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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FUZ Gene

protein-coding GIFtS: 48
GCID: GC19M050310

fuzzy homolog (Drosophila)

Explore 3 diseases affiliated with
FUZ via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Fuzzy Homolog (Drosophila)¹ ²
FY² ³
FLJ22688¹
Fy¹
NTD²
Protein Fuzzy Homolog²

External Ids:	HGNC: 26219¹	Entrez Gene: 80199²	Ensembl: ENSG00000010361⁷	OMIM: 610622⁵	UniProtKB: Q9BT04³

ORGUL members:
	NONCODE:n409151

Export aliases for FUZ gene to outside databases

Previous GC identifers: GC19M055002 GC19M046686

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FUZ:

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)

UniProtKB/Swiss-Prot: FUZZY_HUMAN, Q9BT04

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)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NC_018930.1 NT_011109.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FUZ gene promoter:
Sp1 Hand1 E47
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FUZ promoter sequence

Search SABiosciences Chromatin IP Primers for FUZ

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FUZ

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.33 Ensembl cytogenetic band: 19q13.33 HGNC cytogenetic band: 19q13.33

FUZ Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FUZ gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M050310: view genomic region (about GC identifiers)

Start:	50,310,123 bp from pter	End:	50,320,633 bp from pter
Size:	10,511 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FUZZY_HUMAN, Q9BT04 (See protein sequence)

Recommended Name: Protein fuzzy homolog

Size: 418 amino acids; 45679 Da

Subcellular location: Cytoplasm (By similarity). Cytoplasm, cytoskeleton (By similarity)

Sequence caution: Sequence=AAH10092.1; Type=Frameshift; Positions=265;

Secondary accessions: B2RD86 B5MDH0 Q6PJY0 Q9H613

Alternative splicing: 3 isoforms: Q9BT04-1 Q9BT04-2 Q9BT04-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FUZ: NX_Q9BT04

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BT04

FUZ Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001165408.1 NP_079405.2

ENSEMBL proteins:

ENSP00000433492 ENSP00000435177 ENSP00000431731 ENSP00000432148 ENSP00000431420

ENSP00000313309 ENSP00000366296 ENSP00000436009 ENSP00000431388 ENSP00000435400

ENSP00000433164 ENSP00000408018

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	Uscn Proteins for FUZ

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--
GO:0005856	cytoskeleton	IEA	--

FUZ for ontologies About GeneDecksing

FUZ Antibody Products:

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

FUZ for domains About GeneDecksing

1 InterPro domain/family:

IPR026069 Fuzzy

Graphical View of Domain Structure for InterPro Entry Q9BT04

ProtoNet protein and cluster: Q9BT04

UniProtKB/Swiss-Prot: FUZZY_HUMAN, Q9BT04

Similarity: Belongs to the fuzzy family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: FUZZY_HUMAN, Q9BT04

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)

miRNA Products:		OriGene 3'-UTR Clone: FUZ Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FUZ
		8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate FUZ (see all 14):
		hsa-miR-3149 hsa-miR-185* hsa-miR-181c hsa-miR-139-3p hsa-miR-452* hsa-miR-181a hsa-miR-3175 hsa-miR-181d

		SwitchGear 3'UTR luciferase reporter plasmid: FUZ 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FUZ

Animal Models:
15/17 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Fuz) (see all 17):

cardiovascular system	cellular	craniofacial	digestive/alimentary	embryogenesis
endocrine/exocrine gland	hearing/vestibular/ear	homeostasis/metabolism	limbs/digits/tail	liver/biliary system
mortality/aging	muscle	nervous system	pigmentation	respiratory system

FUZ for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for FUZ

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

3 Interacting proteins for FUZ (Q9BT04³ ENSP00000313309⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RSG1	Q9BU20³, ENSP00000364749⁴	I2D: score=4 STRING: ENSP00000364749
CELSR1	Q9NYQ6³	I2D: score=1
FZD1	Q9UP38³	I2D: score=1

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

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:0008589	regulation of smoothened signaling pathway	ISS	--
GO:0010172	embryonic body morphogenesis	ISS	--

FUZ for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FUZ
Search CenterWatch for drugs/clinical trials and news about FUZ / FUZZY

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for FUZ gene (2 alternative transcripts):

NM_001171937.1 NM_025129.4

Unigene Cluster for FUZ:

Fuzzy homolog (Drosophila)

Hs.288800 [show with all ESTs]

Unigene Representative Sequence: BF570244

18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):

ENST00000525130 ENST00000528094 ENST00000533418 ENST00000529634 ENST00000525370

ENST00000313777(uc002ppq.2 uc002ppt.2 uc002ppu.2) ENST00000377092

ENST00000534138 ENST00000527973 ENST00000529004 ENST00000528043 ENST00000531017(uc010ybd.2)

ENST00000527585 ENST00000534008 ENST00000529302 ENST00000526575 ENST00000525800

ENST00000527111

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		8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate FUZ (see all 14):
		hsa-miR-3149 hsa-miR-185* hsa-miR-181c hsa-miR-139-3p hsa-miR-452* hsa-miR-181a hsa-miR-3175 hsa-miR-181d

		SwitchGear 3'UTR luciferase reporter plasmid: FUZ 3' UTR sequence

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Additional cDNA sequence:

