Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	80199
Gene name	Fuzzy planar cell polarity protein
Gene symbol	FUZ
Synonyms (NCBI Gene)	CPLANE3FYNTD
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

Show/Hide all (2)

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

Show/Hide all (19)

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

Show/Hide all (30)

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

MIM	HGNC	e!Ensembl
610622	26219	ENSG00000010361

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

Interactions

View interactions

	Reactome
			Hedgehog 'off' state

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Short-rib thoracic dysplasia 6 with or without polydactyly	Likely pathogenic; Pathogenic	rs548706733	RCV000516118

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Uncertain significance	rs749953771	RCV005927274
FUZ-related disorder	Uncertain significance; Benign; Likely benign	rs376627265, rs12610577, rs754427912, rs570362032, rs374092791, rs2305921, rs146191083	RCV003405945 RCV003974605 RCV003963968 RCV003931565 RCV003957052 RCV003976357 RCV003923265
Jeune thoracic dystrophy	Conflicting classifications of pathogenicity	rs368721486	RCV000515994
Neural tube defect	association; Uncertain significance; Benign; Likely benign	rs762455950, rs35499921	RCV001799552 RCV002505479
Neural tube defects, susceptibility to	risk factor	rs387907204, rs139365610, rs137955120	RCV000024613 RCV000024614 RCV000024615
See cases	Uncertain significance	rs756120394, rs2514444357	RCV003331546 RCV003331547

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Inhibit	33658400
Carcinogenesis	Associate	33658400
Cataract	Associate	6655667
Cataract Pulverulent	Associate	6655667
Ciliopathies	Associate	29068549
COVID 19	Associate	35477024
Glucosephosphate Dehydrogenase Deficiency	Associate	27267757
Infections	Associate	35477024
Kidney Diseases	Associate	18344944
Neoplasms	Associate	33658400
Renal Insufficiency	Associate	18344944
Renal Insufficiency Chronic	Associate	24409300
Reperfusion Injury	Associate	18344944
Short rib polydactyly syndrome Beemer type	Associate	29068549
Squamous Cell Carcinoma of Head and Neck	Inhibit	33658400
Urinary Tract Infections	Associate	18344944

FUZ (fuzzy planar cell polarity protein)