030336	Process	Negative regulation of cell migration	IMP	21840926
GO:0035091	Function	Phosphatidylinositol binding	ISS
GO:0042073	Process	Intraciliary transport	NAS	27158779
GO:0042995	Component	Cell projection	IEA
GO:0045724	Process	Positive regulation of cilium assembly	IMP	21840926
GO:0048704	Process	Embryonic skeletal system morphogenesis	ISS
GO:0060271	Process	Cilium assembly	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	ISS
GO:0090301	Process	Negative regulation of neural crest formation	ISS
GO:1902017	Process	Regulation of cilium assembly	NAS	27158779
GO:1905515	Process	Non-motile cilium assembly	IBA
GO:1905515	Process	Non-motile cilium assembly	IMP	21840926
GO:2000314	Process	Negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation	ISS

Other IDs

• MIM: 610622
• HGNC: 26219
• e!Ensembl: ENSG00000010361

Protein

• UniProt ID: Q9BT04
• Protein name: Protein fuzzy homolog
• Protein function: Probable planar cell polarity effector involved in cilium biogenesis. May regulate protein and membrane transport to the cilium. Proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved i
• PDB: 7Q3D
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF19036	Fuz_longin_1	10 → 138	First Longin domain of FUZ, MON1 and HPS1	Domain
  PF19037	Fuz_longin_2	174 → 269	Second Longin domain of FUZ, MON1 and HPS1	Domain
  PF19038	Fuz_longin_3	295 → 417	Third Longin domain of FUZ, MON1 and HPS1	Domain

• Sequence:

  MGEEGTGGTVHLLCLAASSGVPLFCRSSRGGAPARQQLPFSVIGSLNGVHMFGQNLEVQL
  SSARTENTTVVWKSFHDSITLIVLSSEVGISELRLERLLQMVFGAMVLLVGLEELTNIRN
  VERLKKDLRASYCLIDSFLGDSELIGDLTQCVDCVIPPEGSLLQEALSGFAEAAGTTFVS
  LVVSGRVVAATEGWWRLGTPEAVLLPWLVGSLPPQTARDYPVYLPHGSPTVPHRLLTLTL
  LPSLELCLLCGPSPPLSQLYPQLLERWWQPLLDPLRACLPLGPRALPSGFPLHTDILGLL
  LLHLELKRCLFTVEPLGDKEPSPEQRRRLLRNFYTLVTSTHFPPEPGPPEKTEDEVYQAQ
  LPRACYLVLGTEEPGTGVRLVALQLGLRRLLLLLSPQSPTHGLRSLATHTLHALTPLL

• Sequence length: 418

Pathways

Reactome:

Hedgehog 'off' state

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Short-rib thoracic dysplasia 6 with or without polydactyly	Likely pathogenic; Pathogenic	rs548706733	RCV000516118	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CAUDAL REGRESSION SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FUZ-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jeune thoracic dystrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MAJEWSKI SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural tube defect	association; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECT, FOLATE-SENSITIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS X-LINKED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural tube defects, susceptibility to	risk factor	ClinVar ClinVar, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acrania	Acrania	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	25500996		★☆☆☆☆ Found in Text Mining only
Anencephaly	Anencephaly	BEFREE	22124883, 2691919, 8826441		★☆☆☆☆ Found in Text Mining only
Anencephaly	Anencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arhinencephaly	Arrhinencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	ORPHANET_DG	21840926		★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	31421417		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	30028845		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33658400	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	6655667	Associate	★☆☆☆☆ Found in Text Mining only
Cataract Pulverulent	Congenital cataract	Pubtator	6655667	Associate	★☆☆☆☆ Found in Text Mining only
Caudal dysplasia syndrome	Caudal regression sequence	ORPHANET_DG	21840926		★☆☆☆☆ Found in Text Mining only
Caudal regression sequence	Caudal regression sequence	Orphanet			★☆☆☆☆ Found in Text Mining only
Caudal Regression Syndrome	Caudal regression sequence	ORPHANET_DG	21840926		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical spina bifida aperta	Cervical spina bifida aperta	Orphanet			★☆☆☆☆ Found in Text Mining only
Cervical spina bifida cystica	Cervical spina bifida cystica	Orphanet			★☆☆☆☆ Found in Text Mining only
Cervicothoracic spina bifida aperta	Cervicothoracic Spina Bifida	Orphanet			★☆☆☆☆ Found in Text Mining only
Cervicothoracic spina bifida cystica	Cervicothoracic Spina Bifida	Orphanet			★☆☆☆☆ Found in Text Mining only
Chiari malformation type II	Chiari malformation	ORPHANET_DG	21840926		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	29068549	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	BEFREE	22124883		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniorachischisis	Craniorachischisis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diastematomyelia	Diastematomyelia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Double ureter	Double Ureter	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectopic kidney	Ectopic kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalocele	Encephalocele	BEFREE	22124883		★☆☆☆☆ Found in Text Mining only
Exencephaly	Anencephaly	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	31562761		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	2691919		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism-Jaw Tumor Syndrome	Hyperparathyroidism-Jaw Tumor Syndrome	BEFREE	29142233		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	29557755		★☆☆☆☆ Found in Text Mining only
Iniencephaly	Anencephaly	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	18344944	Associate	★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lumbosacral spina bifida aperta	Lumbosacral Spina Bifida Aperta	Orphanet			★☆☆☆☆ Found in Text Mining only
Lumbosacral spina bifida cystica	Lumbosacral Spina Bifida Cystica	Orphanet			★☆☆☆☆ Found in Text Mining only
Majewski Syndrome	Majewski Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningomyelocele	Meningomyelocele	BEFREE	23024041		★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple lipomata	Multiple Lipomata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25192723		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	10517251, 10545599, 10672589, 10732818, 19235830, 19808787, 21792640, 24013316, 27768235		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural Tube Defect	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural Tube Defect	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurenteric Cyst	Neurenteric Cyst	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29421438		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	19137581		★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sacral agenesis	Sacral Agenesis	ORPHANET_DG	21840926		★☆☆☆☆ Found in Text Mining only
Sacral agenesis	Sacral Agenesis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Sacral agenesis	Sacral Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	16283668, 22124883, 2691919, 8826441		★☆☆☆☆ Found in Text Mining only
Spina bifida aperta of cervical spine	Spina Bifida	ORPHANET_DG	21840926		★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Cord Myelodysplasia	Spinal Cord Myelodysplasia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33658400	Inhibit	★☆☆☆☆ Found in Text Mining only
Tethered Cord Syndrome	Primary Tethered cord syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Thoracolumbosacral spina bifida aperta	Thoracolumbosacral spina bifida aperta	Orphanet			★☆☆☆☆ Found in Text Mining only
Thoracolumbosacral spina bifida cystica	Thoracolumbosacral spina bifida cystica	Orphanet			★☆☆☆☆ Found in Text Mining only
Total spina bifida aperta	Spina Bifida Cystica	Orphanet			★☆☆☆☆ Found in Text Mining only
Total spina bifida cystica	Spina Bifida Cystica	Orphanet			★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	23857276		★☆☆☆☆ Found in Text Mining only
Upper thoracic spina bifida aperta	Upper Thoracic Spina Bifida Aperta	Orphanet			★☆☆☆☆ Found in Text Mining only
Upper thoracic spina bifida cystica	Upper Thoracic Spina Bifida Cystica	Orphanet			★☆☆☆☆ Found in Text Mining only
Urinary Tract Infections	Urinary tract infection	Pubtator	18344944	Associate	★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only