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FUZ fuzzy planar cell polarity protein [ Homo sapiens (human) ]

Gene ID: 80199, updated on 12-Aug-2022

Summary

Official Symbol
FUZprovided by HGNC
Official Full Name
fuzzy planar cell polarity proteinprovided by HGNC
Primary source
HGNC:HGNC:26219
See related
Ensembl:ENSG00000010361 MIM:610622; AllianceGenome:HGNC:26219
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FY; NTD; CPLANE3
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 in humans. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012]
Expression
Broad expression in testis (RPKM 12.5), kidney (RPKM 6.2) and 25 other tissues See more
Orthologs
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Genomic context

See FUZ in Genome Data Viewer
Location:
19q13.33
Exon count:
16
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49806866..49813553, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52807004..52813430, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50310123..50316549, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene adaptor related protein complex 2 subunit alpha 1 Neighboring gene uncharacterized LOC124904742 Neighboring gene microRNA 6799 Neighboring gene uncharacterized LOC105372435 Neighboring gene mediator complex subunit 25 Neighboring gene microRNA 6800 Neighboring gene PTOV1 antisense RNA 1 Neighboring gene PTOV1 extended AT-hook containing adaptor protein

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22688

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in embryonic body morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in embryonic skeletal system morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in establishment of planar polarity IC
Inferred by Curator
more info
PubMed 
involved_in establishment of planar polarity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in hair follicle development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in intraciliary transport IC
Inferred by Curator
more info
PubMed 
involved_in negative regulation of canonical Wnt signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cell population proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of neural crest formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neural tube closure IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neural tube closure ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neural tube development IC
Inferred by Curator
more info
PubMed 
involved_in non-motile cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in non-motile cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cilium assembly IC
Inferred by Curator
more info
PubMed 
involved_in regulation of smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in vesicle-mediated transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cilium IC
Inferred by Curator
more info
PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular exosome HDA PubMed 

General protein information

Preferred Names
protein fuzzy homolog
Names
ciliogenesis and planar polarity effector 3
ciliogenesis and planar polarity effector complex subunit 3
fuzzy homolog

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032843.1 RefSeqGene

    Range
    5019..11445
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001171937.2NP_001165408.1  protein fuzzy homolog isoform 2

    See identical proteins and their annotated locations for NP_001165408.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate donor splice site and lacks an in-frame exon in the 5' coding region compared to variant 1, which results in a shorter isoform (2) missing an internal protein segment compared to isoform 1.
    Source sequence(s)
    AC006942, BC004445, BU073247
    Consensus CDS
    CCDS54293.1
    UniProtKB/Swiss-Prot
    Q9BT04
    Related
    ENSP00000435177.1, ENST00000528094.5
  2. NM_001352262.2NP_001339191.1  protein fuzzy homolog isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform has the same N- and C-termini, but is one aa longer than isoform 1
    Source sequence(s)
    AK315445, BU073247, BU685207, CB152506
  3. NM_001363663.1NP_001350592.1  protein fuzzy homolog isoform 4

    Status: REVIEWED

    Source sequence(s)
    AK315445, BE398163, BU073247, CB152506, HY155648
    Consensus CDS
    CCDS86790.1
    UniProtKB/TrEMBL
    E9PK12
    Related
    ENSP00000431731.1, ENST00000533418.5
  4. NM_025129.5NP_079405.2  protein fuzzy homolog isoform 1

    See identical proteins and their annotated locations for NP_079405.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AK315445, BU073247, CB152506
    Consensus CDS
    CCDS12781.1
    UniProtKB/Swiss-Prot
    Q9BT04, Q9H613
    UniProtKB/TrEMBL
    A0A024QZF7
    Related
    ENSP00000313309.4, ENST00000313777.9

RNA

  1. NR_033269.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an internal exon compared to variant 1. It is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC006942, AK057964, BU073247, CB152506
    Related
    ENST00000525130.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    49806866..49813553 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527341.3XP_011525643.1  protein fuzzy homolog isoform X1

    See identical proteins and their annotated locations for XP_011525643.1

  2. XM_011527340.2XP_011525642.1  protein fuzzy homolog isoform X1

    See identical proteins and their annotated locations for XP_011525642.1

  3. XM_011527346.2XP_011525648.1  protein fuzzy homolog isoform X6

    See identical proteins and their annotated locations for XP_011525648.1

  4. XM_047439462.1XP_047295418.1  protein fuzzy homolog isoform X5

  5. XM_011527343.2XP_011525645.1  protein fuzzy homolog isoform X4

  6. XM_024451730.2XP_024307498.1  protein fuzzy homolog isoform X3

  7. XM_047439463.1XP_047295419.1  protein fuzzy homolog isoform X6

  8. XM_024451729.2XP_024307497.1  protein fuzzy homolog isoform X2

  9. XM_017027320.2XP_016882809.1  protein fuzzy homolog isoform X4

RNA

  1. XR_007067015.1 RNA Sequence

  2. XR_935863.2 RNA Sequence

  3. XR_007067016.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    52807004..52813430 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)