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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

WDR66 Gene

protein-coding GIFtS: 44
GCID: GC12P122356

WD repeat domain 66

Explore 1 disease affiliated with
WDR66 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

Aliases
WD Repeat Domain 66¹ ²
MGC33630¹
WD Repeat-Containing Protein 66²

External Ids:	HGNC: 28506¹	Entrez Gene: 144406²	Ensembl: ENSG00000158023⁷	UniProtKB: Q8TBY9³

Export aliases for WDR66 gene to outside databases

Previous GC identifers: GC12P120820 GC12P119367

(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 WDR66:

This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the

formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in

the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in

MPV. Alternative splicing of this gene results in multiple transcript variants. (provided by RefSeq, Sep 2011)

(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_000012.11 NC_018923.1 NT_009775.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the WDR66 gene promoter:
STAT5B STAT1 STAT4 STAT1beta STAT5A Nkx2-5 STAT1alpha STAT2 STAT3 MRF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: WDR66 promoter sequence

Search SABiosciences Chromatin IP Primers for WDR66

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat WDR66

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

Entrez Gene cytogenetic band: 12q24.31 Ensembl cytogenetic band: 12q24.31 HGNC cytogenetic band: 12q24.31

WDR66 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WDR66 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12P122356: view genomic region (about GC identifiers)

Start:	122,355,768 bp from pter	End:	122,441,833 bp from pter
Size:	86,066 bases	Orientation:	plus 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: WDR66_HUMAN, Q8TBY9 (See protein sequence)

Recommended Name: WD repeat-containing protein 66

Size: 1149 amino acids; 129952 Da

Secondary accessions: C9J1W2 Q8IYA3 Q8N898 Q8NDE7

Alternative splicing: 3 isoforms: Q8TBY9-1 Q8TBY9-2 Q8TBY9-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for WDR66: NX_Q8TBY9

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8TBY9

WDR66 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001171474.1 NP_653269.3

ENSEMBL proteins:

ENSP00000288912 ENSP00000380595

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

WDR66 for domains About GeneDecksing

4 InterPro domains/families:

IPR011992 EF-hand-like_dom

IPR001680 WD40_repeat

IPR017986 WD40_repeat_dom

IPR015943 WD40/YVTN_repeat-like_dom

Graphical View of Domain Structure for InterPro Entry Q8TBY9

ProtoNet protein and cluster: Q8TBY9

UniProtKB/Swiss-Prot: WDR66_HUMAN, Q8TBY9

Similarity: Contains 9 WD repeats

(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

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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005509	calcium ion binding	IEA	--

WDR66 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for WDR66:

Decreased viability of wild-ty

(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 WDR66

(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 WDR66
Search CenterWatch for drugs/clinical trials and news about WDR66

(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,
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About This Section

REFSEQ mRNAs for WDR66 gene (2 alternative transcripts):

NM_001178003.1 NM_144668.5

Unigene Cluster for WDR66:

WD repeat domain 66

Hs.709837 [show with all ESTs]

Unigene Representative Sequence: NM_144668

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000288912(uc009zxk.3) ENST00000397454(uc021rfh.1) ENST00000540779

ENST00000546044 ENST00000543211 ENST00000535257 ENST00000545752 ENST00000428465

ENST00000545988

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		hsa-miR-2113
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Additional cDNA sequence:

AK307298.1 AL833930.1 BC028421.2 BC036233.1

8 DOTS entries:

DT.97827452 DT.92041564 DT.97822269 DT.40281989 DT.121119424 DT.91828496 DT.97827453 DT.99933529

24/280 AceView cDNA sequences (see all 280):

BC004213 BQ420656 AL833930 BU740504 BX116425 BM977486 CF128536 BI493839

N57237 BM676466 BU739491 BE466812 NM_002813 BF510741 BM981529 AL037250

AI580764 AA337357 BQ005832 CR624376 CB241096 AI202368 AA448270 BC002383

GeneLoc Exon Structure

(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

WDR66 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGGCACTGCT

About this image

WDR66 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Posterior foregut-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See WDR66 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for WDR66

