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] See more...

Aliases for FUZ Gene

Aliases for FUZ Gene

  • Fuzzy Planar Cell Polarity Protein 2 3 5
  • Ciliogenesis And Planar Polarity Effector 3 2 3
  • Protein Fuzzy Homolog 3 4
  • CPLANE3 2 3
  • FY 3 4
  • Fuzzy Homolog (Drosophila) 2
  • Fuzzy Homolog 3
  • FLJ22688 2
  • NTD 3
  • FUZ 5
  • Fy 2

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 GPCR and Signaling by Hedgehog.

UniProtKB/Swiss-Prot Summary 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).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FUZ Gene

Genomics for FUZ Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FUZ Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FUZ on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FUZ

Top Transcription factor binding sites by QIAGEN in the FUZ gene promoter:
  • E47
  • Hand1
  • Sp1

Genomic Locations for FUZ Gene

Genomic Locations for FUZ Gene
chr19:49,806,866-49,817,376
(GRCh38/hg38)
Size:
10,511 bases
Orientation:
Minus strand
chr19:50,310,123-50,320,633
(GRCh37/hg19)
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 CPLANE1. 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; 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 Lys319
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FUZ Gene

Domains & Families for FUZ Gene

Gene Families for FUZ Gene

HGNC:
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:
  • cDNA FLJ58837 (B4DHF8_HUMAN)
  • Protein fuzzy homolog (FUZZY_HUMAN)

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FUZ

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 4
cytoskeleton 4
cytosol 3
plasma membrane 2
nucleus 2
mitochondrion 1
golgi apparatus 1
peroxisome 0
endoplasmic reticulum 0

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 HDA 19056867
genes like me logo Genes that share ontologies with FUZ: view

Pathways & Interactions for FUZ Gene

PathCards logo

SuperPathways for FUZ Gene

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

Pathways by source 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:0007275 multicellular organism development IEA --
GO:0008285 negative regulation of cell proliferation ISS --
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

(1) Drugs for FUZ Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
5-methyl-2'-deoxypseudouridine Experimental Pharma Target 0
genes like me logo Genes that share compounds with FUZ: view

Transcripts for FUZ Gene

mRNA/cDNA for FUZ Gene

4 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FUZ

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

Expression for FUZ Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FUZ Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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 and MOPED for FUZ Gene



Protein tissue co-expression partners for FUZ Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FUZ

SOURCE GeneReport for Unigene cluster for FUZ Gene:

Hs.288800

Evidence on tissue expression from TISSUES for FUZ Gene

  • Heart(4.3)
  • Lung(4.3)
  • Intestine(4.3)
  • Eye(4.2)
  • Nervous system(3.6)
  • Skin(2.1)

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
Regions:
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

No data available for 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 30 31
  • 99.76 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FUZ 30 31
  • 87.8 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FUZ 30 31
  • 87.4 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fuz 30
  • 81.97 (n)
Mouse
(Mus musculus)
Mammalia Fuz 30 17 31
  • 81.69 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FUZ 31
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FUZ 31
  • 36 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 60 (a)
OneToMany
-- 31
  • 54 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fuz 30
  • 56.37 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC797090 30
  • 53.59 (n)
FUZ 31
  • 43 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008489 30
  • 46.16 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta fy 30 31
  • 45.73 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9644 31
  • 49 (a)
OneToOne
Species where no ortholog for FUZ was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FUZ: view image

Paralogs for FUZ Gene

No data available for Paralogs for FUZ Gene

Variants for FUZ Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FUZ Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
707831 Likely Benign: not provided 49,807,348(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
708252 Benign: not provided 49,808,587(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
721888 Benign: not provided 49,811,658(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
727034 Likely Benign: not provided 49,812,745(-) G/C INTRON_VARIANT
737945 Likely Benign: not provided 49,811,393(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for FUZ Gene

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)

Additional Variant Information for FUZ Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for FUZ Gene

MalaCards: The human disease database

(24) MalaCards diseases for FUZ Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

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
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. (PMID: 29987050) Xiao T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2018) 3
  4. In vitro study of FUZ as a novel potential therapeutic target in non-small-cell lung cancer. (PMID: 29421438) He M … Wang L (Life sciences 2018) 3
  5. Planar cell polarity gene Fuz triggers apoptosis in neurodegenerative disease models. (PMID: 30026307) Chen ZS … Chan HYE (EMBO reports 2018) 3

Products for FUZ Gene

Sources for FUZ Gene