• Gene id: 80199

Gene Summary

• Gene Symbol: FUZ   Gene   UCSC   Ensembl
• Aliases: CPLANE3, FY, NTD
• Gene name: fuzzy planar cell polarity protein
• Alternate names: protein fuzzy homolog, ciliogenesis and planar polarity effector 3, fuzzy homolog,
• Gene location: 19q13.33 (49817375: 49806865)     Exons: 18     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 608881

Protein Summary

• Protein general information: Q9BT04  
  • Name: Protein fuzzy homolog
  • Length: 418  
  • Mass: 45679
• Sequence:

  MGEEGTGGTVHLLCLAASSGVPLFCRSSRGGAPARQQLPFSVIGSLNGVHMFGQNLEVQLSSARTENTTVVWKSF
  HDSITLIVLSSEVGISELRLERLLQMVFGAMVLLVGLEELTNIRNVERLKKDLRASYCLIDSFLGDSELIGDLTQ
  CVDCVIPPEGSLLQEALSGFAEAAGTTFVSLVVSGRVVAATEGWWRLGTPEAVLLPWLVGSLPPQTARDYPVYLP
  HGSPTVPHRLLTLTLLPSLELCLLCGPSPPLSQLYPQLLERWWQPLLDPLRACLPLGPRALPSGFPLHTDILGLL
  LLHLELKRCLFTVEPLGDKEPSPEQRRRLLRNFYTLVTSTHFPPEPGPPEKTEDEVYQAQLPRACYLVLGTEEPG
  TGVRLVALQLGLRRLLLLLSPQSPTHGLRSLATHTLHALTPLL

• Structural information:
  • Interpro: IPR026069  
  • STRING: ENSP00000313309
• Other Databases: GeneCards:  FUZ  Malacards:  FUZ

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060271	cilium assembly	ISS	biological process
GO:0010172	embryonic body morphogenesis	ISS	biological process
GO:0001942	hair follicle development	ISS	biological process
GO:0048704	embryonic skeletal system morphogenesis	ISS	biological process
GO:0008589	regulation of smoothened signaling pathway	ISS	biological process
GO:0001843	neural tube closure	ISS	biological process
GO:0001736	establishment of planar polarity	ISS	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0090301	negative regulation of neural crest formation	ISS	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	ISS	biological process
GO:1905515	non-motile cilium assembly	IMP	biological process
GO:0001843	neural tube closure	IMP	biological process
GO:2000314	negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation	ISS	biological process
GO:0030336	negative regulation of cell migration	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0045724	positive regulation of cilium assembly	IMP	biological process
GO:0008285	negative regulation of cell population proliferation	ISS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray