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Aliases for FUZ Gene

Aliases for FUZ Gene

  • Fuzzy Planar Cell Polarity Protein 2 3
  • NTD 3 6
  • FY 3 4
  • Fuzzy Homolog (Drosophila) 2
  • Protein Fuzzy Homolog 3
  • Fuzzy Homolog 3

External Ids for FUZ Gene

Summaries for FUZ Gene

Entrez Gene Summary for FUZ Gene

  • 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]

GeneCards Summary for FUZ Gene

FUZ (Fuzzy Planar Cell Polarity Protein) is a Protein Coding gene. Diseases associated with FUZ include neural tube defects and thoracolumbosacral spina bifida cystica.

UniProtKB/Swiss-Prot for FUZ Gene

  • Probable planar cell polarity effector involved in cilium biogenesis. May regulate protein and membrane transport to the cilium. May regulate the morphogenesis of hair follicles which depends on functional primary cilia (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FUZ Gene

Genomics for FUZ Gene

Genomic Location for FUZ Gene

Start:
49,806,866 bp from pter
End:
49,817,376 bp from pter
Size:
10,511 bases
Orientation:
Minus strand

Genomic View for FUZ Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FUZ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FUZ Gene

Regulatory Elements for FUZ Gene

Transcription factor binding sites by QIAGEN in the FUZ gene promoter:

Proteins for FUZ Gene

  • Protein details for FUZ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BT04-FUZZY_HUMAN
    Recommended name:
    Protein fuzzy homolog
    Protein Accession:
    Q9BT04
    Secondary Accessions:
    • B2RD86
    • B5MDH0
    • Q6PJY0
    • Q9H613

    Protein attributes for FUZ Gene

    Size:
    418 amino acids
    Molecular mass:
    45679 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH10092.1; Type=Frameshift; Positions=265; Evidence={ECO:0000305};

    Alternative splice isoforms for FUZ Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FUZ Gene

Proteomics data for FUZ Gene at MOPED

Post-translational modifications for FUZ Gene

No data available for DME Specific Peptides for FUZ Gene

Domains for FUZ Gene

Protein Domains for FUZ Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

FUZZY_HUMAN
Family:
  • Belongs to the fuzzy family.:
    • Q9BT04
genes like me logo Genes that share domains with FUZ: view

No data available for Gene Families for FUZ Gene

Function for FUZ Gene

Molecular function for FUZ Gene

UniProtKB/Swiss-Prot Function: Probable planar cell polarity effector involved in cilium biogenesis. May regulate protein and membrane transport to the cilium. May regulate the morphogenesis of hair follicles which depends on functional primary cilia (By similarity).
genes like me logo Genes that share phenotypes with FUZ: view

miRNA for FUZ Gene

miRTarBase miRNAs that target FUZ

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targeting and HOMER Transcription for FUZ Gene

Localization for FUZ Gene

Subcellular locations from UniProtKB/Swiss-Prot for FUZ Gene

Cytoplasm. Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FUZ Gene COMPARTMENTS Subcellular localization image for FUZ gene
Compartment Confidence
cytoskeleton 2
cytosol 1
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for FUZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with FUZ: view

Pathways for FUZ Gene

SuperPathways for FUZ Gene

No Data Available

Gene Ontology (GO) - Biological Process for FUZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001736 establishment of planar polarity ISS --
GO:0001843 neural tube closure ISS --
GO:0001942 hair follicle development ISS --
GO:0008285 negative regulation of cell proliferation ISS --
GO:0008589 regulation of smoothened signaling pathway ISS --
genes like me logo Genes that share ontologies with FUZ: view

No data available for Pathways by source for FUZ Gene

Transcripts for FUZ Gene

Unigene Clusters for FUZ Gene

Fuzzy planar cell polarity protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FUZ Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g · 2h ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ·
SP1: - - - - -
SP2: - - - -
SP3: - - - - - -
SP4: - - - - -
SP5: - - - - - - -
SP6: - -
SP7:
SP8: - - - - - - - - - -
SP9: - - - - - - - - - - - -
SP10: - - - - - - - -
SP11: - -
SP12:
SP13: - - - - -
SP14: - - - -
SP15: - - - - -
SP16:
SP17: -