SOURCE GeneReport for Unigene cluster: Hs.709837

SABiosciences Custom PCR Arrays for WDR66

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In Situ
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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 WDR66 gene from 6/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Wdr66^{1 , 5}	WD repeat domain 66^{1, 5}	74.26(n)¹ 72.46(a)¹		5 (62.86 cM)⁵ 269701¹ XM_485681.7¹ XP_485681.7¹ 123252102⁵
chicken (Gallus gallus)	Aves	WDR66¹	WD repeat domain 66	60.19(n) 52.65(a)		416855 XM_415147.3 XP_415147.3
lizard (Anolis carolinensis)	Reptilia	WDR66⁶	--	44(a)	1 ↔ 1	GL343550.1(347118-379511)
African clawed frog (Xenopus laevis)	Amphibia	BJ082172.1²	--	73.89(n)		BJ082172.1
zebrafish (Danio rerio)	Actinopterygii	wdr66¹	WD repeat domain 66	54.44(n) 45.21(a)		569257 XM_692631.4 XP_697723.4
mosquito (Anopheles gambiae)	Insecta	AgaP_AGAP007799¹	AGAP007799-PA	43.33(n) 28.64(a)		3291590 XM_555730.2 XP_555730.2

ENSEMBL Gene Tree for WDR66 (if available)
TreeFam Gene Tree for WDR66 (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 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs11043242^1,2	C,F,H,	--	122356293(+)	`GGGACG/CGGACC`	2	--	us2k¹		14		NS EA NA WA CSA	765
rs11043243^1,2	C,F,A,H,	--	122356370(+)	`CGACCG/CGCAGG`	2	--	us2k¹		10		NS EA NA	536
rs12301316^1,2	C,F,H,	--	122356386(+)	`CGTCGG/CGCACG`	2	--	us2k¹		7		NS EA WA CSA	530
rs10743185^1,2	C,F,A,H,	--	122356435(+)	`CTGTCA/GCTTTA`	2	--	us2k¹		7		WA NA EA	368
rs10743186^1,2	C,F,A,H,	--	122356436(+)	`TGTCGT/CTTTAG`	2	--	us2k¹		7		NA WA EA	368
rs75253429^1,2	C,F,	--	122356479(+)	`GGGGAC/TGGAGC`	2	--	ut5¹		2		NA EA	240
rs185310735^1,2		--	122356530(+)	`GCGGCC/TGCTGG`	2	--	ut5¹		0	--	--	--	--
rs146089350^1,2		--	122356810(+)	`CTGCCC/GCAAAC`	2	--	int¹		0	--	--	--	--
rs189137647^1,2		--	122356913(+)	`AGCAGC/TGATTT`	2	--	int¹		0	--	--	--	--
rs11374418^1,2	C	--	122357031(+)	`TATTT-/TATTAT`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for WDR66 (122355768 - 122441833 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for WDR66
1 Indel: 39936
Human Gene Mutation Database (HGMD): WDR66

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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

WDR66 for disorders About GeneDecksing

1 disease for WDR66: About MalaCards

malaria

Human Genome Epidemiology (HuGE) Navigator: WDR66 (2 documents)

Export disorders for WDR66 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 WDR66 gene, integrated from 9 sources (see all 16):
(articles sorted by number of sources associating them with WDR66)

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

Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
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)
Analysis of indel variations in the human disease-asso ciated genes CDKN2AIP, WDR66, USP20 and OR7C2 in a Korean population. (PubMed id 22552337)¹ Kim R.N....Park H.S. (2012)
A genome-wide association study of metabolic traits i n human urine. (PubMed id 21572414)¹ Suhre K....Nauck M. (2011)
New gene functions in megakaryopoiesis and platelet fo rmation. (PubMed id 22139419)¹ Gieger C....Soranzo N. (2011)
A genome-wide meta-analysis identifies 22 loci associ ated with eight hematological parameters in the HaemGen consortium. (PubMed id 19820697)¹ Soranzo N....Gieger C. (2009)
Association between genetic variants in VEGF, ERCC3 a nd occupational benzene haematotoxicity. (PubMed id 19773279)¹ Hosgood H.D....Lan Q. (2009)
A genome-wide association study identifies three loci associated with mean platelet volume. (PubMed id 19110211)¹ Meisinger C....DAPring A. (2009)
Diversity of WD-repeat proteins. (PubMed id 18925368)¹ Smith T.F. (2008)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)

(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: 144406	HGNC: 28506	AceView: PSMD9andMGC33630	Ensembl:ENSG00000158023	euGenes: HUgn144406
ECgene: WDR66	H-InvDB: WDR66

(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 WDR66	Pharmacogenomics, SNPs, Pathways

Intellectual Property for WDR66 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for WDR66 gene:
Search GeneIP for patents involving WDR66

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(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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About This Section


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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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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes WDR66 gene at Home site.

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WDR66 Gene

WD repeat domain 66

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WDR66 Gene

WD repeat domain 66

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