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Aliases for FUZ Gene

Aliases for FUZ Gene

  • Fuzzy Planar Cell Polarity Protein 2 3 5
  • FY 3 4
  • Fuzzy Homolog (Drosophila) 2
  • Protein Fuzzy Homolog 3
  • Fuzzy Homolog 3
  • NTD 3

External Ids for FUZ Gene

Previous GeneCards Identifiers for FUZ Gene

  • GC19M055002
  • GC19M050310
  • GC19M046686

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 Upper Thoracic Spina Bifida Cystica and Cervicothoracic Spina Bifida Cystica. Among its related pathways are Signaling by Hedgehog and Signaling by GPCR.

UniProtKB/Swiss-Prot for FUZ Gene

  • 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 in the recruitment of peripheral IFT-A proteins to basal bodies. May regulate the morphogenesis of hair follicles which depends on functional primary cilia (By similarity).

Additional gene information for FUZ Gene

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

Genomics for FUZ Gene

Regulatory Elements for FUZ Gene

Enhancers for FUZ Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H049816 1.7 FANTOM5 ENCODE dbSUPER 11.5 -1.4 -1370 4 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YBX1 ZBTB7B YY1 SLC30A9 PRR12 PTOV1-AS2 PNKP PTOV1 SNRNP70 PIH1D1 POLD1 NUP62 SNORD35A AP2A1
GH19H050328 1.8 FANTOM5 ENCODE dbSUPER 10 -514.2 -514227 5 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 PRR12 NUP62 POLD1 ENSG00000268047 PTOV1-AS2 SNORD35A KCNC3 CTU1 PNKP ZNF473
GH19H049812 1.5 FANTOM5 ENCODE dbSUPER 10.7 +3.8 3801 2 FOXA2 PKNOX1 ATF1 SIN3A ZNF2 YY1 ETS1 ZNF766 GLIS2 ELK1 PRMT1 PTOV1 CPT1C ADM5 FUZ TSKS AP2A1 PTOV1-AS2 PTOV1-AS1 PTH2
GH19H049804 1.5 Ensembl ENCODE dbSUPER 10.1 +9.6 9642 5 PKNOX1 ATF1 SIN3A ETS1 ZNF121 GLIS2 ZNF143 ATF7 RUNX3 SP5 LOC105372435 PRR12 RPS11 SNORD35A RPL13A PIH1D1 SNORD35B FUZ ALDH16A1 IRF3
GH19H049848 1.2 Ensembl ENCODE 12.2 -31.1 -31137 0 BATF ZNF121 FOS ATF7 ETV6 RUNX3 IKZF2 SP3 ZBTB11 JUNB PRR12 SNRNP70 FUZ MED25 ADM5 CPT1C PRMT1 PIH1D1 PTOV1 MIR6800
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FUZ on UCSC Golden Path with GeneCards custom track

Promoters for FUZ Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000110964 -724 2201 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YBX1 ZBTB7B YY1 SLC30A9

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

Genomic Location for FUZ Gene

Chromosome:
19
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

Genes around FUZ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FUZ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FUZ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FUZ Gene

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:
    • Interacts with C5orf42/JBTS17. Interacts with INTU and WDPCP; FUZ, INTU and WDPCP probably form the core CPLANE (ciliogenesis and planar polarity effectors) complex.
    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

Post-translational modifications for FUZ Gene

  • Ubiquitination at isoforms=2, 3319
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FUZ Gene

Domains & Families for FUZ Gene

Gene Families for FUZ Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for FUZ Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FUZ Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BT04

UniProtKB/Swiss-Prot:

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

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. Proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies. May regulate the morphogenesis of hair follicles which depends on functional primary cilia (By similarity).