AK026341.1 AK057964.1 AK315445.1 BC004445.1 BC010092.2 BC016793.2 NR_033269.1

17 DOTS entries:

DT.100878217 DT.450640 DT.100878207 DT.97795998 DT.100878209 DT.95101281 DT.100697175 DT.100878215

DT.91949742 DT.97812515 DT.121500022 DT.100878212 DT.100731895 DT.121499949 DT.91769030 DT.121499945

DT.121499974

24/128 AceView cDNA sequences (see all 128):

AL557174 CR609003 BQ278002 CR613541 BI869985 AK026341 BX361843 AL527000

NM_025129 BX364566 BC016793 CR621655 CR595499 AI129391 AI934605 CR592794

BE746609 BC004445 BP354566 BI821050 AL521311 BP363419 BG773982 CB152506

GeneLoc Exon Structure

5/17 Alternative Splicing Database (ASD) splice patterns (SP) for FUZ (see all 17) About this scheme

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:																											-		-		-		-				-								-		-

ExUns:	10c	·	10d	^	11a	·	11b	^	12a	·	12b	^	13	^	14	^	15
SP1:
SP2:
SP3:	-		-
SP4:
SP5:

ECgene alternative splicing isoforms for FUZ

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

FUZ expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGGCTGTTAG

About this image
See FUZ Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FUZ

SOURCE GeneReport for Unigene cluster: Hs.288800

SABiosciences Expression via Pathway-Focused PCR Array including FUZ:

Primary Cilia in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for FUZ gene from 4/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Fuz^{1 , 5}	fuzzy homolog (Drosophila)^{1, 5}	81.69(n)¹ 87.23(a)¹		7 (28.99 cM)⁵ 70300¹ NM_027376.3¹ NP_081652.2¹ 44896079⁵
lizard (Anolis carolinensis)	Reptilia	-- --	--	61(a) 55(a)	many → 1 many → 1	GL344519.1(18970-30280) 6(80184805-80192746)
zebrafish (Danio rerio)	Actinopterygii	LOC797090¹	protein fuzzy homolog	53.5(n) 49.74(a)		797090 XM_001337507.1 XP_001337543.1
fruit fly (Drosophila melanogaster)	Insecta	fy¹	fuzzy	47.73(n) 35.03(a)		34166 NM_058152.2 NP_477500.1

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs74590950^1,2		--	46687609(+)	`TATGGC/TTCTGC`	3	--	int¹		1		NA	120
rs12609162^1,2	H	--	46688438(+)	`GCGGGC/GCCGGC`	3	--	int¹		0	--	--	--	--
rs78389728^1,2	F,	--	46689325(+)	`GTCACA/CTCCCC`	3	--	int¹		1		NA	120
rs73592263^1,2	C,	--	46689699(+)	`AACACC/TAGGCT`	3	--	int¹		1		WA	2
rs73592266^1,2	C,	--	46689726(+)	`GTCCTG/CGGGGA`	3	--	int¹		2		WA	120
rs10421882^1,2	C,H	--	46689935(+)	`TCCATC/TTCTTA`	3	--	int¹		2		NS NA	228
rs112657132^1,2	C,	--	46690109(+)	`CCAGGC/TGTGGT`	3	--	int¹		1		WA	2
rs1290632^1,2	A	--	46690205(+)	`gattgC/Tgccat`	3	--	int¹		0	--	--	--	--
rs4802628^1,2	C	--	46690328(+)	`gatgaG/Aaggat`	3	--	int¹		2		NA	4
rs113040464^1,2		--	46692468(+)	`ACAAAG/TTCAAC`	3	--	int¹		1		CSA	2

HapMap Linkage Disequilibrium report for FUZ (50310123 - 50320633 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for FUZ
2 CNVs: 5114 32261
Human Gene Mutation Database (HGMD): FUZ

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FUZ

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

FUZ for disorders           About GeneDecksing

OMIM gene information: 610622    OMIM disorders: --

3 diseases for FUZ:    About MalaCards

neural tube defect intrahepatic cholangiocarcinoma cholangiocarcinoma

1 disease from the University of Copenhagen DISEASES database for FUZ:

Spina bifida

Export disorders for FUZ gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for FUZ gene integrated from 9 sources:
(articles sorted by number of sources associating them with FUZ)

Utopia: connect your pdf to the dynamic
world of online information

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)^{1, 3} Strausberg R.L....Marra M.A. (2002)
Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans. (PubMed id 21840926)¹ Seo J.H....Torban E. (2011)
Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PubMed id 16712791)¹ Wang A.G....Kim N.S. (2006)
Ciliogenesis defects in embryos lacking inturned or fuzzy function are associated with failure of planar cell polarity and Hedgehog signaling. (PubMed id 16493421)¹ Park T.J....Wallingford J.B. (2006)
Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)¹ Rual J.F....Vidal M. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (2004)
The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)² Grimwood J.... Lucas S.M. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 80199	HGNC: 26219	AceView: FLJ22688	Ensembl:ENSG00000010361	euGenes: HUgn80199
ECgene: FUZ	H-InvDB: FUZ

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for FUZ	Pharmacogenomics, SNPs, Pathways

Intellectual Property for FUZ gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for FUZ gene:
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(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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FUZ Gene

fuzzy homolog (Drosophila)

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FUZ Gene

fuzzy homolog (Drosophila)

Aliasesfor FUZ gene

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Protein Domains /Familiesfor FUZ gene

Functionfor FUZ gene

Pathways & Interactionsfor FUZ gene

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