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

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: mouse all
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Genomic context

Location:: 19q13.33

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (49806866..49813553, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (52807004..52813691, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (50310123..50316549, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome.
Title: Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome.
Pan-cancer investigation reveals mechanistic insights of planar cell polarity gene Fuz in carcinogenesis.
Title: Pan-cancer investigation reveals mechanistic insights of planar cell polarity gene Fuz in carcinogenesis.
this study unveils a generic Fuz-mediated apoptotic cell death pathway in neurodegenerative disorders.
Title: Planar cell polarity gene Fuz triggers apoptosis in neurodegenerative disease models.
results in vitro show that FUZ is responsible for non-small-cell lung cancer (NSCLC) progression and metastasis, suggesting that FUZ can be a potential therapeutic target for NSCLC.
Title: In vitro study of FUZ as a novel potential therapeutic target in non-small-cell lung cancer.
Data propose that mutations in Fuzzy may account for a subset of neural tube defects in humans.
Title: Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neural tube defect MedGen: C0027794 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Ap2a1 (e-PCR), detects polymorphism
- UniSTS:141096

STS-AA031950 (e-PCR)
- UniSTS:31074

RH75669 (e-PCR)
- UniSTS:91069

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phosphatidylinositol binding	ISS Inferred from Sequence or Structural Similarity more info
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	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of planar polarity	NAS Non-traceable Author Statement more info	PubMed
involved_in hair follicle development	ISS Inferred from Sequence or Structural Similarity more info
involved_in intraciliary transport	NAS Non-traceable Author Statement 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	NAS Non-traceable Author Statement more info	PubMed
involved_in non-motile cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
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	NAS Non-traceable Author Statement 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	NAS Non-traceable Author Statement 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 more info	PubMed

General protein information

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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)

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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

NG_032843.1 RefSeqGene

Range

5019..11445

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001171937.2 → NP_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
NM_001352262.2 → NP_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
NM_001363663.1 → NP_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
NM_025129.5 → NP_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

B2RD86, B5MDH0, Q6PJY0, Q9BT04, Q9H613

Related

ENSP00000313309.4, ENST00000313777.9

RNA

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