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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

WDR72 Gene

protein-coding GIFtS: 46
GCID: GC15M053805

WD repeat domain 72

Explore 4 diseases affiliated with
WDR72 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 72¹ ²
AI2A3² ⁵
FLJ38736¹
WD Repeat-Containing Protein 72²

External Ids:	HGNC: 26790¹	Entrez Gene: 256764²	Ensembl: ENSG00000166415⁷	OMIM: 613214⁵	UniProtKB: Q3MJ13³

Export aliases for WDR72 gene to outside databases

Previous GC identifers: GC15M051595 GC15M030638

(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 WDR72:

This gene encodes a protein with seven WD40 domains. Mutations in this gene have been associated with autosomal

recessive hypomaturation amelogenesis imperfect type IIA3. (provided by RefSeq, Aug 2011)

Gene Wiki entry for WDR72

(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_000015.9 NC_018926.1 NT_010194.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the WDR72 gene promoter:
NF-YA POU6F1 (c2) NF-YB CBF-A CBF-B FOXO1a CP1A NF-Y FOXO1 CBF(2)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: WDR72 promoter sequence

Search SABiosciences Chromatin IP Primers for WDR72

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat WDR72

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

Entrez Gene cytogenetic band: 15q21.3 Ensembl cytogenetic band: 15q21.3 HGNC cytogenetic band: 15q21.3

WDR72 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WDR72 gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15M053805: view genomic region (about GC identifiers)

Start:	53,805,938 bp from pter	End:	54,055,075 bp from pter
Size:	249,138 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: WDR72_HUMAN, Q3MJ13 (See protein sequence)

Recommended Name: WD repeat-containing protein 72

Size: 1102 amino acids; 123425 Da

Secondary accessions: Q7Z3I3 Q8N8X2

Explore the universe of human proteins at neXtProt for WDR72: NX_Q3MJ13

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q3MJ13

WDR72 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_877435.2

ENSEMBL proteins:

ENSP00000379619 ENSP00000453378 ENSP00000353699 ENSP00000452765 ENSP00000453813

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

WDR72 for domains About GeneDecksing

4 InterPro domains/families:

IPR019775 WD40_repeat_CS

IPR001680 WD40_repeat

IPR017986 WD40_repeat_dom

IPR015943 WD40/YVTN_repeat-like_dom

Graphical View of Domain Structure for InterPro Entry Q3MJ13

ProtoNet protein and cluster: Q3MJ13

UniProtKB/Swiss-Prot: WDR72_HUMAN, Q3MJ13

Similarity: Contains 8 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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(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 WDR72

(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 WDR72
Search CenterWatch for drugs/clinical trials and news about WDR72

(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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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 WDR72 gene:

NM_182758.2

Unigene Cluster for WDR72:

WD repeat domain 72

Hs.122125 [show with all ESTs]

Unigene Representative Sequence: NM_182758

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

ENST00000567224(uc010bfh.1) ENST00000396328(uc002acj.2) ENST00000557913

ENST00000360509(uc010bfi.1) ENST00000559418 ENST00000560036 ENST00000567575

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Additional cDNA sequence:

AK096055.1 AK123805.1 AK125130.1 AK310211.1 AK311300.1 BC058026.1 BC101614.1 BC101616.1

BX537884.1 BX648571.1 BX648751.1

7 DOTS entries:

DT.97797773 DT.99935718 DT.207656 DT.205929 DT.100745586 DT.121056441 DT.91751155

24/68 AceView cDNA sequences (see all 68):

BQ186335 AI796711 AI984341 BX951021 BU681294 AI733060 AW269363 AA923056

BX103738 AA856602 BC058026 AK123805 AA625553 AI932894 AW662716 BM552062

AI732846 BQ427949 AI245416 CA312303 AA862938 AI623825 AA779897 AW969587

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for WDR72 About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17a	·	17b	^	18	^	19	^	20	^	21a	·	21b	·	21c	^	22	^	23	^
SP1:			-		-																																						-		-		-		-
SP2:
SP3:																																															-		-
SP4:																																																	-
SP5:

ExUns:	24a	·	24b	·	24c	·	24d
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for WDR72

(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

WDR72 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

WDR72 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: 10/16 LifeMap Cells (see all 16)

Name

Category

PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)

Heart, Myocardium, Smooth Muscle

PureStem™ progenitor T42 (Embryonic Progenitor Cell)

PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)

Cartilage, Neural Crest

PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)

Lateral Plate Mesoderm, Neural Crest

PureStem™ progenitor EN2 (Embryonic Progenitor Cell)

PureStem™ progenitor EN27 (Embryonic Progenitor Cell)

PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See WDR72 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for WDR72