ExUns: 10c · 10d ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15
SP1:
SP2:
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for FUZ Gene

GeneLoc Exon Structure for
FUZ
ECgene alternative splicing isoforms for
FUZ

Expression for FUZ Gene

mRNA expression in normal human tissues for FUZ Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for FUZ Gene

SOURCE GeneReport for Unigene cluster for FUZ Gene Hs.288800

genes like me logo Genes that share expressions with FUZ: view

Orthologs for FUZ Gene

This gene was present in the common ancestor of animals.

Orthologs for FUZ Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FUZ 36
  • 99.76 (n)
  • 100 (a)
FUZ 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FUZ 36
  • 87.4 (n)
  • 90.19 (a)
FUZ 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FUZ 36
  • 87.8 (n)
  • 90.19 (a)
FUZ 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fuz 36
  • 81.69 (n)
  • 87.23 (a)
Fuz 16
Fuz 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FUZ 37
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FUZ 37
  • 36 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fuz 36
  • 81.97 (n)
  • 85.35 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 54 (a)
OneToMany
-- 37
  • 60 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia fuz 36
  • 56.37 (n)
  • 53.77 (a)
zebrafish
(Danio rerio)
Actinopterygii FUZ 37
  • 43 (a)
OneToOne
LOC797090 36
  • 53.59 (n)
  • 49.74 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008489 36
  • 46.16 (n)
  • 34.89 (a)
fruit fly
(Drosophila melanogaster)
Insecta fy 36
  • 45.73 (n)
  • 32.85 (a)
fy 37
  • 29 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9644 37
  • 49 (a)
OneToOne
Species with no ortholog for FUZ:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FUZ Gene

ENSEMBL:
Gene Tree for FUZ (if available)
TreeFam:
Gene Tree for FUZ (if available)

Paralogs for FUZ Gene

No data available for Paralogs for FUZ Gene

Variants for FUZ Gene

Sequence variations from dbSNP and Humsavar for FUZ Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs1290632 -- 49,810,635(+) gattg(C/T)gccat intron-variant
rs2286948 -- 49,813,497(+) CTAAA(C/T)GGAAA upstream-variant-2KB, utr-variant-5-prime
rs2305918 -- 49,812,516(-) TGTTA(A/T)TTTGG intron-variant
rs2305919 -- 49,812,441(-) GTTGG(G/T)CTGAG intron-variant
rs2305920 -- 49,809,618(+) CAAGC(C/G)TAGGG intron-variant, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for FUZ Gene

Variant ID Type Subtype PubMed ID
nsv9739 CNV Gain+Loss 18304495
nsv912269 CNV Loss 21882294
nsv470150 CNV Gain 18288195
dgv53n68 CNV Loss 17160897
nsv912272 CNV Loss 21882294

Relevant External Links for FUZ Gene

HapMap Linkage Disequilibrium report
FUZ
Human Gene Mutation Database (HGMD)
FUZ

Disorders for FUZ Gene

(1) OMIM Diseases for FUZ Gene (610622)

(1) University of Copenhagen DISEASES for FUZ Gene

genes like me logo Genes that share disorders with FUZ: view

No data available for UniProtKB/Swiss-Prot for FUZ Gene

Publications for FUZ Gene

  1. PCP effector proteins inturned and fuzzy play nonredundant roles in the patterning but not convergent extension of mammalian neural tube. (PMID: 21761479) Heydeck W. … Liu A. (Dev. Dyn. 2011) 2 3
  2. Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans. (PMID: 21840926) Seo J.H. … Torban E. (Hum. Mol. Genet. 2011) 3
  3. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. (PMID: 23824909) Chen Y. … Ge F. (Mol. Cell Proteomics 2013) 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 4
  5. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J. … Lucas S.M. (Nature 2004) 4

Products for FUZ Gene

Sources for FUZ Gene

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