Phenotypes From GWAS Catalog for FUZ Gene

Gene Ontology (GO) - Molecular Function for FUZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with FUZ: view
genes like me logo Genes that share phenotypes with FUZ: view

Human Phenotype Ontology for FUZ Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for FUZ

CRISPR Products

miRNA for FUZ Gene

miRTarBase miRNAs that target FUZ

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FUZ
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for FUZ Gene

Localization for FUZ Gene

Subcellular locations from UniProtKB/Swiss-Prot for FUZ Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, cilium basal body.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FUZ gene
Compartment Confidence
extracellular 5
cytoskeleton 3
cytosol 3
plasma membrane 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

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:0042995 cell projection IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with FUZ: view

Pathways & Interactions for FUZ Gene

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

Pathways by source for FUZ Gene

Interacting Proteins for FUZ Gene

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:0006810 transport IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with FUZ: view

No data available for SIGNOR curated interactions for FUZ Gene

Drugs & Compounds for FUZ Gene

No Compound Related Data Available

Transcripts for FUZ Gene

Unigene Clusters for FUZ Gene

Fuzzy planar cell polarity protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FUZ
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for FUZ Gene

Protein differential expression in normal tissues from HIPED for FUZ Gene

This gene is overexpressed in Fetal Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FUZ Gene



Protein tissue co-expression partners for FUZ Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FUZ Gene:

FUZ

SOURCE GeneReport for Unigene cluster for FUZ Gene:

Hs.288800

Evidence on tissue expression from TISSUES for FUZ Gene

  • Eye(4.2)
  • Heart(4.2)
  • Intestine(4.2)
  • Lung(4.2)
  • Nervous system(3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FUZ Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
Thorax:
  • aorta
  • bronchus
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • trachea
Abdomen:
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • placenta
  • prostate
  • rectum
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • forearm
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with FUZ: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for FUZ Gene

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 33 34
  • 99.76 (n)
dog
(Canis familiaris)
Mammalia FUZ 33 34
  • 87.8 (n)
cow
(Bos Taurus)
Mammalia FUZ 33 34
  • 87.4 (n)
rat
(Rattus norvegicus)
Mammalia Fuz 33
  • 81.97 (n)
mouse
(Mus musculus)
Mammalia Fuz 33 16 34
  • 81.69 (n)
oppossum
(Monodelphis domestica)
Mammalia FUZ 34
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FUZ 34
  • 36 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 60 (a)
OneToMany
-- 34
  • 54 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia fuz 33
  • 56.37 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC797090 33
  • 53.59 (n)
FUZ 34
  • 43 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008489 33
  • 46.16 (n)
fruit fly
(Drosophila melanogaster)
Insecta fy 33 34
  • 45.73 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9644 34
  • 49 (a)
OneToOne
Species where no ortholog for FUZ was found in the sources mined by GeneCards:
  • 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
rs794729668 Pathogenic 49,818,457(+) GCACT(A/G)CCTGC upstream-variant-2KB, reference, missense
rs74863643 Likely benign 49,819,225(+) GCTCC(C/G/T)GAGTC upstream-variant-2KB, reference, synonymous-codon
rs77400039 Likely benign 49,818,601(+) GAGAC(A/G)GACTT upstream-variant-2KB, reference, synonymous-codon
rs143148835 Uncertain significance 49,819,238(+) ACGTA(C/G)AATGT upstream-variant-2KB, reference, missense
rs199743509 Uncertain significance 49,818,565(+) TACCC(G/T)CACAG intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv53n68 CNV loss 17160897
nsv1140251 OTHER inversion 24896259
nsv1160655 CNV deletion 26073780
nsv470150 CNV gain 18288195
nsv953600 CNV deletion 24416366
nsv9739 CNV gain+loss 18304495

Variation tolerance for FUZ Gene

Residual Variation Intolerance Score: 71.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.05; 68.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FUZ Gene

Human Gene Mutation Database (HGMD)
FUZ
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FUZ

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FUZ Gene

Disorders for FUZ Gene

MalaCards: The human disease database

(15) MalaCards diseases for FUZ Gene - From: HGMD, OMIM, Orphanet, DISEASES, and GeneCards

Relevant External Links for FUZ

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FUZ
genes like me logo Genes that share disorders with FUZ: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 (Developmental dynamics : an official publication of the American Association of Anatomists 2011) 2 3 60
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  3. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 60
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60
  5. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. (PMID: 23824909) Chen Y … Ge F (Molecular & cellular proteomics : MCP 2013) 3 60

Products for FUZ Gene

Sources for FUZ Gene

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