SOURCE GeneReport for Unigene cluster: Hs.122125

SABiosciences Custom PCR Arrays for WDR72

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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 WDR72 gene from 5/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Wdr72^{1 , 5}	WD repeat domain 72^{1, 5}	81.33(n)¹ 79.51(a)¹		9 (41.06 cM)⁵ 546144¹ NM_001033500.3¹ NP_001028672.2¹ 74110356⁵
chicken (Gallus gallus)	Aves	WDR72¹	WD repeat domain 72	67.4(n) 59.06(a)		427497 XM_425069.3 XP_425069.3
lizard (Anolis carolinensis)	Reptilia	WDR72⁶	--	48(a)	1 ↔ 1	AAWZ02036604(15511-22675)
fruit fly (Drosophila melanogaster)	Insecta	Rbcn-3B⁶	Rabconnectin-3B	20(a)	1 → many	X(1802957-1810207)
worm (Caenorhabditis elegans)	Secernentea	rbc-2⁶	RaB Connectin related family member (rbc-2)	17(a)	1 → many	III(2512638-2528618)

ENSEMBL Gene Tree for WDR72 (if available)
TreeFam Gene Tree for WDR72 (if available)

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

Paralogs for WDR72 gene

WDR7²

1 SIMAP similar gene for WDR72 using alignment to 4 protein entries: WDR72_HUMAN (see all proteins):

WDR7

WDR72 for paralogs About GeneDecksing

(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 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs143816093^1,2	C,	pathogenic	71649796(+)	`TCTCTC/G/TCAACA`	3	* C W	stg¹ mis¹		1		NA	4550
rs113851604^1,2		--	30636257(+)	`TGTGCG/TTTCTG`	1	--	int¹		1		CSA	2
rs34384996^1,2	C,F,H	--	30636372(+)	`TTAATA/CCAATA`	1	--	ut3¹		5		NS NA	786
rs6493630^1,2	C,F,A,	--	30636373(+)	`taataC/Taatat`	1	--	ut3¹		1		WA	118
rs79708164^1,2	C,	--	30636567(+)	`ACAGAC/GAGACC`	1	--	ut3¹		2		NA	122
rs75272713^1,2		--	30636618(+)	`GGCTCA/CTTCTT`	1	--	ut3¹		0	--	--	--	--
rs111488180^1,2		--	30636717(+)	`AATTTC/TGCAAC`	1	--	ut3¹		1		CSA	2
rs13329257^1,2	C,F,H,	--	30636876(+)	`AACACC/TGCTTT`	1	--	ut3¹		4		NS EA	418
rs74015386^1,2	C,	--	30636886(+)	`TTATAT/GAACTG`	1	--	ut3¹		2		WA	120
rs74015387^1,2	C,	--	30636984(+)	`GTAACC/TTGAAC`	1	--	ut3¹		1		WA	2

HapMap Linkage Disequilibrium report for WDR72 (53805938 - 54055075 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for WDR72
3 CNVs: 66803 53379 32036
1 Indel: 66802
Human Gene Mutation Database (HGMD): WDR72

SABiosciences Cancer Mutation PCR Assays

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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

WDR72 for disorders           About GeneDecksing

OMIM gene information: 613214
OMIM disorders: 613211
UniProtKB/Swiss-Prot: WDR72_HUMAN, Q3MJ13

Defects in WDR72 are the cause of amelogenesis imperfecta hypomaturation type 2A3 (AI2A3) [MIM:613211]. A

defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar

jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel

4 diseases for WDR72: About MalaCards

amelogenesis imperfecta hypomaturation type amelogenesis imperfecta, hypomaturation type, iia3 amelogenesis imperfecta kidney disease

2 diseases from the University of Copenhagen DISEASES database for WDR72:

Amelogenesis imperfecta Brachyolmia

Human Genome Epidemiology (HuGE) Navigator: WDR72 (4 documents)

Export disorders for WDR72 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 WDR72 gene, integrated from 9 sources (see all 17):
(articles sorted by number of sources associating them with WDR72)

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

Mutations in the beta propeller WDR72 cause autosomal -recessive hypomaturation amelogenesis imperfecta. (PubMed id 19853237)^{1, 2} El-Sayed W....Mighell A.J. (2009)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. (PubMed id 22797727)¹ Okada Y....Tanaka T. (2012)
Genome-wide study identifies PTPRO and WDR72 and FOXQ1 -SUMO1P1 interaction associated with neurocognitive function. (PubMed id 22126837)¹ LeBlanc M....Andreassen O.A. (2012)
Evaluation of four novel genetic variants affecting h emoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 st udy). (PubMed id 21294870)¹ Hertel J.K....RA (2011)
Hypomaturation amelogenesis imperfecta due to WDR72 m utations: a novel mutation and ultrastructural analyses of deciduous teeth. (PubMed id 21196691)¹ El-Sayed W....Mighell A.J. (2011)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Genome-wide association study of hematological and bi ochemical traits in a Japanese population. (PubMed id 20139978)¹ Kamatani Y....Kamatani N. (2010)
Novel WDR72 mutation and cytoplasmic localization. (PubMed id 20938048)¹ Lee S.K....Kim J.W. (2010)

(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: 256764	HGNC: 26790	AceView: FLJ38736.1	Ensembl:ENSG00000166415	euGenes: HUgn256764
ECgene: WDR72	H-InvDB: WDR72

(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 WDR72	Pharmacogenomics, SNPs, Pathways

Intellectual Property for WDR72 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for WDR72 gene:
Search GeneIP for patents involving WDR72

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),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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 WDR72 gene at Home site.

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WDR72 Gene

WD repeat domain 72

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WDR72 Gene

WD repeat domain 72

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